#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
CFAP74	85452	broad.mit.edu	37	1	1853772	1853772	+	IGR	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:1853772T>C								TMEM52 (3060 upstream) : C1orf222 (65790 downstream)														p.E291G(1)									CTTGTAGGTCTCCTTCACATC	0.617																																						uc001aik.2																			1	Substitution - Missense(1)		lung(1)								c.(871-873)GAG>GGG		RecName: Full=Uncharacterized protein C1orf222;							99.0	84.0	89.0					1																	1853772		2203	4298	6501	SO:0001628	intergenic_variant	0							g.chr1:1853772T>C																													1.37:g.1853772T>C						uc001ail.2_Missense_Mutation_p.E291G	p.E291G							11	1722	-									Missense_Mutation	SNP		37	c.872A>G		.	.	.	.	.	.	.	.	.	.	T	16.40	3.112794	0.56398	.	.	ENSG00000142609	ENST00000493964	T	0.35236	1.32	3.45	3.45	0.39498	.	0.248521	0.32687	N	0.005771	T	0.57110	0.2031	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61530	-0.7044	10	0.66056	D	0.02	.	11.2153	0.48823	0.0:0.0:0.0:1.0	.	291	Q69YW0	CA222_HUMAN	G	853	ENSP00000417061:E853G	ENSP00000417061:E853G	E	-	2	0	C1orf222	1843632	0.653000	0.27358	0.998000	0.56505	0.976000	0.68499	2.228000	0.42981	1.574000	0.49760	0.397000	0.26171	GAG	0	PASS	0.617									13	64	13	64	---	---	---	---
FAM213B	127281	broad.mit.edu	37	1	2520063	2520063	+	Splice_Site	SNP	A	A	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:2520063A>C	ENST00000378425.5	+	5	535	c.459A>C	c.(457-459)aaA>aaC	p.K153N	FAM213B_ENST00000444521.2_Splice_Site_p.K171N|FAM213B_ENST00000378424.4_Splice_Site_p.K201N|FAM213B_ENST00000484099.1_3'UTR|FAM213B_ENST00000537325.1_Intron|FAM213B_ENST00000419916.2_Splice_Site_p.K183N			Q8TBF2	PGFS_HUMAN	family with sequence similarity 213, member B	153					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|myelin sheath (GO:0043209)	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|prostaglandin-F synthase activity (GO:0047017)	p.K153N(1)									TGGTCAGCAAAGGTGGGTCGA	0.637																																						uc001aju.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(457-459)AAA>AAC		hypothetical protein LOC127281							91.0	107.0	101.0					1																	2520063		2203	4300	6503	SO:0001630	splice_region_variant	127281				prostaglandin biosynthetic process	cytosol	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	g.chr1:2520063A>C	AK075273	CCDS44.1, CCDS44.2, CCDS55564.1, CCDS72690.1, CCDS72691.1	1p36.32	2011-12-08	2011-11-24	2011-11-24	ENSG00000157870	ENSG00000157870	1.11.1.20		28390	protein-coding gene	gene with protein product	"""prostamide/prostaglandin F synthase"""		"""chromosome 1 open reading frame 93"""	C1orf93		18006499	Standard	NM_152371		Approved	MGC26818	uc001ajv.2	Q8TBF2	OTTHUMG00000000847	ENST00000378425.5:c.460+1A>C	1.37:g.2520063A>C						C1orf93_uc001ajw.1_Missense_Mutation_p.K153N|C1orf93_uc001ajv.1_Missense_Mutation_p.K171N|C1orf93_uc010nzd.1_Missense_Mutation_p.K160T|C1orf93_uc010nze.1_Intron|C1orf93_uc010nzf.1_Intron|C1orf93_uc001ajx.1_Silent_p.R37R	p.K153N	NM_152371	NP_689584	Q8TBF2	PGFS_HUMAN		Epithelial(90;4.76e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.19e-23)|GBM - Glioblastoma multiforme(42;1.13e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.00205)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)	5	535	+	all_cancers(77;0.000167)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.97e-16)|all_lung(118;3.05e-07)|Lung NSC(185;2.8e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Lung SC(97;0.109)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	153					A8K793|B3KPY3|B4DQR9|B4E0S5|B7ZAC8|B9DI90|B9DI92|J3KQD0|Q8N2H0	Missense_Mutation	SNP	ENST00000378425.5	37	c.459A>C		.	.	.	.	.	.	.	.	.	.	A	14.70	2.613810	0.46631	.	.	ENSG00000157870	ENST00000419916;ENST00000378424;ENST00000378425;ENST00000444521	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	4.18	1.81	0.25067	.	0.000000	0.85682	D	0.000000	T	0.55689	0.1936	.	.	.	0.80722	D	1	D;D;D	0.89917	0.969;1.0;1.0	P;D;D	0.85130	0.785;0.995;0.997	T	0.53158	-0.8478	9	0.72032	D	0.01	-19.1269	2.8689	0.05610	0.6587:0.0:0.1232:0.2181	.	153;171;153	Q8TBF2-2;Q8TBF2-3;Q8TBF2	.;.;PGFS_HUMAN	N	183;201;153;171	ENSP00000394405:K183N;ENSP00000367681:K201N;ENSP00000367682:K153N;ENSP00000413218:K171N	ENSP00000367681:K201N	K	+	3	2	C1orf93	2509923	1.000000	0.71417	0.998000	0.56505	0.588000	0.36517	3.978000	0.56881	0.183000	0.20059	0.379000	0.24179	AAA		PASS	0.637	FAM213B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152371	Missense_Mutation	41	170	41	170	---	---	---	---
PTCHD2	57540	broad.mit.edu	37	1	11589694	11589694	+	Silent	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:11589694C>A	ENST00000294484.6	+	14	3018	c.2880C>A	c.(2878-2880)tcC>tcA	p.S960S	PTCHD2_ENST00000389575.3_Silent_p.S960S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	960					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.S1177S(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TGCTTAGCTCCAGCCCCGATG	0.627																																						uc001ash.3																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(2878-2880)TCC>TCA		patched domain containing 2							55.0	59.0	57.0					1																	11589694		1973	4143	6116	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11589694C>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2880C>A	1.37:g.11589694C>A							p.S960S	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	14	3018	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	960			Extracellular (Potential).		Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.2880C>A	CCDS41247.1																																																																																				PASS	0.627	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		8	58	8	58	---	---	---	---
AGMAT	79814	broad.mit.edu	37	1	15905419	15905419	+	Missense_Mutation	SNP	C	C	T	rs553000649		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:15905419C>T	ENST00000375826.3	-	4	797	c.655G>A	c.(655-657)Gtg>Atg	p.V219M	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	219					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)	p.V219M(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTGCACCACACGCTTACAG	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16871	0.0		0.0	False		,,,				2504	0.0				NSCLC(126;1678 1780 25805 43508 49531)	uc001awv.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(655-657)GTG>ATG		agmatine ureohydrolase (agmatinase) precursor							77.0	74.0	75.0					1																	15905419		2203	4300	6503	SO:0001583	missense	79814				putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding	g.chr1:15905419C>T	AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.655G>A	1.37:g.15905419C>T	ENSP00000364986:p.Val219Met					DNAJC16_uc001awu.2_Intron	p.V219M	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)	4	798	-		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	219					Q5TDH1|Q9H5J3	Missense_Mutation	SNP	ENST00000375826.3	37	c.655G>A	CCDS160.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018161	0.93404	.	.	ENSG00000116771	ENST00000375826	D	0.85339	-1.97	5.87	5.87	0.94306	Ureohydrolase domain (1);	0.000000	0.85682	D	0.000000	D	0.91805	0.7407	M	0.72576	2.205	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	D	0.90969	0.4818	10	0.48119	T	0.1	-33.9421	18.8426	0.92190	0.0:1.0:0.0:0.0	.	219	Q9BSE5	SPEB_HUMAN	M	219	ENSP00000364986:V219M	ENSP00000364986:V219M	V	-	1	0	AGMAT	15778006	1.000000	0.71417	0.971000	0.41717	0.971000	0.66376	7.005000	0.76323	2.788000	0.95919	0.650000	0.86243	GTG		PASS	0.627	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758		5	36	5	36	---	---	---	---
ZBTB17	7709	broad.mit.edu	37	1	16269916	16269916	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:16269916C>T	ENST00000375743.4	-	12	1907	c.1675G>A	c.(1675-1677)Gtc>Atc	p.V559I	ZBTB17_ENST00000537142.1_Missense_Mutation_p.V477I|ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000375733.2_Missense_Mutation_p.V559I	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	559					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V559I(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTCGCAGACGTAGGGCTTC	0.657																																						uc001axl.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1675-1677)GTC>ATC		zinc finger and BTB domain containing 17							65.0	73.0	70.0					1																	16269916		2203	4300	6503	SO:0001583	missense	7709				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:16269916C>T	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1675G>A	1.37:g.16269916C>T	ENSP00000364895:p.Val559Ile					ZBTB17_uc010obq.1_Missense_Mutation_p.V476I|ZBTB17_uc010obr.1_Missense_Mutation_p.V559I|ZBTB17_uc010obs.1_Missense_Mutation_p.V483I	p.V559I	NM_003443	NP_003434	Q13105	ZBT17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	12	1914	-		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	559			C2H2-type 10.		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	ENST00000375743.4	37	c.1675G>A	CCDS165.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049158	0.36181	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000375729	T;T;T	0.07567	3.18;3.18;3.18	4.86	2.95	0.34219	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.339048	0.26556	N	0.023710	T	0.04048	0.0113	N	0.17312	0.475	0.80722	D	1	P;P;B	0.39601	0.531;0.68;0.355	B;B;B	0.31390	0.055;0.129;0.064	T	0.50233	-0.8852	10	0.56958	D	0.05	.	5.5318	0.16989	0.1459:0.6375:0.1408:0.0759	.	559;477;559	Q13105-2;F5H411;Q13105	.;.;ZBT17_HUMAN	I	559;559;478;477;115	ENSP00000364895:V559I;ENSP00000364885:V559I;ENSP00000438529:V477I	ENSP00000364881:V115I	V	-	1	0	ZBTB17	16142503	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	4.518000	0.60510	0.555000	0.29079	-0.251000	0.11542	GTC		PASS	0.657	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443		11	90	11	90	---	---	---	---
KIF17	57576	broad.mit.edu	37	1	21014254	21014254	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:21014254G>T	ENST00000247986.2	-	8	1875	c.1565C>A	c.(1564-1566)gCg>gAg	p.A522E	KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Missense_Mutation_p.A422E|KIF17_ENST00000400463.3_Missense_Mutation_p.A522E			Q9P2E2	KIF17_HUMAN	kinesin family member 17	522					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.A522E(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GGGCAGCTCCGCAAACCTGGA	0.542																																						uc001bdr.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1564-1566)GCG>GAG		kinesin family member 17 isoform a							76.0	75.0	75.0					1																	21014254		2203	4300	6503	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21014254G>T	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1565C>A	1.37:g.21014254G>T	ENSP00000247986:p.Ala522Glu					KIF17_uc001bdp.3_5'Flank|KIF17_uc001bdq.3_5'Flank|KIF17_uc009vpx.2_Intron|KIF17_uc001bds.3_Missense_Mutation_p.A522E	p.A522E	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	8	1683	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	522					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.1565C>A	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	0.324	-0.960011	0.02267	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.70749	-0.51;-0.41;-0.41	5.04	1.35	0.21983	.	0.252481	0.20123	N	0.098760	T	0.24509	0.0594	N	0.00268	-1.735	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.41610	-0.9499	10	0.02654	T	1	.	4.9555	0.14036	0.3116:0.0:0.178:0.5104	.	522;522	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	E	422;522;522	ENSP00000364184:A422E;ENSP00000383311:A522E;ENSP00000247986:A522E	ENSP00000247986:A522E	A	-	2	0	KIF17	20886841	0.000000	0.05858	0.070000	0.20053	0.102000	0.19082	0.068000	0.14531	0.055000	0.16094	-0.467000	0.05162	GCG		PASS	0.542	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		27	86	27	86	---	---	---	---
ALPL	249	broad.mit.edu	37	1	21904050	21904050	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:21904050G>A	ENST00000374840.3	+	12	1734	c.1484G>A	c.(1483-1485)gGc>gAc	p.G495D	ALPL_ENST00000374830.1_Missense_Mutation_p.G141D|ALPL_ENST00000374829.1_Missense_Mutation_p.G141D|ALPL_ENST00000374832.1_Missense_Mutation_p.G495D|ALPL_ENST00000539907.1_Missense_Mutation_p.G418D|ALPL_ENST00000540617.1_Missense_Mutation_p.G440D|ALPL_ENST00000425315.2_Missense_Mutation_p.G495D	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	495					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.G495D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	GCCAACCTCGGCCACTGTGCT	0.687																																						uc001bet.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1483-1485)GGC>GAC		tissue-nonspecific alkaline phosphatase	Amifostine(DB01143)						32.0	28.0	29.0					1																	21904050		2184	4284	6468	SO:0001583	missense	249				response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr1:21904050G>A	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.1484G>A	1.37:g.21904050G>A	ENSP00000363973:p.Gly495Asp					ALPL_uc010odn.1_Missense_Mutation_p.G443D|ALPL_uc010odo.1_Missense_Mutation_p.G440D|ALPL_uc010odp.1_Missense_Mutation_p.G418D|ALPL_uc001beu.3_Missense_Mutation_p.G495D	p.G495D	NM_000478	NP_000469	P05186	PPBT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	12	1741	+		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	495					A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	37	c.1484G>A	CCDS217.1	.	.	.	.	.	.	.	.	.	.	a	1.622	-0.521367	0.04171	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315;ENST00000374830;ENST00000374829	D;D;D;D;D;D;D	0.97138	-3.87;-3.87;-3.69;-3.69;-3.69;-4.26;-4.26	4.59	4.59	0.56863	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.285191	0.37095	N	0.002244	D	0.89121	0.6625	N	0.08118	0	0.20638	N	0.99988	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.75357	-0.3346	10	0.02654	T	1	-21.6058	8.4643	0.32947	0.9071:0.0:0.0929:0.0	.	418;443;495	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	D	418;440;495;495;495;141;141	ENSP00000437674:G418D;ENSP00000442672:G440D;ENSP00000363973:G495D;ENSP00000363965:G495D;ENSP00000394765:G495D;ENSP00000363963:G141D;ENSP00000363962:G141D	ENSP00000363962:G141D	G	+	2	0	ALPL	21776637	0.690000	0.27699	0.866000	0.34008	0.017000	0.09413	1.098000	0.31000	0.804000	0.34136	-0.376000	0.06991	GGC		PASS	0.687	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		11	15	11	15	---	---	---	---
EPHB2	2048	broad.mit.edu	37	1	23191524	23191524	+	Silent	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:23191524C>T	ENST00000400191.3	+	5	1140	c.1122C>T	c.(1120-1122)cgC>cgT	p.R374R	EPHB2_ENST00000374627.1_Silent_p.R368R|EPHB2_ENST00000374632.3_Silent_p.R374R|MIR4253_ENST00000581187.1_RNA|EPHB2_ENST00000374630.3_Silent_p.R374R|EPHB2_ENST00000544305.1_Silent_p.R374R|EPHB2_ENST00000465676.1_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	374	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.R374R(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCTGCACCCGCTGCGGGGACA	0.637																																						uc009vqj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)|pancreas(1)	5						c.(1120-1122)CGC>CGT		ephrin receptor EphB2 isoform 1 precursor							62.0	61.0	61.0					1																	23191524		2203	4300	6503	SO:0001819	synonymous_variant	2048	Hereditary_Prostate_Cancer			axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23191524C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1122C>T	1.37:g.23191524C>T						EPHB2_uc001bge.2_Silent_p.R374R|EPHB2_uc001bgf.2_Silent_p.R374R|EPHB2_uc010odu.1_Silent_p.R374R|hsa-mir-4253|MI0015860_5'Flank	p.R374R	NM_017449	NP_059145	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	5	1267	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	374			Extracellular (Potential).|Fibronectin type-III 1.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.1122C>T																																																																																					PASS	0.637	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		4	81	4	81	---	---	---	---
SERINC2	347735	broad.mit.edu	37	1	31906004	31906004	+	Missense_Mutation	SNP	G	G	T	rs377048384		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:31906004G>T	ENST00000373709.3	+	9	1354	c.1204G>T	c.(1204-1206)Gtc>Ttc	p.V402F	SERINC2_ENST00000373710.1_Missense_Mutation_p.V411F|SERINC2_ENST00000536384.1_Missense_Mutation_p.V406F|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536859.1_Missense_Mutation_p.V406F	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	402					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)	p.V402F(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CTCACTGCACGTCATGATGAC	0.627																																						uc010ogh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1216-1218)GTC>TTC		tumor differentially expressed 2-like		G	PHE/VAL,PHE/VAL,PHE/VAL,PHE/VAL,PHE/VAL	0,4406		0,0,2203	116.0	93.0	101.0		1204,1216,1039,1231,1216	0.1	1.0	1		101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	SERINC2	NM_178865.4,NM_018565.3,NM_001199039.1,NM_001199038.1,NM_001199037.1	50,50,50,50,50	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	402/456,406/460,347/401,411/465,406/460	31906004	1,13005	2203	4300	6503	SO:0001583	missense	347735					integral to membrane		g.chr1:31906004G>T	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.1204G>T	1.37:g.31906004G>T	ENSP00000362813:p.Val402Phe					SERINC2_uc010ogg.1_Missense_Mutation_p.V403F|SERINC2_uc001bst.2_Missense_Mutation_p.V402F|SERINC2_uc001bsu.2_Missense_Mutation_p.V347F|SERINC2_uc001bsv.2_Missense_Mutation_p.V347F	p.V406F	NM_178865	NP_849196	Q96SA4	SERC2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)	9	1417	+		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	403			Helical; (Potential).		A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	ENST00000373709.3	37	c.1216G>T	CCDS30662.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.903689	0.52333	0.0	1.16E-4	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	4.45	0.12	0.14691	.	0.169299	0.50627	D	0.000106	T	0.35770	0.0943	M	0.81682	2.555	0.43025	D	0.994584	P;P;B	0.47302	0.474;0.893;0.302	P;P;B	0.62813	0.639;0.907;0.36	T	0.08743	-1.0707	10	0.87932	D	0	-28.5184	7.8533	0.29468	0.6663:0.0:0.3337:0.0	.	406;411;403	B4DJK5;E7EUZ9;Q96SA4	.;.;SERC2_HUMAN	F	411;406;402;406	ENSP00000362814:V411F;ENSP00000444307:V406F;ENSP00000362813:V402F;ENSP00000439048:V406F	ENSP00000362813:V402F	V	+	1	0	SERINC2	31678591	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	2.531000	0.45650	-0.131000	0.11578	-1.264000	0.01445	GTC		PASS	0.627	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565		17	57	17	57	---	---	---	---
HMGB4	127540	broad.mit.edu	37	1	34330145	34330145	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:34330145G>C	ENST00000522796.1	+	4	2258	c.353G>C	c.(352-354)tGg>tCg	p.W118S	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Missense_Mutation_p.W118S|HMGB4_ENST00000425537.1_3'UTR			Q8WW32	HMGB4_HUMAN	high mobility group box 4	118						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.W118L(1)|p.W118S(1)		NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AACCCGAACTGGTCGGTGGTG	0.577																																						uc001bxp.2																			2	Substitution - Missense(2)		lung(2)		0						c.(352-354)TGG>TCG		HMG2 like isoform 1							82.0	85.0	84.0					1																	34330145		2203	4300	6503	SO:0001583	missense	127540					nucleus	DNA binding	g.chr1:34330145G>C		CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"""High-mobility group / Canonical"""	24954	protein-coding gene	gene with protein product			"""high-mobility group box 4"""				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	ENST00000522796.1:c.353G>C	1.37:g.34330145G>C	ENSP00000430919:p.Trp118Ser					CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_Missense_Mutation_p.W44S	p.W118S	NM_145205	NP_660206	Q8WW32	HMGB4_HUMAN			2	2096	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	118					B2R4X7|Q0QWA4	Missense_Mutation	SNP	ENST00000522796.1	37	c.353G>C	CCDS30668.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344209	0.41498	.	.	ENSG00000176256	ENST00000519684;ENST00000522796	D;D	0.97888	-4.59;-4.59	5.43	3.56	0.40772	.	0.321291	0.29225	N	0.012774	D	0.97514	0.9186	L	0.52573	1.65	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	D	0.96547	0.9405	10	0.66056	D	0.02	.	6.8235	0.23870	0.0874:0.0:0.7394:0.1732	.	118	B2R4X7	.	S	118	ENSP00000429214:W118S;ENSP00000430919:W118S	ENSP00000429214:W118S	W	+	2	0	HMGB4	34102732	1.000000	0.71417	0.277000	0.24703	0.439000	0.31926	3.855000	0.55957	0.861000	0.35504	0.609000	0.83330	TGG		PASS	0.577	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375773.1	NM_145205		15	73	15	73	---	---	---	---
GRIK3	2899	broad.mit.edu	37	1	37270665	37270665	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:37270665C>A	ENST00000373091.3	-	15	2504	c.2488G>T	c.(2488-2490)Gcc>Tcc	p.A830S	GRIK3_ENST00000373093.4_Missense_Mutation_p.A830S	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	830					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.A830S(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				ACCAGCCCGGCGGCCAGGACA	0.607																																						uc001caz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(2488-2490)GCC>TCC		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						57.0	66.0	63.0					1																	37270665		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37270665C>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2488G>T	1.37:g.37270665C>A	ENSP00000362183:p.Ala830Ser					GRIK3_uc001cba.1_Missense_Mutation_p.A830S	p.A830S	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			15	2623	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	830			Helical; (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.2488G>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669836	0.47677	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.55052	0.54;0.54	4.41	4.41	0.53225	Ionotropic glutamate receptor (1);	0.068466	0.64402	D	0.000011	T	0.45716	0.1356	L	0.29908	0.895	0.40623	D	0.981787	B;B	0.27625	0.183;0.026	B;B	0.35607	0.206;0.078	T	0.38286	-0.9668	10	0.19590	T	0.45	.	17.0164	0.86420	0.0:1.0:0.0:0.0	.	830;830	A9Z1Z8;Q13003	.;GRIK3_HUMAN	S	830	ENSP00000362183:A830S;ENSP00000362185:A830S	ENSP00000362183:A830S	A	-	1	0	GRIK3	37043252	0.994000	0.37717	0.998000	0.56505	0.996000	0.88848	3.251000	0.51453	1.979000	0.57680	0.551000	0.68910	GCC		PASS	0.607	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		39	58	39	58	---	---	---	---
IPO13	9670	broad.mit.edu	37	1	44415611	44415611	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:44415611C>A	ENST00000372343.3	+	2	1269	c.607C>A	c.(607-609)Ccg>Acg	p.P203T		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	203					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P203T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GGCTGTCTTCCCGCTGCTGGA	0.637																																						uc001ckx.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(607-609)CCG>ACG		importin 13							14.0	15.0	15.0					1																	44415611		2199	4296	6495	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44415611C>A	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.607C>A	1.37:g.44415611C>A	ENSP00000361418:p.Pro203Thr						p.P203T	NM_014652	NP_055467	O94829	IPO13_HUMAN			2	1402	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	203			HEAT 2.		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.607C>A	CCDS503.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814553	0.50527	.	.	ENSG00000117408	ENST00000372343	T	0.68479	-0.33	5.46	5.46	0.80206	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57681	0.2070	L	0.34521	1.04	0.80722	D	1	P	0.38473	0.633	B	0.38225	0.268	T	0.53940	-0.8367	10	0.12766	T	0.61	-8.0871	19.3078	0.94171	0.0:1.0:0.0:0.0	.	203	O94829	IPO13_HUMAN	T	203	ENSP00000361418:P203T	ENSP00000361418:P203T	P	+	1	0	IPO13	44188198	1.000000	0.71417	0.998000	0.56505	0.434000	0.31775	5.996000	0.70639	2.583000	0.87209	0.491000	0.48974	CCG		PASS	0.637	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		5	16	5	16	---	---	---	---
ERI3	79033	broad.mit.edu	37	1	44687311	44687311	+	Splice_Site	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:44687311G>A	ENST00000372257.2	-	9	1114	c.933C>T	c.(931-933)gaC>gaT	p.D311D	ERI3_ENST00000537474.1_Splice_Site_p.D134D|ERI3_ENST00000372259.5_Splice_Site_p.D196D	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	311	Exonuclease.						exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D311D(2)		endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCTTGCAGTCGTCTAAAAAGG	0.522																																						uc001clt.2																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(2)|large_intestine(1)	3						c.(931-933)GAC>GAT		prion protein interacting protein							130.0	117.0	122.0					1																	44687311		2203	4300	6503	SO:0001630	splice_region_variant	79033					intracellular	exonuclease activity|metal ion binding|nucleic acid binding	g.chr1:44687311G>A	AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"""Enhanced RNAi three prime mRNA exonucleases"""	17276	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)"", ""exoribonuclease 3"""	609917	"""prion protein interacting protein"""	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.932-1C>T	1.37:g.44687311G>A						ERI3_uc010okv.1_Silent_p.D134D|ERI3_uc009vxg.2_Silent_p.D339D|ERI3_uc010okw.1_Silent_p.D233D|ERI3_uc001clu.2_Missense_Mutation_p.T200M	p.D311D	NM_024066	NP_076971	O43414	ERI3_HUMAN			9	1174	-			311			Exonuclease.		B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	Silent	SNP	ENST00000372257.2	37	c.933C>T	CCDS30696.1																																																																																				PASS	0.522	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020243.1	NM_024066	Silent	14	50	14	50	---	---	---	---
PTCH2	8643	broad.mit.edu	37	1	45292393	45292393	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:45292393G>A	ENST00000372192.3	-	18	2873	c.2743C>T	c.(2743-2745)Cgt>Tgt	p.R915C	PTCH2_ENST00000447098.2_Missense_Mutation_p.R915C	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	915					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)	p.R915C(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGGAGGCCACGCAGCAGGAAG	0.687									Basal Cell Nevus syndrome																													uc010olf.1																			1	Substitution - Missense(1)		lung(1)	lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18						c.(2743-2745)CGT>TGT		patched 2							19.0	22.0	21.0					1																	45292393		2196	4284	6480	SO:0001583	missense	8643	Basal_Cell_Nevus_syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45292393G>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2743C>T	1.37:g.45292393G>A	ENSP00000361266:p.Arg915Cys					PTCH2_uc010olg.1_Missense_Mutation_p.R613C	p.R915C	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN			18	2755	-	Acute lymphoblastic leukemia(166;0.155)		915			Extracellular (Potential).		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.2743C>T	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.227051	0.58668	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.86097	-2.07;-2.07	3.89	3.89	0.44902	.	0.786871	0.11287	N	0.579682	T	0.80303	0.4598	N	0.12182	0.205	0.36512	D	0.86964	P;P	0.49783	0.901;0.928	P;P	0.53062	0.466;0.717	T	0.79412	-0.1814	10	0.44086	T	0.13	-32.8565	9.8657	0.41142	0.0:0.0:0.6451:0.3549	.	915;915	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	C	915	ENSP00000389703:R915C;ENSP00000361266:R915C	ENSP00000361266:R915C	R	-	1	0	PTCH2	45064980	1.000000	0.71417	0.913000	0.36048	0.991000	0.79684	6.322000	0.72886	2.462000	0.83206	0.563000	0.77884	CGT		PASS	0.687	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		4	29	4	29	---	---	---	---
ECHDC2	55268	broad.mit.edu	37	1	53370344	53370344	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:53370344C>A	ENST00000371522.4	-	7	769	c.676G>T	c.(676-678)Gca>Tca	p.A226S	ECHDC2_ENST00000536120.1_Missense_Mutation_p.A180S|ECHDC2_ENST00000358358.5_Missense_Mutation_p.A195S	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	226					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)	p.A195S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TGGGCCAGTGCTCGTGCCCGC	0.672																																						uc001cup.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(676-678)GCA>TCA		enoyl Coenzyme A hydratase domain containing 2							43.0	37.0	39.0					1																	53370344		2203	4300	6503	SO:0001583	missense	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53370344C>A	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.676G>T	1.37:g.53370344C>A	ENSP00000360577:p.Ala226Ser					ECHDC2_uc001cun.2_Missense_Mutation_p.A149S|ECHDC2_uc001cuo.3_Missense_Mutation_p.A195S|ECHDC2_uc010onk.1_Missense_Mutation_p.A180S	p.A226S	NM_018281	NP_060751	Q86YB7	ECHD2_HUMAN			7	922	-			226					D3DQ36|Q9NV38	Missense_Mutation	SNP	ENST00000371522.4	37	c.676G>T	CCDS55600.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.054016	0.36277	.	.	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000536120;ENST00000467988	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-0.24	4.24	3.31	0.37934	.	0.464509	0.24757	N	0.035842	T	0.59609	0.2206	N	0.16307	0.4	0.18873	N	0.999988	B;B	0.20164	0.007;0.042	B;B	0.20384	0.029;0.017	T	0.45614	-0.9249	10	0.25106	T	0.35	.	8.8285	0.35069	0.0:0.811:0.0:0.189	.	226;195	Q86YB7;Q86YB7-2	ECHD2_HUMAN;.	S	226;195;180;195	ENSP00000360577:A226S;ENSP00000351125:A195S;ENSP00000439264:A180S;ENSP00000441962:A195S	ENSP00000351125:A195S	A	-	1	0	ECHDC2	53142932	0.000000	0.05858	0.008000	0.14137	0.987000	0.75469	0.798000	0.27014	1.097000	0.41459	0.491000	0.48974	GCA		PASS	0.672	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		8	22	8	22	---	---	---	---
C1orf87	127795	broad.mit.edu	37	1	60538308	60538308	+	Nonsense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:60538308G>C	ENST00000371201.3	-	2	115	c.8C>G	c.(7-9)tCa>tGa	p.S3*	C1orf87_ENST00000450089.2_Nonsense_Mutation_p.S3*	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	3							calcium ion binding (GO:0005509)	p.S3*(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTTCCAGGCTGAAGACATGAT	0.428																																					NSCLC(75;811 1386 4923 13371 51772)	uc001czs.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)	2						c.(7-9)TCA>TGA		hypothetical protein LOC127795							110.0	99.0	103.0					1																	60538308		2203	4300	6503	SO:0001587	stop_gained	127795						calcium ion binding	g.chr1:60538308G>C	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.8C>G	1.37:g.60538308G>C	ENSP00000360244:p.Ser3*						p.S3*	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN			2	100	-			3					Q6ZU07|Q8IVS0	Nonsense_Mutation	SNP	ENST00000371201.3	37	c.8C>G	CCDS614.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993797	0.74703	.	.	ENSG00000162598	ENST00000371201;ENST00000450089	.	.	.	5.13	3.12	0.35913	.	0.885835	0.09669	N	0.771438	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-0.5345	6.5248	0.22295	0.2429:0.0:0.7571:0.0	.	.	.	.	X	3	.	ENSP00000360244:S3X	S	-	2	0	C1orf87	60310896	0.174000	0.23070	0.012000	0.15200	0.060000	0.15804	1.554000	0.36266	0.742000	0.32697	0.650000	0.86243	TCA		PASS	0.428	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		30	70	30	70	---	---	---	---
INADL	10207	broad.mit.edu	37	1	62503707	62503707	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:62503707C>G	ENST00000371158.2	+	30	4132	c.4018C>G	c.(4018-4020)Cca>Gca	p.P1340A	INADL_ENST00000545929.1_Missense_Mutation_p.P13A|INADL_ENST00000316485.6_Missense_Mutation_p.P1340A|INADL_ENST00000543708.1_Missense_Mutation_p.P124A	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1340					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.P1340A(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATCAAGTTCTCCATCTTCTAT	0.383																																						uc001dab.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(4018-4020)CCA>GCA		InaD-like							175.0	142.0	154.0					1																	62503707		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62503707C>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4018C>G	1.37:g.62503707C>G	ENSP00000360200:p.Pro1340Ala					INADL_uc009waf.1_Missense_Mutation_p.P1340A|INADL_uc001daa.2_Missense_Mutation_p.P1340A|INADL_uc001dad.3_Missense_Mutation_p.P1037A|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Missense_Mutation_p.P124A|INADL_uc009wag.2_Missense_Mutation_p.P124A|INADL_uc010oou.1_Missense_Mutation_p.P13A	p.P1340A	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			30	4132	+			1340					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.4018C>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480292	0.26598	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000307297;ENST00000543708;ENST00000545929	T;T;T;T;T	0.32272	2.61;2.53;3.08;2.15;1.46	4.93	4.02	0.46733	.	0.330243	0.26334	N	0.024976	T	0.29389	0.0732	M	0.65498	2.005	0.26586	N	0.973293	B;B;B;B;B;B	0.33883	0.341;0.121;0.141;0.43;0.042;0.191	B;B;B;B;B;B	0.31101	0.124;0.021;0.078;0.122;0.012;0.069	T	0.15636	-1.0430	10	0.33940	T	0.23	.	10.4815	0.44695	0.0:0.9088:0.0:0.0912	.	13;124;799;1340;1340;1340	F5GY89;B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;.;INADL_HUMAN;.	A	1340;1340;1340;1340;124;124;13	ENSP00000360200:P1340A;ENSP00000326199:P1340A;ENSP00000307496:P124A;ENSP00000445790:P124A;ENSP00000440094:P13A	ENSP00000307496:P124A	P	+	1	0	INADL	62276295	0.678000	0.27586	0.055000	0.19348	0.211000	0.24417	2.663000	0.46774	1.294000	0.44707	0.655000	0.94253	CCA		PASS	0.383	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		8	61	8	61	---	---	---	---
L1TD1	54596	broad.mit.edu	37	1	62675738	62675738	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:62675738G>T	ENST00000498273.1	+	4	1587	c.1292G>T	c.(1291-1293)gGg>gTg	p.G431V	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	431	Glu-rich.							p.G431V(1)|p.G431L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						gaggcctcagggctagaggag	0.527																																						uc001dae.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1291-1293)GGG>GTG		LINE-1 type transposase domain containing 1							51.0	50.0	50.0					1																	62675738		2203	4300	6503	SO:0001583	missense	54596							g.chr1:62675738G>T	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1292G>T	1.37:g.62675738G>T	ENSP00000419901:p.Gly431Val						p.G431V	NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN			4	1594	+			431			Glu-rich.		Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	c.1292G>T	CCDS619.1	.	.	.	.	.	.	.	.	.	.	g	1.646	-0.515345	0.04200	.	.	ENSG00000240563	ENST00000498273	T	0.13420	2.59	2.68	-5.35	0.02697	.	.	.	.	.	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31916	-0.9926	9	0.48119	T	0.1	.	5.8737	0.18816	0.1815:0.0:0.4572:0.3613	.	431	Q5T7N2	LITD1_HUMAN	V	431	ENSP00000419901:G431V	ENSP00000419901:G431V	G	+	2	0	L1TD1	62448326	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.126000	0.01316	-3.282000	0.00197	-3.982000	0.00014	GGG		PASS	0.527	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		13	39	13	39	---	---	---	---
DNAJC6	9829	broad.mit.edu	37	1	65855271	65855271	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:65855271T>C	ENST00000395325.3	+	11	1415	c.1258T>C	c.(1258-1260)Tac>Cac	p.Y420H	DNAJC6_ENST00000371069.4_Missense_Mutation_p.Y477H|DNAJC6_ENST00000263441.7_Missense_Mutation_p.Y407H	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	420					cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)	p.Y420H(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CCCCAGGCATTACGGACAAAG	0.403																																						uc001dcd.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(1258-1260)TAC>CAC		DnaJ (Hsp40) homolog, subfamily C, member 6							178.0	164.0	169.0					1																	65855271		2203	4300	6503	SO:0001583	missense	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65855271T>C	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1258T>C	1.37:g.65855271T>C	ENSP00000378735:p.Tyr420His					DNAJC6_uc001dcc.1_Missense_Mutation_p.Y451H|DNAJC6_uc010opc.1_Missense_Mutation_p.Y407H|DNAJC6_uc001dce.1_Missense_Mutation_p.Y477H	p.Y420H	NM_014787	NP_055602	O75061	AUXI_HUMAN			11	1422	+			420					B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	c.1258T>C	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	T	3.932	-0.015987	0.07681	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.92647	-3.06;-3.07;-3.08	5.46	-2.45	0.06481	.	1.361810	0.04089	N	0.310893	T	0.65176	0.2666	N	0.08118	0	0.09310	N	1	B;B;B	0.27997	0.197;0.011;0.011	B;B;B	0.23419	0.046;0.003;0.002	T	0.62959	-0.6743	10	0.14252	T	0.57	.	9.7154	0.40272	0.0:0.2409:0.5655:0.1936	.	477;420;407	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	H	407;420;477	ENSP00000263441:Y407H;ENSP00000378735:Y420H;ENSP00000360108:Y477H	ENSP00000263441:Y407H	Y	+	1	0	DNAJC6	65627859	0.059000	0.20769	0.012000	0.15200	0.173000	0.22820	0.667000	0.25112	-0.262000	0.09392	-0.313000	0.08912	TAC		PASS	0.403	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			16	119	16	119	---	---	---	---
IL23R	149233	broad.mit.edu	37	1	67724192	67724192	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:67724192G>A	ENST00000347310.5	+	11	1442	c.1271G>A	c.(1270-1272)aGt>aAt	p.S424N	IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Missense_Mutation_p.S169N	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	424					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)		p.S424N(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AATAATTCCAGTGAGCAGGTC	0.343																																						uc001ddo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1270-1272)AGT>AAT		interleukin 23 receptor precursor							98.0	116.0	110.0					1																	67724192		2202	4299	6501	SO:0001583	missense	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67724192G>A	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1271G>A	1.37:g.67724192G>A	ENSP00000321345:p.Ser424Asn					IL23R_uc009waz.2_Missense_Mutation_p.S221N|IL23R_uc001ddp.2_Intron|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Missense_Mutation_p.S22N|IL23R_uc010opk.1_3'UTR|IL23R_uc010opl.1_Missense_Mutation_p.S6N|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Missense_Mutation_p.S170N|IL23R_uc010opn.1_Missense_Mutation_p.S269N|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Intron|IL23R_uc010opp.1_Intron|IL23R_uc010opq.1_Intron|IL23R_uc010opr.1_Intron|IL23R_uc010ops.1_Missense_Mutation_p.S221N|IL23R_uc010opt.1_Missense_Mutation_p.S65N|IL23R_uc010opu.1_Missense_Mutation_p.S120N|IL23R_uc010opv.1_Missense_Mutation_p.S182N|IL23R_uc010opw.1_Missense_Mutation_p.S59N|IL23R_uc010opx.1_Missense_Mutation_p.S65N|IL23R_uc010opy.1_Missense_Mutation_p.S191N|IL23R_uc010opz.1_Missense_Mutation_p.S65N|IL23R_uc010oqa.1_Missense_Mutation_p.S65N|IL23R_uc010oqb.1_Missense_Mutation_p.S253N|IL23R_uc010oqc.1_Missense_Mutation_p.S140N|IL23R_uc010oqd.1_Missense_Mutation_p.S59N|IL23R_uc010oqe.1_Missense_Mutation_p.S22N|IL23R_uc010oqf.1_Missense_Mutation_p.S22N|IL23R_uc010oqg.1_Missense_Mutation_p.S22N|IL23R_uc010oqh.1_Missense_Mutation_p.S65N|IL23R_uc001dds.2_Missense_Mutation_p.S169N|IL23R_uc001ddt.2_Missense_Mutation_p.S22N	p.S424N	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN			11	1356	+			424			Cytoplasmic (Potential).		C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	ENST00000347310.5	37	c.1271G>A	CCDS637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.96|12.96	2.094067|2.094067	0.36952|0.36952	.|.	.|.	ENSG00000162594|ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000441823;ENST00000395227|ENST00000425614	T;T|.	0.40225|.	1.04;1.16|.	6.07|6.07	5.16|5.16	0.70880|0.70880	.|.	0.296920|.	0.41605|.	D|.	0.000853|.	T|T	0.40595|0.40595	0.1123|0.1123	M|M	0.66939|0.66939	2.045|2.045	0.09310|0.09310	N|N	1|1	P;D;P;P;P;P;D|.	0.76494|.	0.867;0.998;0.956;0.923;0.956;0.923;0.999|.	P;D;P;P;P;P;D|.	0.71656|.	0.463;0.943;0.656;0.463;0.656;0.56;0.974|.	T|T	0.37596|0.37596	-0.9699|-0.9699	10|5	0.87932|.	D|.	0|.	.|.	11.4512|11.4512	0.50154|0.50154	0.0824:0.0:0.9176:0.0|0.0824:0.0:0.9176:0.0	.|.	170;248;59;182;22;169;424|.	Q5VWK5-2;B6HY71;Q5VWK5-5;E9PHX4;Q5VWK5-7;Q5VWK5-6;Q5VWK5|.	.;.;.;.;.;.;IL23R_HUMAN|.	N|M	424;253;182;169|186	ENSP00000321345:S424N;ENSP00000378652:S169N|.	ENSP00000321345:S424N|.	S|V	+|+	2|1	0|0	IL23R|IL23R	67496780|67496780	0.001000|0.001000	0.12720|0.12720	0.393000|0.393000	0.26258|0.26258	0.674000|0.674000	0.39518|0.39518	1.025000|1.025000	0.30090|0.30090	1.581000|1.581000	0.49865|0.49865	0.655000|0.655000	0.94253|0.94253	AGT|GTG		PASS	0.343	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		11	246	11	246	---	---	---	---
RPE65	6121	broad.mit.edu	37	1	68910529	68910529	+	Missense_Mutation	SNP	C	C	G	rs61752874		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:68910529C>G	ENST00000262340.5	-	4	336	c.283G>C	c.(283-285)Gag>Cag	p.E95Q		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	95			E -> Q (in RP20). {ECO:0000269|PubMed:11095629}.		cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)	p.E95Q(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						ATCCTTTTCTCAGTCATTGCC	0.448																																						uc001dei.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1	GRCh37	CM005351	RPE65	M	rs61752874	c.(283-285)GAG>CAG		retinal pigment epithelium-specific protein							94.0	86.0	89.0					1																	68910529		2203	4300	6503	SO:0001583	missense	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68910529C>G	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.283G>C	1.37:g.68910529C>G	ENSP00000262340:p.Glu95Gln						p.E95Q	NM_000329	NP_000320	Q16518	RPE65_HUMAN			4	337	-			95		E -> Q (in RP20).			A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	37	c.283G>C	CCDS643.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682675	0.47991	.	.	ENSG00000116745	ENST00000262340	D	0.94793	-3.52	4.88	4.88	0.63580	.	0.093207	0.64402	D	0.000001	D	0.89959	0.6866	L	0.50847	1.595	0.80722	D	1	B	0.15930	0.015	B	0.18871	0.023	D	0.86369	0.1722	10	0.38643	T	0.18	-3.7506	18.2168	0.89889	0.0:1.0:0.0:0.0	rs61752874	95	Q16518	RPE65_HUMAN	Q	95	ENSP00000262340:E95Q	ENSP00000262340:E95Q	E	-	1	0	RPE65	68683117	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.320000	0.79064	2.545000	0.85829	0.655000	0.94253	GAG		PASS	0.448	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329		17	93	17	93	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70477548	70477548	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:70477548A>T	ENST00000035383.5	+	10	989	c.959A>T	c.(958-960)tAc>tTc	p.Y320F	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000310961.5_Missense_Mutation_p.Y325F|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	320						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.Y320F(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACTATTGGCTACCTTCATAGT	0.308																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(958-960)TAC>TTC		leucine rich repeat containing 7							51.0	51.0	51.0					1																	70477548		2202	4293	6495	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70477548A>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.959A>T	1.37:g.70477548A>T	ENSP00000035383:p.Tyr320Phe					LRRC7_uc009wbg.2_5'UTR	p.Y320F	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			10	989	+			320			LRR 13.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.959A>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908432	0.52333	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.16743	2.32;2.32	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.06554	0.0168	N	0.08118	0	0.80722	D	1	D	0.53151	0.958	P	0.51487	0.671	T	0.39482	-0.9612	10	0.15499	T	0.54	.	13.8786	0.63670	1.0:0.0:0.0:0.0	.	320	Q96NW7	LRRC7_HUMAN	F	325;320;143	ENSP00000309245:Y325F;ENSP00000035383:Y320F	ENSP00000035383:Y320F	Y	+	2	0	LRRC7	70250136	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	8.843000	0.92142	2.012000	0.59069	0.528000	0.53228	TAC		PASS	0.308	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		13	50	13	50	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74507411	74507411	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:74507411G>A	ENST00000395089.1	-	6	1203	c.1204C>T	c.(1204-1206)Cgg>Tgg	p.R402W	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.R402W			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	402								p.R402W(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTCATACTCCGCTCCAATCGT	0.348																																						uc001dfy.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1204-1206)CGG>TGG		leucine-rich repeats and IQ motif containing 3							107.0	98.0	101.0					1																	74507411		1837	4088	5925	SO:0001583	missense	127255							g.chr1:74507411G>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1204C>T	1.37:g.74507411G>A	ENSP00000378524:p.Arg402Trp					LRRIQ3_uc001dfz.3_RNA	p.R402W	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			7	1396	-			402					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1204C>T	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907546	0.33721	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.13307	2.6;2.6	5.77	-1.25	0.09405	.	1.286310	0.05602	N	0.576532	T	0.03178	0.0093	N	0.19112	0.55	0.09310	N	1	D	0.63880	0.993	B	0.44315	0.446	T	0.25606	-1.0127	10	0.72032	D	0.01	.	3.6189	0.08087	0.1297:0.0775:0.427:0.3658	.	402	A6PVS8	LRIQ3_HUMAN	W	402	ENSP00000378524:R402W;ENSP00000346414:R402W	ENSP00000346414:R402W	R	-	1	2	LRRIQ3	74279999	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.623000	0.24447	-0.066000	0.12998	-1.609000	0.00803	CGG		PASS	0.348	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		42	64	42	64	---	---	---	---
ASB17	127247	broad.mit.edu	37	1	76384686	76384686	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:76384686G>A	ENST00000284142.6	-	3	978	c.839C>T	c.(838-840)tCa>tTa	p.S280L		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	280	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.S280L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						AATTAGAAGTGAAAATATTCC	0.348																																						uc001dhe.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(838-840)TCA>TTA		ankyrin repeat and SOCS box-containing 17							161.0	163.0	162.0					1																	76384686		2203	4299	6502	SO:0001583	missense	127247				intracellular signal transduction			g.chr1:76384686G>A	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.839C>T	1.37:g.76384686G>A	ENSP00000284142:p.Ser280Leu					ASB17_uc001dhf.1_RNA	p.S280L	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN			3	979	-			280			SOCS box.		B1APB8|Q8N0X5	Missense_Mutation	SNP	ENST00000284142.6	37	c.839C>T	CCDS671.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.776965	0.70107	.	.	ENSG00000154007	ENST00000284142	T	0.45276	0.9	4.74	3.83	0.44106	SOCS protein, C-terminal (3);	0.000000	0.41712	D	0.000827	T	0.13713	0.0332	N	0.24115	0.695	0.33149	D	0.54538	B	0.18610	0.029	B	0.17098	0.017	T	0.06058	-1.0848	10	0.87932	D	0	.	8.9012	0.35497	0.106:0.0:0.894:0.0	.	280	Q8WXJ9	ASB17_HUMAN	L	280	ENSP00000284142:S280L	ENSP00000284142:S280L	S	-	2	0	ASB17	76157274	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	4.847000	0.62867	0.983000	0.38602	0.544000	0.68410	TCA		PASS	0.348	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		23	81	23	81	---	---	---	---
PTGFR	5737	broad.mit.edu	37	1	78959186	78959186	+	Missense_Mutation	SNP	C	C	A	rs145816454		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:78959186C>A	ENST00000370757.3	+	2	995	c.758C>A	c.(757-759)gCg>gAg	p.A253E	PTGFR_ENST00000370756.3_Missense_Mutation_p.A253E|PTGFR_ENST00000370758.1_Missense_Mutation_p.A253E	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	253					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.A253V(2)|p.A253E(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	CAGCTCCTGGCGATAATGTGT	0.393																																						uc001din.2																			4	Substitution - Missense(4)	p.A253V(2)	ovary(2)|lung(2)	ovary(3)|breast(2)|skin(1)	6						c.(757-759)GCG>GAG		prostaglandin F receptor isoform a precursor	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						52.0	50.0	51.0					1																	78959186		2203	4300	6503	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:78959186C>A	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.758C>A	1.37:g.78959186C>A	ENSP00000359793:p.Ala253Glu					PTGFR_uc001dim.2_Missense_Mutation_p.A253E	p.A253E	NM_000959	NP_000950	P43088	PF2R_HUMAN		Colorectal(170;0.248)	2	1024	+			253			Helical; Name=6; (Potential).		A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.758C>A	CCDS686.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264310	0.39995	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	T;T;T	0.40225	1.04;1.04;1.04	5.7	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.177888	0.49305	D	0.000145	T	0.49081	0.1536	L	0.50333	1.59	0.43403	D	0.995534	D;D	0.67145	0.991;0.996	P;D	0.65443	0.892;0.935	T	0.55088	-0.8195	10	0.62326	D	0.03	-5.1067	17.0929	0.86627	0.0:0.866:0.134:0.0	.	253;253	P43088;P43088-2	PF2R_HUMAN;.	E	253	ENSP00000359794:A253E;ENSP00000359793:A253E;ENSP00000359792:A253E	ENSP00000359792:A253E	A	+	2	0	PTGFR	78731774	0.978000	0.34361	0.901000	0.35422	0.251000	0.25915	2.473000	0.45145	1.532000	0.49169	0.655000	0.94253	GCG		PASS	0.393	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		10	73	10	73	---	---	---	---
CLCA1	1179	broad.mit.edu	37	1	86965439	86965439	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:86965439C>T	ENST00000234701.3	+	15	2807	c.2456C>T	c.(2455-2457)gCc>gTc	p.A819V	CLCA1_ENST00000394711.1_Missense_Mutation_p.A819V			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	819					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)	p.A819V(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CCAAAGGAAGCCAACTCTGAG	0.363																																						uc001dlt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2455-2457)GCC>GTC		chloride channel accessory 1 precursor							107.0	111.0	109.0					1																	86965439		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86965439C>T		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.2456C>T	1.37:g.86965439C>T	ENSP00000234701:p.Ala819Val						p.A819V	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	14	2585	+		Lung NSC(277;0.239)	819					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.2456C>T	CCDS709.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869294	0.72065	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.03607	3.87;3.87	5.59	3.74	0.42951	.	0.264740	0.37906	N	0.001899	T	0.06416	0.0165	M	0.92077	3.27	0.35236	D	0.777361	P	0.46621	0.881	P	0.45037	0.467	T	0.04333	-1.0959	10	0.72032	D	0.01	-7.9883	11.8993	0.52673	0.0:0.8573:0.0:0.1427	.	819	A8K7I4	CLCA1_HUMAN	V	819	ENSP00000234701:A819V;ENSP00000378200:A819V	ENSP00000234701:A819V	A	+	2	0	CLCA1	86738027	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	2.215000	0.42862	0.736000	0.32559	0.555000	0.69702	GCC		PASS	0.363	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		35	117	35	117	---	---	---	---
GLMN	11146	broad.mit.edu	37	1	92763522	92763522	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:92763522C>T	ENST00000370360.3	-	2	116	c.35G>A	c.(34-36)aGa>aAa	p.R12K	GLMN_ENST00000534881.1_Missense_Mutation_p.R12K|RPAP2_ENST00000610020.1_5'Flank	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	12					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)	p.R12K(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		ACTTACACATCTCTTTATTAT	0.294									Multiple Glomus Tumors (of the Skin), Familial																													uc001dor.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(34-36)AGA>AAA		glomulin							63.0	66.0	65.0					1																	92763522		2202	4290	6492	SO:0001583	missense	11146	Multiple_Glomus_Tumors_(of_the_Skin)_Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92763522C>T	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.35G>A	1.37:g.92763522C>T	ENSP00000359385:p.Arg12Lys					RPAP2_uc001dot.2_5'Flank|RPAP2_uc009wdh.2_5'Flank|GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.R12K	p.R12K	NM_053274	NP_444504	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	2	150	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	12					Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	c.35G>A	CCDS738.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415591	0.62511	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.48836	0.8;0.8	4.91	4.0	0.46444	.	0.157805	0.56097	N	0.000031	T	0.16811	0.0404	L	0.35487	1.065	0.42144	D	0.991529	B;B	0.09022	0.002;0.001	B;B	0.16722	0.016;0.011	T	0.06215	-1.0839	10	0.17832	T	0.49	-9.2411	9.3519	0.38142	0.0:0.8376:0.0:0.1624	.	12;12	B4DJ85;Q92990	.;GLMN_HUMAN	K	12	ENSP00000359385:R12K;ENSP00000440156:R12K	ENSP00000359385:R12K	R	-	2	0	GLMN	92536110	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.716000	0.47219	1.074000	0.40909	0.462000	0.41574	AGA		PASS	0.294	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		10	53	10	53	---	---	---	---
BCAR3	8412	broad.mit.edu	37	1	94037322	94037322	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:94037322G>C	ENST00000370244.1	-	11	2167	c.1879C>G	c.(1879-1881)Ctg>Gtg	p.L627V	BCAR3_ENST00000539242.1_Missense_Mutation_p.L303V|BCAR3_ENST00000370247.3_Missense_Mutation_p.L536V|BCAR3_ENST00000260502.6_Missense_Mutation_p.L627V|BCAR3_ENST00000370243.1_Missense_Mutation_p.L627V	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	627	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)	p.L627V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		ATCTTACTCAGAGTGGCCGCT	0.542																																						uc001dpz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1879-1881)CTG>GTG		breast cancer antiestrogen resistance 3							109.0	107.0	107.0					1																	94037322		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94037322G>C	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.1879C>G	1.37:g.94037322G>C	ENSP00000359264:p.Leu627Val					BCAR3_uc001dqa.2_Missense_Mutation_p.L627V|BCAR3_uc001dqb.2_Missense_Mutation_p.L627V|BCAR3_uc001dpx.3_Missense_Mutation_p.L303V|BCAR3_uc001dpy.2_Missense_Mutation_p.L536V|BCAR3_uc009wdm.1_Missense_Mutation_p.L303V	p.L627V	NM_003567	NP_003558	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	9	2154	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	627			Ras-GEF.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.1879C>G	CCDS745.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498347	0.44455	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29	5.73	4.81	0.61882	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	M	0.77103	2.36	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.87578	0.998;0.973;0.998	T	0.52313	-0.8592	10	0.62326	D	0.03	-26.354	7.6492	0.28337	0.2533:0.0:0.7467:0.0	.	407;627;536	B3KNL6;O75815;Q5TEW3	.;BCAR3_HUMAN;.	V	536;627;627;627;303	ENSP00000359267:L536V;ENSP00000260502:L627V;ENSP00000359264:L627V;ENSP00000359263:L627V;ENSP00000441343:L303V	ENSP00000260502:L627V	L	-	1	2	BCAR3	93809910	1.000000	0.71417	0.998000	0.56505	0.127000	0.20565	3.224000	0.51238	2.696000	0.92011	0.655000	0.94253	CTG		PASS	0.542	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			31	133	31	133	---	---	---	---
F3	2152	broad.mit.edu	37	1	94998715	94998715	+	Missense_Mutation	SNP	G	G	C	rs200192517	byFrequency	TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:94998715G>C	ENST00000334047.7	-	4	685	c.522C>G	c.(520-522)agC>agG	p.S174R	F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Missense_Mutation_p.S174R	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	174					activation of blood coagulation via clotting cascade (GO:0002543)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of plasma proteins involved in acute inflammatory response (GO:0002541)|blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|protease binding (GO:0002020)	p.S174R(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CATCCCGGAGGCTTAGGAAAG	0.373													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18800	0.0		0.0	False		,,,				2504	0.0				Melanoma(40;358 1339 15970 39161)	uc001dqr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(520-522)AGC>AGG		coagulation factor III precursor	Coagulation factor VIIa(DB00036)	G	ARG/SER,ARG/SER	1,4405	2.1+/-5.4	0,1,2202	106.0	97.0	100.0		522,522	3.6	1.0	1		100	0,8600		0,0,4300	no	missense,missense	F3	NM_001178096.1,NM_001993.4	110,110	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	benign,benign	174/239,174/296	94998715	1,13005	2203	4300	6503	SO:0001583	missense	2152				activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding	g.chr1:94998715G>C	BC011029	CCDS750.1, CCDS53345.1	1p22-p21	2012-10-02			ENSG00000117525	ENSG00000117525		"""CD molecules"""	3541	protein-coding gene	gene with protein product		134390					Standard	NM_001993		Approved	CD142	uc001dqr.3	P13726	OTTHUMG00000010716	ENST00000334047.7:c.522C>G	1.37:g.94998715G>C	ENSP00000334145:p.Ser174Arg					F3_uc001dqp.2_RNA|F3_uc001dqq.2_RNA|F3_uc001dqs.2_Missense_Mutation_p.S174R	p.S174R	NM_001993	NP_001984	P13726	TF_HUMAN		all cancers(265;0.0232)|Epithelial(280;0.121)	4	701	-		all_lung(203;0.00106)|Lung NSC(277;0.00475)	174			Extracellular (Potential).		D3DT47|Q6FHG2|Q86WH4	Missense_Mutation	SNP	ENST00000334047.7	37	c.522C>G	CCDS750.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460068	0.43736	2.27E-4	0.0	ENSG00000117525	ENST00000334047;ENST00000370207	T;T	0.34667	1.35;1.35	5.53	3.62	0.41486	Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.375514	0.35555	N	0.003123	T	0.21145	0.0509	L	0.52126	1.63	0.33319	D	0.567078	B;P	0.44627	0.369;0.839	B;P	0.45119	0.124;0.47	T	0.05835	-1.0861	10	0.59425	D	0.04	.	9.1674	0.37060	0.1724:0.0:0.8276:0.0	.	174;174	P13726-2;P13726	.;TF_HUMAN	R	174	ENSP00000334145:S174R;ENSP00000359226:S174R	ENSP00000334145:S174R	S	-	3	2	F3	94771303	0.867000	0.29959	0.979000	0.43373	0.890000	0.51754	0.299000	0.19138	0.682000	0.31407	0.650000	0.86243	AGC		PASS	0.373	F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029593.1	NM_001993		10	57	10	57	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103540304	103540304	+	Missense_Mutation	SNP	T	T	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:103540304T>A	ENST00000370096.3	-	4	833	c.521A>T	c.(520-522)aAa>aTa	p.K174I	COL11A1_ENST00000358392.2_Missense_Mutation_p.K174I|COL11A1_ENST00000353414.4_Missense_Mutation_p.K174I|COL11A1_ENST00000512756.1_Missense_Mutation_p.K174I	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	174	Laminin G-like.				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.K174I(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGTCACAGTTTTCTTCTCCAC	0.383																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(520-522)AAA>ATA		alpha 1 type XI collagen isoform A							158.0	137.0	144.0					1																	103540304		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.chr1:103540304T>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.521A>T	1.37:g.103540304T>A	ENSP00000359114:p.Lys174Ile					COL11A1_uc001dum.2_Missense_Mutation_p.K174I|COL11A1_uc001dun.2_Missense_Mutation_p.K174I|COL11A1_uc009weh.2_Missense_Mutation_p.K174I	p.K174I	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	4	839	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	174			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.521A>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.656403	0.67586	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.02323	4.34;4.34;4.34;4.34;4.34;4.34	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.049209	0.85682	D	0.000000	T	0.12518	0.0304	M	0.90145	3.09	0.58432	D	0.999998	D;D;D;D	0.62365	0.991;0.989;0.989;0.991	D;P;P;D	0.64877	0.93;0.885;0.885;0.93	T	0.00989	-1.1489	10	0.72032	D	0.01	.	16.0191	0.80468	0.0:0.0:0.0:1.0	.	174;174;174;174	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	I	174;174;174;174;174;101	ENSP00000359114:K174I;ENSP00000351163:K174I;ENSP00000302551:K174I;ENSP00000426533:K174I;ENSP00000408640:K174I;ENSP00000410177:K101I	ENSP00000302551:K174I	K	-	2	0	COL11A1	103312892	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.290000	0.72712	2.174000	0.68829	0.528000	0.53228	AAA		PASS	0.383	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		19	46	19	46	---	---	---	---
GPSM2	29899	broad.mit.edu	37	1	109441604	109441604	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:109441604C>A	ENST00000406462.2	+	8	1558	c.785C>A	c.(784-786)tCg>tAg	p.S262*	GPSM2_ENST00000264126.3_Nonsense_Mutation_p.S262*|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	262					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)	p.S255*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		GAAACTGCCTCGGAATACTAC	0.323																																						uc010ovc.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(784-786)TCG>TAG		LGN protein							41.0	45.0	44.0					1																	109441604		2202	4300	6502	SO:0001587	stop_gained	29899				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding	g.chr1:109441604C>A	AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.785C>A	1.37:g.109441604C>A	ENSP00000385510:p.Ser262*					AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Nonsense_Mutation_p.S262*|GPSM2_uc010ove.1_Nonsense_Mutation_p.S262*	p.S262*	NM_013296	NP_037428	P81274	GPSM2_HUMAN		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)	7	1281	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	262			TPR 6.		Q5T1N8|Q6IBL7|Q8N0Z5	Nonsense_Mutation	SNP	ENST00000406462.2	37	c.785C>A	CCDS792.2	.	.	.	.	.	.	.	.	.	.	C	40	8.128353	0.98667	.	.	ENSG00000121957	ENST00000406462;ENST00000264126	.	.	.	5.94	5.94	0.96194	.	0.105207	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-21.4416	19.9687	0.97276	0.0:1.0:0.0:0.0	.	.	.	.	X	262	.	ENSP00000264126:S262X	S	+	2	0	GPSM2	109243127	1.000000	0.71417	0.999000	0.59377	0.774000	0.43823	6.032000	0.70918	2.820000	0.97059	0.650000	0.86243	TCG		PASS	0.323	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296		3	36	3	36	---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109794997	109794997	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:109794997G>A	ENST00000271332.3	+	1	2357	c.2296G>A	c.(2296-2298)Gct>Act	p.A766T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	766	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.A766T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGACACGGGGGCTGTCACCAC	0.582																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)|skin(1)	8						c.(2296-2298)GCT>ACT		cadherin EGF LAG seven-pass G-type receptor 2							62.0	54.0	57.0					1																	109794997		2202	4300	6502	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109794997G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2296G>A	1.37:g.109794997G>A	ENSP00000271332:p.Ala766Thr						p.A766T	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	2357	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	766			Cadherin 6.|Extracellular (Potential).		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.2296G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	16.84	3.234616	0.58886	.	.	ENSG00000143126	ENST00000271332	T	0.01787	4.64	4.51	4.51	0.55191	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01353	0.0044	L	0.35542	1.07	0.52501	D	0.999957	B	0.27910	0.193	B	0.42882	0.401	T	0.61959	-0.6955	9	0.28530	T	0.3	.	11.3481	0.49573	0.0837:0.0:0.9163:0.0	.	766	Q9HCU4	CELR2_HUMAN	T	766	ENSP00000271332:A766T	ENSP00000271332:A766T	A	+	1	0	CELSR2	109596520	0.998000	0.40836	0.895000	0.35142	0.928000	0.56348	3.309000	0.51903	2.531000	0.85337	0.555000	0.69702	GCT		PASS	0.582	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		15	35	15	35	---	---	---	---
PROK1	84432	broad.mit.edu	37	1	110996617	110996617	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:110996617C>A	ENST00000271331.3	+	2	124	c.107C>A	c.(106-108)aCc>aAc	p.T36N	RP11-470L19.5_ENST00000481350.2_RNA	NM_032414.2	NP_115790.1	P58294	PROK1_HUMAN	prokineticin 1	36					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|regulation of angiogenesis (GO:0045765)	extracellular region (GO:0005576)		p.T36N(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGGCAGGCACCTGCTGTGCC	0.627																																						uc001dzs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(106-108)ACC>AAC		prokineticin 1 precursor							63.0	57.0	59.0					1																	110996617		2203	4300	6503	SO:0001583	missense	84432				angiogenesis|positive regulation of cell division	extracellular region	growth factor activity	g.chr1:110996617C>A	AF333024	CCDS825.1	1p21	2013-02-28			ENSG00000143125	ENSG00000143125		"""Endogenous ligands"""	18454	protein-coding gene	gene with protein product	"""black mamba toxin-related protein"", ""mambakine"""	606233				11259612	Standard	NM_032414		Approved	PK1, PRK1, EGVEGF	uc001dzs.3	P58294	OTTHUMG00000011569	ENST00000271331.3:c.107C>A	1.37:g.110996617C>A	ENSP00000271331:p.Thr36Asn						p.T36N	NM_032414	NP_115790	P58294	PROK1_HUMAN		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	158	+		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	36					Q5VWD4|Q8TC69	Missense_Mutation	SNP	ENST00000271331.3	37	c.107C>A	CCDS825.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090456	0.76756	.	.	ENSG00000143125	ENST00000271331	D	0.84800	-1.9	5.38	5.38	0.77491	Prokineticin domain (2);	0.179521	0.50627	D	0.000102	D	0.90714	0.7086	M	0.79475	2.455	0.37862	D	0.929764	D	0.71674	0.998	D	0.64321	0.924	D	0.91383	0.5129	10	0.62326	D	0.03	.	18.2502	0.90000	0.0:1.0:0.0:0.0	.	36	P58294	PROK1_HUMAN	N	36	ENSP00000271331:T36N	ENSP00000271331:T36N	T	+	2	0	PROK1	110798140	0.950000	0.32346	0.999000	0.59377	0.967000	0.64934	3.588000	0.53964	2.674000	0.91012	0.655000	0.94253	ACC		PASS	0.627	PROK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031969.1	NM_032414		23	45	23	45	---	---	---	---
RSBN1	54665	broad.mit.edu	37	1	114308980	114308980	+	Silent	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:114308980G>A	ENST00000261441.5	-	7	2094	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	677						nucleus (GO:0005634)		p.F677F(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTAGGGATGAAGTAGATAT	0.443																																						uc001edq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2029-2031)TTC>TTT		round spermatid basic protein 1							100.0	93.0	95.0					1																	114308980		2203	4300	6503	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114308980G>A	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.2031C>T	1.37:g.114308980G>A						RSBN1_uc001edr.2_RNA	p.F677F	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	2067	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	677					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.2031C>T	CCDS862.1																																																																																				PASS	0.443	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		56	86	56	86	---	---	---	---
PIP5K1A	8394	broad.mit.edu	37	1	151214676	151214676	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:151214676A>G	ENST00000368888.4	+	13	1863	c.1441A>G	c.(1441-1443)Att>Gtt	p.I481V	PIP5K1A_ENST00000441902.2_Missense_Mutation_p.I441V|PIP5K1A_ENST00000368890.4_Intron|PIP5K1A_ENST00000414290.2_Intron|PIP5K1A_ENST00000409426.1_Missense_Mutation_p.I469V	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	481					actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)	p.I481V(1)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAACTCCTGCATTACTTACCA	0.542																																					Pancreas(80;36 1443 2325 16095 21302)	uc001exj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1441-1443)ATT>GTT		phosphatidylinositol-4-phosphate 5-kinase, type							127.0	128.0	128.0					1																	151214676		2203	4300	6503	SO:0001583	missense	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151214676A>G	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.1441A>G	1.37:g.151214676A>G	ENSP00000357883:p.Ile481Val					PIP5K1A_uc001exi.2_Missense_Mutation_p.I468V|PIP5K1A_uc010pcu.1_Missense_Mutation_p.I441V|PIP5K1A_uc001exk.2_Intron|PIP5K1A_uc010pcv.1_Intron	p.I481V	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		13	1893	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		481					A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	ENST00000368888.4	37	c.1441A>G	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	A	1.101	-0.661114	0.03454	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368888	T;T;T;T	0.28454	1.82;1.82;1.61;1.82	4.07	-5.49	0.02584	.	1.211650	0.05661	N	0.586802	T	0.06462	0.0166	N	0.21448	0.665	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.44436	-0.9328	10	0.27785	T	0.31	.	6.5355	0.22350	0.2754:0.0:0.5678:0.1568	.	441;481;468	Q99755-4;Q99755;Q99755-3	.;PI51A_HUMAN;.	V	468;469;441;481	ENSP00000271663:I468V;ENSP00000386432:I469V;ENSP00000415648:I441V;ENSP00000357883:I481V	ENSP00000271663:I468V	I	+	1	0	PIP5K1A	149481300	0.004000	0.15560	0.972000	0.41901	0.972000	0.66771	-0.988000	0.03739	-0.747000	0.04759	-0.371000	0.07208	ATT		PASS	0.542	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557		47	187	47	187	---	---	---	---
PSMD4	5710	broad.mit.edu	37	1	151237918	151237918	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:151237918A>G	ENST00000368884.3	+	6	567	c.487A>G	c.(487-489)Aaa>Gaa	p.K163E	PSMD4_ENST00000368881.4_Missense_Mutation_p.K163E	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	163	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.K163E(1)		breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTTGAATGGCAAAGATGGAAC	0.517																																						uc001exl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(487-489)AAA>GAA		proteasome 26S non-ATPase subunit 4							83.0	78.0	79.0					1																	151237918		2203	4297	6500	SO:0001583	missense	5710				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding	g.chr1:151237918A>G	U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"""Proteasome (prosome, macropain) subunits"""	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.487A>G	1.37:g.151237918A>G	ENSP00000357879:p.Lys163Glu					PSMD4_uc001exn.2_Missense_Mutation_p.K163E	p.K163E	NM_002810	NP_002801	P55036	PSMD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		6	549	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		163			VWFA.		D3DV16|Q5VWC5|Q9NS92	Missense_Mutation	SNP	ENST00000368884.3	37	c.487A>G	CCDS991.1	.	.	.	.	.	.	.	.	.	.	A	32	5.114430	0.94339	.	.	ENSG00000159352	ENST00000368884;ENST00000368881;ENST00000437736	.	.	.	5.96	5.96	0.96718	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.70211	0.3198	M	0.78049	2.395	0.80722	D	1	P;D	0.56521	0.863;0.976	P;P	0.57283	0.629;0.817	T	0.72743	-0.4201	9	0.46703	T	0.11	-12.8224	16.0957	0.81123	1.0:0.0:0.0:0.0	.	163;163	Q5VWC4;P55036	.;PSMD4_HUMAN	E	163;163;148	.	ENSP00000357876:K163E	K	+	1	0	PSMD4	149504542	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	8.892000	0.92491	2.285000	0.76669	0.528000	0.53228	AAA		PASS	0.517	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034409.3	NM_002810		22	72	22	72	---	---	---	---
PSMB4	5692	broad.mit.edu	37	1	151372480	151372480	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:151372480C>T	ENST00000290541.6	+	2	218	c.164C>T	c.(163-165)tCa>tTa	p.S55L		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	55					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)	p.S55L(1)		endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACCGGGACCTCAGTCCTCGGC	0.597																																						uc001eyc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(163-165)TCA>TTA		proteasome beta 4 subunit							84.0	86.0	85.0					1																	151372480		2203	4300	6503	SO:0001583	missense	5692				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr1:151372480C>T	D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"""Proteasome (prosome, macropain) subunits"""	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.164C>T	1.37:g.151372480C>T	ENSP00000290541:p.Ser55Leu					PSMB4_uc010pda.1_Missense_Mutation_p.S55L|PSMB4_uc001eyb.1_Missense_Mutation_p.S55L	p.S55L	NM_002796	NP_002787	P28070	PSB4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	187	+	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		55					B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Missense_Mutation	SNP	ENST00000290541.6	37	c.164C>T	CCDS996.1	.	.	.	.	.	.	.	.	.	.	C	36	5.918217	0.97105	.	.	ENSG00000159377	ENST00000290541	T	0.35236	1.32	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71886	-0.4457	10	0.87932	D	0	-11.5448	17.6208	0.88080	0.0:1.0:0.0:0.0	.	55;55	B4DFL3;P28070	.;PSB4_HUMAN	L	55	ENSP00000290541:S55L	ENSP00000290541:S55L	S	+	2	0	PSMB4	149639104	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.422000	0.80217	2.502000	0.84385	0.561000	0.74099	TCA		PASS	0.597	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796		17	94	17	94	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152192197	152192197	+	Missense_Mutation	SNP	G	G	C	rs377171037		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:152192197G>C	ENST00000368801.2	-	3	1983	c.1908C>G	c.(1906-1908)caC>caG	p.H636Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	636					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.H636Q(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGCTGACCGTGGCTGGAAG	0.572																																						uc001ezt.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1906-1908)CAC>CAG		hornerin							234.0	229.0	231.0					1																	152192197		2203	4298	6501	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192197G>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1908C>G	1.37:g.152192197G>C	ENSP00000357791:p.His636Gln						p.H636Q	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1984	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		636			6.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1908C>G	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	2.888	-0.230314	0.05983	.	.	ENSG00000197915	ENST00000368801	T	0.03772	3.81	3.81	-7.61	0.01299	.	.	.	.	.	T	0.00580	0.0019	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.10450	0.005	T	0.48779	-0.9005	9	0.12766	T	0.61	.	4.5897	0.12301	0.3626:0.0:0.3277:0.3097	.	636	Q86YZ3	HORN_HUMAN	Q	636	ENSP00000357791:H636Q	ENSP00000357791:H636Q	H	-	3	2	HRNR	150458821	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.125000	0.10579	-1.496000	0.01828	-3.111000	0.00062	CAC		PASS	0.572	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		57	298	57	298	---	---	---	---
LCE2D	353141	broad.mit.edu	37	1	152636715	152636715	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:152636715C>G	ENST00000368784.1	+	2	189	c.134C>G	c.(133-135)tCt>tGt	p.S45C		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	45	Cys-rich.				keratinization (GO:0031424)			p.S45C(1)		large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGCAGTCTCTTCCTGCTGT	0.637																																						uc001fag.2																			1	Substitution - Missense(1)		lung(1)		0						c.(133-135)TCT>TGT		late cornified envelope 2D							121.0	130.0	127.0					1																	152636715		2203	4300	6503	SO:0001583	missense	353141				keratinization			g.chr1:152636715C>G	BI670513	CCDS1018.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000187223	ENSG00000187223		"""Late cornified envelopes"""	16518	protein-coding gene	gene with protein product		612612	"""small proline rich-like (epidermal differentiation complex) 1A"""	SPRL1A		11698679	Standard	NM_178430		Approved	LEP12	uc001fag.4	Q5TA82	OTTHUMG00000014400	ENST00000368784.1:c.134C>G	1.37:g.152636715C>G	ENSP00000357773:p.Ser45Cys						p.S45C	NM_178430	NP_848517	Q5TA82	LCE2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	189	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		45			Cys-rich.		A1L4M8	Missense_Mutation	SNP	ENST00000368784.1	37	c.134C>G	CCDS1018.1	.	.	.	.	.	.	.	.	.	.	C	0.492	-0.874824	0.02550	.	.	ENSG00000187223	ENST00000368784	T	0.05855	3.38	2.99	2.99	0.34606	.	.	.	.	.	T	0.05090	0.0136	L	0.39633	1.23	0.09310	N	1	D	0.71674	0.998	P	0.54238	0.746	T	0.29549	-1.0008	9	0.87932	D	0	.	9.2572	0.37590	0.0:1.0:0.0:0.0	.	45	Q5TA82	LCE2D_HUMAN	C	45	ENSP00000357773:S45C	ENSP00000357773:S45C	S	+	2	0	LCE2D	150903339	0.048000	0.20356	0.048000	0.18961	0.149000	0.21700	2.031000	0.41117	1.481000	0.48307	0.305000	0.20034	TCT		PASS	0.637	LCE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040058.1	NM_178430		30	142	30	142	---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	154029319	154029319	+	Missense_Mutation	SNP	T	T	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:154029319T>G	ENST00000368559.3	-	23	3283	c.3212A>C	c.(3211-3213)aAa>aCa	p.K1071T	NUP210L_ENST00000368553.1_Missense_Mutation_p.K4T|NUP210L_ENST00000271854.3_Missense_Mutation_p.K1071T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1071					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.K1071T(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGATGTGTATTTTCTTCCCAT	0.368																																						uc001fdw.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(3211-3213)AAA>ACA		nucleoporin 210kDa-like isoform 1							161.0	146.0	151.0					1																	154029319		1875	4117	5992	SO:0001583	missense	91181					integral to membrane		g.chr1:154029319T>G	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3212A>C	1.37:g.154029319T>G	ENSP00000357547:p.Lys1071Thr					NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Missense_Mutation_p.K1071T	p.K1071T	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		23	3284	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1071					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.3212A>C	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.511785	0.44660	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.23950	3.5;1.88;3.24	4.95	3.82	0.43975	Invasin/intimin cell-adhesion (1);	0.088955	0.48767	D	0.000177	T	0.26011	0.0634	L	0.55834	1.745	0.39231	D	0.963672	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.05937	-1.0855	10	0.20046	T	0.44	-18.8309	9.0415	0.36321	0.0:0.0845:0.0:0.9155	.	1071;1071	E7EP56;Q5VU65	.;P210L_HUMAN	T	1071;4;1071	ENSP00000357547:K1071T;ENSP00000357541:K4T;ENSP00000271854:K1071T	ENSP00000271854:K1071T	K	-	2	0	NUP210L	152295943	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	3.242000	0.51384	0.911000	0.36747	-0.263000	0.10527	AAA		PASS	0.368	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		34	64	34	64	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154245903	154245903	+	Missense_Mutation	SNP	C	C	A	rs11556344		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:154245903C>A	ENST00000328703.7	+	2	358	c.145C>A	c.(145-147)Cca>Aca	p.P49T	HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_Missense_Mutation_p.P49T|HAX1_ENST00000457918.2_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	49			P -> S (in dbSNP:rs11556344).		cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)	p.P49T(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCGTGGGAACCCAAGGTTCCA	0.532									Kostmann syndrome																													uc001fes.2																			1	Substitution - Missense(1)		lung(1)		0						c.(145-147)CCA>ACA		HCLS1 associated protein X-1 isoform a		C	,THR/PRO	0,4406		0,0,2203	68.0	65.0	66.0		,145	-5.3	0.0	1	dbSNP_120	66	2,8598	2.2+/-6.3	0,2,4298	no	intron,missense	HAX1	NM_001018837.1,NM_006118.3	,38	0,2,6501	AA,AC,CC		0.0233,0.0,0.0154	,benign	,49/280	154245903	2,13004	2203	4300	6503	SO:0001583	missense	10456	Kostmann_syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154245903C>A	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.145C>A	1.37:g.154245903C>A	ENSP00000329002:p.Pro49Thr					HAX1_uc001fet.2_Intron|HAX1_uc010peo.1_Missense_Mutation_p.P49T|HAX1_uc009wou.2_5'UTR|HAX1_uc009wov.2_Missense_Mutation_p.P23T	p.P49T	NM_006118	NP_006109	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	306	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		49					A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Missense_Mutation	SNP	ENST00000328703.7	37	c.145C>A	CCDS1064.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143730	0.37825	0.0	2.33E-4	ENSG00000143575	ENST00000328703;ENST00000483970;ENST00000435087	T;T;T	0.41400	1.0;1.0;1.0	5.58	-5.3	0.02738	.	1.367040	0.04495	N	0.380303	T	0.09949	0.0244	L	0.36672	1.1	0.20403	N	0.999904	B;B	0.31548	0.082;0.328	B;B	0.28011	0.085;0.053	T	0.09037	-1.0693	10	0.17832	T	0.49	5.0194	6.4027	0.21648	0.0:0.289:0.2258:0.4851	.	49;49	O00165-2;O00165	.;HAX1_HUMAN	T	49	ENSP00000329002:P49T;ENSP00000435088:P49T;ENSP00000394920:P49T	ENSP00000329002:P49T	P	+	1	0	HAX1	152512527	0.374000	0.25081	0.002000	0.10522	0.133000	0.20885	0.221000	0.17680	-0.733000	0.04850	0.655000	0.94253	CCA		PASS	0.532	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		4	59	4	59	---	---	---	---
CHRNB2	1141	broad.mit.edu	37	1	154544245	154544245	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:154544245G>A	ENST00000368476.3	+	5	1210	c.946G>A	c.(946-948)Gtg>Atg	p.V316M		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	316					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)	p.V316M(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	CGTCACCAGCGTGTGCGTGCT	0.622																																						uc001ffg.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(946-948)GTG>ATG		neuronal nicotinic acetylcholine receptor beta 2	Nicotine(DB00184)						122.0	90.0	101.0					1																	154544245		2203	4300	6503	SO:0001583	missense	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154544245G>A	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.946G>A	1.37:g.154544245G>A	ENSP00000357461:p.Val316Met						p.V316M	NM_000748	NP_000739	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	1210	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		316			Helical; (Potential).		Q9UEH9	Missense_Mutation	SNP	ENST00000368476.3	37	c.946G>A	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372552	0.82573	.	.	ENSG00000160716	ENST00000368476	D	0.87887	-2.31	3.97	3.97	0.46021	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95645	0.8584	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97447	1.0025	10	0.87932	D	0	.	15.8078	0.78527	0.0:0.0:1.0:0.0	.	316	P17787	ACHB2_HUMAN	M	316	ENSP00000357461:V316M	ENSP00000357461:V316M	V	+	1	0	CHRNB2	152810869	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.592000	0.98245	2.024000	0.59613	0.313000	0.20887	GTG		PASS	0.622	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		10	54	10	54	---	---	---	---
CD1A	909	broad.mit.edu	37	1	158226630	158226630	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:158226630A>G	ENST00000289429.5	+	4	1192	c.659A>G	c.(658-660)cAg>cGg	p.Q220R		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	220	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)		p.Q220R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GGCCATCTGCAGCTTGTGTGC	0.567																																						uc001frt.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|skin(1)	3						c.(658-660)CAG>CGG		CD1A antigen precursor	Antithymocyte globulin(DB00098)						79.0	76.0	77.0					1																	158226630		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226630A>G	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.659A>G	1.37:g.158226630A>G	ENSP00000289429:p.Gln220Arg						p.Q220R	NM_001763	NP_001754	P06126	CD1A_HUMAN			4	1192	+	all_hematologic(112;0.0378)		220			Extracellular (Potential).|Ig-like.		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.659A>G	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	A	0.521	-0.862265	0.02610	.	.	ENSG00000158477	ENST00000289429	T	0.13196	2.61	3.84	-0.29	0.12847	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	2.901380	0.01505	N	0.017683	T	0.02267	0.0070	N	0.11284	0.12	0.09310	N	1	B	0.16802	0.019	B	0.22152	0.038	T	0.40459	-0.9562	10	0.44086	T	0.13	-0.9975	4.8686	0.13620	0.1847:0.0:0.3645:0.4508	.	220	P06126	CD1A_HUMAN	R	220	ENSP00000289429:Q220R	ENSP00000289429:Q220R	Q	+	2	0	CD1A	156493254	0.000000	0.05858	0.011000	0.14972	0.145000	0.21501	-2.217000	0.01220	-0.136000	0.11475	-0.892000	0.02923	CAG		PASS	0.567	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		18	79	18	79	---	---	---	---
OR6Y1	391112	broad.mit.edu	37	1	158517747	158517747	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:158517747A>T	ENST00000302617.3	-	1	148	c.149T>A	c.(148-150)aTc>aAc	p.I50N		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I50N(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGCTAAGATGATAAGAAGATT	0.478																																						uc010pil.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(148-150)ATC>AAC		olfactory receptor, family 6, subfamily Y,							53.0	51.0	52.0					1																	158517747		2202	4300	6502	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517747A>T	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.149T>A	1.37:g.158517747A>T	ENSP00000304807:p.Ile50Asn						p.I50N	NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN			1	149	-	all_hematologic(112;0.0378)		50			Helical; Name=1; (Potential).		Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.149T>A	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.050209	0.55218	.	.	ENSG00000197532	ENST00000302617	T	0.00534	6.74	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000646	T	0.01523	0.0049	H	0.96239	3.79	0.21256	N	0.999745	D	0.61697	0.99	P	0.57960	0.83	T	0.22103	-1.0226	10	0.87932	D	0	.	13.9452	0.64080	1.0:0.0:0.0:0.0	.	50	Q8NGX8	OR6Y1_HUMAN	N	50	ENSP00000304807:I50N	ENSP00000304807:I50N	I	-	2	0	OR6Y1	156784371	0.831000	0.29352	0.984000	0.44739	0.725000	0.41563	3.024000	0.49674	2.176000	0.68965	0.460000	0.39030	ATC		PASS	0.478	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		13	54	13	54	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158655087	158655087	+	Silent	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:158655087C>T	ENST00000368147.4	-	2	255	c.75G>A	c.(73-75)caG>caA	p.Q25Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	25					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.Q25Q(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)					GACGCCTCTCCTGGATCTCTT	0.443																																						uc001fst.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(73-75)CAG>CAA		spectrin, alpha, erythrocytic 1							145.0	144.0	145.0					1																	158655087		1900	4122	6022	SO:0001819	synonymous_variant	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.chr1:158655087C>T	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.75G>A	1.37:g.158655087C>T							p.Q25Q	NM_003126	NP_003117	P02549	SPTA1_HUMAN			2	274	-	all_hematologic(112;0.0378)		25			Spectrin 1.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.75G>A	CCDS41423.1																																																																																				PASS	0.443	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		37	154	37	154	---	---	---	---
FCRL6	343413	broad.mit.edu	37	1	159779427	159779427	+	Silent	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:159779427C>T	ENST00000368106.3	+	5	841	c.840C>T	c.(838-840)aaC>aaT	p.N280N	FCRL6_ENST00000321935.6_Silent_p.N287N|FCRL6_ENST00000339348.5_Silent_p.N280N|FCRL6_ENST00000392235.3_Silent_p.N185N	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	280	Ig-like C2-type 3.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.N280N(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AGGCTGAGAACAGTGTCTCCA	0.562																																						uc001fud.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(838-840)AAC>AAT		Fc receptor-like 6 precursor							61.0	60.0	61.0					1																	159779427		2203	4300	6503	SO:0001819	synonymous_variant	343413					integral to membrane		g.chr1:159779427C>T	AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.840C>T	1.37:g.159779427C>T						FCRL6_uc001fuc.2_Silent_p.N287N|FCRL6_uc009wsz.1_Silent_p.N185N|FCRL6_uc009wta.2_Silent_p.N280N	p.N280N	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN			5	882	+	all_hematologic(112;0.0597)		280			Ig-like C2-type 3.|Extracellular (Potential).		A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Silent	SNP	ENST00000368106.3	37	c.840C>T	CCDS30912.1																																																																																				PASS	0.562	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310		21	42	21	42	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159900553	159900553	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:159900553T>C	ENST00000368094.1	-	14	1939	c.1742A>G	c.(1741-1743)cAg>cGg	p.Q581R	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.Q565R	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	581	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.Q565R(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CACGCTGAACTGGTACTGGGT	0.597																																						uc001fur.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)	5						c.(1741-1743)CAG>CGG		immunoglobulin superfamily, member 9 isoform a							69.0	62.0	65.0					1																	159900553		2203	4300	6503	SO:0001583	missense	57549					cell junction|integral to membrane|synapse		g.chr1:159900553T>C	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1742A>G	1.37:g.159900553T>C	ENSP00000357073:p.Gln581Arg					IGSF9_uc001fuq.2_Missense_Mutation_p.Q565R|IGSF9_uc001fup.2_5'UTR	p.Q581R	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		14	1940	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	581			Fibronectin type-III 1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000368094.1	37	c.1742A>G	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.065241	0.76187	.	.	ENSG00000085552	ENST00000361509;ENST00000368094	T;T	0.56941	0.43;0.43	4.65	4.65	0.58169	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40818	N	0.001003	T	0.64170	0.2574	M	0.78285	2.405	0.44261	D	0.997111	D	0.89917	1.0	D	0.91635	0.999	T	0.67780	-0.5582	9	.	.	.	-17.0615	12.0682	0.53601	0.0:0.0:0.0:1.0	.	581	Q9P2J2	TUTLA_HUMAN	R	565;581	ENSP00000355049:Q565R;ENSP00000357073:Q581R	.	Q	-	2	0	IGSF9	158167177	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.679000	0.68160	1.944000	0.56390	0.379000	0.24179	CAG		PASS	0.597	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		15	63	15	63	---	---	---	---
LY9	4063	broad.mit.edu	37	1	160784267	160784267	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:160784267A>G	ENST00000263285.6	+	4	818	c.788A>G	c.(787-789)gAg>gGg	p.E263G	LY9_ENST00000368041.2_Missense_Mutation_p.E223G|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.E263G|LY9_ENST00000392203.4_Missense_Mutation_p.E263G|LY9_ENST00000368037.5_Missense_Mutation_p.E263G			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	263	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.E263G(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTCCTGGGAGAGCCAGTCACC	0.557																																						uc001fwu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(787-789)GAG>GGG		lymphocyte antigen 9 isoform a							71.0	70.0	70.0					1																	160784267		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160784267A>G	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.788A>G	1.37:g.160784267A>G	ENSP00000263285:p.Glu263Gly					LY9_uc010pjs.1_Missense_Mutation_p.E263G|LY9_uc001fwv.2_Missense_Mutation_p.E263G|LY9_uc001fww.2_Missense_Mutation_p.E263G|LY9_uc001fwx.2_Missense_Mutation_p.E263G|LY9_uc001fwy.1_Missense_Mutation_p.E165G|LY9_uc001fwz.2_5'UTR	p.E263G	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		4	838	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		263			Extracellular (Potential).|Ig-like V-type 2.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.788A>G	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	A	11.57	1.677631	0.29783	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000392203;ENST00000368037;ENST00000368036	T;T	0.01647	4.71;4.71	4.04	1.73	0.24493	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	23.743900	0.00659	N	0.000591	T	0.02455	0.0075	L	0.48174	1.505	0.19775	N	0.999955	D;D;P;D;D;D	0.89917	0.999;0.999;0.799;0.999;1.0;0.999	D;D;B;D;D;D	0.85130	0.994;0.994;0.32;0.994;0.997;0.994	T	0.43702	-0.9375	10	0.48119	T	0.1	-19.0623	5.0105	0.14310	0.7522:0.0:0.2478:0.0	.	263;223;223;263;263;263	B4E0J5;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	G	263;263;263;263;223;223;165	ENSP00000342921:E263G;ENSP00000263285:E263G	ENSP00000263285:E263G	E	+	2	0	LY9	159050891	0.662000	0.27439	0.034000	0.17996	0.099000	0.18886	0.915000	0.28638	0.651000	0.30788	0.460000	0.39030	GAG		PASS	0.557	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		16	73	16	73	---	---	---	---
FCGR3A	2214	broad.mit.edu	37	1	161518451	161518451	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:161518451C>T	ENST00000436743.1	-	4	233	c.79G>A	c.(79-81)Gtg>Atg	p.V27M	RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000443193.1_Missense_Mutation_p.V62M|FCGR3A_ENST00000367969.3_Missense_Mutation_p.V63M|FCGR3A_ENST00000540048.1_Missense_Mutation_p.V27M|FCGR3A_ENST00000476031.1_5'UTR	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	27	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V63M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAACACCACAGCCTTTGGG	0.562																																						uc001gat.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(79-81)GTG>ATG		Fc fragment of IgG, low affinity IIIa, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						94.0	91.0	92.0					1																	161518451		2203	4300	6503	SO:0001583	missense	2214				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161518451C>T	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.79G>A	1.37:g.161518451C>T	ENSP00000416607:p.Val27Met					FCGR3A_uc001gar.2_Missense_Mutation_p.V63M|FCGR3A_uc001gas.2_Missense_Mutation_p.V62M|FCGR3A_uc009wuh.2_Missense_Mutation_p.V26M|FCGR3A_uc009wui.2_Missense_Mutation_p.V27M	p.V27M	NM_001127595	NP_001121067	P08637	FCG3A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	216	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		27			Ig-like C2-type 1.|Extracellular (Potential).		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	c.79G>A	CCDS44266.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080586	0.36662	.	.	ENSG00000203747	ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048;ENST00000442336	T;T;T;T;T;T	0.08984	3.03;3.03;3.03;3.03;3.03;3.03	4.43	0.394	0.16299	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.126840	0.06794	N	0.787581	T	0.07458	0.0188	M	0.74258	2.255	0.25692	N	0.985673	P;P;D	0.64830	0.94;0.94;0.994	B;P;P	0.52031	0.338;0.463;0.688	T	0.19128	-1.0315	10	0.66056	D	0.02	.	3.9944	0.09551	0.0:0.5283:0.1777:0.294	.	27;62;27	P08637;E9PG94;Q9UPY7	FCG3A_HUMAN;.;.	M	63;62;27;27;27;26	ENSP00000356946:V63M;ENSP00000392047:V62M;ENSP00000416607:V27M;ENSP00000356944:V27M;ENSP00000444971:V27M;ENSP00000396567:V26M	ENSP00000356944:V27M	V	-	1	0	FCGR3A	159785075	0.023000	0.18921	0.964000	0.40570	0.834000	0.47266	-0.082000	0.11304	0.216000	0.20781	0.591000	0.81541	GTG		PASS	0.562	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		5	80	5	80	---	---	---	---
FCGR3A	2214	broad.mit.edu	37	1	161599808	161599808	+	Intron	SNP	C	C	T	rs201534974		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:161599808C>T	ENST00000540048.1	-	2	94				FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.V63M|FCGR3B_ENST00000294800.3_Missense_Mutation_p.V27M|FCGR3B_ENST00000367964.2_Missense_Mutation_p.V27M|FCGR2B_ENST00000367962.4_Intron			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V27M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAACACCACAGCCTTTGGG	0.557																																						uc009wul.2																			1	Substitution - Missense(1)		lung(1)		0						c.(79-81)GTG>ATG		low affinity immunoglobulin gamma Fc region	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						38.0	43.0	41.0					1																	161599808		2078	4232	6310	SO:0001627	intron_variant	2215				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	g.chr1:161599808C>T	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+349G>A	1.37:g.161599808C>T							p.V27M	NM_000570	NP_000561	O75015	FCG3B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	353	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		27					A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37	c.79G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.862641|2.862641	0.51482|0.51482	.|.	.|.	ENSG00000162747|ENSG00000162747	ENST00000421702|ENST00000367964;ENST00000294800;ENST00000531221;ENST00000534776	.|T;T;T;T	.|0.08984	.|3.03;3.03;3.03;3.03	2.79|2.79	-0.454|-0.454	0.12197|0.12197	.|Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.962804	.|0.08547	.|N	.|0.929523	T|T	0.03608|0.03608	0.0103|0.0103	M|M	0.74389|0.74389	2.26|2.26	0.26520|0.26520	N|N	0.974442|0.974442	.|P	.|0.50943	.|0.94	.|B	.|0.40702	.|0.338	T|T	0.32771|0.32771	-0.9894|-0.9894	5|10	.|0.56958	.|D	.|0.05	.|.	2.8903|2.8903	0.05674|0.05674	0.0:0.4518:0.2442:0.3041|0.0:0.4518:0.2442:0.3041	.|.	.|27	.|O75015	.|FCG3B_HUMAN	Y|M	47|27;27;63;10	.|ENSP00000356941:V27M;ENSP00000294800:V27M;ENSP00000433642:V63M;ENSP00000437084:V10M	.|ENSP00000294800:V27M	C|V	-|-	2|1	0|0	FCGR3B|FCGR3B	159866432|159866432	0.018000|0.018000	0.18449|0.18449	0.929000|0.929000	0.37066|0.37066	0.503000|0.503000	0.33858|0.33858	-0.067000|-0.067000	0.11579|0.11579	0.050000|0.050000	0.15949|0.15949	0.388000|0.388000	0.25769|0.25769	TGT|GTG		PASS	0.557	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		33	35	33	35	---	---	---	---
TBX19	9095	broad.mit.edu	37	1	168260434	168260434	+	Silent	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:168260434G>T	ENST00000367821.3	+	2	291	c.240G>T	c.(238-240)ggG>ggT	p.G80G		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	80					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G80G(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GTGTCACAGGGTTGGACCCCA	0.542																																						uc001gfl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(238-240)GGG>GGT		T-box 19							151.0	137.0	142.0					1																	168260434		2203	4300	6503	SO:0001819	synonymous_variant	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168260434G>T	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.240G>T	1.37:g.168260434G>T						TBX19_uc001gfj.3_Silent_p.G11G	p.G80G	NM_005149	NP_005140	O60806	TBX19_HUMAN			2	291	+	all_hematologic(923;0.215)		80			T-box.		Q52M53	Silent	SNP	ENST00000367821.3	37	c.240G>T	CCDS1272.1	.	.	.	.	.	.	.	.	.	.	G	8.374	0.835931	0.16820	.	.	ENSG00000143178	ENST00000431969	.	.	.	4.99	-0.142	0.13448	.	.	.	.	.	T	0.10680	0.0261	.	.	.	.	.	.	.	.	.	.	.	.	T	0.27400	-1.0075	3	.	.	.	.	1.9977	0.03460	0.2691:0.3023:0.3199:0.1087	.	.	.	.	F	13	.	.	V	+	1	0	TBX19	166527058	0.026000	0.19158	0.969000	0.41365	0.964000	0.63967	-0.512000	0.06313	-0.176000	0.10707	-0.137000	0.14449	GTT		PASS	0.542	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		52	166	52	166	---	---	---	---
SELE	6401	broad.mit.edu	37	1	169696587	169696587	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:169696587G>T	ENST00000333360.7	-	10	1687	c.1548C>A	c.(1546-1548)tgC>tgA	p.C516*	SELE_ENST00000367776.1_Nonsense_Mutation_p.C453*|SELE_ENST00000367779.4_Nonsense_Mutation_p.C390*|SELE_ENST00000367782.4_Nonsense_Mutation_p.C453*|SELE_ENST00000367777.1_Nonsense_Mutation_p.C453*|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Nonsense_Mutation_p.C453*|SELE_ENST00000367780.4_Nonsense_Mutation_p.C391*|SELE_ENST00000367775.1_Nonsense_Mutation_p.C391*|SELE_ENST00000367774.1_Nonsense_Mutation_p.C390*	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	516	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)	p.C516*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	AGGCGAACTTGCACACAGTGC	0.547																																						uc001ggm.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1546-1548)TGC>TGA		selectin E precursor							102.0	91.0	95.0					1																	169696587		2203	4300	6503	SO:0001587	stop_gained	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169696587G>T	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1548C>A	1.37:g.169696587G>T	ENSP00000331736:p.Cys516*					C1orf112_uc001ggj.2_Intron	p.C516*	NM_000450	NP_000441	P16581	LYAM2_HUMAN			10	1705	-	all_hematologic(923;0.208)		516			Extracellular (Potential).|Sushi 6.		A2RRD6|P16111	Nonsense_Mutation	SNP	ENST00000333360.7	37	c.1548C>A	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270414	0.80469	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	.	.	.	5.83	-0.226	0.13106	.	0.307323	0.24041	N	0.042084	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.1413	9.3454	0.38104	0.6605:0.0:0.3395:0.0	.	.	.	.	X	453;453;391;390;516;453;391;453;390	.	ENSP00000331736:C516X	C	-	3	2	SELE	167963211	0.001000	0.12720	0.004000	0.12327	0.607000	0.37147	-0.174000	0.09839	-0.247000	0.09597	0.650000	0.86243	TGC		PASS	0.547	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		35	51	35	51	---	---	---	---
KIFAP3	22920	broad.mit.edu	37	1	169930205	169930205	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:169930205C>G	ENST00000361580.2	-	18	2382	c.2155G>C	c.(2155-2157)Gac>Cac	p.D719H	KIFAP3_ENST00000367765.1_Missense_Mutation_p.D679H|KIFAP3_ENST00000540905.1_Missense_Mutation_p.D421H|KIFAP3_ENST00000367767.1_Missense_Mutation_p.D675H|RN7SL269P_ENST00000467795.2_RNA|KIFAP3_ENST00000538366.1_Missense_Mutation_p.D641H	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	719					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)	p.D719H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAGAAAAGGTCAGGTCTTTCG	0.413																																						uc001ggv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2155-2157)GAC>CAC		kinesin-associated protein 3							125.0	115.0	118.0					1																	169930205		2203	4300	6503	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169930205C>G	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.2155G>C	1.37:g.169930205C>G	ENSP00000354560:p.Asp719His					KIFAP3_uc010plx.1_Missense_Mutation_p.D421H	p.D719H	NM_014970	NP_055785	Q92845	KIFA3_HUMAN			18	2426	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		719					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.2155G>C	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604629	0.66445	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.54	4.61	0.57282	.	0.045260	0.85682	D	0.000000	T	0.61565	0.2357	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.62905	-0.6755	9	.	.	.	-18.5691	15.1958	0.73088	0.1422:0.8578:0.0:0.0	.	719	Q92845	KIFA3_HUMAN	H	719;679;675;421;641	ENSP00000354560:D719H;ENSP00000356739:D679H;ENSP00000356741:D675H;ENSP00000442712:D421H;ENSP00000444622:D641H	.	D	-	1	0	KIFAP3	168196829	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.088000	0.57678	1.293000	0.44690	0.460000	0.39030	GAC		PASS	0.413	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		7	57	7	57	---	---	---	---
FMO2	2327	broad.mit.edu	37	1	171173031	171173031	+	Missense_Mutation	SNP	T	T	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:171173031T>A	ENST00000209929.7	+	6	813	c.655T>A	c.(655-657)Tgg>Agg	p.W219R	RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.W219R|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000529935.1_3'UTR			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	219					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.W219R(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCATGGCACCTGGGTCATGAG	0.478																																						uc001ghk.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(655-657)TGG>AGG		flavin containing monooxygenase 2							112.0	88.0	96.0					1																	171173031		2203	4300	6503	SO:0001583	missense	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171173031T>A	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.655T>A	1.37:g.171173031T>A	ENSP00000209929:p.Trp219Arg					FMO2_uc010pmd.1_5'UTR	p.W219R	NM_001460	NP_001451	Q99518	FMO2_HUMAN			6	772	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		219					Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	c.655T>A	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.592677	0.66219	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.65916	-0.18;-0.18	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	D	0.86326	0.5906	H	0.98833	4.345	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.91748	0.5410	10	0.87932	D	0	-10.9086	15.7887	0.78332	0.0:0.0:0.0:1.0	.	219	Q99518	FMO2_HUMAN	R	219	ENSP00000209929:W219R;ENSP00000405905:W219R	ENSP00000209929:W219R	W	+	1	0	FMO2	169439655	1.000000	0.71417	1.000000	0.80357	0.182000	0.23217	7.378000	0.79679	2.367000	0.80283	0.529000	0.55759	TGG		PASS	0.478	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		13	60	13	60	---	---	---	---
SUCO	51430	broad.mit.edu	37	1	172555011	172555011	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:172555011A>G	ENST00000263688.3	+	17	1800	c.1581A>G	c.(1579-1581)atA>atG	p.I527M	SUCO_ENST00000608151.1_Missense_Mutation_p.I679M|SUCO_ENST00000610051.1_Missense_Mutation_p.I490M|SUCO_ENST00000367723.4_Missense_Mutation_p.I678M	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	527					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)		p.I527M(1)|p.I679M(1)									ATAAAAGTATATCTGAGAATG	0.333																																						uc001giq.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1579-1581)ATA>ATG		chromosome 1 open reading frame 9 protein							139.0	155.0	149.0					1																	172555011		2203	4300	6503	SO:0001583	missense	51430				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane		g.chr1:172555011A>G	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1581A>G	1.37:g.172555011A>G	ENSP00000263688:p.Ile527Met					C1orf9_uc010pmm.1_Missense_Mutation_p.I527M|C1orf9_uc009wwd.2_Missense_Mutation_p.I483M|C1orf9_uc010pmn.1_Missense_Mutation_p.I490M|C1orf9_uc010pmo.1_Intron	p.I527M	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)	17	1897	+		Breast(1374;0.212)	527					B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.1581A>G	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.291061	0.40494	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.2	4.05	0.47172	.	0.539901	0.21218	N	0.078193	T	0.15782	0.0380	L	0.54323	1.7	0.31332	N	0.684736	B;P;B;P	0.40266	0.063;0.71;0.196;0.589	B;B;B;B	0.33750	0.034;0.169;0.03;0.071	T	0.08229	-1.0732	9	0.40728	T	0.16	-9.5526	5.749	0.18136	0.7691:0.0:0.0803:0.1506	.	490;527;679;527	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	M	679;527	.	ENSP00000263688:I527M	I	+	3	3	C1orf9	170821634	0.973000	0.33851	1.000000	0.80357	0.998000	0.95712	0.505000	0.22642	1.047000	0.40274	0.533000	0.62120	ATA		PASS	0.333	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		93	137	93	137	---	---	---	---
SUCO	51430	broad.mit.edu	37	1	172558043	172558043	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:172558043A>T	ENST00000263688.3	+	18	2021	c.1802A>T	c.(1801-1803)cAg>cTg	p.Q601L	SUCO_ENST00000608151.1_Missense_Mutation_p.Q753L|SUCO_ENST00000610051.1_Missense_Mutation_p.Q564L|SUCO_ENST00000367723.4_Missense_Mutation_p.Q752L	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	601					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)		p.Q601L(1)|p.Q753L(1)									AGCGGTGAACAGGAAGATGAA	0.418																																						uc001giq.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1801-1803)CAG>CTG		chromosome 1 open reading frame 9 protein							95.0	91.0	92.0					1																	172558043		2203	4300	6503	SO:0001583	missense	51430				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane		g.chr1:172558043A>T	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1802A>T	1.37:g.172558043A>T	ENSP00000263688:p.Gln601Leu					C1orf9_uc010pmm.1_Missense_Mutation_p.Q601L|C1orf9_uc009wwd.2_Missense_Mutation_p.Q557L|C1orf9_uc010pmn.1_Missense_Mutation_p.Q564L|C1orf9_uc010pmo.1_RNA	p.Q601L	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)	18	2118	+		Breast(1374;0.212)	601					B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.1802A>T	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.097092	0.76870	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.44	5.44	0.79542	.	0.187707	0.48767	D	0.000171	T	0.58221	0.2107	M	0.67953	2.075	0.51233	D	0.999914	B;D;D;D	0.58970	0.028;0.984;0.984;0.984	B;P;P;P	0.53360	0.001;0.649;0.724;0.724	T	0.62849	-0.6767	9	0.49607	T	0.09	-10.5015	14.3217	0.66491	1.0:0.0:0.0:0.0	.	564;601;753;601	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	L	753;601	.	ENSP00000263688:Q601L	Q	+	2	0	C1orf9	170824666	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	5.269000	0.65542	2.056000	0.61249	0.455000	0.32223	CAG		PASS	0.418	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		19	69	19	69	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175048476	175048476	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:175048476C>A	ENST00000239462.4	+	3	530	c.417C>A	c.(415-417)agC>agA	p.S139R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	139					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.S139R(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGATCTAAGCCGCCACTGCA	0.637																																						uc001gkl.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(415-417)AGC>AGA		tenascin N precursor							11.0	13.0	13.0					1																	175048476		1978	3944	5922	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175048476C>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.417C>A	1.37:g.175048476C>A	ENSP00000239462:p.Ser139Arg					TNN_uc010pmx.1_Missense_Mutation_p.S139R	p.S139R	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	3	530	+		Breast(1374;0.000962)	139					B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.417C>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	3.922	-0.017980	0.07681	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.25579	1.79	4.52	0.381	0.16228	.	0.158318	0.56097	D	0.000026	T	0.13970	0.0338	L	0.39020	1.185	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.30119	-0.9989	10	0.12766	T	0.61	.	4.752	0.13064	0.0:0.5659:0.1564:0.2777	.	139;139	B3KXB6;Q9UQP3	.;TENN_HUMAN	R	139	ENSP00000239462:S139R	ENSP00000239462:S139R	S	+	3	2	TNN	173315099	0.000000	0.05858	0.009000	0.14445	0.015000	0.08874	-0.145000	0.10265	-0.119000	0.11830	-0.802000	0.03209	AGC		PASS	0.637	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		10	28	10	28	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175067548	175067548	+	Missense_Mutation	SNP	G	G	A	rs200671106		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:175067548G>A	ENST00000239462.4	+	9	2049	c.1936G>A	c.(1936-1938)Gcc>Acc	p.A646T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	646	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.A646T(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGTGCAGGCCGCCATTGACAA	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		18288	0.0		0.0	False		,,,				2504	0.001					uc001gkl.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(1936-1938)GCC>ACC		tenascin N precursor							78.0	81.0	80.0					1																	175067548		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175067548G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1936G>A	1.37:g.175067548G>A	ENSP00000239462:p.Ala646Thr					TNN_uc010pmx.1_Missense_Mutation_p.A557T	p.A646T	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	9	2049	+		Breast(1374;0.000962)	646			Fibronectin type-III 5.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.1936G>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	0.664	-0.804454	0.02819	.	.	ENSG00000120332	ENST00000239462	T	0.56776	0.44	5.14	-1.43	0.08884	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.404290	0.03970	N	0.291484	T	0.31606	0.0802	N	0.05414	-0.055	0.09310	N	1	B;B	0.14012	0.005;0.009	B;B	0.18263	0.013;0.021	T	0.18461	-1.0336	10	0.34782	T	0.22	.	6.7602	0.23536	0.2921:0.3133:0.3946:0.0	.	646;646	B3KXB6;Q9UQP3	.;TENN_HUMAN	T	646	ENSP00000239462:A646T	ENSP00000239462:A646T	A	+	1	0	TNN	173334171	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.053000	0.14184	-0.362000	0.08113	-1.641000	0.00772	GCC		PASS	0.582	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		30	84	30	84	---	---	---	---
BRINP2	57795	broad.mit.edu	37	1	177250324	177250324	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:177250324C>A	ENST00000361539.4	+	8	2324	c.2012C>A	c.(2011-2013)cCc>cAc	p.P671H	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	671					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.P671H(1)									ATGACTGATCCCTCTAAGAAT	0.463																																						uc001glf.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(2011-2013)CCC>CAC		family with sequence similarity 5, member B							74.0	71.0	72.0					1																	177250324		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177250324C>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.2012C>A	1.37:g.177250324C>A	ENSP00000354481:p.Pro671His					FAM5B_uc001glg.2_Missense_Mutation_p.P566H	p.P671H	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			8	2324	+			671					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.2012C>A	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030371	0.35797	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.15718	2.4	5.15	5.15	0.70609	.	0.144745	0.50627	D	0.000101	T	0.28267	0.0698	L	0.49350	1.555	0.49299	D	0.999776	B;D	0.63046	0.338;0.992	B;P	0.50970	0.168;0.655	T	0.01298	-1.1392	10	0.52906	T	0.07	-23.2423	18.2044	0.89850	0.0:1.0:0.0:0.0	.	566;671	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	H	424;671	ENSP00000354481:P671H	ENSP00000354481:P671H	P	+	2	0	FAM5B	175516947	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.818000	0.62657	2.386000	0.81285	0.305000	0.20034	CCC		PASS	0.463	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		44	73	44	73	---	---	---	---
FAM163A	148753	broad.mit.edu	37	1	179782944	179782944	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:179782944G>T	ENST00000341785.4	+	5	520	c.124G>T	c.(124-126)Gtt>Ttt	p.V42F	RP11-12M5.3_ENST00000453051.1_RNA|RP11-12M5.3_ENST00000415218.1_RNA	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	42						integral component of membrane (GO:0016021)		p.V42F(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						CGGAACCGAGGTTGCAGACGA	0.632																																						uc009wxj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(124-126)GTT>TTT		hypothetical protein LOC148753							49.0	44.0	46.0					1																	179782944		2203	4300	6503	SO:0001583	missense	148753					integral to membrane		g.chr1:179782944G>T	BC009382	CCDS1333.1	1q25.2	2008-06-05	2008-06-05	2008-06-05	ENSG00000143340	ENSG00000143340			28274	protein-coding gene	gene with protein product		611727	"""chromosome 1 open reading frame 76"""	C1orf76		12477932	Standard	NM_173509		Approved	MGC16664	uc001gnj.3	Q96GL9	OTTHUMG00000035262	ENST00000341785.4:c.124G>T	1.37:g.179782944G>T	ENSP00000354891:p.Val42Phe					FAM163A_uc001gnj.2_Missense_Mutation_p.V42F|FAM163A_uc009wxk.2_Missense_Mutation_p.V42F	p.V42F	NM_173509	NP_775780	Q96GL9	F163A_HUMAN			6	583	+			42					A8K8R7	Missense_Mutation	SNP	ENST00000341785.4	37	c.124G>T	CCDS1333.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594217	0.28445	.	.	ENSG00000143340	ENST00000341785	.	.	.	4.63	3.72	0.42706	.	0.511715	0.21465	N	0.074092	T	0.22627	0.0546	N	0.08118	0	0.19300	N	0.99998	B	0.13145	0.007	B	0.06405	0.002	T	0.18967	-1.0320	9	0.87932	D	0	0.0078	8.8413	0.35144	0.1738:0.0:0.8262:0.0	.	42	Q96GL9	F163A_HUMAN	F	42	.	ENSP00000354891:V42F	V	+	1	0	FAM163A	178049567	0.988000	0.35896	0.627000	0.29227	0.386000	0.30323	3.320000	0.51991	1.082000	0.41137	0.462000	0.41574	GTT		PASS	0.632	FAM163A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085300.1	NM_173509		31	45	31	45	---	---	---	---
ZNF648	127665	broad.mit.edu	37	1	182026108	182026108	+	Silent	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:182026108G>A	ENST00000339948.3	-	2	1245	c.1038C>T	c.(1036-1038)cgC>cgT	p.R346R		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	346					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.R346R(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGTCCGAAGAGCGCACGAAGG	0.622																																					NSCLC(71;908 1374 5429 20458 35642)	uc001goz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1036-1038)CGC>CGT		zinc finger protein 648							92.0	86.0	88.0					1																	182026108		2203	4300	6503	SO:0001819	synonymous_variant	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182026108G>A	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.1038C>T	1.37:g.182026108G>A							p.R346R	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN			2	1246	-			346			C2H2-type 3.		B2RP16	Silent	SNP	ENST00000339948.3	37	c.1038C>T	CCDS30952.1																																																																																				PASS	0.622	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		13	25	13	25	---	---	---	---
SWT1	54823	broad.mit.edu	37	1	185159726	185159726	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:185159726G>C	ENST00000367500.4	+	10	1640	c.1475G>C	c.(1474-1476)tGt>tCt	p.C492S	SWT1_ENST00000367501.3_Missense_Mutation_p.C492S	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	492	PINc.							p.C492S(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CTAAAATGCTGTCTCCAGCAC	0.343																																						uc001grg.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1474-1476)TGT>TCT		hypothetical protein LOC54823							171.0	154.0	159.0					1																	185159726		2203	4300	6503	SO:0001583	missense	54823							g.chr1:185159726G>C	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1475G>C	1.37:g.185159726G>C	ENSP00000356470:p.Cys492Ser					C1orf26_uc001grh.3_Missense_Mutation_p.C492S	p.C492S	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN			10	1589	+			492			PINc.		Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.1475G>C	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204700	0.79127	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.57436	0.4;0.4	5.65	5.65	0.86999	Nucleotide binding protein, PINc (1);	0.000000	0.85682	D	0.000000	T	0.79287	0.4420	M	0.92026	3.265	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	D	0.83516	0.0083	10	0.72032	D	0.01	.	17.9094	0.88929	0.0:0.0:1.0:0.0	.	492	Q5T5J6	SWT1_HUMAN	S	492	ENSP00000356471:C492S;ENSP00000356470:C492S	ENSP00000356470:C492S	C	+	2	0	SWT1	183426349	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.205000	0.77881	2.649000	0.89929	0.655000	0.94253	TGT		PASS	0.343	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		11	70	11	70	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186114606	186114606	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:186114606C>T	ENST00000271588.4	+	92	14567	c.14338C>T	c.(14338-14340)Cgg>Tgg	p.R4780W	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4780W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4780	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R4780W(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCAGATGCGGCGGTACCGCAC	0.557																																						uc001grq.1																			1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(14338-14340)CGG>TGG		hemicentin 1 precursor							98.0	89.0	92.0					1																	186114606		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186114606C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14338C>T	1.37:g.186114606C>T	ENSP00000271588:p.Arg4780Trp					HMCN1_uc001grs.1_Missense_Mutation_p.R349W	p.R4780W	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			92	14567	+			4780			TSP type-1 5.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14338C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983865	0.74474	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.80909	-1.43;-1.43	5.44	3.38	0.38709	.	0.000000	0.85682	D	0.000000	D	0.93501	0.7926	H	0.98388	4.22	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.95951	0.8954	10	0.87932	D	0	.	15.0893	0.72180	0.3355:0.6645:0.0:0.0	.	4780	Q96RW7	HMCN1_HUMAN	W	4780	ENSP00000271588:R4780W;ENSP00000356462:R4780W	ENSP00000271588:R4780W	R	+	1	2	HMCN1	184381229	1.000000	0.71417	0.998000	0.56505	0.774000	0.43823	0.892000	0.28322	1.269000	0.44280	0.655000	0.94253	CGG		PASS	0.557	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		33	41	33	41	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197112556	197112556	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:197112556C>A	ENST00000367409.4	-	3	1082	c.826G>T	c.(826-828)Gta>Tta	p.V276L	ASPM_ENST00000294732.7_Missense_Mutation_p.V276L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	276					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.V276L(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						GTTTCAGTTACAGCTTTCTCA	0.353																																						uc001gtu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(826-828)GTA>TTA		asp (abnormal spindle)-like, microcephaly							90.0	88.0	89.0					1																	197112556		2203	4299	6502	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197112556C>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.826G>T	1.37:g.197112556C>A	ENSP00000356379:p.Val276Leu					ASPM_uc001gtv.2_Missense_Mutation_p.V276L|ASPM_uc001gtw.3_Intron	p.V276L	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			3	1083	-			276					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.826G>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	8.280	0.815269	0.16607	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.59638	0.25;1.57	5.49	-10.7	0.00240	.	1.691460	0.03174	N	0.171156	T	0.36220	0.0959	L	0.36672	1.1	0.09310	N	1	B;B	0.22480	0.0;0.07	B;B	0.19148	0.0;0.024	T	0.07158	-1.0787	10	0.20046	T	0.44	.	3.9883	0.09525	0.0989:0.4593:0.1828:0.259	.	276;276	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	L	276	ENSP00000356379:V276L;ENSP00000294732:V276L	ENSP00000294732:V276L	V	-	1	0	ASPM	195379179	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.925000	0.01564	-2.053000	0.00901	-0.334000	0.08254	GTA		PASS	0.353	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		22	92	22	92	---	---	---	---
TNNT2	7139	broad.mit.edu	37	1	201333496	201333496	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:201333496C>A	ENST00000509001.1	-	10	675	c.389G>T	c.(388-390)cGt>cTt	p.R130L	TNNT2_ENST00000458432.2_Missense_Mutation_p.R142L|TNNT2_ENST00000367317.4_Missense_Mutation_p.R130L|TNNT2_ENST00000360372.4_Missense_Mutation_p.R125L|TNNT2_ENST00000421663.2_Missense_Mutation_p.R132L|TNNT2_ENST00000367322.1_Missense_Mutation_p.R130L|TNNT2_ENST00000367320.2_Missense_Mutation_p.R100L|TNNT2_ENST00000367318.5_Missense_Mutation_p.R130L|TNNT2_ENST00000460780.1_5'Flank|TNNT2_ENST00000236918.7_Missense_Mutation_p.R135L|TNNT2_ENST00000367315.2_Missense_Mutation_p.R130L	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	140					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)	p.R130L(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CTCTGCCCGACGTCTCTCCTA	0.622																																						uc001gwf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(418-420)CGT>CTT		troponin T type 2, cardiac isoform 1							38.0	34.0	35.0					1																	201333496		2203	4300	6503	SO:0001583	missense	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201333496C>A	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.389G>T	1.37:g.201333496C>A	ENSP00000422031:p.Arg130Leu					TNNT2_uc009wzn.2_5'Flank|TNNT2_uc009wzo.2_5'Flank|TNNT2_uc009wzp.2_5'Flank|TNNT2_uc001gwg.2_Missense_Mutation_p.R130L|TNNT2_uc001gwh.2_Missense_Mutation_p.R125L|TNNT2_uc001gwi.2_Missense_Mutation_p.R100L|TNNT2_uc009wzr.2_Missense_Mutation_p.R71L|TNNT2_uc001gwj.1_5'Flank|TNNT2_uc009wzs.1_Missense_Mutation_p.R105L|TNNT2_uc001gwk.1_Missense_Mutation_p.R71L|TNNT2_uc009wzt.1_Missense_Mutation_p.R130L	p.R140L	NM_000364	NP_000355	P45379	TNNT2_HUMAN			11	488	-			140		R -> C (in CMH2).			A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Missense_Mutation	SNP	ENST00000509001.1	37	c.419G>T	CCDS30969.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592548	0.66219	.	.	ENSG00000118194	ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000357848;ENST00000367319;ENST00000367320;ENST00000509001;ENST00000438742;ENST00000455702	D;D;D;D;D;D;D;D;D;D;D;D	0.98777	-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-5.13;-2.85;-2.85;-2.85	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	D	0.99284	0.9750	M	0.93678	3.445	0.80722	D	1	D;D;D;D;D;D	0.71674	0.989;0.997;0.997;0.998;0.979;0.997	D;D;D;D;D;D	0.70227	0.909;0.945;0.945;0.968;0.93;0.945	D	0.98832	1.0751	10	0.87932	D	0	-16.5004	15.2601	0.73615	0.0:1.0:0.0:0.0	.	125;142;139;140;130;140	E7EPW4;F8WAF6;P45379-3;P45379;Q9BUF6;P45379-10	.;.;.;TNNT2_HUMAN;.;.	L	130;130;142;132;135;130;130;125;126;71;100;130;125;140	ENSP00000356291:R130L;ENSP00000356287:R130L;ENSP00000387874:R142L;ENSP00000404134:R132L;ENSP00000236918:R135L;ENSP00000356286:R130L;ENSP00000356284:R130L;ENSP00000353535:R125L;ENSP00000356289:R100L;ENSP00000422031:R130L;ENSP00000414036:R125L;ENSP00000402238:R140L	ENSP00000236918:R135L	R	-	2	0	TNNT2	199600119	1.000000	0.71417	0.943000	0.38184	0.151000	0.21798	7.426000	0.80270	1.926000	0.55796	0.491000	0.48974	CGT		PASS	0.622	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364		14	20	14	20	---	---	---	---
PRELP	5549	broad.mit.edu	37	1	203455862	203455862	+	Silent	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:203455862C>T	ENST00000343110.2	+	3	1129	c.1002C>T	c.(1000-1002)aaC>aaT	p.N334N		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	334			N -> S (in dbSNP:rs2233732).		carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.N334N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			TTTGCCCCAACGACCTAGTGG	0.572																																						uc001gzs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1000-1002)AAC>AAT		proline arginine-rich end leucine-rich repeat							103.0	96.0	98.0					1																	203455862		2203	4300	6503	SO:0001819	synonymous_variant	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203455862C>T	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.1002C>T	1.37:g.203455862C>T						PRELP_uc001gzt.2_Silent_p.N334N	p.N334N	NM_002725	NP_002716	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	1202	+			334			LRR 11.		Q6FG38	Silent	SNP	ENST00000343110.2	37	c.1002C>T	CCDS1438.1																																																																																				PASS	0.572	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		14	89	14	89	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204438248	204438248	+	Missense_Mutation	SNP	T	T	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:204438248T>A	ENST00000367187.3	-	3	1239	c.683A>T	c.(682-684)tAt>tTt	p.Y228F	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.Y228F	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	228	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.Y228F(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GATACCATCATAGTCCACAGA	0.562																																						uc001haw.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(682-684)TAT>TTT		phosphoinositide-3-kinase, class 2 beta							239.0	275.0	263.0					1																	204438248		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438248T>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.683A>T	1.37:g.204438248T>A	ENSP00000356155:p.Tyr228Phe					PIK3C2B_uc010pqv.1_Missense_Mutation_p.Y228F|PIK3C2B_uc001hax.1_Missense_Mutation_p.Y228F|PIK3C2B_uc009xbd.1_RNA	p.Y228F	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	1162	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		228			Interaction with GRB2.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.683A>T	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.973095	0.34848	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.61510	0.18;0.1	5.35	2.85	0.33270	.	0.741341	0.12456	N	0.467321	T	0.36771	0.0979	N	0.17082	0.46	0.28833	N	0.897027	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.003	T	0.25082	-1.0142	10	0.11794	T	0.64	.	8.9766	0.35939	0.2952:0.0:0.0:0.7048	.	228;228	F5GWN5;O00750	.;P3C2B_HUMAN	F	228	ENSP00000356155:Y228F;ENSP00000400561:Y228F	ENSP00000356155:Y228F	Y	-	2	0	PIK3C2B	202704871	1.000000	0.71417	0.982000	0.44146	0.826000	0.46750	1.845000	0.39279	0.844000	0.35094	0.379000	0.24179	TAT		PASS	0.562	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		198	301	198	301	---	---	---	---
LAMB3	3914	broad.mit.edu	37	1	209795922	209795922	+	Missense_Mutation	SNP	C	C	T	rs183045589	byFrequency	TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:209795922C>T	ENST00000356082.4	-	18	2794	c.2660G>A	c.(2659-2661)cGc>cAc	p.R887H	LAMB3_ENST00000391911.1_Missense_Mutation_p.R887H|LAMB3_ENST00000367030.3_Missense_Mutation_p.R887H|MIR4260_ENST00000583107.1_RNA	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	887	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.R887H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GAGCCGTGTGCGTCTGACATC	0.617													C|||	2	0.000399361	0.0	0.0	5008	,	,		18344	0.0		0.002	False		,,,				2504	0.0					uc001hhg.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6						c.(2659-2661)CGC>CAC		laminin, beta 3 precursor							190.0	178.0	182.0					1																	209795922		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209795922C>T	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.2660G>A	1.37:g.209795922C>T	ENSP00000348384:p.Arg887His					LAMB3_uc009xco.2_Missense_Mutation_p.R887H|LAMB3_uc001hhh.2_Missense_Mutation_p.R887H	p.R887H	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	17	3050	-			887			Domain I.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.2660G>A	CCDS1487.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	8.127	0.782315	0.16189	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.22539	1.95;1.95;1.95	5.56	2.68	0.31781	.	0.349696	0.34088	N	0.004263	T	0.14700	0.0355	M	0.61703	1.905	0.09310	N	1	P	0.41597	0.756	B	0.29077	0.098	T	0.20306	-1.0279	10	0.33940	T	0.23	.	5.6341	0.17526	0.1377:0.65:0.0:0.2123	.	887	Q13751	LAMB3_HUMAN	H	887	ENSP00000375778:R887H;ENSP00000348384:R887H;ENSP00000355997:R887H	ENSP00000348384:R887H	R	-	2	0	LAMB3	207862545	0.670000	0.27512	0.006000	0.13384	0.156000	0.22039	0.576000	0.23744	0.318000	0.23185	0.456000	0.33151	CGC		PASS	0.617	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		6	173	6	173	---	---	---	---
LAMB3	3914	broad.mit.edu	37	1	209796418	209796418	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:209796418A>T	ENST00000356082.4	-	17	2599	c.2465T>A	c.(2464-2466)cTt>cAt	p.L822H	LAMB3_ENST00000391911.1_Missense_Mutation_p.L822H|LAMB3_ENST00000367030.3_Missense_Mutation_p.L822H|MIR4260_ENST00000583107.1_RNA	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	822	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.L822H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGCCCTGGGAAGGACACCCCT	0.637																																						uc001hhg.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6						c.(2464-2466)CTT>CAT		laminin, beta 3 precursor							54.0	64.0	60.0					1																	209796418		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209796418A>T	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.2465T>A	1.37:g.209796418A>T	ENSP00000348384:p.Leu822His					LAMB3_uc009xco.2_Missense_Mutation_p.L822H|LAMB3_uc001hhh.2_Missense_Mutation_p.L822H|LAMB3_uc010psl.1_RNA	p.L822H	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	16	2855	-			822			Domain I.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.2465T>A	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.979876	0.53827	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.39997	1.05;1.05;1.05	5.21	4.06	0.47325	.	0.413451	0.24447	N	0.038453	T	0.57902	0.2085	M	0.75447	2.3	0.25422	N	0.988261	D	0.76494	0.999	D	0.64042	0.921	T	0.51949	-0.8640	10	0.62326	D	0.03	.	7.9706	0.30126	0.7238:0.1411:0.0:0.1351	.	822	Q13751	LAMB3_HUMAN	H	822	ENSP00000375778:L822H;ENSP00000348384:L822H;ENSP00000355997:L822H	ENSP00000348384:L822H	L	-	2	0	LAMB3	207863041	0.003000	0.15002	0.982000	0.44146	0.678000	0.39670	1.118000	0.31246	0.820000	0.34516	0.374000	0.22700	CTT		PASS	0.637	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		13	64	13	64	---	---	---	---
HSD11B1	3290	broad.mit.edu	37	1	209907787	209907787	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:209907787T>C	ENST00000367028.2	+	7	969	c.800T>C	c.(799-801)cTg>cCg	p.L267P	HSD11B1_ENST00000261465.1_Missense_Mutation_p.L267P|HSD11B1_ENST00000367027.3_Missense_Mutation_p.L267P	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	267					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)	p.L267P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	ACCACTCTTCTGATCAGAAAT	0.478																																						uc001hhj.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(799-801)CTG>CCG		11-beta-hydroxysteroid dehydrogenase 1	NADH(DB00157)						133.0	126.0	129.0					1																	209907787		2203	4300	6503	SO:0001583	missense	3290				glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase (NADP+) activity|11-beta-hydroxysteroid dehydrogenase|binding	g.chr1:209907787T>C	BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5208	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 26C, member 1"""	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.800T>C	1.37:g.209907787T>C	ENSP00000355995:p.Leu267Pro					HSD11B1_uc001hhk.2_Missense_Mutation_p.L267P	p.L267P	NM_181755	NP_861420	P28845	DHI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	7	907	+			267			Lumenal (Potential).		B2R9Z1|D3DT89	Missense_Mutation	SNP	ENST00000367028.2	37	c.800T>C	CCDS1489.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.186403	0.57909	.	.	ENSG00000117594	ENST00000367028;ENST00000261465;ENST00000367027	D;D;D	0.84730	-1.89;-1.89;-1.89	5.13	3.92	0.45320	.	0.135267	0.50627	D	0.000116	D	0.91673	0.7368	M	0.85197	2.74	0.53688	D	0.999974	D	0.89917	1.0	D	0.79108	0.992	D	0.91624	0.5313	10	0.51188	T	0.08	.	10.9886	0.47537	0.1402:0.0:0.0:0.8598	.	267	P28845	DHI1_HUMAN	P	267	ENSP00000355995:L267P;ENSP00000261465:L267P;ENSP00000355994:L267P	ENSP00000261465:L267P	L	+	2	0	HSD11B1	207974410	0.309000	0.24518	0.788000	0.31933	0.082000	0.17680	2.750000	0.47500	2.279000	0.76181	0.533000	0.62120	CTG		PASS	0.478	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088743.2	NM_005525		43	61	43	61	---	---	---	---
LEFTY2	7044	broad.mit.edu	37	1	226128595	226128595	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:226128595G>T	ENST00000366820.5	-	1	594	c.246C>A	c.(244-246)ttC>ttA	p.F82L	LEFTY2_ENST00000474493.1_5'Flank|LEFTY2_ENST00000420304.2_Missense_Mutation_p.F82L	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	82					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)		p.F82L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					TCTCACCTCGGAAGCTCTGGC	0.687																																					Colon(172;116 2643 9098 43333)	uc001hpt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(244-246)TTC>TTA		endometrial bleeding associated factor							43.0	49.0	47.0					1																	226128595		2203	4300	6503	SO:0001583	missense	7044				cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226128595G>T	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"""transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"""	601877	"""endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"""	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.246C>A	1.37:g.226128595G>T	ENSP00000355785:p.Phe82Leu					LEFTY2_uc010pvk.1_Missense_Mutation_p.F82L|LEFTY2_uc009xek.1_Missense_Mutation_p.F82L	p.F82L	NM_003240	NP_003231	O00292	LFTY2_HUMAN			1	326	-	Breast(184;0.197)		82					B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Missense_Mutation	SNP	ENST00000366820.5	37	c.246C>A	CCDS1549.1	.	.	.	.	.	.	.	.	.	.	g	5.301	0.240964	0.10077	.	.	ENSG00000143768	ENST00000420304;ENST00000366820	T;T	0.63417	-0.04;0.01	5.13	-2.71	0.05986	Transforming growth factor-beta, N-terminal (1);	0.227051	0.43260	D	0.000588	T	0.20455	0.0492	N	0.01048	-1.04	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.002;0.002;0.005	T	0.38308	-0.9667	10	0.07030	T	0.85	.	5.7188	0.17974	0.4924:0.0:0.3761:0.1315	.	82;82;82	E9PDM4;B4E332;O00292	.;.;LFTY2_HUMAN	L	82	ENSP00000388009:F82L;ENSP00000355785:F82L	ENSP00000355785:F82L	F	-	3	2	LEFTY2	224195218	0.979000	0.34478	0.897000	0.35233	0.720000	0.41350	0.503000	0.22610	-0.145000	0.11294	-0.224000	0.12420	TTC		PASS	0.687	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240		35	43	35	43	---	---	---	---
ZNF678	339500	broad.mit.edu	37	1	227842954	227842954	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:227842954C>T	ENST00000343776.5	+	4	1348	c.1003C>T	c.(1003-1005)Cac>Tac	p.H335Y	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.H390Y	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	335					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.H390Y(1)|p.H335Y(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TCGGTGTTCACACCTAAGTAG	0.383																																						uc001hqw.1																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1003-1005)CAC>TAC		zinc finger protein 678							30.0	35.0	34.0					1																	227842954		2199	4292	6491	SO:0001583	missense	339500				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr1:227842954C>T	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.1003C>T	1.37:g.227842954C>T	ENSP00000344828:p.His335Tyr					ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron	p.H335Y	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN			4	1348	+		Prostate(94;0.0885)	390					Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37	c.1003C>T		.	.	.	.	.	.	.	.	.	.	C	0.004	-2.316716	0.00235	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.35973	1.28;1.28	1.34	-2.68	0.06041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18800	0.0451	N	0.16478	0.41	0.09310	N	1	B	0.22909	0.077	B	0.32090	0.14	T	0.24297	-1.0164	9	0.29301	T	0.29	.	1.5307	0.02535	0.1669:0.3476:0.3169:0.1686	.	335	Q5SXM1	ZN678_HUMAN	Y	335;390	ENSP00000344828:H335Y;ENSP00000440403:H390Y	ENSP00000344828:H335Y	H	+	1	0	ZNF678	225909577	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.675000	0.00057	-2.119000	0.00827	-2.164000	0.00325	CAC		PASS	0.383	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549		9	47	9	47	---	---	---	---
TAF5L	27097	broad.mit.edu	37	1	229730793	229730793	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:229730793G>A	ENST00000366676.1	-	4	1020	c.1021C>T	c.(1021-1023)Cac>Tac	p.H341Y	TAF5L_ENST00000258281.2_Missense_Mutation_p.H341Y			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	341					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.H341Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GGTCCGCAGTGGCCCCGCAGT	0.522																																						uc001htq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1021-1023)CAC>TAC		PCAF associated factor 65 beta isoform a							95.0	87.0	90.0					1																	229730793		2203	4300	6503	SO:0001583	missense	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229730793G>A	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1021C>T	1.37:g.229730793G>A	ENSP00000355636:p.His341Tyr						p.H341Y	NM_014409	NP_055224	O75529	TAF5L_HUMAN			5	1187	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	341			WD 2.		Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	c.1021C>T	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372238	0.61624	.	.	ENSG00000135801	ENST00000366676;ENST00000258281	T;T	0.81415	-1.49;-1.49	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.043815	0.85682	D	0.000000	D	0.92401	0.7588	M	0.91768	3.24	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.92863	0.6307	10	0.62326	D	0.03	-37.4312	20.2422	0.98381	0.0:0.0:1.0:0.0	.	341	O75529	TAF5L_HUMAN	Y	341	ENSP00000355636:H341Y;ENSP00000258281:H341Y	ENSP00000258281:H341Y	H	-	1	0	TAF5L	227797416	1.000000	0.71417	0.990000	0.47175	0.108000	0.19459	9.860000	0.99555	2.782000	0.95742	0.655000	0.94253	CAC		PASS	0.522	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		39	48	39	48	---	---	---	---
MAP10	54627	broad.mit.edu	37	1	232941915	232941915	+	Silent	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:232941915A>G	ENST00000418460.1	+	1	1273	c.1146A>G	c.(1144-1146)ccA>ccG	p.P382P		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	240					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)	p.P382P(2)									TAGAAATCCCAGAGGCACAGA	0.488																																						uc001hvh.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1144-1146)CCA>CCG		hypothetical protein LOC54627							178.0	182.0	180.0					1																	232941915		1931	4152	6083	SO:0001819	synonymous_variant	54627							g.chr1:232941915A>G	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.1146A>G	1.37:g.232941915A>G							p.P382P	NM_019090	NP_061963	Q9P2G4	K1383_HUMAN			1	1278	+		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)	240					A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Silent	SNP	ENST00000418460.1	37	c.1146A>G	CCDS44334.1																																																																																				PASS	0.488	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		96	157	96	157	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235892930	235892930	+	Silent	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:235892930T>C	ENST00000389794.3	-	37	9246	c.9072A>G	c.(9070-9072)gcA>gcG	p.A3024A	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.A3024A			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3024					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.A3024A(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTCTAGATGGTGCAACACTGA	0.323																																						uc001hxj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(9070-9072)GCA>GCG		lysosomal trafficking regulator							97.0	91.0	93.0					1																	235892930		2202	4299	6501	SO:0001819	synonymous_variant	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235892930T>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.9072A>G	1.37:g.235892930T>C						LYST_uc001hxi.2_Silent_p.A248A	p.A3024A	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		37	9247	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3024					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.9072A>G	CCDS31062.1																																																																																				PASS	0.323	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			5	65	5	65	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237919650	237919650	+	Silent	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:237919650G>A	ENST00000366574.2	+	81	11525	c.11208G>A	c.(11206-11208)gcG>gcA	p.A3736A	RYR2_ENST00000542537.1_Silent_p.A3720A|RYR2_ENST00000360064.6_Silent_p.A3742A|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3736					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A3734A(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCGTGGCGCGGCTGAGATGG	0.478																																						uc001hyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(11206-11208)GCG>GCA		cardiac muscle ryanodine receptor							93.0	97.0	96.0					1																	237919650		1962	4163	6125	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237919650G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11208G>A	1.37:g.237919650G>A						RYR2_uc010pya.1_Silent_p.A151A	p.A3736A	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		81	11328	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3736					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.11208G>A	CCDS55691.1																																																																																				PASS	0.478	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		14	60	14	60	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237948177	237948177	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:237948177G>C	ENST00000366574.2	+	90	13482	c.13165G>C	c.(13165-13167)Gga>Cga	p.G4389R	RYR2_ENST00000542537.1_Missense_Mutation_p.G4373R|RYR2_ENST00000360064.6_Missense_Mutation_p.G4395R|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4389					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G4387R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGAGAAGGAGGACAGTACAA	0.507																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(13165-13167)GGA>CGA		cardiac muscle ryanodine receptor							37.0	36.0	37.0					1																	237948177		1941	4126	6067	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237948177G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13165G>C	1.37:g.237948177G>C	ENSP00000355533:p.Gly4389Arg					RYR2_uc010pya.1_Missense_Mutation_p.G804R	p.G4389R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13285	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4389					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.13165G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495582	0.85069	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.94000	-3.33;-3.33;-3.33	5.77	5.77	0.91146	Ryanodine Receptor TM 4-6 (1);	0.000000	0.64402	D	0.000006	D	0.95893	0.8663	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.97110	0.979;1.0	D	0.95880	0.8898	10	0.72032	D	0.01	-13.8985	19.9837	0.97340	0.0:0.0:1.0:0.0	.	1363;4389	B4DGV4;Q92736	.;RYR2_HUMAN	R	4389;4395;4373;1363	ENSP00000355533:G4389R;ENSP00000353174:G4395R;ENSP00000443798:G4373R	ENSP00000353174:G4395R	G	+	1	0	RYR2	236014800	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.735000	0.98825	2.723000	0.93209	0.655000	0.94253	GGA		PASS	0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	25	5	25	---	---	---	---
WDR64	128025	broad.mit.edu	37	1	241904845	241904845	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:241904845T>C	ENST00000366552.2	+	11	1526	c.1319T>C	c.(1318-1320)tTg>tCg	p.L440S	WDR64_ENST00000437684.2_Missense_Mutation_p.L440S	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	440								p.L440S(1)|p.L160S(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ATGTATCCTTTGACTAGGATG	0.348																																						uc001hze.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1318-1320)TTG>TCG		RecName: Full=WD repeat-containing protein 64;							133.0	121.0	125.0					1																	241904845		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241904845T>C	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1319T>C	1.37:g.241904845T>C	ENSP00000355510:p.Leu440Ser					WDR64_uc001hzf.1_Missense_Mutation_p.L160S	p.L440S			B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		11	1526	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	440			WD 5.		B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.1319T>C		.	.	.	.	.	.	.	.	.	.	T	16.55	3.155163	0.57259	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.49139	0.88;0.92;0.79	5.49	4.35	0.52113	.	0.292461	0.22665	N	0.057153	T	0.45816	0.1361	M	0.71581	2.175	0.28701	N	0.904066	B	0.33266	0.404	B	0.32149	0.141	T	0.50021	-0.8876	10	0.62326	D	0.03	-5.4219	9.2795	0.37720	0.0:0.0836:0.0:0.9164	.	160	D1MPS4	.	S	440;440;211	ENSP00000355510:L440S;ENSP00000402446:L440S;ENSP00000406656:L211S	ENSP00000355510:L440S	L	+	2	0	WDR64	239971468	1.000000	0.71417	0.715000	0.30552	0.857000	0.48899	4.795000	0.62489	0.912000	0.36772	0.533000	0.62120	TTG		PASS	0.348	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		10	55	10	55	---	---	---	---
OR11L1	391189	broad.mit.edu	37	1	248004752	248004752	+	Missense_Mutation	SNP	C	C	A	rs148330672		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:248004752C>A	ENST00000355784.2	-	1	502	c.447G>T	c.(445-447)tgG>tgT	p.W149C		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	149						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W149C(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCCCTGTGCACCAGGAGACCA	0.577																																						uc001idn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(445-447)TGG>TGT		olfactory receptor, family 11, subfamily L,							68.0	66.0	67.0					1																	248004752		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004752C>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.447G>T	1.37:g.248004752C>A	ENSP00000348033:p.Trp149Cys						p.W149C	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	447	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		149			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000355784.2	37	c.447G>T	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.973055	0.34848	.	.	ENSG00000197591	ENST00000355784	T	0.59638	0.25	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34484	U	0.003929	T	0.76737	0.4029	M	0.77103	2.36	0.53688	D	0.999978	D	0.89917	1.0	D	0.97110	1.0	T	0.80763	-0.1237	10	0.87932	D	0	.	17.1903	0.86877	0.0:1.0:0.0:0.0	.	149	Q8NGX0	O11L1_HUMAN	C	149	ENSP00000348033:W149C	ENSP00000348033:W149C	W	-	3	0	OR11L1	246071375	0.004000	0.15560	0.905000	0.35620	0.014000	0.08584	0.955000	0.29188	2.450000	0.82876	0.543000	0.68304	TGG		PASS	0.577	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		18	61	18	61	---	---	---	---
OR2AK2	391191	broad.mit.edu	37	1	248129099	248129099	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:248129099T>C	ENST00000366480.3	+	1	565	c.466T>C	c.(466-468)Tgc>Cgc	p.C156R	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C156R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CAAGAAGATCTGCTGCCTCAT	0.433																																					Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(466-468)TGC>CGC		olfactory receptor, family 2, subfamily AK,							257.0	229.0	238.0					1																	248129099		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129099T>C	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.466T>C	1.37:g.248129099T>C	ENSP00000355436:p.Cys156Arg					OR2L13_uc001ids.2_Intron	p.C156R	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	466	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		156			Helical; Name=4; (Potential).		B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.466T>C	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	11.96	1.796067	0.31777	.	.	ENSG00000187080	ENST00000366480	T	0.00241	8.46	3.03	0.454	0.16644	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00496	0.0016	M	0.85462	2.755	0.18873	N	0.999989	D	0.89917	1.0	D	0.97110	1.0	T	0.48714	-0.9011	9	0.72032	D	0.01	.	4.2479	0.10680	0.177:0.1088:0.0:0.7142	.	156	Q8NG84	O2AK2_HUMAN	R	156	ENSP00000355436:C156R	ENSP00000355436:C156R	C	+	1	0	OR2AK2	246195722	0.007000	0.16637	0.000000	0.03702	0.032000	0.12392	0.452000	0.21795	-0.033000	0.13736	0.374000	0.22700	TGC		PASS	0.433	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		86	120	86	120	---	---	---	---
OR2T33	391195	broad.mit.edu	37	1	248436296	248436296	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:248436296G>T	ENST00000318021.2	-	1	842	c.821C>A	c.(820-822)gCc>gAc	p.A274D		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A274D(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			AGTATAGAAGGCTGACACAAC	0.483																																						uc010pzi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(820-822)GCC>GAC		olfactory receptor, family 2, subfamily T,							151.0	157.0	155.0					1																	248436296		2203	4300	6503	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436296G>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.821C>A	1.37:g.248436296G>T	ENSP00000324687:p.Ala274Asp						p.A274D	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	821	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		274			Helical; Name=7; (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.821C>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	5.794	0.330842	0.10956	.	.	ENSG00000177212	ENST00000318021	T	0.00115	8.71	1.77	-0.339	0.12647	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33075	U	0.005310	T	0.00300	0.0009	M	0.73598	2.24	0.18873	N	0.999984	D	0.54397	0.966	D	0.63488	0.915	T	0.50415	-0.8831	10	0.87932	D	0	.	3.0478	0.06159	0.4852:0.2368:0.278:0.0	.	274	Q8NG76	O2T33_HUMAN	D	274	ENSP00000324687:A274D	ENSP00000324687:A274D	A	-	2	0	OR2T33	246502919	0.030000	0.19436	0.121000	0.21740	0.043000	0.13939	3.080000	0.50112	-0.072000	0.12864	-0.952000	0.02654	GCC		PASS	0.483	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		37	183	37	183	---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685153	248685153	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr1:248685153T>C	ENST00000343414.4	+	1	238	c.206T>C	c.(205-207)gTg>gCg	p.V69A		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V69A(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCTCGTGTGTGGACATCTGC	0.502																																						uc001ien.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(205-207)GTG>GCG		olfactory receptor, family 2, subfamily G,							127.0	109.0	115.0					1																	248685153		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685153T>C		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.206T>C	1.37:g.248685153T>C	ENSP00000341291:p.Val69Ala						p.V69A	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	206	+	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)	all_cancers(173;0.0156)	69			Helical; Name=2; (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.206T>C	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	-	10.86	1.468606	0.26335	.	.	ENSG00000188558	ENST00000343414	T	0.03124	4.04	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.194203	0.24930	U	0.034471	T	0.03783	0.0107	L	0.43757	1.38	0.09310	N	1	B	0.31026	0.304	B	0.27608	0.081	T	0.35251	-0.9796	10	0.87932	D	0	.	6.6289	0.22845	0.0:0.1131:0.0:0.8869	.	69	Q5TZ20	OR2G6_HUMAN	A	69	ENSP00000341291:V69A	ENSP00000341291:V69A	V	+	2	0	OR2G6	246751776	0.000000	0.05858	0.862000	0.33874	0.818000	0.46254	0.108000	0.15396	1.523000	0.49018	0.329000	0.21502	GTG		PASS	0.502	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		5	71	5	71	---	---	---	---
SNTG2	54221	broad.mit.edu	37	2	1204851	1204851	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:1204851C>A	ENST00000308624.5	+	9	783	c.654C>A	c.(652-654)gaC>gaA	p.D218E	SNTG2_ENST00000407292.1_Missense_Mutation_p.D91E|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	218					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.D218E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCTGGCTGGACACCTTGTCCG	0.522																																						uc002qwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(652-654)GAC>GAA		syntrophin, gamma 2							112.0	121.0	118.0					2																	1204851		2029	4182	6211	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1204851C>A	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.654C>A	2.37:g.1204851C>A	ENSP00000311837:p.Asp218Glu					SNTG2_uc010ewi.2_Missense_Mutation_p.D91E	p.D218E	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	9	782	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	218					Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.654C>A	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508953	0.64410	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.57907	0.37;0.37	4.03	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.67477	0.2897	M	0.73319	2.225	0.48901	D	0.999725	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.67894	-0.5552	10	0.42905	T	0.14	.	11.0085	0.47649	0.0:0.9052:0.0:0.0948	.	91;218	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	E	218;91	ENSP00000311837:D218E;ENSP00000385020:D91E	ENSP00000311837:D218E	D	+	3	2	SNTG2	1194851	0.997000	0.39634	0.998000	0.56505	0.674000	0.39518	1.526000	0.35964	1.931000	0.55961	0.453000	0.30009	GAC		PASS	0.522	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		55	106	55	106	---	---	---	---
COLEC11	78989	broad.mit.edu	37	2	3685129	3685129	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:3685129T>C	ENST00000349077.4	+	4	312	c.209T>C	c.(208-210)aTg>aCg	p.M70T	COLEC11_ENST00000403096.3_Missense_Mutation_p.M44T|COLEC11_ENST00000382062.2_Intron|COLEC11_ENST00000402922.1_Intron|COLEC11_ENST00000418971.2_Missense_Mutation_p.M84T|COLEC11_ENST00000402794.1_Missense_Mutation_p.M20T|COLEC11_ENST00000236693.7_Missense_Mutation_p.M67T|COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000487365.1_3'UTR	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	70	Collagen-like.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.M67T(1)|p.M84T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		ACAGGAGACATGGGGGACAAA	0.522																																						uc002qya.2																			2	Substitution - Missense(2)		lung(2)		0						c.(208-210)ATG>ACG		collectin sub-family member 11 isoform a							213.0	171.0	185.0					2																	3685129		2203	4300	6503	SO:0001583	missense	78989					collagen	mannose binding	g.chr2:3685129T>C	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.209T>C	2.37:g.3685129T>C	ENSP00000339168:p.Met70Thr					COLEC11_uc002qxz.2_Missense_Mutation_p.M67T|COLEC11_uc002qyb.2_Missense_Mutation_p.M46T|COLEC11_uc002qyc.2_Intron|COLEC11_uc010ewo.2_Intron|COLEC11_uc010ewp.2_Missense_Mutation_p.M44T|COLEC11_uc010ewq.2_Missense_Mutation_p.M20T|COLEC11_uc010ewr.2_Intron|COLEC11_uc010ews.2_Intron	p.M70T	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	4	357	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		70			Collagen-like.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Missense_Mutation	SNP	ENST00000349077.4	37	c.209T>C	CCDS1649.1	.	.	.	.	.	.	.	.	.	.	T	5.163	0.215594	0.09810	.	.	ENSG00000118004	ENST00000236693;ENST00000349077;ENST00000438814;ENST00000418971;ENST00000403096;ENST00000402794	D;T;D;T;T;D	0.83837	-1.71;-0.55;-1.77;-0.55;-0.55;-1.71	5.43	5.43	0.79202	.	0.530450	0.22183	N	0.063466	T	0.68091	0.2963	N	0.11023	0.085	0.80722	D	1	B;B;B;B;B	0.12630	0.001;0.0;0.001;0.0;0.006	B;B;B;B;B	0.12837	0.001;0.001;0.001;0.003;0.008	T	0.63475	-0.6629	10	0.14252	T	0.57	-2.9921	14.6598	0.68861	0.0:0.0:0.0:1.0	.	20;44;46;70;67	Q9BWP8-6;Q9BWP8-4;Q9BWP8-2;Q9BWP8;Q9BWP8-9	.;.;.;COL11_HUMAN;.	T	67;70;84;84;44;20	ENSP00000236693:M67T;ENSP00000339168:M70T;ENSP00000393167:M84T;ENSP00000411770:M84T;ENSP00000385130:M44T;ENSP00000384882:M20T	ENSP00000236693:M67T	M	+	2	0	COLEC11	3663004	0.999000	0.42202	0.950000	0.38849	0.962000	0.63368	2.717000	0.47227	2.038000	0.60285	0.460000	0.39030	ATG		PASS	0.522	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		4	110	4	110	---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8940553	8940553	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:8940553C>T	ENST00000256707.3	-	9	1058	c.877G>A	c.(877-879)Gct>Act	p.A293T	KIDINS220_ENST00000418530.1_Missense_Mutation_p.A251T|KIDINS220_ENST00000473731.1_Missense_Mutation_p.A293T|KIDINS220_ENST00000319688.5_Missense_Mutation_p.A294T|KIDINS220_ENST00000427284.1_Missense_Mutation_p.A293T	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	293					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.A293T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTATATCAGCATATTTTTGG	0.373																																						uc002qzc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(877-879)GCT>ACT		kinase D-interacting substrate of 220 kDa							177.0	183.0	181.0					2																	8940553		1914	4138	6052	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8940553C>T	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.877G>A	2.37:g.8940553C>T	ENSP00000256707:p.Ala293Thr					KIDINS220_uc010yiv.1_Missense_Mutation_p.A59T|KIDINS220_uc002qzd.2_Missense_Mutation_p.A251T|KIDINS220_uc010yiw.1_Missense_Mutation_p.A294T	p.A293T	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			9	1059	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		293			Cytoplasmic (Potential).|ANK 9.		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.877G>A	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	36	5.651689	0.96714	.	.	ENSG00000134313	ENST00000496383;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42;-1.42;-1.42	5.68	5.68	0.88126	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.91791	0.7403	M	0.88979	2.995	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.997;0.999;1.0	D	0.92436	0.5958	10	0.66056	D	0.02	.	19.7964	0.96487	0.0:1.0:0.0:0.0	.	294;294;251;293	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	T	40;293;293;251;293;294;294	ENSP00000420364:A40T;ENSP00000256707:A293T;ENSP00000411849:A293T;ENSP00000414923:A251T;ENSP00000418974:A293T;ENSP00000419964:A294T;ENSP00000319947:A294T	ENSP00000256707:A293T	A	-	1	0	KIDINS220	8858004	1.000000	0.71417	0.959000	0.39883	0.881000	0.50899	7.440000	0.80464	2.702000	0.92279	0.655000	0.94253	GCT		PASS	0.373	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		89	250	89	250	---	---	---	---
MYCN	4613	broad.mit.edu	37	2	16082189	16082189	+	Start_Codon_SNP	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:16082189G>A	ENST00000281043.3	+	2	300	c.3G>A	c.(1-3)atG>atA	p.M1I	MYCNOS_ENST00000420452.1_RNA|MYCNOS_ENST00000453400.1_RNA|MYCNOS_ENST00000439180.1_RNA|MYCNOS_ENST00000419083.1_RNA|MYCNOS_ENST00000448719.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	1					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M1I(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GCGAGCCGATGCCGAGCTGCT	0.647			A		neuroblastoma																																	uc002rci.2				Dom	yes		2	2p24.1	4613	A	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""			O			neuroblastoma		1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5						c.(1-3)ATG>ATA		v-myc myelocytomatosis viral related oncogene,							41.0	43.0	42.0					2																	16082189		2203	4300	6503	SO:0001582	initiator_codon_variant	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16082189G>A	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.3G>A	2.37:g.16082189G>A	ENSP00000281043:p.Met1Ile					MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_5'UTR	p.M1I	NM_005378	NP_005369	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		2	303	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		1					Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	c.3G>A	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854224	0.71719	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	T	0.80480	-1.38	3.38	2.4	0.29515	.	2.955280	0.01687	U	0.026472	T	0.71467	0.3343	.	.	.	0.09310	N	1	B	0.26809	0.16	B	0.20577	0.03	T	0.61758	-0.6997	9	0.87932	D	0	-4.0423	5.3221	0.15887	0.129:0.2122:0.6588:0.0	.	1	P04198	MYCN_HUMAN	I	1	ENSP00000281043:M1I	ENSP00000281043:M1I	M	+	3	0	MYCN	15999640	0.732000	0.28121	1.000000	0.80357	0.993000	0.82548	3.283000	0.51701	1.604000	0.50143	0.561000	0.74099	ATG		PASS	0.647	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378	Missense_Mutation	20	37	20	37	---	---	---	---
ATRAID	51374	broad.mit.edu	37	2	27440793	27440793	+	IGR	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:27440793C>T	ENST00000606999.1	+	0	956				CAD_ENST00000403525.1_Missense_Mutation_p.S44F|CAD_ENST00000264705.4_Missense_Mutation_p.S44F	NM_001170795.1	NP_001164266.1	Q6UW56	ARAID_HUMAN	all-trans retinoic acid-induced differentiation factor						cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.S44F(1)									ACCGATCCCTCCTACAAGGCA	0.567																																						uc002rji.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(130-132)TCC>TTC		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						123.0	115.0	118.0					2																	27440793		2203	4300	6503	SO:0001628	intergenic_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27440793C>T	BC021237	CCDS1741.1, CCDS46243.1, CCDS62877.1	2p23.3	2012-08-01	2012-07-30	2012-07-30	ENSG00000138085	ENSG00000138085			24090	protein-coding gene	gene with protein product	"""apoptosis-related protein 3"""		"""chromosome 2 open reading frame 28"""	C2orf28		17524364, 21723284	Standard	NM_016085		Approved	HSPC013, p18, APR3	uc002rjf.3	Q6UW56	OTTHUMG00000128405		2.37:g.27440793C>T						CAD_uc010eyw.2_Missense_Mutation_p.S44F	p.S44F	NM_004341	NP_004332	P27708	PYR1_HUMAN			2	293	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		44			GATase (Glutamine amidotransferase).		A8C1S2|A8K779|Q96FF6|Q96RT2|Q9Y2R7|Q9Y5L7	Missense_Mutation	SNP	ENST00000606999.1	37	c.131C>T		.	.	.	.	.	.	.	.	.	.	C	26.8	4.772813	0.90108	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.96716	-4.1;-4.1	5.05	5.05	0.67936	Carbamoyl-phosphate synthase, small subunit, N-terminal (3);	0.126503	0.56097	D	0.000040	D	0.99007	0.9661	H	0.98980	4.39	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.996	D	0.99094	1.0841	10	0.87932	D	0	-1.7048	17.1318	0.86728	0.0:1.0:0.0:0.0	.	44;44	F8VPD4;P27708	.;PYR1_HUMAN	F	44	ENSP00000264705:S44F;ENSP00000384510:S44F	ENSP00000264705:S44F	S	+	2	0	CAD	27294297	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	5.252000	0.65445	2.625000	0.88918	0.484000	0.47621	TCC		PASS	0.567	ATRAID-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470709.1	NM_016085		15	130	15	130	---	---	---	---
GTF3C2	2976	broad.mit.edu	37	2	27560185	27560185	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:27560185C>A	ENST00000359541.2	-	7	1482	c.1053G>T	c.(1051-1053)caG>caT	p.Q351H	AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000585645.1_RNA|AC109828.1_ENST00000585326.1_RNA|AC109828.1_ENST00000608473.1_RNA|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000416453.2_RNA|AC109828.1_ENST00000590383.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.Q351H|AC109828.1_ENST00000590754.1_RNA|AC109828.1_ENST00000592265.1_RNA|AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000589232.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	351					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)		p.Q351H(1)		central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTCTCCTCCTGGGGCAGGT	0.502																																						uc002rjv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1051-1053)CAG>CAT		general transcription factor IIIC, polypeptide							50.0	46.0	47.0					2																	27560185		2203	4300	6503	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27560185C>A	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.1053G>T	2.37:g.27560185C>A	ENSP00000352536:p.Gln351His					GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rju.1_Missense_Mutation_p.Q362H|GTF3C2_uc002rjw.1_Missense_Mutation_p.Q351H|GTF3C2_uc010eyz.1_Missense_Mutation_p.Q351H|uc002rjy.1_RNA	p.Q351H	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN			8	1416	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		351					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.1053G>T	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295082	0.81025	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	T;T	0.73681	-0.77;-0.77	5.8	4.0	0.46444	.	0.198077	0.45126	D	0.000390	T	0.73961	0.3654	L	0.27053	0.805	0.37084	D	0.899127	D;D;D	0.71674	0.998;0.99;0.994	P;P;P	0.62560	0.904;0.804;0.904	T	0.77705	-0.2488	10	0.48119	T	0.1	-14.8537	10.7123	0.45990	0.0:0.8424:0.0:0.1576	.	351;351;351	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	H	351	ENSP00000352536:Q351H;ENSP00000264720:Q351H	ENSP00000264720:Q351H	Q	-	3	2	GTF3C2	27413689	0.994000	0.37717	1.000000	0.80357	0.977000	0.68977	0.732000	0.26072	1.474000	0.48178	0.563000	0.77884	CAG		PASS	0.502	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			9	66	9	66	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32725073	32725073	+	Silent	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:32725073G>A	ENST00000421745.2	+	46	9062	c.8928G>A	c.(8926-8928)tcG>tcA	p.S2976S		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2976					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.S2948S(1)|p.S2976S(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTCAAGGATCGCCTGCATATG	0.438																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(8926-8928)TCG>TCA		baculoviral IAP repeat-containing 6							99.0	105.0	103.0					2																	32725073		2203	4300	6503	SO:0001819	synonymous_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32725073G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.8928G>A	2.37:g.32725073G>A							p.S2976S	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			46	9062	+	Acute lymphoblastic leukemia(172;0.155)		2976					Q9ULD1	Silent	SNP	ENST00000421745.2	37	c.8928G>A	CCDS33175.2																																																																																				PASS	0.438	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		62	124	62	124	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33500091	33500091	+	Missense_Mutation	SNP	G	G	A	rs572890688		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:33500091G>A	ENST00000404816.2	+	17	3156	c.2803G>A	c.(2803-2805)Gag>Aag	p.E935K	LTBP1_ENST00000354476.3_Missense_Mutation_p.E936K|LTBP1_ENST00000402934.1_Missense_Mutation_p.E556K|LTBP1_ENST00000404525.1_Missense_Mutation_p.E556K|LTBP1_ENST00000407925.1_Missense_Mutation_p.E609K|LTBP1_ENST00000390003.4_Missense_Mutation_p.E610K|LTBP1_ENST00000418533.2_Missense_Mutation_p.E609K			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	935	EGF-like 5; 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.E936K(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)				TGAAAACACCGAGGGAAGTTT	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		18689	0.001		0.0	False		,,,				2504	0.0					uc002ros.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(2806-2808)GAG>AAG		latent transforming growth factor beta binding							110.0	105.0	106.0					2																	33500091		2203	4300	6503	SO:0001583	missense	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.chr2:33500091G>A		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.2803G>A	2.37:g.33500091G>A	ENSP00000386043:p.Glu935Lys					LTBP1_uc002rot.2_Missense_Mutation_p.E610K|LTBP1_uc002rou.2_Missense_Mutation_p.E609K|LTBP1_uc002rov.2_Missense_Mutation_p.E556K|LTBP1_uc010ymz.1_Missense_Mutation_p.E609K|LTBP1_uc010yna.1_Missense_Mutation_p.E556K	p.E936K	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			17	2806	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	935			EGF-like 5; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2806G>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	14.31	2.495841	0.44352	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.91996	-2.25;-2.25;-2.95;-2.25;-2.95;-2.95;-2.95	5.77	5.77	0.91146	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.87160	0.6108	L	0.42686	1.345	0.80722	D	1	P;B;B;B;B;B	0.35481	0.504;0.31;0.286;0.304;0.304;0.448	B;B;B;B;B;B	0.31495	0.131;0.015;0.035;0.056;0.034;0.08	D	0.84281	0.0494	9	0.21540	T	0.41	.	13.2183	0.59873	0.0723:0.0:0.9277:0.0	.	935;609;556;609;610;936	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	K	935;936;610;609;556;556;609	ENSP00000386043:E935K;ENSP00000346467:E936K;ENSP00000374653:E610K;ENSP00000393057:E609K;ENSP00000384373:E556K;ENSP00000385359:E556K;ENSP00000384091:E609K	ENSP00000346467:E936K	E	+	1	0	LTBP1	33353595	1.000000	0.71417	0.965000	0.40720	0.955000	0.61496	4.253000	0.58791	2.745000	0.94114	0.650000	0.86243	GAG		PASS	0.428	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		53	81	53	81	---	---	---	---
RASGRP3	25780	broad.mit.edu	37	2	33784046	33784046	+	Silent	SNP	G	G	A	rs370469151		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:33784046G>A	ENST00000403687.3	+	17	2753	c.2013G>A	c.(2011-2013)acG>acA	p.T671T	AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000407811.1_Silent_p.T670T|RASGRP3_ENST00000402538.3_Silent_p.T671T	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	671					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.T671T(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ACCGGGGCACGGAGTTTGAAC	0.498																																						uc002rox.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(1)|pancreas(1)	5						c.(2011-2013)ACG>ACA		RAS guanyl releasing protein 3 (calcium and		G	,,	1,4097		0,1,2048	35.0	37.0	37.0		2013,2010,2013	-11.2	0.0	2		37	0,8386		0,0,4193	no	coding-synonymous,coding-synonymous,coding-synonymous	RASGRP3	NM_001139488.1,NM_015376.2,NM_170672.2	,,	0,1,6241	AA,AG,GG		0.0,0.0244,0.0080	,,	671/691,670/690,671/691	33784046	1,12483	2049	4193	6242	SO:0001819	synonymous_variant	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33784046G>A	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.2013G>A	2.37:g.33784046G>A						RASGRP3_uc010ync.1_Silent_p.T671T|RASGRP3_uc002roy.2_Silent_p.T670T	p.T671T	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN			18	2640	+	all_hematologic(175;0.115)		671					D6W583|O94931|Q53SD7	Silent	SNP	ENST00000403687.3	37	c.2013G>A	CCDS46256.1																																																																																				PASS	0.498	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		4	38	4	38	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37302672	37302672	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:37302672G>C	ENST00000233099.5	-	5	648	c.553C>G	c.(553-555)Ctc>Gtc	p.L185V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.L185V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	185						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.L185V(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TCAGTCAAGAGAGACCTGGCA	0.443																																						uc002rpp.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|breast(1)	8						c.(553-555)CTC>GTC		HEAT repeat containing 5B							165.0	151.0	156.0					2																	37302672		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37302672G>C	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.553C>G	2.37:g.37302672G>C	ENSP00000233099:p.Leu185Val						p.L185V	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			5	649	-		all_hematologic(82;0.21)	185					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.553C>G	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640002	0.29157	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.70631	-0.5;-0.5	4.91	4.02	0.46733	Armadillo-like helical (1);Armadillo-type fold (1);	0.144262	0.47455	D	0.000223	T	0.49287	0.1548	N	0.14661	0.345	0.34090	D	0.660636	B	0.06786	0.001	B	0.08055	0.003	T	0.53865	-0.8378	10	0.20519	T	0.43	-6.3054	9.7969	0.40740	0.0783:0.1417:0.7801:0.0	.	185	Q9P2D3	HTR5B_HUMAN	V	185	ENSP00000233099:L185V;ENSP00000346531:L185V	ENSP00000233099:L185V	L	-	1	0	HEATR5B	37156176	1.000000	0.71417	0.982000	0.44146	0.886000	0.51366	1.333000	0.33816	2.440000	0.82611	0.491000	0.48974	CTC		PASS	0.443	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		63	158	63	158	---	---	---	---
CEBPZ	10153	broad.mit.edu	37	2	37455705	37455705	+	Nonsense_Mutation	SNP	T	T	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:37455705T>A	ENST00000234170.5	-	2	776	c.631A>T	c.(631-633)Aag>Tag	p.K211*		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	211					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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.K211*(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TGATACAGCTTCTGAGCAAGG	0.428																																						uc002rpz.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(631-633)AAG>TAG		CCAAT/enhancer binding protein zeta							135.0	139.0	138.0					2																	37455705		2203	4300	6503	SO:0001587	stop_gained	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37455705T>A	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.631A>T	2.37:g.37455705T>A	ENSP00000234170:p.Lys211*						p.K211*	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN			2	661	-		all_hematologic(82;0.21)	211					Q8NE75	Nonsense_Mutation	SNP	ENST00000234170.5	37	c.631A>T	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.803766	0.90623	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	.	.	.	5.66	4.44	0.53790	.	0.226582	0.44902	D	0.000418	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4635	0.55745	0.0:0.0:0.1396:0.8604	.	.	.	.	X	211	.	ENSP00000234170:K211X	K	-	1	0	CEBPZ	37309209	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.797000	0.55514	2.154000	0.67381	0.533000	0.62120	AAG		PASS	0.428	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		57	96	57	96	---	---	---	---
PKDCC	91461	broad.mit.edu	37	2	42284382	42284382	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:42284382G>T	ENST00000294964.5	+	6	1424	c.1244G>T	c.(1243-1245)aGc>aTc	p.S415I	PKDCC_ENST00000480099.1_Intron	NM_138370.2	NP_612379.2			protein kinase domain containing, cytoplasmic									p.S272I(1)|p.S415I(1)		breast(2)|kidney(1)|lung(5)	8						ATCCCAGACAGCACCATCCCC	0.537																																						uc002rsg.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1243-1245)AGC>ATC		protein kinase-like protein SgK493							116.0	113.0	114.0					2																	42284382		2203	4300	6503	SO:0001583	missense	91461				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity	g.chr2:42284382G>T		CCDS33186.2	2p21	2014-01-28	2012-12-07		ENSG00000162878	ENSG00000162878			25123	protein-coding gene	gene with protein product	"""vertebrate lonesome kinase"""	614150	"""protein kinase domain containing, cytoplasmic homolog (mouse)"""			19097194, 19465597	Standard	NM_138370		Approved	SgK493, Vlk	uc002rsg.3	Q504Y2	OTTHUMG00000152303	ENST00000294964.5:c.1244G>T	2.37:g.42284382G>T	ENSP00000294964:p.Ser415Ile						p.S415I	NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN			6	1423	+			415			Protein kinase.			Missense_Mutation	SNP	ENST00000294964.5	37	c.1244G>T	CCDS33186.2	.	.	.	.	.	.	.	.	.	.	G	5.408	0.260414	0.10239	.	.	ENSG00000162878	ENST00000294964	.	.	.	5.18	3.33	0.38152	Protein kinase, catalytic domain (1);	0.383721	0.31210	N	0.008048	T	0.37919	0.1021	L	0.38175	1.15	0.33148	D	0.545256	B	0.27068	0.167	B	0.19148	0.024	T	0.49011	-0.8983	9	0.42905	T	0.14	-11.2979	8.5307	0.33333	0.0959:0.1934:0.7108:0.0	.	415	Q504Y2	PKDCC_HUMAN	I	415	.	ENSP00000294964:S415I	S	+	2	0	PKDCC	42137886	0.275000	0.24201	0.925000	0.36789	0.199000	0.23934	1.642000	0.37207	1.189000	0.43028	-0.140000	0.14226	AGC		PASS	0.537	PKDCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325745.3			58	114	58	114	---	---	---	---
LHCGR	3973	broad.mit.edu	37	2	48915920	48915920	+	Missense_Mutation	SNP	T	T	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:48915920T>A	ENST00000294954.7	-	11	1037	c.1016A>T	c.(1015-1017)aAg>aTg	p.K339M	LHCGR_ENST00000403273.1_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.K312M|LHCGR_ENST00000344775.3_Missense_Mutation_p.K277M|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	339					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.K339M(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TCGGGGTGTCTTGGGTAAGCA	0.428																																						uc002rwu.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(1)	8						c.(1015-1017)AAG>ATG		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						127.0	125.0	126.0					2																	48915920		2203	4300	6503	SO:0001583	missense	3973	Familial_Male-Limited_Precocious_Puberty			male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915920T>A		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1016A>T	2.37:g.48915920T>A	ENSP00000294954:p.Lys339Met					GTF2A1L_uc002rwt.2_Intron	p.K339M	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1086	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	339			Extracellular (Potential).		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.1016A>T	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.074220	0.55646	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.77750	-1.12;-0.91;-0.96	5.91	3.58	0.41010	.	0.308810	0.40554	N	0.001069	D	0.86197	0.5875	M	0.80616	2.505	0.42137	D	0.991497	D	0.89917	1.0	D	0.87578	0.998	D	0.85815	0.1382	9	.	.	.	.	9.0434	0.36331	0.0:0.1473:0.0:0.8527	.	339	P22888	LSHR_HUMAN	M	277;339;312	ENSP00000344301:K277M;ENSP00000294954:K339M;ENSP00000386033:K312M	.	K	-	2	0	LHCGR	48769424	0.994000	0.37717	1.000000	0.80357	0.964000	0.63967	2.232000	0.43018	1.062000	0.40625	0.533000	0.62120	AAG		PASS	0.428	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		37	170	37	170	---	---	---	---
DOK1	1796	broad.mit.edu	37	2	74783971	74783971	+	Silent	SNP	G	G	T	rs139633219		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:74783971G>T	ENST00000233668.5	+	5	1845	c.1176G>T	c.(1174-1176)cgG>cgT	p.R392R	DOK1_ENST00000340004.6_3'UTR|LOXL3_ENST00000393937.2_5'Flank|LOXL3_ENST00000264094.3_5'Flank|DOK1_ENST00000409429.1_Silent_p.R253R|LOXL3_ENST00000409986.1_5'Flank|M1AP_ENST00000464686.1_5'Flank|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	392	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)	p.R392R(1)		endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCCAAGCTCGGGTGAAGGAGG	0.622													g|||	1	0.000199681	0.0008	0.0	5008	,	,		17551	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(36;520 860 12502 33616 51270)	uc002sms.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1174-1176)CGG>CGT		docking protein 1		G	,	2,4404	4.2+/-10.8	0,2,2201	86.0	88.0	88.0		759,1176	1.2	1.0	2	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DOK1	NM_001197260.1,NM_001381.3	,	0,2,6501	TT,TG,GG		0.0,0.0454,0.0154	,	253/343,392/482	74783971	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1796				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding	g.chr2:74783971G>T	U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"""docking protein 1, 62kD (downstream of tyrosine kinase 1)"""			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.1176G>T	2.37:g.74783971G>T						LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.2_Silent_p.R253R|DOK1_uc010ffo.2_Silent_p.R253R|DOK1_uc002smt.2_Silent_p.R178R|DOK1_uc002smu.2_Silent_p.R178R|DOK1_uc010yrz.1_Silent_p.R381R|DOK1_uc002smv.2_Silent_p.R253R|DOK1_uc002smw.1_Silent_p.R178R	p.R392R	NM_001381	NP_001372	Q99704	DOK1_HUMAN			5	1198	+			392			Pro-rich.		O43204|Q53TY2|Q9UHG6	Silent	SNP	ENST00000233668.5	37	c.1176G>T	CCDS1954.1																																																																																				PASS	0.622	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252218.3	NM_001381		65	112	65	112	---	---	---	---
REG1B	5968	broad.mit.edu	37	2	79313498	79313498	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:79313498T>C	ENST00000305089.3	-	4	396	c.316A>G	c.(316-318)Aaa>Gaa	p.K106E		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	106	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)	p.K106E(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CTGACCTTTTTTGGGTCATGG	0.493																																						uc002sny.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(316-318)AAA>GAA		regenerating islet-derived 1 beta precursor							96.0	87.0	90.0					2																	79313498		2203	4300	6503	SO:0001583	missense	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79313498T>C		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.316A>G	2.37:g.79313498T>C	ENSP00000303206:p.Lys106Glu					REG1B_uc010ffv.1_Missense_Mutation_p.K106E|REG1B_uc010ffw.2_3'UTR	p.K106E	NM_006507	NP_006498	P48304	REG1B_HUMAN			4	428	-			106			C-type lectin.			Missense_Mutation	SNP	ENST00000305089.3	37	c.316A>G	CCDS1963.1	.	.	.	.	.	.	.	.	.	.	t	7.067	0.567589	0.13560	.	.	ENSG00000172023	ENST00000454188;ENST00000305089	T;T	0.19532	2.14;2.14	3.51	2.33	0.28932	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.782790	0.10540	N	0.662814	T	0.11196	0.0273	L	0.28115	0.83	0.19945	N	0.999941	B;B	0.10296	0.003;0.003	B;B	0.12837	0.008;0.008	T	0.40117	-0.9580	10	0.02654	T	1	.	5.4658	0.16642	0.0:0.1346:0.0:0.8654	.	106;106	Q6ICS1;P48304	.;REG1B_HUMAN	E	57;106	ENSP00000387410:K57E;ENSP00000303206:K106E	ENSP00000303206:K106E	K	-	1	0	REG1B	79167006	0.184000	0.23200	0.001000	0.08648	0.029000	0.11900	0.414000	0.21164	0.533000	0.28675	0.402000	0.26972	AAA		PASS	0.493	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		31	55	31	55	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80136890	80136890	+	Silent	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:80136890G>C	ENST00000402739.4	+	6	1028	c.1023G>C	c.(1021-1023)gcG>gcC	p.A341A	CTNNA2_ENST00000496558.1_Silent_p.A341A|CTNNA2_ENST00000466387.1_Silent_p.A341A|CTNNA2_ENST00000541047.1_Silent_p.A341A|CTNNA2_ENST00000361291.4_Silent_p.A375A|CTNNA2_ENST00000540488.1_Silent_p.A341A	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	341					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.A341A(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGCGGCAGGCGCTCCAGGACC	0.582																																						uc010ysh.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1021-1023)GCG>GCC		catenin, alpha 2 isoform 1							40.0	46.0	44.0					2																	80136890		2074	4217	6291	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80136890G>C		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1023G>C	2.37:g.80136890G>C						CTNNA2_uc010yse.1_Silent_p.A341A|CTNNA2_uc010ysf.1_Silent_p.A341A|CTNNA2_uc010ysg.1_Silent_p.A341A	p.A341A	NM_004389	NP_004380	P26232	CTNA2_HUMAN			6	1028	+			341					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.1023G>C																																																																																					PASS	0.582	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		23	46	23	46	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80782831	80782831	+	Silent	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:80782831G>A	ENST00000402739.4	+	11	1559	c.1554G>A	c.(1552-1554)ttG>ttA	p.L518L	CTNNA2_ENST00000496558.1_Silent_p.L518L|CTNNA2_ENST00000466387.1_Silent_p.L518L|CTNNA2_ENST00000541047.1_Silent_p.L518L|CTNNA2_ENST00000361291.4_Silent_p.L552L|CTNNA2_ENST00000343114.3_Silent_p.L197L|CTNNA2_ENST00000540488.1_Silent_p.L518L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	518					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.E519E(1)|p.L518L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ATCACATCTTGGAGGATGTGA	0.473																																						uc010ysh.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1552-1554)TTG>TTA		catenin, alpha 2 isoform 1							64.0	64.0	64.0					2																	80782831		1881	4109	5990	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80782831G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1554G>A	2.37:g.80782831G>A						CTNNA2_uc010yse.1_Silent_p.L518L|CTNNA2_uc010ysf.1_Silent_p.L518L|CTNNA2_uc010ysg.1_Silent_p.L518L|CTNNA2_uc010ysi.1_Silent_p.L150L	p.L518L	NM_004389	NP_004380	P26232	CTNA2_HUMAN			11	1559	+			518					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.1554G>A																																																																																					PASS	0.473	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		21	54	21	54	---	---	---	---
MRPS5	64969	broad.mit.edu	37	2	95770424	95770424	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:95770424G>A	ENST00000272418.2	-	7	932	c.724C>T	c.(724-726)Cgt>Tgt	p.R242C		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	242	S5 DRBM. {ECO:0000255|PROSITE- ProRule:PRU00268}.				translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R242C(2)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						ACCAAGACACGGATCGATTTC	0.483																																						uc002sub.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)|central_nervous_system(1)	3						c.(724-726)CGT>TGT		mitochondrial ribosomal protein S5							181.0	155.0	164.0					2																	95770424		2203	4300	6503	SO:0001583	missense	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95770424G>A	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.724C>T	2.37:g.95770424G>A	ENSP00000272418:p.Arg242Cys					MRPS5_uc002suc.2_Intron|MRPS5_uc010yud.1_Missense_Mutation_p.R242C	p.R242C	NM_031902	NP_114108	P82675	RT05_HUMAN			7	942	-			242			S5 DRBM.		Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	c.724C>T	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119346	0.56505	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.09	5.09	0.68999	Ribosomal protein S5, N-terminal, conserved site (1);Ribosomal protein S5, N-terminal (2);Double-stranded RNA-binding-like (1);	0.043472	0.85682	D	0.000000	T	0.80177	0.4575	M	0.88842	2.985	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.959	T	0.82916	-0.0220	9	0.62326	D	0.03	-8.4749	11.4446	0.50116	0.0:0.0:0.8199:0.1801	.	242;242	B4DIW8;P82675	.;RT05_HUMAN	C	242	.	ENSP00000272418:R242C	R	-	1	0	MRPS5	95134151	1.000000	0.71417	0.917000	0.36280	0.361000	0.29550	4.588000	0.60999	2.530000	0.85305	0.491000	0.48974	CGT		PASS	0.483	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		31	96	31	96	---	---	---	---
IL18R1	8809	broad.mit.edu	37	2	102984394	102984394	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:102984394G>T	ENST00000409599.1	+	4	524	c.168G>T	c.(166-168)tgG>tgT	p.W56C	IL18R1_ENST00000334376.3_Missense_Mutation_p.W56C|IL18R1_ENST00000233957.1_Missense_Mutation_p.W56C			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	56	Ig-like C2-type 1.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)	p.W56C(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CCAAAAGCTGGTACAAAAGCA	0.453																																						uc002tbw.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(166-168)TGG>TGT		interleukin 18 receptor 1 precursor							146.0	136.0	140.0					2																	102984394		2203	4300	6503	SO:0001583	missense	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:102984394G>T	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.168G>T	2.37:g.102984394G>T	ENSP00000387211:p.Trp56Cys					IL18R1_uc010ywb.1_Missense_Mutation_p.W56C|IL18R1_uc010ywc.1_Missense_Mutation_p.W56C|IL18R1_uc010ywd.1_Intron|IL18R1_uc010fiy.2_Missense_Mutation_p.W56C	p.W56C	NM_003855	NP_003846	Q13478	IL18R_HUMAN			3	318	+			56			Ig-like C2-type 1.|Extracellular (Potential).		B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	c.168G>T	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669307	0.29604	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957;ENST00000334376	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	5.23	3.35	0.38373	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.206496	0.35466	N	0.003198	D	0.91700	0.7376	M	0.64404	1.975	0.27826	N	0.941622	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.74023	0.936;0.982;0.936	D	0.84812	0.0791	10	0.87932	D	0	.	7.9703	0.30124	0.0933:0.1803:0.7264:0.0	.	56;56;56	B7ZKV7;Q86YL8;Q13478	.;.;IL18R_HUMAN	C	56	ENSP00000386663:W56C;ENSP00000387211:W56C;ENSP00000233957:W56C;ENSP00000334030:W56C	ENSP00000233957:W56C	W	+	3	0	IL18R1	102350826	0.979000	0.34478	0.268000	0.24571	0.006000	0.05464	1.463000	0.35277	1.269000	0.44280	0.563000	0.77884	TGG		PASS	0.453	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		25	42	25	42	---	---	---	---
SLC20A1	6574	broad.mit.edu	37	2	113405296	113405296	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:113405296G>A	ENST00000272542.3	+	4	1081	c.542G>A	c.(541-543)cGt>cAt	p.R181H	AC079922.3_ENST00000457336.1_lincRNA	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	181					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)	p.R181H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TTCCTGGTTCGTGCATTCATC	0.413																																						uc002tib.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(541-543)CGT>CAT		solute carrier family 20 (phosphate							215.0	215.0	215.0					2																	113405296		2203	4300	6503	SO:0001583	missense	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113405296G>A		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.542G>A	2.37:g.113405296G>A	ENSP00000272542:p.Arg181His					uc010fkq.1_5'Flank	p.R181H	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN			4	988	+			181			Cytoplasmic (Potential).		Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	c.542G>A	CCDS2099.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.422395|4.422395	0.83559|0.83559	.|.	.|.	ENSG00000144136|ENSG00000144136	ENST00000272542|ENST00000423633	D|.	0.90955|.	-2.76|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.096084|.	0.64402|.	D|.	0.000001|.	T|T	0.77705|0.77705	0.4170|0.4170	M|M	0.79805|0.79805	2.47|2.47	0.80722|0.80722	D|D	1|1	D|.	0.63880|.	0.993|.	P|.	0.61940|.	0.896|.	T|T	0.78507|0.78507	-0.2177|-0.2177	10|5	0.87932|.	D|.	0|.	-14.0505|-14.0505	16.7934|16.7934	0.85595|0.85595	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	181|.	Q8WUM9|.	S20A1_HUMAN|.	H|M	181|29	ENSP00000272542:R181H|.	ENSP00000272542:R181H|.	R|V	+|+	2|1	0|0	SLC20A1|SLC20A1	113121767|113121767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.256000|0.256000	0.26092|0.26092	7.800000|7.800000	0.85949|0.85949	2.555000|2.555000	0.86185|0.86185	0.655000|0.655000	0.94253|0.94253	CGT|GTG		PASS	0.413	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		65	246	65	246	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125261973	125261973	+	Silent	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:125261973G>A	ENST00000431078.1	+	8	1528	c.1164G>A	c.(1162-1164)ggG>ggA	p.G388G		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	388	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.G388G(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AAATTGATGGGCTCTCAGTGA	0.547																																						uc002tno.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)	10						c.(1162-1164)GGG>GGA		contactin associated protein-like 5 precursor							76.0	73.0	74.0					2																	125261973		1882	4120	6002	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125261973G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1164G>A	2.37:g.125261973G>A						CNTNAP5_uc010flu.2_Silent_p.G389G	p.G388G	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	8	1528	+			388			Laminin G-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.1164G>A	CCDS46401.1																																																																																				PASS	0.547	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			36	61	36	61	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136552233	136552233	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:136552233T>C	ENST00000264162.2	-	14	5099	c.5089A>G	c.(5089-5091)Atc>Gtc	p.I1697V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1697	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.I1697V(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AAAGAAGAGATGGCAGTGGCA	0.517																																						uc002tuu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(5089-5091)ATC>GTC		lactase-phlorizin hydrolase preproprotein							200.0	173.0	182.0					2																	136552233		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136552233T>C	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.5089A>G	2.37:g.136552233T>C	ENSP00000264162:p.Ile1697Val						p.I1697V	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	14	5100	-			1697			Extracellular (Potential).|4.|4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.5089A>G	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	T	9.803	1.181112	0.21787	.	.	ENSG00000115850	ENST00000264162	T	0.32272	1.46	5.76	-4.15	0.03881	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.349077	0.33691	N	0.004657	T	0.09202	0.0227	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.11421	-1.0588	10	0.23891	T	0.37	-6.7945	1.1757	0.01835	0.1883:0.3154:0.1927:0.3035	.	1697	P09848	LPH_HUMAN	V	1697	ENSP00000264162:I1697V	ENSP00000264162:I1697V	I	-	1	0	LCT	136268703	0.000000	0.05858	0.002000	0.10522	0.537000	0.34900	-0.214000	0.09292	-0.540000	0.06265	0.528000	0.53228	ATC		PASS	0.517	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		37	72	37	72	---	---	---	---
GALNT13	114805	broad.mit.edu	37	2	155099274	155099274	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:155099274G>T	ENST00000392825.3	+	6	1109	c.542G>T	c.(541-543)aGg>aTg	p.R181M	GALNT13_ENST00000409237.1_Missense_Mutation_p.R181M	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	181	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R181M(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAAATTATTAGGATGGAAGAA	0.368																																						uc002tyr.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(541-543)AGG>ATG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							46.0	48.0	48.0					2																	155099274		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155099274G>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.542G>T	2.37:g.155099274G>T	ENSP00000376570:p.Arg181Met					GALNT13_uc002tyt.3_Missense_Mutation_p.R181M|GALNT13_uc010foc.1_Translation_Start_Site	p.R181M	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			6	1109	+			181			Lumenal (Potential).|Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.542G>T	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006951	0.93287	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.65916	-0.18;-0.18	5.63	5.63	0.86233	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.89090	0.6616	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.987	D	0.93618	0.6945	10	0.87932	D	0	.	18.665	0.91486	0.0:0.0:1.0:0.0	.	181;181	Q08ER7;Q8IUC8	.;GLT13_HUMAN	M	181	ENSP00000376570:R181M;ENSP00000387239:R181M	ENSP00000376570:R181M	R	+	2	0	GALNT13	154807520	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.665000	0.90641	0.591000	0.81541	AGG		PASS	0.368	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		14	26	14	26	---	---	---	---
PDE11A	50940	broad.mit.edu	37	2	178565854	178565854	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:178565854T>C	ENST00000286063.6	-	14	2556	c.2239A>G	c.(2239-2241)Agt>Ggt	p.S747G	PDE11A_ENST00000358450.4_Missense_Mutation_p.S497G|AC012499.1_ENST00000450227.1_RNA|AC012499.1_ENST00000412133.1_RNA|PDE11A_ENST00000449286.2_Missense_Mutation_p.S389G|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.S389G|PDE11A_ENST00000389683.3_Missense_Mutation_p.S303G	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	747	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.S497G(1)|p.S747G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TGTACCTCACTTTGAAGGATC	0.502									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)	4						c.(2239-2241)AGT>GGT		phosphodiesterase 11A isoform 4							135.0	114.0	121.0					2																	178565854		2203	4300	6503	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178565854T>C	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2239A>G	2.37:g.178565854T>C	ENSP00000286063:p.Ser747Gly					PDE11A_uc002ulp.2_Missense_Mutation_p.S303G|PDE11A_uc002ulr.2_Missense_Mutation_p.S497G|PDE11A_uc002uls.1_Missense_Mutation_p.S389G|PDE11A_uc002ult.1_Missense_Mutation_p.S497G|PDE11A_uc002ulu.1_Missense_Mutation_p.S389G	p.S747G	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		14	2557	-			747			Catalytic (By similarity).		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.2239A>G	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.345993	0.61073	.	.	ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46	5.44	5.44	0.79542	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.085133	0.85682	D	0.000000	D	0.87581	0.6213	M	0.67569	2.06	0.80722	D	1	D;D	0.60575	0.988;0.984	P;D	0.63113	0.829;0.911	D	0.89028	0.3440	10	0.87932	D	0	.	15.5016	0.75703	0.0:0.0:0.0:1.0	.	497;747	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	G	747;497;389;303;389	ENSP00000286063:S747G;ENSP00000351232:S497G;ENSP00000386539:S389G;ENSP00000374333:S303G;ENSP00000390599:S389G	ENSP00000286063:S747G	S	-	1	0	PDE11A	178274100	1.000000	0.71417	0.978000	0.43139	0.172000	0.22775	7.646000	0.83445	2.047000	0.60756	0.454000	0.30748	AGT		PASS	0.502	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			27	76	27	76	---	---	---	---
PDE11A	50940	broad.mit.edu	37	2	178565890	178565890	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:178565890G>T	ENST00000286063.6	-	14	2520	c.2203C>A	c.(2203-2205)Cat>Aat	p.H735N	PDE11A_ENST00000358450.4_Missense_Mutation_p.H485N|AC012499.1_ENST00000450227.1_RNA|AC012499.1_ENST00000412133.1_RNA|PDE11A_ENST00000449286.2_Missense_Mutation_p.H377N|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.H377N|PDE11A_ENST00000389683.3_Missense_Mutation_p.H291N	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	735	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.H485N(1)|p.H735N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	AAATGGTGATGCTCCAAGGTA	0.522									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)	4						c.(2203-2205)CAT>AAT		phosphodiesterase 11A isoform 4							141.0	117.0	125.0					2																	178565890		2203	4300	6503	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178565890G>T	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2203C>A	2.37:g.178565890G>T	ENSP00000286063:p.His735Asn					PDE11A_uc002ulp.2_Missense_Mutation_p.H291N|PDE11A_uc002ulr.2_Missense_Mutation_p.H485N|PDE11A_uc002uls.1_Missense_Mutation_p.H377N|PDE11A_uc002ult.1_Missense_Mutation_p.H485N|PDE11A_uc002ulu.1_Missense_Mutation_p.H377N	p.H735N	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		14	2521	-			735			Catalytic (By similarity).		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.2203C>A	CCDS33334.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.876529|4.876529	0.91664|0.91664	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286|ENST00000433879	T;T;T;T;T|.	0.78003|.	-1.14;-1.14;-1.14;-1.14;-1.14|.	5.7|5.7	5.7|5.7	0.88788|0.88788	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56731|0.56731	0.2005|0.2005	N|N	0.25144|0.25144	0.715|0.715	0.80722|0.80722	D|D	1|1	B;P|.	0.45126|.	0.347;0.851|.	B;P|.	0.46917|.	0.12;0.531|.	T|T	0.50074|0.50074	-0.8870|-0.8870	10|5	0.87932|.	D|.	0|.	.|.	19.8452|19.8452	0.96705|0.96705	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	485;735|.	Q9HCR9-2;Q9HCR9|.	.;PDE11_HUMAN|.	N|R	735;485;377;291;377|342	ENSP00000286063:H735N;ENSP00000351232:H485N;ENSP00000386539:H377N;ENSP00000374333:H291N;ENSP00000390599:H377N|.	ENSP00000286063:H735N|.	H|S	-|-	1|3	0|2	PDE11A|PDE11A	178274136|178274136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	9.410000|9.410000	0.97335|0.97335	2.679000|2.679000	0.91253|0.91253	0.555000|0.555000	0.69702|0.69702	CAT|AGC		PASS	0.522	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			25	76	25	76	---	---	---	---
OSBPL6	114880	broad.mit.edu	37	2	179196319	179196319	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:179196319A>G	ENST00000190611.4	+	6	735	c.359A>G	c.(358-360)aAg>aGg	p.K120R	OSBPL6_ENST00000409045.3_Missense_Mutation_p.K120R|OSBPL6_ENST00000409631.1_Missense_Mutation_p.K120R|OSBPL6_ENST00000315022.2_Missense_Mutation_p.K99R|OSBPL6_ENST00000392505.2_Missense_Mutation_p.K120R|OSBPL6_ENST00000357080.4_Missense_Mutation_p.K120R|OSBPL6_ENST00000359685.3_Missense_Mutation_p.K120R|OSBPL6_ENST00000477097.1_3'UTR	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	120	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.K120R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AAGTATTCAAAGGCACCACTC	0.383																																						uc002ulx.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(358-360)AAG>AGG		oxysterol-binding protein-like protein 6 isoform							226.0	226.0	226.0					2																	179196319		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179196319A>G	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.359A>G	2.37:g.179196319A>G	ENSP00000190611:p.Lys120Arg					OSBPL6_uc002ulw.2_Missense_Mutation_p.K120R|OSBPL6_uc002uly.2_Missense_Mutation_p.K120R|OSBPL6_uc010zfe.1_Missense_Mutation_p.K120R|OSBPL6_uc002ulz.2_Missense_Mutation_p.K120R|OSBPL6_uc002uma.2_Missense_Mutation_p.K99R	p.K120R	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		6	737	+			120			PH.		B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.359A>G	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.539207	0.85917	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.15952	2.53;2.52;2.38;2.52;2.53;2.52;2.53	5.58	5.58	0.84498	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	L	0.50919	1.6	0.80722	D	1	P;P;D;D;D;D	0.76494	0.914;0.946;0.996;0.999;0.997;0.998	P;P;D;D;D;D	0.83275	0.781;0.881;0.987;0.996;0.98;0.991	T	0.02444	-1.1158	10	0.31617	T	0.26	-18.2212	15.7466	0.77949	1.0:0.0:0.0:0.0	.	120;99;120;120;120;120	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	R	120;120;120;120;120;120;99	ENSP00000376293:K120R;ENSP00000352713:K120R;ENSP00000349591:K120R;ENSP00000387248:K120R;ENSP00000190611:K120R;ENSP00000386885:K120R;ENSP00000318723:K99R	ENSP00000190611:K120R	K	+	2	0	OSBPL6	178904565	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.395000	0.79876	2.110000	0.64415	0.533000	0.62120	AAG		PASS	0.383	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		26	102	26	102	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179410595	179410595	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:179410595G>T	ENST00000591111.1	-	293	90669	c.90445C>A	c.(90445-90447)Cct>Act	p.P30149T	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P29222T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P22850T|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P22917T|TTN_ENST00000460472.2_Missense_Mutation_p.P22725T|TTN_ENST00000589042.1_Missense_Mutation_p.P31790T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30149	Fibronectin type-III 119. {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.P22917T(1)|p.P29220T(1)|p.P29222T(1)|p.P22725T(1)|p.P22850T(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)			GGCACACCAGGGCCATATTTG	0.398																																						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.(87664-87666)CCT>ACT		titin isoform N2-A							148.0	140.0	142.0					2																	179410595		1934	4148	6082	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179410595G>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.90445C>A	2.37:g.179410595G>T	ENSP00000465570:p.Pro30149Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P22917T|TTN_uc010zfi.1_Missense_Mutation_p.P22850T|TTN_uc010zfj.1_Missense_Mutation_p.P22725T	p.P29222T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		292	87888	-			30149					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.87664C>A		.	.	.	.	.	.	.	.	.	.	G	16.06	3.014840	0.54468	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.82	5.82	0.92795	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47911	0.1471	N	0.17901	0.54	0.58432	D	0.999996	P;P;P;P	0.45672	0.638;0.638;0.864;0.638	P;P;P;P	0.49421	0.61;0.61;0.61;0.61	T	0.51012	-0.8759	9	0.87932	D	0	.	20.1086	0.97902	0.0:0.0:1.0:0.0	.	22725;22850;22917;30149	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	29222;22725;22917;22850;22722	ENSP00000343764:P29222T;ENSP00000434586:P22725T;ENSP00000340554:P22917T;ENSP00000352154:P22850T	ENSP00000340554:P22917T	P	-	1	0	TTN	179118841	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.570000	0.60872	2.756000	0.94617	0.563000	0.77884	CCT		PASS	0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	138	34	138	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179453963	179453963	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:179453963G>T	ENST00000591111.1	-	254	57790	c.57566C>A	c.(57565-57567)tCt>tAt	p.S19189Y	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S18262Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S11890Y|TTN_ENST00000342175.6_Missense_Mutation_p.S11957Y|TTN_ENST00000460472.2_Missense_Mutation_p.S11765Y|TTN_ENST00000589042.1_Missense_Mutation_p.S20830Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19189	Ig-like 108.				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.S18262Y(1)|p.S11957Y(1)|p.S11890Y(1)|p.S18260Y(1)|p.S11765Y(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)			TTTAGTAAGAGAAAATTTAGA	0.433																																						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.(54784-54786)TCT>TAT		titin isoform N2-A							128.0	127.0	127.0					2																	179453963		1885	4119	6004	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179453963G>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.57566C>A	2.37:g.179453963G>T	ENSP00000465570:p.Ser19189Tyr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S11957Y|TTN_uc010zfi.1_Missense_Mutation_p.S11890Y|TTN_uc010zfj.1_Missense_Mutation_p.S11765Y	p.S18262Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		253	55009	-			19189					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.54785C>A		.	.	.	.	.	.	.	.	.	.	G	10.83	1.462085	0.26248	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	6.02	5.09	0.68999	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56978	0.2022	L	0.33093	0.98	0.27079	N	0.963137	P;P;P;P	0.37612	0.602;0.602;0.602;0.602	B;B;B;B	0.42163	0.378;0.378;0.378;0.273	T	0.55823	-0.8080	9	0.87932	D	0	.	4.6764	0.12713	0.1736:0.2024:0.624:0.0	.	11765;11890;11957;19189	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	18262;11765;11957;11890;11763	ENSP00000343764:S18262Y;ENSP00000434586:S11765Y;ENSP00000340554:S11957Y;ENSP00000352154:S11890Y	ENSP00000340554:S11957Y	S	-	2	0	TTN	179162209	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	5.370000	0.66144	2.857000	0.98124	0.650000	0.86243	TCT		PASS	0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		35	153	35	153	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179643974	179643974	+	Silent	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:179643974A>T	ENST00000591111.1	-	23	4169	c.3945T>A	c.(3943-3945)tcT>tcA	p.S1315S	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Silent_p.S1315S|TTN_ENST00000342992.6_Silent_p.S1315S|TTN_ENST00000359218.5_Silent_p.S1269S|TTN_ENST00000342175.6_Silent_p.S1269S|TTN_ENST00000460472.2_Silent_p.S1269S|TTN_ENST00000589042.1_Silent_p.S1315S			Q8WZ42	TITIN_HUMAN	titin	33512	Ig-like 5.				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.S1315S(3)|p.S1269S(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGATATCCAGACATCTTGC	0.308																																						uc010zfg.1																			6	Substitution - coding silent(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(3943-3945)TCT>TCA		titin isoform N2-A							49.0	53.0	51.0					2																	179643974		2203	4299	6502	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179643974A>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.3945T>A	2.37:g.179643974A>T						TTN_uc010zfh.1_Silent_p.S1269S|TTN_uc010zfi.1_Silent_p.S1269S|TTN_uc010zfj.1_Silent_p.S1269S|TTN_uc002unb.2_Silent_p.S1315S|uc002unc.1_Intron	p.S1315S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		23	4169	-			1315					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.3945T>A																																																																																					PASS	0.308	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	61	12	61	---	---	---	---
ALS2	57679	broad.mit.edu	37	2	202593831	202593831	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:202593831T>C	ENST00000264276.6	-	14	3028	c.2656A>G	c.(2656-2658)Agg>Ggg	p.R886G	ALS2_ENST00000457679.2_Missense_Mutation_p.R198G	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	886					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.R886G(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GCTTCCTTCCTTTTCCTGCCG	0.458																																						uc002uyo.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|lung(1)|breast(1)	7						c.(2656-2658)AGG>GGG		alsin isoform 1							132.0	124.0	127.0					2																	202593831		1853	4101	5954	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202593831T>C	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.2656A>G	2.37:g.202593831T>C	ENSP00000264276:p.Arg886Gly					ALS2_uc002uyp.3_Missense_Mutation_p.R886G|ALS2_uc010ftl.2_RNA	p.R886G	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN			14	3012	-			886					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.2656A>G	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.639572	0.87760	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	T;T	0.78707	0.31;-1.2	5.79	5.79	0.91817	Dbl homology (DH) domain (2);	0.042714	0.85682	D	0.000000	T	0.78978	0.4369	L	0.54323	1.7	0.58432	D	0.999999	P;B	0.48911	0.917;0.415	P;B	0.46850	0.529;0.184	T	0.81245	-0.1020	10	0.62326	D	0.03	.	16.1444	0.81555	0.0:0.0:0.0:1.0	.	886;886	Q6IQ41;Q96Q42	.;ALS2_HUMAN	G	886;198	ENSP00000264276:R886G;ENSP00000394823:R198G	ENSP00000264276:R886G	R	-	1	2	ALS2	202302076	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.681000	0.84073	2.223000	0.72356	0.455000	0.32223	AGG		PASS	0.458	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		4	165	4	165	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207174722	207174722	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:207174722C>T	ENST00000374423.3	+	5	5856	c.5470C>T	c.(5470-5472)Cct>Tct	p.P1824S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1824							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P1824S(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GCCTCATGTACCTCCTTCATT	0.413																																						uc002vbp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(5470-5472)CCT>TCT		zinc finger, DBF-type containing 2							84.0	83.0	83.0					2																	207174722		1887	4117	6004	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207174722C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5470C>T	2.37:g.207174722C>T	ENSP00000363545:p.Pro1824Ser						p.P1824S	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	5720	+			1824					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.5470C>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648304	0.67358	.	.	ENSG00000204186	ENST00000374423	T	0.54071	0.59	5.64	4.77	0.60923	.	.	.	.	.	T	0.63117	0.2484	L	0.40543	1.245	0.35780	D	0.821546	D	0.89917	1.0	D	0.72075	0.976	T	0.70648	-0.4814	9	0.44086	T	0.13	.	14.3702	0.66833	0.0:0.929:0.0:0.071	.	1824	Q9HCK1	ZDBF2_HUMAN	S	1824	ENSP00000363545:P1824S	ENSP00000363545:P1824S	P	+	1	0	ZDBF2	206882967	0.999000	0.42202	0.693000	0.30195	0.970000	0.65996	4.542000	0.60677	1.393000	0.46605	0.650000	0.86243	CCT		PASS	0.413	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		7	72	7	72	---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207412220	207412220	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:207412220A>T	ENST00000264377.3	+	7	1116	c.788A>T	c.(787-789)aAt>aTt	p.N263I	ADAM23_ENST00000374415.3_Missense_Mutation_p.N263I|ADAM23_ENST00000374416.1_Missense_Mutation_p.N263I	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	263					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N263I(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CAAATGAAGAATCTCAGTAAG	0.353																																					Melanoma(194;1127 2130 19620 24042 27855)	uc002vbq.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(787-789)AAT>ATT		ADAM metallopeptidase domain 23 preproprotein							70.0	71.0	71.0					2																	207412220		2202	4300	6502	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207412220A>T	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.788A>T	2.37:g.207412220A>T	ENSP00000264377:p.Asn263Ile					ADAM23_uc010ziv.1_RNA	p.N263I	NM_003812	NP_003803	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	7	1011	+			263					A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.788A>T	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.849111	0.51270	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.02067	4.47;4.47;4.47	5.61	5.61	0.85477	.	0.272697	0.26045	N	0.026663	T	0.02267	0.0070	N	0.19112	0.55	0.42876	D	0.994154	B	0.22541	0.071	B	0.22601	0.04	T	0.56902	-0.7902	10	0.54805	T	0.06	.	12.4821	0.55850	1.0:0.0:0.0:0.0	.	263	O75077	ADA23_HUMAN	I	263;263;157;263	ENSP00000264377:N263I;ENSP00000363537:N263I;ENSP00000363536:N263I	ENSP00000264377:N263I	N	+	2	0	ADAM23	207120465	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.374000	0.52402	2.263000	0.75096	0.528000	0.53228	AAT		PASS	0.353	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		8	46	8	46	---	---	---	---
AC010731.4	0	broad.mit.edu	37	2	207509077	207509077	+	lincRNA	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:207509077G>T	ENST00000543490.1	+	0	292																											AGACAGACTTGCTGGCTCTTA	0.532																																						uc010fuh.1																			0					0						c.(115-117)TTG>TTT		hypothetical protein LOC200726							55.0	55.0	55.0					2																	207509077		2013	4191	6204			200726							g.chr2:207509077G>T																													2.37:g.207509077G>T							p.L39F	NM_001102659	NP_001096129				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133)	2	292	+									Missense_Mutation	SNP	ENST00000543490.1	37	c.117G>T																																																																																					PASS	0.532	AC010731.4-201	KNOWN	basic	lincRNA	lincRNA				16	18	16	18	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211460258	211460258	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:211460258G>T	ENST00000233072.5	+	13	1507	c.1311G>T	c.(1309-1311)caG>caT	p.Q437H	CPS1_ENST00000451903.2_5'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.Q443H	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	437					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.Q437H(2)|p.Q443H(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)	CCATTGGTCAGGCTGGAGAAT	0.368																																						uc002vee.3																			3	Substitution - Missense(3)		lung(3)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(1309-1311)CAG>CAT		carbamoyl-phosphate synthetase 1 isoform b							149.0	167.0	161.0					2																	211460258		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.chr2:211460258G>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.1311G>T	2.37:g.211460258G>T	ENSP00000233072:p.Gln437His					CPS1_uc010fur.2_Missense_Mutation_p.Q443H|CPS1_uc010fus.2_Translation_Start_Site	p.Q437H	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)	13	1443	+			437					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.1311G>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804146	0.70682	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D	0.95853	-3.83;-3.83	5.81	4.02	0.46733	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, CPS-domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.052860	0.85682	D	0.000000	D	0.98686	0.9559	H	0.99525	4.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97869	1.0285	10	0.87932	D	0	-15.1982	10.7888	0.46422	0.2041:0.0:0.7959:0.0	.	447;437	Q59HF8;P31327	.;CPSM_HUMAN	H	443;445;437;437	ENSP00000402608:Q443H;ENSP00000233072:Q437H	ENSP00000233072:Q437H	Q	+	3	2	CPS1	211168503	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.766000	0.47629	0.807000	0.34208	0.460000	0.39030	CAG		PASS	0.368	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			35	144	35	144	---	---	---	---
SLC4A3	6508	broad.mit.edu	37	2	220501521	220501521	+	Silent	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:220501521G>A	ENST00000358055.3	+	16	2972	c.2460G>A	c.(2458-2460)tcG>tcA	p.S820S	SLC4A3_ENST00000317151.3_Silent_p.S820S|SLC4A3_ENST00000373762.3_Silent_p.S847S|SLC4A3_ENST00000273063.6_Silent_p.S847S|SLC4A3_ENST00000373760.2_Silent_p.S820S			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	820	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.S847S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTACATCTCGCCTTTCACCC	0.572																																						uc002vmp.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5						c.(2458-2460)TCG>TCA		solute carrier family 4, anion exchanger, member							199.0	183.0	188.0					2																	220501521		2203	4300	6503	SO:0001819	synonymous_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220501521G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2460G>A	2.37:g.220501521G>A						SLC4A3_uc002vmo.3_Silent_p.S847S|SLC4A3_uc010fwm.2_Silent_p.S370S|SLC4A3_uc010fwn.1_Silent_p.S329S	p.S820S	NM_005070	NP_005061	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	16	2729	+		Renal(207;0.0183)	820			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	37	c.2460G>A	CCDS2445.1																																																																																				PASS	0.572	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		67	127	67	127	---	---	---	---
FARSB	10056	broad.mit.edu	37	2	223436659	223436659	+	Silent	SNP	G	G	A	rs141929079	byFrequency	TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:223436659G>A	ENST00000281828.6	-	17	1964	c.1701C>T	c.(1699-1701)gaC>gaT	p.D567D	FARSB_ENST00000536361.1_Silent_p.D468D|RP11-16P6.1_ENST00000568928.1_RNA	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	567					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)	p.D567D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TGGTGATAACGTCAGGATGAA	0.502																																						uc002vne.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1699-1701)GAC>GAT		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)	G		0,4406		0,0,2203	79.0	68.0	72.0		1701	-6.2	0.8	2	dbSNP_134	72	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FARSB	NM_005687.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		567/590	223436659	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223436659G>A	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.1701C>T	2.37:g.223436659G>A						FARSB_uc010zlq.1_Silent_p.D587D|FARSB_uc002vnf.1_Silent_p.D468D	p.D567D	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	17	1736	-		Renal(207;0.0183)	567					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Silent	SNP	ENST00000281828.6	37	c.1701C>T	CCDS2454.1																																																																																				PASS	0.502	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		4	45	4	45	---	---	---	---
CHRNG	1146	broad.mit.edu	37	2	233410280	233410280	+	Silent	SNP	C	C	A	rs121912671		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:233410280C>A	ENST00000389494.3	+	12	1429	c.1408C>A	c.(1408-1410)Cga>Aga	p.R470R	CHRNG_ENST00000389492.3_Silent_p.R418R	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	470					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)	p.R470R(2)		breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	CCTGGTGGGCCGAGTGCTGGA	0.632																																						uc002vsx.1																			2	Substitution - coding silent(2)		lung(2)		0	GRCh37	CM062515	CHRNG	M	rs121912671	c.(1408-1410)CGA>AGA		cholinergic receptor, nicotinic, gamma							94.0	67.0	76.0					2																	233410280		2203	4300	6503	SO:0001819	synonymous_variant	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233410280C>A	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.1408C>A	2.37:g.233410280C>A						CHRNG_uc010fye.1_Silent_p.R418R	p.R470R	NM_005199	NP_005190	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	12	1429	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	470			Cytoplasmic (Potential).		B3KWM8|Q14DU4|Q53RG2	Silent	SNP	ENST00000389494.3	37	c.1408C>A	CCDS33400.1																																																																																				PASS	0.632	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		15	18	15	18	---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	234091054	234091054	+	Splice_Site	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:234091054A>T	ENST00000359570.5	+	21	2035		c.e21-1		INPP5D_ENST00000538935.1_Splice_Site|INPP5D_ENST00000455936.2_Splice_Site|INPP5D_ENST00000450745.1_Splice_Site			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)	p.?(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCTCCCCTGCAGGCAGTACCA	0.517																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1																			1	Unknown(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.e18-2		SH2 containing inositol phosphatase isoform a							145.0	141.0	143.0					2																	234091054		2046	4205	6251	SO:0001630	splice_region_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234091054A>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2036-1A>T	2.37:g.234091054A>T						INPP5D_uc010zmp.1_Splice_Site_p.G690_splice	p.G691_splice	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	18	2225	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)						O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Splice_Site	SNP	ENST00000359570.5	37	c.2072_splice		.	.	.	.	.	.	.	.	.	.	A	12.98	2.100371	0.37048	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.337	0.74266	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INPP5D	233755793	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	8.696000	0.91302	2.025000	0.59659	0.482000	0.46254	.		PASS	0.517	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915	Intron	20	100	20	100	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238275720	238275720	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:238275720C>T	ENST00000295550.4	-	11	5562	c.5110G>A	c.(5110-5112)Gac>Aac	p.D1704N	COL6A3_ENST00000347401.3_Missense_Mutation_p.D1503N|COL6A3_ENST00000472056.1_Missense_Mutation_p.D1097N|COL6A3_ENST00000353578.4_Missense_Mutation_p.D1498N|COL6A3_ENST00000409809.1_Missense_Mutation_p.D1498N|COL6A3_ENST00000346358.4_Missense_Mutation_p.D1504N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1704	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D1704N(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTGATGGCGTCAATAATCTGC	0.527																																						uc002vwl.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(5110-5112)GAC>AAC		alpha 3 type VI collagen isoform 1 precursor							90.0	74.0	79.0					2																	238275720		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275720C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5110G>A	2.37:g.238275720C>T	ENSP00000295550:p.Asp1704Asn					COL6A3_uc002vwo.2_Missense_Mutation_p.D1498N|COL6A3_uc010znj.1_Missense_Mutation_p.D1097N	p.D1704N	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	11	5395	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1704			VWFA 9.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5110G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768047	0.49680	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.56	5.56	0.83823	von Willebrand factor, type A (3);	0.103719	0.41605	D	0.000856	T	0.81322	0.4798	N	0.25144	0.715	0.27762	N	0.943802	D;D;B	0.89917	1.0;1.0;0.437	D;D;B	0.79784	0.993;0.987;0.153	T	0.74259	-0.3723	10	0.28530	T	0.3	.	19.5163	0.95167	0.0:1.0:0.0:0.0	.	1097;1498;1704	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	N	1704;1503;1498;1097;1498;1504	ENSP00000295550:D1704N;ENSP00000315609:D1503N;ENSP00000315873:D1498N;ENSP00000418285:D1097N;ENSP00000386844:D1498N;ENSP00000295546:D1504N	ENSP00000295550:D1704N	D	-	1	0	COL6A3	237940459	0.909000	0.30893	0.129000	0.21949	0.810000	0.45777	2.377000	0.44300	2.604000	0.88044	0.650000	0.86243	GAC		PASS	0.527	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		4	38	4	38	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238289868	238289868	+	Silent	SNP	T	T	C	rs574912582	byFrequency	TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:238289868T>C	ENST00000295550.4	-	5	2039	c.1587A>G	c.(1585-1587)ctA>ctG	p.L529L	COL6A3_ENST00000347401.3_Silent_p.L328L|COL6A3_ENST00000472056.1_Silent_p.L122L|COL6A3_ENST00000353578.4_Silent_p.L323L|COL6A3_ENST00000409809.1_Silent_p.L323L|COL6A3_ENST00000392004.3_Silent_p.L323L|COL6A3_ENST00000392003.2_Silent_p.L122L|COL6A3_ENST00000346358.4_Silent_p.L529L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	529	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L323L(1)|p.L529L(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAACAAAGTCTAGAGCAGAGC	0.512													T|||	9	0.00179712	0.0	0.0	5008	,	,		19156	0.0		0.0	False		,,,				2504	0.0092					uc002vwl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(1585-1587)CTA>CTG		alpha 3 type VI collagen isoform 1 precursor							79.0	90.0	86.0					2																	238289868		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238289868T>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1587A>G	2.37:g.238289868T>C						COL6A3_uc002vwo.2_Silent_p.L323L|COL6A3_uc010znj.1_Silent_p.L122L|COL6A3_uc002vwq.2_Silent_p.L323L|COL6A3_uc002vwr.2_Silent_p.L122L|COL6A3_uc010znk.1_Silent_p.L529L	p.L529L	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	5	1872	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	529			VWFA 3.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.1587A>G	CCDS33412.1																																																																																				PASS	0.512	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		25	151	25	151	---	---	---	---
SEPT2	4735	broad.mit.edu	37	2	242287601	242287601	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:242287601G>C	ENST00000391973.2	+	11	1507	c.979G>C	c.(979-981)Gct>Cct	p.A327P	SEPT2_ENST00000391971.2_Missense_Mutation_p.A327P|SEPT2_ENST00000360051.3_Missense_Mutation_p.A327P|SEPT2_ENST00000401990.1_Missense_Mutation_p.A337P|SEPT2_ENST00000407971.1_Missense_Mutation_p.A287P|SEPT2_ENST00000402092.2_Missense_Mutation_p.A327P	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	327					cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)	p.A327P(1)		central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		GGAAAAAGAAGCTGAGGTAAG	0.398																																						uc002wbc.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(979-981)GCT>CCT		septin 2							162.0	162.0	162.0					2																	242287601		2203	4300	6503	SO:0001583	missense	4735				cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding	g.chr2:242287601G>C	D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.979G>C	2.37:g.242287601G>C	ENSP00000375834:p.Ala327Pro					SEPT2_uc002wbd.2_Missense_Mutation_p.A327P|SEPT2_uc002wbf.2_Missense_Mutation_p.A327P|SEPT2_uc002wbg.2_Missense_Mutation_p.A327P|SEPT2_uc002wbh.2_Missense_Mutation_p.A337P|SEPT2_uc010zop.1_Missense_Mutation_p.A362P	p.A327P	NM_001008491	NP_001008491	Q15019	SEPT2_HUMAN		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)	12	1400	+		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	327					B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	ENST00000391973.2	37	c.979G>C	CCDS2548.1	.	.	.	.	.	.	.	.	.	.	G	33	5.270428	0.95429	.	.	ENSG00000168385	ENST00000391973;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000402092;ENST00000391972;ENST00000421717	T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.6;0.6;0.59;0.79	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.69700	0.3140	M	0.73217	2.22	0.80722	D	1	D;D;D	0.59357	0.979;0.985;0.978	P;P;P	0.56960	0.81;0.674;0.719	T	0.70941	-0.4735	10	0.66056	D	0.02	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	362;287;327	Q15019-2;B5MCX3;Q15019	.;.;SEPT2_HUMAN	P	327;327;327;337;287;327;362;154	ENSP00000375834:A327P;ENSP00000353157:A327P;ENSP00000375832:A327P;ENSP00000385109:A337P;ENSP00000384525:A287P;ENSP00000385172:A327P;ENSP00000408296:A154P	ENSP00000353157:A327P	A	+	1	0	SEPT2	241936274	1.000000	0.71417	0.998000	0.56505	0.890000	0.51754	8.893000	0.92498	2.782000	0.95742	0.655000	0.94253	GCT		PASS	0.398	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155		43	58	43	58	---	---	---	---
EMC3	55831	broad.mit.edu	37	3	10049250	10049250	+	lincRNA	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:10049250G>T	ENST00000383808.2	-	0	748				AC034193.5_ENST00000326237.3_RNA														p.T45T(1)									AGTGCTTCTGGGTGAGGCAGG	0.572																																						uc003bur.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(133-135)ACC>ACA		hypothetical protein LOC401052							94.0	96.0	95.0					3																	10049250		2016	4183	6199			401052							g.chr3:10049250G>T																													3.37:g.10049250G>T						CIDEC_uc003bto.2_Intron	p.T45T	NM_001008737	NP_001008737	B3KMQ7	B3KMQ7_HUMAN			4	749	-			45						Silent	SNP	ENST00000383808.2	37	c.135C>A																																																																																					PASS	0.572	AC022007.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000339469.1			6	135	6	135	---	---	---	---
IQSEC1	9922	broad.mit.edu	37	3	12954962	12954962	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:12954962T>C	ENST00000273221.4	-	9	2540	c.2324A>G	c.(2323-2325)cAg>cGg	p.Q775R		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	775	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.Q775R(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATTTCTCGCTGGTGTAGTCC	0.582																																						uc003bxt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2323-2325)CAG>CGG		IQ motif and Sec7 domain 1 isoform b							152.0	119.0	130.0					3																	12954962		2202	4300	6502	SO:0001583	missense	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12954962T>C	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2324A>G	3.37:g.12954962T>C	ENSP00000273221:p.Gln775Arg					IQSEC1_uc003bxu.3_Missense_Mutation_p.Q653R|IQSEC1_uc011auw.1_Missense_Mutation_p.Q761R	p.Q775R	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN			9	2333	-			775			PH.		O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.2324A>G	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.717148	0.89205	.	.	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.53640	0.61;0.61	4.98	4.98	0.66077	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.67748	0.2926	.	.	.	0.80722	D	1	D;D;D	0.63046	0.992;0.987;0.992	D;P;D	0.65773	0.938;0.902;0.911	T	0.72956	-0.4134	9	0.72032	D	0.01	.	14.6531	0.68811	0.0:0.0:0.0:1.0	.	761;761;775	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	R	775;761;761	ENSP00000273221:Q775R;ENSP00000402299:Q761R	ENSP00000273221:Q775R	Q	-	2	0	IQSEC1	12929962	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.992000	0.88273	1.865000	0.54081	0.533000	0.62120	CAG		PASS	0.582	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		11	13	11	13	---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33602366	33602366	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:33602366T>C	ENST00000468888.2	-	28	2934	c.2888A>G	c.(2887-2889)aAa>aGa	p.K963R	CLASP2_ENST00000461133.3_Missense_Mutation_p.K722R|CLASP2_ENST00000359576.5_Missense_Mutation_p.K954R|CLASP2_ENST00000399362.4_Missense_Mutation_p.K962R|CLASP2_ENST00000539981.1_Missense_Mutation_p.K732R|CLASP2_ENST00000307312.7_Missense_Mutation_p.K444R|CLASP2_ENST00000480013.1_Missense_Mutation_p.K742R			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	743	Interaction with RSN and localization to the Golgi and kinetochores.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.K955R(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ACCCATTTTTTTTAGTAGTTG	0.353																																						uc003cfu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2863-2865)AAA>AGA		CLIP-associating protein 2							183.0	189.0	187.0					3																	33602366		1844	4103	5947	SO:0001583	missense	23122							g.chr3:33602366T>C	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2888A>G	3.37:g.33602366T>C	ENSP00000419974:p.Lys963Arg					CLASP2_uc003cfs.2_Missense_Mutation_p.K162R|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.K555R	p.K955R	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN			27	3218	-			964					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.2864A>G		.	.	.	.	.	.	.	.	.	.	T	25.4	4.632096	0.87660	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.62	5.62	0.85841	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78916	0.4359	M	0.64997	1.995	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.981	D;D;D	0.78314	0.991;0.991;0.914	T	0.76745	-0.2846	10	0.30854	T	0.27	-19.5207	15.8389	0.78824	0.0:0.0:0.0:1.0	.	743;954;962	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	R	963;962;954;444;732;742;722	ENSP00000419974:K963R;ENSP00000382297:K962R;ENSP00000352581:K954R;ENSP00000304743:K444R;ENSP00000439039:K732R;ENSP00000417518:K742R;ENSP00000419305:K722R	ENSP00000304743:K444R	K	-	2	0	CLASP2	33577370	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.717000	0.84732	2.150000	0.67090	0.533000	0.62120	AAA		PASS	0.353	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		104	93	104	93	---	---	---	---
ARPP21	10777	broad.mit.edu	37	3	35758790	35758790	+	Splice_Site	SNP	T	T	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:35758790T>A	ENST00000187397.4	+	13	1392	c.936T>A	c.(934-936)agT>agA	p.S312R	ARPP21_ENST00000444190.1_Intron|ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000458225.1_Splice_Site_p.S278R|ARPP21_ENST00000417925.1_Splice_Site_p.S278R	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	312				Missing (in Ref. 6; CAB61414). {ECO:0000305}.	cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.S312R(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TCATTTCCAGTAGGCTCTTGG	0.343																																						uc003cgb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(934-936)AGT>AGA		cyclic AMP-regulated phosphoprotein, 21 kD							150.0	152.0	151.0					3																	35758790		2203	4300	6503	SO:0001630	splice_region_variant	10777					cytoplasm	nucleic acid binding	g.chr3:35758790T>A	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.936-1T>A	3.37:g.35758790T>A						ARPP21_uc003cga.2_Intron|ARPP21_uc011axy.1_Missense_Mutation_p.S278R|ARPP21_uc003cgf.2_Intron	p.S312R	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			13	1200	+			312	Missing (in Ref. 6; CAB61414).				B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.936T>A	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	T	8.908	0.957890	0.18507	.	.	ENSG00000172995	ENST00000458225;ENST00000187397;ENST00000417925;ENST00000425289	T;T;T	0.25250	1.81;1.9;1.81	5.3	4.13	0.48395	.	0.213400	0.45361	D	0.000369	T	0.19087	0.0458	L	0.41236	1.265	0.80722	D	1	B;B	0.15141	0.012;0.009	B;B	0.16289	0.015;0.004	T	0.05305	-1.0893	9	.	.	.	.	9.2545	0.37575	0.0:0.0839:0.0:0.9161	.	278;312	Q9UBL0-3;Q9UBL0	.;ARP21_HUMAN	R	278;312;278;83	ENSP00000414351:S278R;ENSP00000187397:S312R;ENSP00000412326:S278R	.	S	+	3	2	ARPP21	35733794	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.776000	0.38594	2.009000	0.58944	0.528000	0.53228	AGT		PASS	0.343	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399	Missense_Mutation	25	32	25	32	---	---	---	---
ACKR2	1238	broad.mit.edu	37	3	42906393	42906393	+	Missense_Mutation	SNP	T	T	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:42906393T>A	ENST00000422265.1	+	3	574	c.399T>A	c.(397-399)ttT>ttA	p.F133L	CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.F133L|ACKR2_ENST00000442925.1_Missense_Mutation_p.F133L|RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	133					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.F133L(1)									GTGGCATCTTTTTCATTAGCT	0.522																																						uc003cme.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(1)	5						c.(397-399)TTT>TTA		chemokine binding protein 2							134.0	138.0	137.0					3																	42906393		2203	4300	6503	SO:0001583	missense	1238				chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity	g.chr3:42906393T>A	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.399T>A	3.37:g.42906393T>A	ENSP00000416996:p.Phe133Leu					CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmf.2_Missense_Mutation_p.F133L|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron	p.F133L	NM_001296	NP_001287	O00590	CCBP2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	3	578	+			133			Helical; Name=3; (Potential).		B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	c.399T>A	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	T	19.47	3.834260	0.71373	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.37058	1.22;1.22;1.22	5.28	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000105	T	0.21387	0.0515	N	0.17564	0.495	0.80722	D	1	P	0.42296	0.775	B	0.42738	0.396	T	0.03384	-1.1042	9	.	.	.	.	6.0126	0.19584	0.0:0.6223:0.1471:0.2306	.	133	O00590	CCBP2_HUMAN	L	133	ENSP00000396150:F133L;ENSP00000416996:F133L;ENSP00000273145:F133L	.	F	+	3	2	CCBP2	42881397	0.008000	0.16893	1.000000	0.80357	0.987000	0.75469	-0.897000	0.04110	0.269000	0.21961	0.460000	0.39030	TTT		PASS	0.522	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		35	106	35	106	---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64587633	64587633	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:64587633C>G	ENST00000498707.1	-	26	4346	c.4004G>C	c.(4003-4005)gGc>gCc	p.G1335A	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G1307A	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1335	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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.G1335A(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)		TCCCCAGGGGCCAGTTCTCCA	0.532																																						uc003dmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|urinary_tract(1)|skin(1)	4						c.(4003-4005)GGC>GCC		ADAM metallopeptidase with thrombospondin type 1							61.0	63.0	62.0					3																	64587633		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64587633C>G	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.4004G>C	3.37:g.64587633C>G	ENSP00000418735:p.Gly1335Ala					ADAMTS9_uc011bfo.1_Missense_Mutation_p.G1307A|ADAMTS9_uc003dmh.1_Missense_Mutation_p.G1164A|ADAMTS9_uc011bfp.1_Missense_Mutation_p.G246A	p.G1335A	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)	26	4036	-		Lung NSC(201;0.00682)	1335			TSP type-1 9.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.4004G>C	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.5|26.5	4.739169|4.739169	0.89573|0.89573	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|T;T	.|0.63744	.|-0.06;-0.06	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.057794	.|0.64402	.|D	.|0.000001	T|T	0.81503|0.81503	0.4836|0.4836	M|M	0.82433|0.82433	2.59|2.59	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.997;0.999;0.999	.|D;D;D	.|0.71414	.|0.955;0.958;0.973	T|T	0.82954|0.82954	-0.0201|-0.0201	5|10	.|0.72032	.|D	.|0.01	.|.	19.7069|19.7069	0.96076|0.96076	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1307;1335;1335	.|B7ZVX9;Q9P2N4-1;Q9P2N4	.|.;.;ATS9_HUMAN	P|A	391|1307;1335	.|ENSP00000295903:G1307A;ENSP00000418735:G1335A	.|ENSP00000295903:G1307A	A|G	-|-	1|2	0|0	ADAMTS9|ADAMTS9	64562673|64562673	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.984000|0.984000	0.73092|0.73092	7.320000|7.320000	0.79064|0.79064	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GCC|GGC		PASS	0.532	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			29	35	29	35	---	---	---	---
HTR1F	3355	broad.mit.edu	37	3	88039993	88039993	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:88039993G>T	ENST00000319595.4	+	1	148	c.94G>T	c.(94-96)Ggg>Tgg	p.G32W		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	32					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.G32W(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)	CACTCTGTCTGGGCTGGCACT	0.418																																						uc003dqr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(94-96)GGG>TGG		5-hydroxytryptamine (serotonin) receptor 1F	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						144.0	141.0	142.0					3																	88039993		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.chr3:88039993G>T	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.94G>T	3.37:g.88039993G>T	ENSP00000322924:p.Gly32Trp						p.G32W	NM_000866	NP_000857	P30939	5HT1F_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	2	252	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)	32			Helical; Name=1; (By similarity).			Missense_Mutation	SNP	ENST00000319595.4	37	c.94G>T	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725151	0.30593	.	.	ENSG00000179097	ENST00000319595	T	0.37584	1.19	5.5	3.51	0.40186	.	0.483444	0.21515	N	0.073311	T	0.19167	0.0460	N	0.08118	0	0.09310	N	1	P	0.42357	0.777	B	0.42188	0.379	T	0.04242	-1.0966	10	0.51188	T	0.08	.	6.0339	0.19694	0.1766:0.0:0.6596:0.1638	.	32	P30939	5HT1F_HUMAN	W	32	ENSP00000322924:G32W	ENSP00000322924:G32W	G	+	1	0	HTR1F	88122683	0.993000	0.37304	0.384000	0.26145	0.987000	0.75469	2.669000	0.46825	1.334000	0.45468	0.585000	0.79938	GGG		PASS	0.418	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		74	167	74	167	---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89176407	89176407	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:89176407C>G	ENST00000336596.2	+	2	362	c.137C>G	c.(136-138)tCt>tGt	p.S46C	EPHA3_ENST00000494014.1_Missense_Mutation_p.S46C|EPHA3_ENST00000452448.2_Missense_Mutation_p.S46C	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	46	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.S46C(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GGCTGGATCTCTTATCCATCA	0.333										TSP Lung(6;0.00050)																												uc003dqy.2																			2	Substitution - Missense(2)		lung(2)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(136-138)TCT>TGT		ephrin receptor EphA3 isoform a precursor							108.0	114.0	112.0					3																	89176407		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89176407C>G	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.137C>G	3.37:g.89176407C>G	ENSP00000337451:p.Ser46Cys	TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Missense_Mutation_p.S46C|EPHA3_uc010hon.1_RNA	p.S46C	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	2	362	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	46			Extracellular (Potential).		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.137C>G	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.904716	0.72868	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.03860	3.78;3.78;3.78	5.41	5.41	0.78517	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.21881	0.0527	M	0.71581	2.175	0.51767	D	0.999936	D;D	0.89917	0.999;1.0	D;D	0.81914	0.995;0.957	T	0.00078	-1.2114	9	.	.	.	.	19.1577	0.93518	0.0:1.0:0.0:0.0	.	46;46	P29320;P29320-2	EPHA3_HUMAN;.	C	46	ENSP00000337451:S46C;ENSP00000399926:S46C;ENSP00000419190:S46C	.	S	+	2	0	EPHA3	89259097	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.971000	0.70440	2.691000	0.91804	0.650000	0.86243	TCT		PASS	0.333	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		40	89	40	89	---	---	---	---
OR5H6	79295	broad.mit.edu	37	3	97983199	97983199	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:97983199T>C	ENST00000383696.2	+	1	112	c.71T>C	c.(70-72)tTg>tCg	p.L24S	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L24*(1)|p.L24S(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AATGCAACATTGCTGACAGAG	0.408																																						uc003dsi.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	skin(2)|large_intestine(1)	3						c.(70-72)TTG>TCG		olfactory receptor, family 5, subfamily H,							148.0	150.0	149.0					3																	97983199		2203	4300	6503	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983199T>C	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.71T>C	3.37:g.97983199T>C	ENSP00000373196:p.Leu24Ser						p.L24S	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			1	71	+			24			Extracellular (Potential).		Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.71T>C	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	6.787	0.514215	0.12944	.	.	ENSG00000230301	ENST00000383696	T	0.19938	2.11	2.19	0.873	0.19118	.	0.489617	0.15071	N	0.282191	T	0.07818	0.0196	N	0.04768	-0.165	0.09310	N	1	B	0.27971	0.196	B	0.26693	0.072	T	0.36383	-0.9750	10	0.19590	T	0.45	.	4.8941	0.13742	0.5063:0.0:0.0:0.4936	.	24	Q8NGV6	OR5H6_HUMAN	S	24	ENSP00000373196:L24S	ENSP00000373196:L24S	L	+	2	0	OR5H6	99465889	0.000000	0.05858	0.000000	0.03702	0.236000	0.25371	-0.549000	0.06041	0.080000	0.16959	0.163000	0.16589	TTG		PASS	0.408	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			18	197	18	197	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108773610	108773610	+	Missense_Mutation	SNP	T	T	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:108773610T>G	ENST00000483760.1	-	14	1338	c.1295A>C	c.(1294-1296)cAg>cCg	p.Q432P	MORC1_ENST00000232603.5_Missense_Mutation_p.Q432P					MORC family CW-type zinc finger 1									p.Q432P(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GACCAAGTACTGTCCCATGAC	0.383																																						uc003dxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|breast(2)	8						c.(1294-1296)CAG>CCG		MORC family CW-type zinc finger 1							173.0	166.0	168.0					3																	108773610		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108773610T>G	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1295A>C	3.37:g.108773610T>G	ENSP00000417282:p.Gln432Pro					MORC1_uc011bhn.1_Missense_Mutation_p.Q432P	p.Q432P	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			14	1382	-			432						Missense_Mutation	SNP	ENST00000483760.1	37	c.1295A>C		.	.	.	.	.	.	.	.	.	.	T	14.06	2.423091	0.43020	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06294	3.32;3.33	5.09	2.57	0.30868	.	0.274240	0.26542	N	0.023789	T	0.07999	0.0200	M	0.73217	2.22	0.32912	D	0.51468	D;P	0.56035	0.974;0.818	B;B	0.41571	0.36;0.222	T	0.19160	-1.0314	10	0.59425	D	0.04	-5.2194	5.4694	0.16662	0.1648:0.0914:0.0:0.7437	.	432;432	E7ERX1;Q86VD1	.;MORC1_HUMAN	P	432	ENSP00000232603:Q432P;ENSP00000417282:Q432P	ENSP00000232603:Q432P	Q	-	2	0	MORC1	110256300	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	3.311000	0.51919	0.967000	0.38186	0.528000	0.53228	CAG		PASS	0.383	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			56	107	56	107	---	---	---	---
GRAMD1C	54762	broad.mit.edu	37	3	113658813	113658813	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:113658813G>A	ENST00000358160.4	+	16	2264	c.1772G>A	c.(1771-1773)cGt>cAt	p.R591H	GRAMD1C_ENST00000440446.2_Missense_Mutation_p.R386H|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.R424H|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.R320H|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	591						integral component of membrane (GO:0016021)		p.R591H(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TCCTTTTACCGTCTCCGCCTC	0.368																																						uc003eaq.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1771-1773)CGT>CAT		GRAM domain containing 1C							172.0	163.0	166.0					3																	113658813		2203	4300	6503	SO:0001583	missense	54762					integral to membrane		g.chr3:113658813G>A		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1772G>A	3.37:g.113658813G>A	ENSP00000350881:p.Arg591His					GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc003ear.2_Missense_Mutation_p.R424H|GRAMD1C_uc003eas.2_Missense_Mutation_p.R386H|GRAMD1C_uc003eat.2_Missense_Mutation_p.R250H	p.R591H	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN			16	1848	+			591					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.1772G>A	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788493	0.31685	.	.	ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000440446	T;T;T;T	0.44482	1.52;0.92;0.94;0.94	5.53	0.587	0.17439	.	0.325526	0.31301	N	0.007894	T	0.25494	0.0620	L	0.31294	0.92	0.09310	N	0.999996	B;B	0.13145	0.007;0.007	B;B	0.11329	0.006;0.002	T	0.20207	-1.0282	10	0.17832	T	0.49	.	9.1706	0.37078	0.4039:0.0:0.596:0.0	.	424;591	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	H	591;320;424;386	ENSP00000350881:R591H;ENSP00000399844:R320H;ENSP00000419132:R424H;ENSP00000408135:R386H	ENSP00000350881:R591H	R	+	2	0	GRAMD1C	115141503	0.035000	0.19736	0.071000	0.20095	0.871000	0.50021	0.103000	0.15292	0.108000	0.17862	-0.142000	0.14014	CGT		PASS	0.368	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		6	107	6	107	---	---	---	---
ZBTB20	26137	broad.mit.edu	37	3	114069951	114069951	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:114069951C>G	ENST00000474710.1	-	4	1152	c.974G>C	c.(973-975)gGc>gCc	p.G325A	ZBTB20_ENST00000464560.1_Missense_Mutation_p.G252A|ZBTB20_ENST00000462705.1_Missense_Mutation_p.G252A|ZBTB20_ENST00000357258.3_Missense_Mutation_p.G252A|ZBTB20_ENST00000393785.2_Missense_Mutation_p.G252A|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000481632.1_Missense_Mutation_p.G252A|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Missense_Mutation_p.G252A	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	325						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.G252A(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGGATGTTGCCCACTAGGGT	0.612																																					NSCLC(69;748 1344 9802 11203 30933)	uc003ebi.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(973-975)GGC>GCC		zinc finger and BTB domain containing 20 isoform							138.0	115.0	123.0					3																	114069951		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069951C>G	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.974G>C	3.37:g.114069951C>G	ENSP00000419153:p.Gly325Ala					ZBTB20_uc003ebj.2_Missense_Mutation_p.G252A|ZBTB20_uc010hqp.2_Missense_Mutation_p.G252A|ZBTB20_uc003ebk.2_Missense_Mutation_p.G252A|ZBTB20_uc003ebl.2_Missense_Mutation_p.G252A|ZBTB20_uc003ebm.2_Missense_Mutation_p.G252A|ZBTB20_uc003ebn.2_Missense_Mutation_p.G252A|uc003ebo.1_5'Flank	p.G325A	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	4	1154	-			325					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.974G>C	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843211	0.71488	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.24151	2.85;2.85;2.85;2.85;1.87;2.85;2.85	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.41073	0.1143	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.17258	-1.0375	10	0.54805	T	0.06	.	19.6361	0.95733	0.0:1.0:0.0:0.0	.	325	Q9HC78	ZBT20_HUMAN	A	252;252;252;252;325;252;252	ENSP00000420324:G252A;ENSP00000377375:G252A;ENSP00000418092:G252A;ENSP00000419902:G252A;ENSP00000419153:G325A;ENSP00000349803:G252A;ENSP00000417307:G252A	ENSP00000349803:G252A	G	-	2	0	ZBTB20	115552641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.092000	0.76930	2.878000	0.98634	0.650000	0.86243	GGC		PASS	0.612	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		45	149	45	149	---	---	---	---
MAATS1	89876	broad.mit.edu	37	3	119459492	119459492	+	Missense_Mutation	SNP	A	A	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:119459492A>C	ENST00000273390.5	+	13	1707	c.1630A>C	c.(1630-1632)Aag>Cag	p.K544Q		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	380						mitochondrion (GO:0005739)		p.K544Q(1)									AAAAGCCGAGAAGCAAGTGAC	0.443																																						uc003ede.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1630-1632)AAG>CAG		AAT1-alpha							69.0	71.0	70.0					3																	119459492		2203	4300	6503	SO:0001583	missense	89876					mitochondrion	protein binding	g.chr3:119459492A>C	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1630A>C	3.37:g.119459492A>C	ENSP00000273390:p.Lys544Gln					C3orf15_uc010hqy.1_Missense_Mutation_p.K544Q|C3orf15_uc010hqz.2_Missense_Mutation_p.K482Q|C3orf15_uc011bjd.1_Missense_Mutation_p.K418Q|C3orf15_uc011bje.1_Missense_Mutation_p.K524Q|C3orf15_uc010hra.1_Missense_Mutation_p.K305Q	p.K544Q	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	13	1707	+			380			Potential.		A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.1630A>C	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.779962	0.90195	.	.	ENSG00000183833	ENST00000273390	T	0.26373	1.74	5.49	5.49	0.81192	.	0.045988	0.85682	D	0.000000	T	0.55097	0.1899	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.999;0.996;1.0	D;P;D;P;D	0.81914	0.995;0.878;0.975;0.898;0.995	T	0.58847	-0.7564	10	0.40728	T	0.16	-2.1238	15.5697	0.76323	1.0:0.0:0.0:0.0	.	380;305;482;544;544	Q7Z4T9;Q9UFB4;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7	AAT1_HUMAN;.;.;.;.	Q	544	ENSP00000273390:K544Q	ENSP00000273390:K544Q	K	+	1	0	C3orf15	120942182	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.729000	0.54999	2.089000	0.63090	0.482000	0.46254	AAG		PASS	0.443	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		17	36	17	36	---	---	---	---
STXBP5L	9515	broad.mit.edu	37	3	121126218	121126218	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:121126218A>G	ENST00000273666.6	+	24	3059	c.2788A>G	c.(2788-2790)Aga>Gga	p.R930G	STXBP5L_ENST00000472879.1_Missense_Mutation_p.R906G|STXBP5L_ENST00000497029.1_Missense_Mutation_p.R904G|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R906G|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R930G	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	930					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R930G(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAAATCTTGGAGAAGGAAAGT	0.393																																						uc003eec.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(2)	9						c.(2788-2790)AGA>GGA		syntaxin binding protein 5-like							97.0	93.0	95.0					3																	121126218		1850	4090	5940	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121126218A>G	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2788A>G	3.37:g.121126218A>G	ENSP00000273666:p.Arg930Gly					STXBP5L_uc011bji.1_Missense_Mutation_p.R906G	p.R930G	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	24	2928	+			930			WD 12.		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2788A>G	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.211958	0.39102	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.40476	1.03;1.03;1.96;1.96;1.96;1.03	4.69	3.51	0.40186	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.371913	0.30800	N	0.008845	T	0.31734	0.0806	L	0.46157	1.445	0.29705	N	0.839884	B;B	0.32653	0.379;0.144	B;B	0.26969	0.075;0.04	T	0.17349	-1.0372	10	0.22109	T	0.4	-5.9429	11.7903	0.52065	0.8527:0.1473:0.0:0.0	.	906;930	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	G	930;906;906;904;930;873	ENSP00000273666:R930G;ENSP00000420019:R906G;ENSP00000419627:R906G;ENSP00000420287:R904G;ENSP00000420666:R930G;ENSP00000420167:R873G	ENSP00000273666:R930G	R	+	1	2	STXBP5L	122608908	1.000000	0.71417	0.996000	0.52242	0.922000	0.55478	4.692000	0.61746	0.912000	0.36772	-0.323000	0.08544	AGA		PASS	0.393	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			21	55	21	55	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121228452	121228452	+	Missense_Mutation	SNP	T	T	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:121228452T>G	ENST00000264233.5	-	12	2043	c.1915A>C	c.(1915-1917)Atg>Ctg	p.M639L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	639					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.M774L(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)		AAGCCCTTCATTGCTCTTTGC	0.348								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.(1915-1917)ATG>CTG	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							83.0	88.0	86.0					3																	121228452		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.chr3:121228452T>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.1915A>C	3.37:g.121228452T>G	ENSP00000264233:p.Met639Leu						p.M639L	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	12	2044	-			639					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.1915A>C	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	T	7.740	0.701121	0.15172	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.45668	0.89	4.92	4.92	0.64577	.	0.224065	0.53938	D	0.000041	T	0.29423	0.0733	L	0.27053	0.805	0.49483	D	0.999791	B	0.02656	0.0	B	0.04013	0.001	T	0.08827	-1.0703	10	0.12103	T	0.63	.	14.8533	0.70316	0.0:0.0:0.0:1.0	.	639	O75417	DPOLQ_HUMAN	L	262;639;775	ENSP00000264233:M639L	ENSP00000264233:M639L	M	-	1	0	POLQ	122711142	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.580000	0.82523	1.973000	0.57446	0.477000	0.44152	ATG		PASS	0.348	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		28	90	28	90	---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121448165	121448165	+	Missense_Mutation	SNP	T	T	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:121448165T>G	ENST00000340645.5	-	4	397	c.272A>C	c.(271-273)aAc>aCc	p.N91T	GOLGB1_ENST00000393667.3_Missense_Mutation_p.N91T|GOLGB1_ENST00000472829.1_5'UTR	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	91					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.N91T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTAATTTTGTTATCAGCAGC	0.318																																						uc003eei.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(2)|skin(2)	10						c.(271-273)AAC>ACC		golgi autoantigen, golgin subfamily b,							99.0	104.0	102.0					3																	121448165		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121448165T>G	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.272A>C	3.37:g.121448165T>G	ENSP00000341848:p.Asn91Thr					GOLGB1_uc010hrc.2_Missense_Mutation_p.N91T|GOLGB1_uc003eej.3_Missense_Mutation_p.N52T|GOLGB1_uc011bjm.1_Missense_Mutation_p.N52T|GOLGB1_uc010hrd.1_Missense_Mutation_p.N91T	p.N91T	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	4	398	-			91			Potential.|Cytoplasmic (Potential).		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.272A>C	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.047|3.047	-0.196145|-0.196145	0.06259|0.06259	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517|ENST00000489400	T;T;T|.	0.21932|.	2.58;2.58;1.98|.	5.48|5.48	0.0235|0.0235	0.14137|0.14137	.|.	0.737030|.	0.12803|.	N|.	0.437859|.	T|T	0.36717|0.36717	0.0977|0.0977	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	B;P;B;P;B|.	0.38078|.	0.01;0.617;0.01;0.465;0.01|.	B;B;B;B;B|.	0.33960|.	0.007;0.173;0.007;0.124;0.007|.	T|T	0.35992|0.35992	-0.9766|-0.9766	10|5	0.15499|.	T|.	0.54|.	.|.	1.0406|1.0406	0.01558|0.01558	0.1499:0.1763:0.1553:0.5185|0.1499:0.1763:0.1553:0.5185	.|.	52;91;91;91;91|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	T|P	91|37	ENSP00000341848:N91T;ENSP00000377275:N91T;ENSP00000418231:N91T|.	ENSP00000341848:N91T|.	N|T	-|-	2|1	0|0	GOLGB1|GOLGB1	122930855|122930855	0.863000|0.863000	0.29885|0.29885	0.942000|0.942000	0.38095|0.38095	0.103000|0.103000	0.19146|0.19146	0.145000|0.145000	0.16157|0.16157	0.417000|0.417000	0.25871|0.25871	0.482000|0.482000	0.46254|0.46254	AAC|ACA		PASS	0.318	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		30	101	30	101	---	---	---	---
CASR	846	broad.mit.edu	37	3	121980410	121980410	+	Silent	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:121980410C>T	ENST00000490131.1	+	4	900	c.528C>T	c.(526-528)aaC>aaT	p.N176N	CASR_ENST00000498619.1_Silent_p.N176N|CASR_ENST00000296154.5_Silent_p.N176N	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	176					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.N176N(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCCTCAGCAACAAGAATCAAT	0.517																																						uc003eev.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(526-528)AAC>AAT		calcium-sensing receptor precursor	Cinacalcet(DB01012)						129.0	135.0	133.0					3																	121980410		2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121980410C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.528C>T	3.37:g.121980410C>T						CASR_uc003eew.3_Silent_p.N176N	p.N176N	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	4	900	+			176			Extracellular (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.528C>T	CCDS3010.1																																																																																				PASS	0.517	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		34	197	34	197	---	---	---	---
ZNF148	7707	broad.mit.edu	37	3	124953165	124953165	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:124953165G>C	ENST00000360647.4	-	8	1161	c.676C>G	c.(676-678)Cca>Gca	p.P226A	ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000484491.1_Missense_Mutation_p.P226A|ZNF148_ENST00000544464.1_Missense_Mutation_p.P21A|ZNF148_ENST00000485866.1_Missense_Mutation_p.P226A|ZNF148_ENST00000468369.1_Missense_Mutation_p.P34A|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.P226A	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	226					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.P226A(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CAGCGAAATGGTTTTTCACCT	0.299																																						uc003ehx.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(676-678)CCA>GCA		zinc finger protein 148							93.0	94.0	94.0					3																	124953165		2203	4296	6499	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124953165G>C	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.676C>G	3.37:g.124953165G>C	ENSP00000353863:p.Pro226Ala					SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Missense_Mutation_p.P226A|ZNF148_uc010hsa.2_Missense_Mutation_p.P226A|ZNF148_uc003eia.3_Missense_Mutation_p.P226A|ZNF148_uc003ehy.2_Missense_Mutation_p.P21A	p.P226A	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN			8	1162	-			226					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.676C>G	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.621072	0.46736	.	.	ENSG00000163848	ENST00000360647;ENST00000468369;ENST00000484491;ENST00000544464;ENST00000492394;ENST00000485866;ENST00000543574	T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62	5.32	5.32	0.75619	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.62588	0.2440	M	0.85859	2.78	0.40907	D	0.984206	D;D	0.76494	0.999;0.999	D;D	0.83275	0.994;0.996	T	0.68633	-0.5357	10	0.87932	D	0	-11.1697	19.1883	0.93653	0.0:0.0:1.0:0.0	.	34;226	G5E9X2;Q9UQR1	.;ZN148_HUMAN	A	226;34;226;21;226;226;226	ENSP00000353863:P226A;ENSP00000420102:P34A;ENSP00000420335:P226A;ENSP00000437916:P21A;ENSP00000419322:P226A;ENSP00000420448:P226A	ENSP00000353863:P226A	P	-	1	0	ZNF148	126435855	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.674000	0.83992	2.764000	0.94973	0.650000	0.86243	CCA		PASS	0.299	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		52	116	52	116	---	---	---	---
CNBP	7555	broad.mit.edu	37	3	128890383	128890383	+	Splice_Site	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:128890383T>C	ENST00000422453.2	-	3	285		c.e3-2		CNBP_ENST00000500450.2_Intron|CNBP_ENST00000446936.2_Splice_Site|CNBP_ENST00000502976.1_Splice_Site|CNBP_ENST00000504813.1_Intron|CNBP_ENST00000441626.2_Splice_Site|CNBP_ENST00000451728.2_Splice_Site	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein						cholesterol biosynthetic process (GO:0006695)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.?(1)		biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						ACTGGAAACCTGTTTTGAGCA	0.393																																						uc003elq.3																			1	Unknown(1)		lung(1)		0						c.e3-1		zinc finger protein 9 isoform 3							85.0	79.0	81.0					3																	128890383		2203	4300	6503	SO:0001630	splice_region_variant	7555				cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:128890383T>C	U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29				"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCHC domain containing"""	13164	protein-coding gene	gene with protein product		116955	"""zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)"", ""zinc finger protein 9"""	DM2, ZNF9		2249857, 11486088	Standard	NM_003418		Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.125-2A>G	3.37:g.128890383T>C						CNBP_uc003elr.3_Splice_Site_p.G35_splice|CNBP_uc011bku.1_Intron	p.G42_splice	NM_003418	NP_003409	P62633	CNBP_HUMAN			3	331	-								A8K7V4|B2RAV9|B4DP17|D3DNB9|D3DNC0|D3DNC1|E9PDR7|P20694|Q4JGY0|Q4JGY1|Q5QJR0|Q5U0E9|Q6PJI7|Q96NV3	Splice_Site	SNP	ENST00000422453.2	37	c.125_splice	CCDS3056.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.702365	0.48307	.	.	ENSG00000169714	ENST00000502976;ENST00000422453;ENST00000451728;ENST00000446936;ENST00000441626;ENST00000512338	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6705	0.62422	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CNBP	130373073	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.457000	0.53007	2.129000	0.65627	0.383000	0.25322	.		PASS	0.393	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	NM_003418	Intron	22	53	22	53	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134967229	134967229	+	Silent	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:134967229C>A	ENST00000398015.3	+	14	2938	c.2568C>A	c.(2566-2568)ctC>ctA	p.L856L	EPHB1_ENST00000493838.1_Silent_p.L417L	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	856	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.L856L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TACACCAGCTCATGCTGGACT	0.572																																						uc003eqt.2																			2	Substitution - coding silent(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(2566-2568)CTC>CTA		ephrin receptor EphB1 precursor							59.0	64.0	62.0					3																	134967229		2203	4300	6503	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134967229C>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2568C>A	3.37:g.134967229C>A						EPHB1_uc003equ.2_Silent_p.L417L	p.L856L	NM_004441	NP_004432	P54762	EPHB1_HUMAN			14	2788	+			856			Cytoplasmic (Potential).|Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.2568C>A	CCDS46921.1																																																																																				PASS	0.572	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		37	60	37	60	---	---	---	---
ARMC8	25852	broad.mit.edu	37	3	137907372	137907372	+	Intron	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:137907372G>A	ENST00000469044.1	+	1	316				ARMC8_ENST00000485396.1_Intron|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000481646.1_Splice_Site_p.M1I|ARMC8_ENST00000358441.2_Splice_Site_p.M1I|ARMC8_ENST00000470821.1_Intron|ARMC8_ENST00000471453.1_Splice_Site_p.M1I|ARMC8_ENST00000489213.1_Intron|ARMC8_ENST00000491704.1_5'UTR|ARMC8_ENST00000393058.3_Intron|ARMC8_ENST00000538260.1_Intron	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8									p.M1I(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						ctctgagaatggtcagtttac	0.418																																						uc003esa.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1-3)ATG>ATA		armadillo repeat containing 8 isoform 2							166.0	156.0	159.0					3																	137907372		2203	4300	6503	SO:0001627	intron_variant	25852						binding	g.chr3:137907372G>A		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.45+931G>A	3.37:g.137907372G>A						ARMC8_uc003erw.2_Missense_Mutation_p.M1I|ARMC8_uc003erx.2_Missense_Mutation_p.M1I|ARMC8_uc003ery.2_5'UTR|ARMC8_uc003erz.2_Intron|ARMC8_uc011bmf.1_Intron|ARMC8_uc011bmg.1_Intron|ARMC8_uc011bmh.1_Intron|ARMC8_uc003esb.1_5'UTR	p.M1I	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN			2	370	+			Error:Variant_position_missing_in_Q8IUR7_after_alignment					A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37	c.3G>A		.	.	.	.	.	.	.	.	.	.	G	14.35	2.509838	0.44660	.	.	ENSG00000114098	ENST00000481646;ENST00000358441;ENST00000471453;ENST00000468560	T;T;T	0.55930	0.49;2.38;2.38	3.87	-1.96	0.07525	.	.	.	.	.	T	0.33760	0.0874	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21759	-1.0236	8	0.51188	T	0.08	.	3.7897	0.08715	0.5187:0.0:0.3032:0.1781	.	1;1	Q8IUR7-2;Q8IUR7-6	.;.	I	1	ENSP00000420333:M1I;ENSP00000351221:M1I;ENSP00000420440:M1I	ENSP00000351221:M1I	M	+	3	0	ARMC8	139390062	0.000000	0.05858	0.000000	0.03702	0.470000	0.32858	-0.714000	0.05002	-0.409000	0.07553	0.591000	0.81541	ATG		PASS	0.418	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		37	99	37	99	---	---	---	---
CHST2	9435	broad.mit.edu	37	3	142840794	142840794	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:142840794A>G	ENST00000309575.3	+	2	2520	c.1136A>G	c.(1135-1137)aAg>aGg	p.K379R		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	379					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.K379R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CTTGGCGCCAAGAAGGAGGGC	0.662																																						uc003evm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1135-1137)AAG>AGG		carbohydrate (N-acetylglucosamine-6-O)							30.0	37.0	35.0					3																	142840794		2202	4297	6499	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840794A>G	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1136A>G	3.37:g.142840794A>G	ENSP00000307911:p.Lys379Arg						p.K379R	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN			2	2025	+			379			Lumenal (Potential).		D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.1136A>G	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.526643	0.44969	.	.	ENSG00000175040	ENST00000309575	D	0.96232	-3.95	4.47	3.29	0.37713	Sulfotransferase domain (1);	0.000000	0.39274	N	0.001415	D	0.91727	0.7384	L	0.27053	0.805	0.42929	D	0.994319	P	0.41748	0.761	B	0.40165	0.321	D	0.88512	0.3090	10	0.30078	T	0.28	-5.1074	11.1758	0.48598	0.8455:0.1545:0.0:0.0	.	379	Q9Y4C5	CHST2_HUMAN	R	379	ENSP00000307911:K379R	ENSP00000307911:K379R	K	+	2	0	CHST2	144323484	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	4.027000	0.57239	0.726000	0.32339	0.334000	0.21626	AAG		PASS	0.662	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		19	61	19	61	---	---	---	---
SERP1	27230	broad.mit.edu	37	3	150263884	150263884	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:150263884C>A	ENST00000479209.1	-	2	1311	c.39G>T	c.(37-39)aaG>aaT	p.K13N	SERP1_ENST00000487153.1_Missense_Mutation_p.K13N|EIF2A_ENST00000460851.1_5'Flank|EIF2A_ENST00000273435.5_5'Flank|EIF2A_ENST00000406576.3_5'Flank|EIF2A_ENST00000487799.1_5'Flank|SERP1_ENST00000491660.1_Missense_Mutation_p.K13N|SERP1_ENST00000239944.2_Missense_Mutation_p.K13N			Q9Y6X1	SERP1_HUMAN	stress-associated endoplasmic reticulum protein 1	13					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucose metabolic process (GO:0006006)|multicellular organismal aging (GO:0010259)|muscle organ morphogenesis (GO:0048644)|plasma membrane organization (GO:0007009)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of organ growth (GO:0046622)|positive regulation of translation (GO:0045727)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|ribosome (GO:0005840)		p.K13N(2)		large_intestine(1)|lung(3)	4			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCTTGCTGTGCTTCTCGTTGG	0.662																																						uc003exy.2																			2	Substitution - Missense(2)		lung(2)		0						c.(37-39)AAG>AAT		stress-associated endoplasmic reticulum protein							202.0	147.0	165.0					3																	150263884		2203	4300	6503	SO:0001583	missense	27230				plasma membrane organization|protein glycosylation|protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane|ribosome		g.chr3:150263884C>A	AK125413	CCDS3150.1	3q25.1	2007-12-07	2007-12-07		ENSG00000120742	ENSG00000120742			10759	protein-coding gene	gene with protein product	"""ribosome associated membrane protein 4"""					10601334, 11230166	Standard	NM_014445		Approved	RAMP4, FLJ43424	uc003exy.3	Q9Y6X1	OTTHUMG00000159769	ENST00000479209.1:c.39G>T	3.37:g.150263884C>A	ENSP00000420076:p.Lys13Asn					SERP1_uc003exz.2_RNA|EIF2A_uc003eya.2_5'Flank|EIF2A_uc003eyb.2_5'Flank|EIF2A_uc003eyc.2_5'Flank|EIF2A_uc011bnv.1_5'Flank|EIF2A_uc011bnw.1_5'Flank	p.K13N	NM_014445	NP_055260	Q9Y6X1	SERP1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		1	545	-			13			Cytoplasmic (Potential).		D3DNI6	Missense_Mutation	SNP	ENST00000479209.1	37	c.39G>T	CCDS3150.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774933	0.49786	.	.	ENSG00000120742	ENST00000239944;ENST00000479209;ENST00000487153;ENST00000491660	.	.	.	4.52	2.72	0.32119	.	0.000000	0.85682	D	0.000000	T	0.69513	0.3119	.	.	.	0.58432	D	0.999999	D	0.63880	0.993	D	0.63113	0.911	T	0.68988	-0.5264	8	0.56958	D	0.05	.	9.2318	0.37441	0.0:0.8195:0.0:0.1805	.	13	Q9Y6X1	SERP1_HUMAN	N	13	.	ENSP00000239944:K13N	K	-	3	2	SERP1	151746574	1.000000	0.71417	0.999000	0.59377	0.848000	0.48234	1.100000	0.31025	0.531000	0.28639	0.563000	0.77884	AAG		PASS	0.662	SERP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357239.1	NM_014445		36	92	36	92	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155232542	155232542	+	Silent	SNP	C	C	A	rs200928567		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:155232542C>A	ENST00000340059.7	-	11	1565	c.1566G>T	c.(1564-1566)acG>acT	p.T522T	PLCH1_ENST00000460012.1_Silent_p.T504T|PLCH1_ENST00000414191.1_Silent_p.T504T|PLCH1_ENST00000447496.2_Silent_p.T522T|PLCH1_ENST00000334686.6_Silent_p.T504T|PLCH1_ENST00000494598.1_Silent_p.T522T	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	522					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.T504T(1)|p.T522T(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCCTTCATGCGTGGCCTTCA	0.388																																						uc011bok.1																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(1)	4						c.(1564-1566)ACG>ACT		phospholipase C eta 1 isoform a							96.0	85.0	89.0					3																	155232542		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155232542C>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1566G>T	3.37:g.155232542C>A						PLCH1_uc011boj.1_Silent_p.T522T|PLCH1_uc011bol.1_Silent_p.T504T	p.T522T	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		11	1843	-			522					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.1566G>T	CCDS46939.1																																																																																				PASS	0.388	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		49	76	49	76	---	---	---	---
SI	6476	broad.mit.edu	37	3	164764764	164764764	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:164764764G>C	ENST00000264382.3	-	16	1814	c.1752C>G	c.(1750-1752)ttC>ttG	p.F584L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	584	Isomaltase.			F -> L (in Ref. 3; AAI15035). {ECO:0000305}.	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.F584L(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)	GGGTAAGAATGAAGCTTCTCT	0.323										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(1750-1752)TTC>TTG		sucrase-isomaltase	Acarbose(DB00284)						61.0	60.0	61.0					3																	164764764		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.chr3:164764764G>C	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.1752C>G	3.37:g.164764764G>C	ENSP00000264382:p.Phe584Leu	HNSCC(35;0.089)					p.F584L	NM_001041	NP_001032	P14410	SUIS_HUMAN			16	1814	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	584	F -> L (in Ref. 3; AAI15035).		Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1752C>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393835	0.42410	.	.	ENSG00000090402	ENST00000264382	D	0.92199	-2.99	5.36	2.32	0.28847	Glycoside hydrolase, superfamily (1);	0.189071	0.47093	D	0.000243	D	0.89945	0.6862	M	0.71206	2.165	0.30196	N	0.799105	B	0.23058	0.079	B	0.32149	0.141	D	0.84668	0.0710	10	0.46703	T	0.11	.	6.5913	0.22647	0.486:0.0:0.514:0.0	.	584	P14410	SUIS_HUMAN	L	584	ENSP00000264382:F584L	ENSP00000264382:F584L	F	-	3	2	SI	166247458	0.998000	0.40836	1.000000	0.80357	0.875000	0.50365	0.396000	0.20867	0.519000	0.28406	0.467000	0.42956	TTC		PASS	0.323	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		10	62	10	62	---	---	---	---
BCHE	590	broad.mit.edu	37	3	165547903	165547903	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:165547903C>T	ENST00000264381.3	-	2	1085	c.919G>A	c.(919-921)Gtt>Att	p.V307I	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	307					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.V307I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TAGGGGACAACAAATGCTTCA	0.393																																						uc003fem.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(919-921)GTT>ATT		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						50.0	54.0	53.0					3																	165547903		2202	4299	6501	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547903C>T	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.919G>A	3.37:g.165547903C>T	ENSP00000264381:p.Val307Ile					BCHE_uc003fen.3_Intron	p.V307I	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	1079	-			307					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.919G>A	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	6.493	0.459187	0.12342	.	.	ENSG00000114200	ENST00000264381	T	0.68181	-0.31	5.42	3.29	0.37713	Carboxylesterase, type B (1);	0.181464	0.47852	N	0.000220	T	0.60327	0.2260	L	0.55743	1.74	0.54753	D	0.999982	B	0.02656	0.0	B	0.13407	0.009	T	0.60301	-0.7290	10	0.46703	T	0.11	.	12.0314	0.53399	0.0:0.8331:0.0:0.1669	.	307	P06276	CHLE_HUMAN	I	307	ENSP00000264381:V307I	ENSP00000264381:V307I	V	-	1	0	BCHE	167030597	0.010000	0.17322	0.872000	0.34217	0.089000	0.18198	0.895000	0.28363	1.296000	0.44742	0.655000	0.94253	GTT		PASS	0.393	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			19	72	19	72	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178936099	178936099	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:178936099G>C	ENST00000263967.3	+	10	1798	c.1641G>C	c.(1639-1641)gaG>gaC	p.E547D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	547	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E547D(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CTGAGCAGGAGAAAGATTTTC	0.363		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		2	Substitution - Missense(2)	p.E547K(1)	lung(2)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1639-1641)GAG>GAC		phosphoinositide-3-kinase, catalytic, alpha							62.0	62.0	62.0					3																	178936099		1812	4069	5881	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936099G>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1641G>C	3.37:g.178936099G>C	ENSP00000263967:p.Glu547Asp	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E547D	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1798	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		547			PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1641G>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.394344	0.42410	.	.	ENSG00000121879	ENST00000263967	T	0.68479	-0.33	5.78	0.949	0.19566	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	L	0.28115	0.83	0.58432	D	0.999999	B	0.32893	0.389	B	0.32090	0.14	T	0.27502	-1.0072	10	0.07325	T	0.83	-14.9038	9.8399	0.40993	0.4921:0.0:0.5079:0.0	.	547	P42336	PK3CA_HUMAN	D	547	ENSP00000263967:E547D	ENSP00000263967:E547D	E	+	3	2	PIK3CA	180418793	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	1.678000	0.37586	0.314000	0.23086	0.467000	0.42956	GAG		PASS	0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			39	63	39	63	---	---	---	---
CPN2	1370	broad.mit.edu	37	3	194062093	194062093	+	Missense_Mutation	SNP	C	C	T	rs200363479		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr3:194062093C>T	ENST00000323830.3	-	2	1428	c.1339G>A	c.(1339-1341)Gtc>Atc	p.V447I	CPN2_ENST00000429275.1_Missense_Mutation_p.V447I	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	447	LRRCT.				protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)	p.V447I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TCCCGGGTGACGGGACACACC	0.647																																						uc003fts.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1339-1341)GTC>ATC		carboxypeptidase N, polypeptide 2		T	ILE/VAL	0,4406		0,0,2203	61.0	64.0	63.0		1339	2.7	0.0	3		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	CPN2	NM_001080513.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	447/546	194062093	1,13005	2203	4300	6503	SO:0001583	missense	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194062093C>T	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1339G>A	3.37:g.194062093C>T	ENSP00000319464:p.Val447Ile						p.V447I	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	1429	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		447			LRRCT.		B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	37	c.1339G>A	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	c	3.265	-0.150253	0.06585	0.0	1.16E-4	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.53640	0.61;0.61	5.56	2.66	0.31614	.	1.339810	0.05495	N	0.557441	T	0.37785	0.1016	L	0.46157	1.445	0.09310	N	1	B	0.22541	0.071	B	0.12156	0.007	T	0.26643	-1.0097	10	0.07813	T	0.8	.	7.4708	0.27347	0.0:0.7155:0.1359:0.1487	.	447	P22792	CPN2_HUMAN	I	447	ENSP00000319464:V447I;ENSP00000402232:V447I	ENSP00000319464:V447I	V	-	1	0	CPN2	195543788	0.000000	0.05858	0.001000	0.08648	0.330000	0.28571	0.053000	0.14184	0.848000	0.35191	-0.119000	0.15052	GTC		PASS	0.647	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		16	110	16	110	---	---	---	---
HTRA3	94031	broad.mit.edu	37	4	8294050	8294050	+	Nonsense_Mutation	SNP	C	C	A	rs367887152		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr4:8294050C>A	ENST00000307358.2	+	5	1110	c.906C>A	c.(904-906)taC>taA	p.Y302*	HTRA3_ENST00000382512.3_Nonsense_Mutation_p.Y302*	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	302	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.Y302*(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						CCTTGCAGTACGGGAACTCCG	0.572																																						uc003gla.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(904-906)TAC>TAA		HtrA serine peptidase 3 precursor							99.0	86.0	91.0					4																	8294050		2203	4300	6503	SO:0001587	stop_gained	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8294050C>A	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.906C>A	4.37:g.8294050C>A	ENSP00000303766:p.Tyr302*					HTRA3_uc003gkz.2_Nonsense_Mutation_p.Y302*	p.Y302*	NM_053044	NP_444272	P83110	HTRA3_HUMAN			5	1110	+			302			Serine protease.		Q7Z7A2	Nonsense_Mutation	SNP	ENST00000307358.2	37	c.906C>A	CCDS3400.1	.	.	.	.	.	.	.	.	.	.	C	36	5.915871	0.97099	.	.	ENSG00000170801	ENST00000307358;ENST00000382512	.	.	.	4.01	1.75	0.24633	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4573	4.5874	0.12289	0.0:0.3746:0.0:0.6254	.	.	.	.	X	302	.	ENSP00000303766:Y302X	Y	+	3	2	HTRA3	8344950	0.537000	0.26386	1.000000	0.80357	0.922000	0.55478	-0.372000	0.07504	0.644000	0.30656	0.455000	0.32223	TAC		PASS	0.572	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044		5	61	5	61	---	---	---	---
CPZ	8532	broad.mit.edu	37	4	8621111	8621111	+	Missense_Mutation	SNP	C	C	T	rs147183461		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr4:8621111C>T	ENST00000360986.4	+	11	1900	c.1726C>T	c.(1726-1728)Cgt>Tgt	p.R576C	CPZ_ENST00000382480.2_Missense_Mutation_p.R439C|CPZ_ENST00000429646.2_Missense_Mutation_p.R184C|CPZ_ENST00000315782.6_Missense_Mutation_p.R565C	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	576					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R576C(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAGGGCTGGCCGTGTGGACTT	0.592																																						uc003glm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1726-1728)CGT>TGT		carboxypeptidase Z isoform 1							58.0	53.0	55.0					4																	8621111		2203	4300	6503	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8621111C>T	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1726C>T	4.37:g.8621111C>T	ENSP00000354255:p.Arg576Cys					CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.R439C|CPZ_uc003glo.2_Missense_Mutation_p.R565C|CPZ_uc003glp.2_RNA	p.R576C	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN			11	1852	+			576					O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.1726C>T	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033041	0.75504	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782;ENST00000429646	T;T;T;T	0.25579	2.51;2.51;2.51;1.79	5.21	3.22	0.36961	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.64402	D	0.000001	T	0.55369	0.1916	M	0.89414	3.03	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.65026	-0.6268	10	0.66056	D	0.02	-23.5001	13.2004	0.59765	0.3352:0.6648:0.0:0.0	.	565;576	Q66K79-2;Q66K79	.;CBPZ_HUMAN	C	576;439;565;184	ENSP00000354255:R576C;ENSP00000371920:R439C;ENSP00000315074:R565C;ENSP00000403981:R184C	ENSP00000315074:R565C	R	+	1	0	CPZ	8672011	0.954000	0.32549	0.998000	0.56505	0.965000	0.64279	1.718000	0.38001	1.152000	0.42452	0.555000	0.69702	CGT		PASS	0.592	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		21	26	21	26	---	---	---	---
C1QTNF7	114905	broad.mit.edu	37	4	15443952	15443952	+	Silent	SNP	G	G	C	rs150846082		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr4:15443952G>C	ENST00000444304.2	+	3	725	c.399G>C	c.(397-399)ccG>ccC	p.P133P	C1QTNF7_ENST00000295297.4_Silent_p.P140P|C1QTNF7_ENST00000429690.1_Silent_p.P133P			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	133	Collagen-like.				protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)		p.P133P(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						AAGGGGACCCGGGGCTGCCTG	0.517																																						uc011bxb.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(397-399)CCG>CCC		C1q and tumor necrosis factor related protein 7		G	,,	0,4406		0,0,2203	155.0	163.0	160.0		420,399,399	-5.2	1.0	4	dbSNP_134	160	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	C1QTNF7	NM_001135170.1,NM_001135171.1,NM_031911.4	,,	0,3,6500	CC,CG,GG		0.0349,0.0,0.0231	,,	140/297,133/290,133/290	15443952	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	114905					collagen		g.chr4:15443952G>C	AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.399G>C	4.37:g.15443952G>C						C1QTNF7_uc003gno.2_Silent_p.P140P|C1QTNF7_uc003gnp.2_Silent_p.P133P	p.P133P	NM_001135171	NP_001128643	Q9BXJ2	C1QT7_HUMAN			3	626	+			133			Collagen-like.		B2RBT3|J3KPW3	Silent	SNP	ENST00000444304.2	37	c.399G>C	CCDS3414.1																																																																																				PASS	0.517	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2			89	126	89	126	---	---	---	---
LDB2	9079	broad.mit.edu	37	4	16597389	16597389	+	Silent	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr4:16597389G>C	ENST00000304523.5	-	3	668	c.345C>G	c.(343-345)tcC>tcG	p.S115S	LDB2_ENST00000503178.2_5'UTR|LDB2_ENST00000515064.1_Silent_p.S115S|LDB2_ENST00000502640.1_Silent_p.S115S|LDB2_ENST00000441778.2_Silent_p.S115S|LDB2_ENST00000503829.1_5'UTR	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	115					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)	p.S115S(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CCACCGTGATGGATGAGTTGT	0.527																																						uc003goz.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(343-345)TCC>TCG		LIM domain binding 2 isoform a							177.0	142.0	154.0					4																	16597389		2203	4300	6503	SO:0001819	synonymous_variant	9079						LIM domain binding|transcription cofactor activity	g.chr4:16597389G>C	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.345C>G	4.37:g.16597389G>C						LDB2_uc003gpa.2_Silent_p.S115S|LDB2_uc003gpb.2_Silent_p.S115S|LDB2_uc011bxh.1_Silent_p.S115S|LDB2_uc010iee.2_Silent_p.S115S|LDB2_uc003goy.2_5'UTR|LDB2_uc011bxi.1_5'UTR	p.S115S	NM_001290	NP_001281	O43679	LDB2_HUMAN			3	661	-			115					O60619|O75480	Silent	SNP	ENST00000304523.5	37	c.345C>G	CCDS3420.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.233480	0.22626	.	.	ENSG00000169744	ENST00000507464	.	.	.	5.6	4.71	0.59529	.	.	.	.	.	T	0.71264	0.3319	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69068	-0.5243	4	.	.	.	-19.4949	15.5667	0.76298	0.0:0.0:0.8623:0.1377	.	.	.	.	R	37	.	.	P	-	2	0	LDB2	16206487	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.398000	0.59697	2.793000	0.96121	0.563000	0.77884	CCA		PASS	0.527	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			13	98	13	98	---	---	---	---
PGM2	55276	broad.mit.edu	37	4	37831659	37831659	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr4:37831659G>C	ENST00000381967.4	+	2	255	c.155G>C	c.(154-156)gGg>gCg	p.G52A	PGM2_ENST00000537241.1_5'UTR|PGM2_ENST00000544359.1_5'UTR	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	52					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)	p.G52A(1)		breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						AAATGTTTTGGGGCCCGAATG	0.433																																						uc011byb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(154-156)GGG>GCG		phosphoglucomutase 2							77.0	81.0	80.0					4																	37831659		2203	4300	6503	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37831659G>C	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.155G>C	4.37:g.37831659G>C	ENSP00000371393:p.Gly52Ala					PGM2_uc011bya.1_5'UTR|PGM2_uc011byc.1_5'UTR	p.G52A	NM_018290	NP_060760	Q96G03	PGM2_HUMAN			2	228	+			52					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.155G>C	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628620	0.28978	.	.	ENSG00000169299	ENST00000381967	T	0.61980	0.06	5.64	5.64	0.86602	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.173386	0.49916	D	0.000138	T	0.58004	0.2092	L	0.49455	1.56	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.53265	-0.8463	10	0.16896	T	0.51	-1.3621	19.316	0.94213	0.0:0.0:1.0:0.0	.	52	Q96G03	PGM2_HUMAN	A	52	ENSP00000371393:G52A	ENSP00000371393:G52A	G	+	2	0	PGM2	37508054	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	6.999000	0.76283	2.651000	0.90000	0.650000	0.86243	GGG		PASS	0.433	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		23	30	23	30	---	---	---	---
KLHL5	51088	broad.mit.edu	37	4	39082828	39082828	+	Silent	SNP	G	G	A	rs143433133	byFrequency	TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr4:39082828G>A	ENST00000504108.1	+	3	1093	c.810G>A	c.(808-810)tcG>tcA	p.S270S	KLHL5_ENST00000359687.2_Silent_p.S270S|KLHL5_ENST00000261425.3_Silent_p.S224S|KLHL5_ENST00000381930.3_Silent_p.S270S|KLHL5_ENST00000508137.2_Silent_p.S83S|KLHL5_ENST00000261426.5_Silent_p.S209S	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	270	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.S270S(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						AACCAAATTCGTTGTGGTCCT	0.353													A|||	3	0.000599042	0.0008	0.0029	5008	,	,		17613	0.0		0.0	False		,,,				2504	0.0					uc003gts.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(808-810)TCG>TCA		kelch-like 5 isoform 1		A	,,,	0,4406		0,0,2203	112.0	109.0	110.0		672,249,810,627	-3.5	0.9	4	dbSNP_134	110	6,8594	818.8+/-406.8	0,6,4294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KLHL5	NM_001007075.2,NM_001171654.1,NM_015990.4,NM_199039.3	,,,	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	,,,	224/710,83/569,270/756,209/695	39082828	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39082828G>A	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.810G>A	4.37:g.39082828G>A						KLHL5_uc003gtp.2_Silent_p.S224S|KLHL5_uc003gtq.2_Silent_p.S83S|KLHL5_uc003gtr.1_Silent_p.S270S|KLHL5_uc003gtt.2_Silent_p.S209S	p.S270S	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN			3	885	+			270			BTB.		A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Silent	SNP	ENST00000504108.1	37	c.810G>A	CCDS33974.1																																																																																				PASS	0.353	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			26	27	26	27	---	---	---	---
KLB	152831	broad.mit.edu	37	4	39436041	39436041	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr4:39436041A>T	ENST00000257408.4	+	2	1134	c.1037A>T	c.(1036-1038)aAg>aTg	p.K346M		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	346	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.K346M(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GGGATGAGAAAGAAGTTGTTC	0.448																																						uc003gua.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1036-1038)AAG>ATG		klotho beta							135.0	129.0	131.0					4																	39436041		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39436041A>T	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1037A>T	4.37:g.39436041A>T	ENSP00000257408:p.Lys346Met					KLB_uc011byj.1_Missense_Mutation_p.K346M	p.K346M	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN			2	1134	+			346			Extracellular (Potential).|Glycosyl hydrolase-1 1.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.1037A>T	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	A	9.011	0.982578	0.18889	.	.	ENSG00000134962	ENST00000257408	T	0.32988	1.43	5.8	-1.48	0.08745	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.721233	0.13176	N	0.407895	T	0.33731	0.0873	M	0.65975	2.015	0.09310	N	1	P;P	0.49696	0.927;0.927	P;P	0.51415	0.669;0.669	T	0.17077	-1.0381	10	0.46703	T	0.11	-3.4938	2.678	0.05085	0.3917:0.3626:0.1328:0.1129	.	346;346	B7ZL50;Q86Z14	.;KLOTB_HUMAN	M	346	ENSP00000257408:K346M	ENSP00000257408:K346M	K	+	2	0	KLB	39112436	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	0.177000	0.16801	-0.116000	0.11893	0.460000	0.39030	AAG		PASS	0.448	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		44	42	44	42	---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47570958	47570958	+	Silent	SNP	T	T	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr4:47570958T>G	ENST00000273859.3	+	16	3227	c.2958T>G	c.(2956-2958)ccT>ccG	p.P986P		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	986					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.P986P(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTCAGCCTCCTGTCCCCCGGG	0.488																																						uc003gxk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2956-2958)CCT>CCG		ATPase, class V, type 10D							72.0	78.0	76.0					4																	47570958		2203	4300	6503	SO:0001819	synonymous_variant	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47570958T>G	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2958T>G	4.37:g.47570958T>G						ATP10D_uc003gxl.1_Silent_p.P234P	p.P986P	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			16	3122	+			986			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	ENST00000273859.3	37	c.2958T>G	CCDS3476.1																																																																																				PASS	0.488	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		57	40	57	40	---	---	---	---
TMPRSS11E	28983	broad.mit.edu	37	4	69342005	69342005	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr4:69342005C>G	ENST00000305363.4	+	7	620	c.556C>G	c.(556-558)Cta>Gta	p.L186V		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	186					cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.L186I(1)|p.L186V(1)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AAGTAAAACTCTAGGTCAGAG	0.517																																						uc003hdz.3																			2	Substitution - Missense(2)		lung(1)|endometrium(1)								c.(556-558)CTA>GTA		transmembrane protease, serine 11E							151.0	156.0	154.0					4																	69342005		2203	4300	6503	SO:0001583	missense	0							g.chr4:69342005C>G	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.556C>G	4.37:g.69342005C>G	ENSP00000307519:p.Leu186Val						p.L186V	NM_014058	NP_054777					7	620	+								A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	c.556C>G	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	C	4.351	0.064655	0.08388	.	.	ENSG00000087128	ENST00000305363	D	0.88277	-2.36	5.56	-11.1	0.00147	Peptidase cysteine/serine, trypsin-like (1);	1.480890	0.04436	N	0.370051	T	0.68531	0.3011	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58381	-0.7646	10	0.16896	T	0.51	.	3.5751	0.07932	0.2003:0.1571:0.4332:0.2093	.	186	Q9UL52	TM11E_HUMAN	V	186	ENSP00000307519:L186V	ENSP00000307519:L186V	L	+	1	2	TMPRSS11E	69024600	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.876000	0.00717	-2.454000	0.00540	-0.397000	0.06425	CTA		PASS	0.517	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		82	90	82	90	---	---	---	---
ENAM	10117	broad.mit.edu	37	4	71509533	71509533	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr4:71509533C>A	ENST00000396073.3	+	9	2671	c.2390C>A	c.(2389-2391)cCa>cAa	p.P797Q	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	797					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.P797Q(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CAAAAAGCCCCAGCTAGGCCA	0.463																																						uc011caw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2389-2391)CCA>CAA		enamelin precursor							84.0	87.0	86.0					4																	71509533		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71509533C>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2390C>A	4.37:g.71509533C>A	ENSP00000379383:p.Pro797Gln						p.P797Q	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	2671	+			797					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.2390C>A	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	8.358	0.832423	0.16820	.	.	ENSG00000132464	ENST00000396073	T	0.32023	1.47	4.97	4.12	0.48240	.	0.592170	0.15476	N	0.260354	T	0.56171	0.1967	M	0.84683	2.71	0.09310	N	1	D	0.65815	0.995	D	0.72625	0.978	T	0.47005	-0.9150	10	0.54805	T	0.06	-1.8355	9.7785	0.40634	0.0:0.9003:0.0:0.0997	.	797	Q9NRM1	ENAM_HUMAN	Q	797	ENSP00000379383:P797Q	ENSP00000379383:P797Q	P	+	2	0	ENAM	71728397	0.003000	0.15002	0.057000	0.19452	0.095000	0.18619	0.925000	0.28791	2.306000	0.77630	0.655000	0.94253	CCA		PASS	0.463	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		26	34	26	34	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123175391	123175391	+	Silent	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr4:123175391T>C	ENST00000264501.4	+	38	6337	c.5964T>C	c.(5962-5964)ccT>ccC	p.P1988P	KIAA1109_ENST00000388738.3_Silent_p.P1988P|KIAA1109_ENST00000455637.1_Silent_p.P1988P			Q2LD37	K1109_HUMAN	KIAA1109	1988					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P1988P(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAGATCTACCTCTGATGCCTC	0.378																																						uc003ieh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(5962-5964)CCT>CCC		fragile site-associated protein							128.0	114.0	119.0					4																	123175391		1857	4092	5949	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123175391T>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.5964T>C	4.37:g.123175391T>C						KIAA1109_uc003iel.1_5'Flank|KIAA1109_uc003iek.2_Silent_p.P607P	p.P1988P	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			36	6009	+			1988					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.5964T>C	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	T	9.896	1.205644	0.22205	.	.	ENSG00000138688	ENST00000446180	.	.	.	5.6	3.11	0.35812	.	.	.	.	.	T	0.45418	0.1341	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30966	-0.9960	4	.	.	.	.	2.3383	0.04253	0.1247:0.1384:0.1298:0.6071	.	.	.	.	P	561	.	.	L	+	2	0	KIAA1109	123394841	0.999000	0.42202	0.992000	0.48379	0.992000	0.81027	0.481000	0.22260	0.386000	0.24997	0.482000	0.46254	CTC		PASS	0.378	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		3	66	3	66	---	---	---	---
RAB33B	83452	broad.mit.edu	37	4	140393857	140393857	+	Silent	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr4:140393857A>T	ENST00000305626.5	+	2	656	c.267A>T	c.(265-267)acA>acT	p.T89T		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	89					autophagy (GO:0006914)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of retrograde vesicle-mediated transport, Golgi to ER (GO:2000156)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.T89T(1)		large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					TATGGGACACAGCAGGACAAG	0.378																																						uc003ihv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(265-267)ACA>ACT		RAB33B, member RAS oncogene family							98.0	80.0	86.0					4																	140393857		2203	4300	6503	SO:0001819	synonymous_variant	83452				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr4:140393857A>T	AF350420	CCDS3747.1	4q28	2008-02-05			ENSG00000172007	ENSG00000172007		"""RAB, member RAS oncogene"""	16075	protein-coding gene	gene with protein product		605950					Standard	NM_031296		Approved	DKFZP434G099	uc003ihv.3	Q9H082	OTTHUMG00000133384	ENST00000305626.5:c.267A>T	4.37:g.140393857A>T							p.T89T	NM_031296	NP_112586	Q9H082	RB33B_HUMAN			2	656	+	all_hematologic(180;0.162)		89			GTP (By similarity).		B2R987|Q4W5B0	Silent	SNP	ENST00000305626.5	37	c.267A>T	CCDS3747.1																																																																																				PASS	0.378	RAB33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257235.2	NM_031296		7	55	7	55	---	---	---	---
HHIP	64399	broad.mit.edu	37	4	145567964	145567964	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr4:145567964A>G	ENST00000296575.3	+	1	792	c.137A>G	c.(136-138)aAg>aGg	p.K46R	HHIP_ENST00000434550.2_Missense_Mutation_p.K46R|HHIP-AS1_ENST00000503066.1_RNA|HHIP-AS1_ENST00000512359.1_RNA|HHIP-AS1_ENST00000508269.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	46	Arg-rich.				carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)	p.K46R(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AACCCCCCGAAGCGCCTGAAA	0.592																																						uc003ijs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(136-138)AAG>AGG		hedgehog-interacting protein precursor							75.0	84.0	81.0					4																	145567964		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145567964A>G	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.137A>G	4.37:g.145567964A>G	ENSP00000296575:p.Lys46Arg					uc003ijq.1_5'Flank|HHIP_uc003ijr.1_Missense_Mutation_p.K46R	p.K46R	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	1	792	+	all_hematologic(180;0.151)		46			Arg-rich.		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.137A>G	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	A	8.979	0.974778	0.18736	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.79454	-1.27;-1.27	5.11	2.69	0.31865	Folate receptor-like (1);	0.360724	0.29916	N	0.010862	T	0.47040	0.1424	N	0.03177	-0.4	0.27748	N	0.944263	B;B	0.11235	0.0;0.004	B;B	0.11329	0.001;0.006	T	0.35375	-0.9791	10	0.07175	T	0.84	-8.9519	5.396	0.16268	0.5961:0.0:0.4039:0.0	.	46;46	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	R	46	ENSP00000296575:K46R;ENSP00000408587:K46R	ENSP00000296575:K46R	K	+	2	0	HHIP	145787414	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.216000	0.42871	0.779000	0.33543	0.528000	0.53228	AAG		PASS	0.592	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			24	42	24	42	---	---	---	---
GUCY1B3	2983	broad.mit.edu	37	4	156721210	156721210	+	Missense_Mutation	SNP	A	A	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr4:156721210A>C	ENST00000264424.8	+	9	1241	c.1159A>C	c.(1159-1161)Aag>Cag	p.K387Q	GUCY1B3_ENST00000503520.1_Missense_Mutation_p.K387Q|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.K367Q|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.K319Q|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.K409Q|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.K319Q|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.K319Q	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	387					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.K387Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GGAAGATGAAAAGAAAAAGAC	0.383																																						uc003ipc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1159-1161)AAG>CAG		guanylate cyclase 1, soluble, beta 3							91.0	89.0	90.0					4																	156721210		1895	4117	6012	SO:0001583	missense	2983				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	g.chr4:156721210A>C	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1159A>C	4.37:g.156721210A>C	ENSP00000264424:p.Lys387Gln					GUCY1B3_uc011cio.1_Missense_Mutation_p.K409Q|GUCY1B3_uc011cip.1_Missense_Mutation_p.K367Q|GUCY1B3_uc003ipd.2_Missense_Mutation_p.K315Q|GUCY1B3_uc010iqf.2_Missense_Mutation_p.K387Q|GUCY1B3_uc010iqg.2_Missense_Mutation_p.K315Q|GUCY1B3_uc011ciq.1_Missense_Mutation_p.K315Q	p.K387Q	NM_000857	NP_000848	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	9	1326	+	all_hematologic(180;0.24)	Renal(120;0.0854)	387					B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	c.1159A>C	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.412891	0.83340	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	D;D;D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95;-2.95;-2.95	6.02	6.02	0.97574	Haem NO binding associated (1);Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.94886	0.8347	M	0.64630	1.985	0.58432	D	0.999999	D;D;D;D;D	0.71674	0.99;0.99;0.995;0.969;0.998	P;P;D;P;D	0.64237	0.876;0.903;0.913;0.728;0.923	D	0.94903	0.8058	10	0.56958	D	0.05	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	367;409;319;387;387	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	Q	319;409;367;319;387;387;319	ENSP00000427226:K319Q;ENSP00000426786:K409Q;ENSP00000426319:K367Q;ENSP00000422313:K319Q;ENSP00000264424:K387Q;ENSP00000420842:K387Q;ENSP00000425065:K319Q	ENSP00000264424:K387Q	K	+	1	0	GUCY1B3	156940660	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.311000	0.77944	0.533000	0.62120	AAG		PASS	0.383	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2			7	41	7	41	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177072999	177072999	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr4:177072999A>G	ENST00000280190.4	+	18	2569	c.2413A>G	c.(2413-2415)Aaa>Gaa	p.K805E	WDR17_ENST00000508596.1_Missense_Mutation_p.K781E|WDR17_ENST00000507824.2_Missense_Mutation_p.K788E|WDR17_ENST00000393643.2_Missense_Mutation_p.K781E			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	805								p.K805E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CAAGATGTCTAAATTTGGTGG	0.338																																						uc003iuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(2413-2415)AAA>GAA		WD repeat domain 17 isoform 1							108.0	110.0	109.0					4																	177072999		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177072999A>G	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2413A>G	4.37:g.177072999A>G	ENSP00000280190:p.Lys805Glu					WDR17_uc003iuk.2_Missense_Mutation_p.K781E|WDR17_uc003ium.3_Missense_Mutation_p.K781E|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.K24E	p.K805E	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	18	2569	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	805					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.2413A>G	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.517796	0.85495	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.59224	0.33;0.34;0.28	5.55	5.55	0.83447	.	0.050808	0.85682	D	0.000000	T	0.70570	0.3239	M	0.74881	2.28	0.58432	D	0.999998	D;D;D	0.64830	0.994;0.983;0.983	P;P;P	0.54629	0.757;0.659;0.659	T	0.75323	-0.3358	10	0.72032	D	0.01	-27.34	15.74	0.77887	1.0:0.0:0.0:0.0	.	781;781;805	E7EP77;E7EQX0;Q8IZU2	.;.;WDR17_HUMAN	E	781;781;805;788	ENSP00000422763:K781E;ENSP00000377258:K781E;ENSP00000280190:K805E	ENSP00000280190:K805E	K	+	1	0	WDR17	177309993	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	8.850000	0.92190	2.126000	0.65437	0.449000	0.29647	AAA		PASS	0.338	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			16	40	16	40	---	---	---	---
ENPP6	133121	broad.mit.edu	37	4	185038118	185038118	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr4:185038118A>G	ENST00000296741.2	-	5	887	c.746T>C	c.(745-747)aTg>aCg	p.M249T		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	249					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)	p.M249T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CACTTTGTCCATCCAGAAAAT	0.542																																						uc003iwc.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(745-747)ATG>ACG		ectonucleotide pyrophosphatase/phosphodiesterase							119.0	99.0	105.0					4																	185038118		2203	4300	6503	SO:0001583	missense	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185038118A>G	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.746T>C	4.37:g.185038118A>G	ENSP00000296741:p.Met249Thr						p.M249T	NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	5	888	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	249			Extracellular (Potential).		Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	c.746T>C	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	A	9.890	1.203891	0.22121	.	.	ENSG00000164303	ENST00000296741;ENST00000512353	T;T	0.71698	-0.59;-0.59	6.03	3.57	0.40892	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.236970	0.56097	N	0.000036	T	0.46870	0.1415	N	0.13043	0.29	0.51767	D	0.999935	B	0.09022	0.002	B	0.14578	0.011	T	0.16129	-1.0413	10	0.13470	T	0.59	-27.8129	6.1444	0.20276	0.744:0.0:0.1342:0.1218	.	249	Q6UWR7	ENPP6_HUMAN	T	249;161	ENSP00000296741:M249T;ENSP00000423497:M161T	ENSP00000296741:M249T	M	-	2	0	ENPP6	185275112	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.229000	0.42990	0.502000	0.28037	0.533000	0.62120	ATG		PASS	0.542	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		17	54	17	54	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187541653	187541653	+	Silent	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr4:187541653T>C	ENST00000441802.2	-	10	6296	c.6087A>G	c.(6085-6087)tcA>tcG	p.S2029S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2029	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S2029S(1)|p.S2032S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACAGAACTCCTGAAGTGCGGC	0.463										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(6085-6087)TCA>TCG		FAT tumor suppressor 1 precursor							202.0	201.0	201.0					4																	187541653		1922	4123	6045	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541653T>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6087A>G	4.37:g.187541653T>C		HNSCC(5;0.00058)					p.S2029S	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	6275	-			2029			Extracellular (Potential).|Cadherin 18.			Silent	SNP	ENST00000441802.2	37	c.6087A>G	CCDS47177.1																																																																																				PASS	0.463	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		63	192	63	192	---	---	---	---
NKD2	85409	broad.mit.edu	37	5	1034432	1034432	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr5:1034432A>G	ENST00000296849.5	+	6	642	c.413A>G	c.(412-414)aAg>aGg	p.K138R	NKD2_ENST00000537972.1_Missense_Mutation_p.K138R|NKD2_ENST00000274150.4_Missense_Mutation_p.K138R|NKD2_ENST00000382730.2_5'Flank	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	138	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Interaction with DVL1, DVL2 and DVL3. {ECO:0000250}.|Targeting to the basolateral cell membrane.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)	p.K138R(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			AACTGCGGGAAGGTCACCAGG	0.617																																						uc003jbt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(412-414)AAG>AGG		naked cuticle homolog 2							134.0	98.0	110.0					5																	1034432		2201	4296	6497	SO:0001583	missense	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1034432A>G	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.413A>G	5.37:g.1034432A>G	ENSP00000296849:p.Lys138Arg					NKD2_uc010itf.1_Missense_Mutation_p.K138R	p.K138R	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		6	418	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		138			Targeting to the basolateral cell membrane.|EF-hand.|Potential.|Interaction with DVL1, DVL2 and DVL3 (By similarity).		Q96EK8|Q9BSN0	Missense_Mutation	SNP	ENST00000296849.5	37	c.413A>G	CCDS3859.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.566888	0.45694	.	.	ENSG00000145506	ENST00000296849;ENST00000274150;ENST00000537972	T;T;T	0.00560	6.6;6.6;6.6	3.65	2.42	0.29668	EF-hand-like domain (1);	0.217536	0.36482	N	0.002562	T	0.00967	0.0032	M	0.62723	1.935	0.80722	D	1	D;D	0.57257	0.979;0.967	P;P	0.54590	0.722;0.756	T	0.73319	-0.4020	10	0.42905	T	0.14	-0.9709	5.9442	0.19209	0.7676:0.0:0.0:0.2324	.	138;138	Q969F2-2;Q969F2	.;NKD2_HUMAN	R	138	ENSP00000296849:K138R;ENSP00000274150:K138R;ENSP00000440925:K138R	ENSP00000274150:K138R	K	+	2	0	NKD2	1087432	1.000000	0.71417	0.743000	0.31040	0.442000	0.32017	2.383000	0.44354	0.282000	0.22254	0.454000	0.30748	AAG		PASS	0.617	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		20	61	20	61	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13866338	13866338	+	Silent	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr5:13866338G>A	ENST00000265104.4	-	26	4211	c.4107C>T	c.(4105-4107)atC>atT	p.I1369I	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1369	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I1369I(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTGAAACATGATAAGCCTGT	0.353									Kartagener syndrome																													uc003jfd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(4105-4107)ATC>ATT		dynein, axonemal, heavy chain 5							33.0	37.0	36.0					5																	13866338		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13866338G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4107C>T	5.37:g.13866338G>A							p.I1369I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			26	4149	-	Lung NSC(4;0.00476)		1369			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.4107C>T	CCDS3882.1																																																																																				PASS	0.353	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		11	100	11	100	---	---	---	---
RAI14	26064	broad.mit.edu	37	5	34813695	34813695	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr5:34813695A>T	ENST00000265109.3	+	11	1069	c.782A>T	c.(781-783)aAa>aTa	p.K261I	RAI14_ENST00000512629.1_Intron|RAI14_ENST00000506376.1_Missense_Mutation_p.K253I|RAI14_ENST00000428746.2_Missense_Mutation_p.K261I|RAI14_ENST00000397449.1_Missense_Mutation_p.K254I|RAI14_ENST00000515799.1_Missense_Mutation_p.K264I|RAI14_ENST00000503673.1_Missense_Mutation_p.K261I	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	261						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.K261I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CAAGTCTCTAAAATAAGCTCA	0.403																																						uc003jir.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(781-783)AAA>ATA		retinoic acid induced 14 isoform a							96.0	90.0	92.0					5																	34813695		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34813695A>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.782A>T	5.37:g.34813695A>T	ENSP00000265109:p.Lys261Ile					RAI14_uc010iur.2_Intron|RAI14_uc011coj.1_Missense_Mutation_p.K261I|RAI14_uc010ius.1_Missense_Mutation_p.K190I|RAI14_uc003jis.2_Missense_Mutation_p.K264I|RAI14_uc003jit.2_Missense_Mutation_p.K261I|RAI14_uc011cok.1_Missense_Mutation_p.K253I	p.K261I	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN			11	978	+	all_lung(31;0.000191)		261					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.782A>T	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.066702	0.76301	.	.	ENSG00000039560	ENST00000265109;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.11;1.1	5.79	5.79	0.91817	.	.	.	.	.	T	0.53981	0.1830	L	0.43152	1.355	0.48395	D	0.999641	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.72075	0.976;0.97;0.933	T	0.53725	-0.8398	9	0.48119	T	0.1	-9.3012	11.2099	0.48793	0.9292:0.0:0.0708:0.0	.	253;264;261	Q9P0K7-3;Q9P0K7-2;Q9P0K7	.;.;RAI14_HUMAN	I	261;261;261;264;253;254	ENSP00000265109:K261I;ENSP00000388725:K261I;ENSP00000422942:K261I;ENSP00000427123:K264I;ENSP00000423854:K253I;ENSP00000380591:K254I	ENSP00000265109:K261I	K	+	2	0	RAI14	34849452	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.792000	0.62467	2.212000	0.71576	0.533000	0.62120	AAA		PASS	0.403	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		20	69	20	69	---	---	---	---
DAB2	1601	broad.mit.edu	37	5	39390671	39390671	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr5:39390671C>T	ENST00000320816.6	-	5	804	c.337G>A	c.(337-339)Gag>Aag	p.E113K	DAB2_ENST00000545653.1_Missense_Mutation_p.E113K|DAB2_ENST00000512525.1_5'UTR|DAB2_ENST00000509337.1_Missense_Mutation_p.E113K|DAB2_ENST00000339788.6_Missense_Mutation_p.E113K	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	113	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.E113K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TGTTCATGCTCTATTACCTTA	0.393																																						uc003jlx.2																			1	Substitution - Missense(1)		lung(1)	kidney(2)|skin(1)	3						c.(337-339)GAG>AAG		disabled homolog 2							54.0	58.0	56.0					5																	39390671		2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39390671C>T	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.337G>A	5.37:g.39390671C>T	ENSP00000313391:p.Glu113Lys					DAB2_uc003jlw.2_Missense_Mutation_p.E113K	p.E113K	NM_001343	NP_001334	P98082	DAB2_HUMAN	Epithelial(62;0.137)		5	868	-	all_lung(31;0.000197)		113			PID.		A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.337G>A	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	C	36	5.794134	0.96952	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	5.73	5.73	0.89815	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.39572	0.1083	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.71184	0.941;0.972	T	0.04140	-1.0974	10	0.56958	D	0.05	-20.25	20.2786	0.98501	0.0:1.0:0.0:0.0	.	113;113	P98082;P98082-3	DAB2_HUMAN;.	K	113	ENSP00000313391:E113K;ENSP00000345508:E113K;ENSP00000439919:E113K;ENSP00000426245:E113K	ENSP00000313391:E113K	E	-	1	0	DAB2	39426428	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.651000	0.67951	2.868000	0.98415	0.557000	0.71058	GAG		PASS	0.393	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		45	48	45	48	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45262720	45262720	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr5:45262720C>A	ENST00000303230.4	-	8	2033	c.1976G>T	c.(1975-1977)cGc>cTc	p.R659L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	659					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R659L(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGTCCTCATGCGGGAGGTCGG	0.567																																						uc003jok.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1975-1977)CGC>CTC		hyperpolarization activated cyclic							171.0	165.0	167.0					5																	45262720		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262720C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1976G>T	5.37:g.45262720C>A	ENSP00000307342:p.Arg659Leu						p.R659L	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2001	-			659			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1976G>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	1.757	-0.487748	0.04352	.	.	ENSG00000164588	ENST00000303230	T	0.76578	-1.03	5.52	4.65	0.58169	.	0.000000	0.52532	D	0.000078	T	0.70369	0.3216	L	0.44542	1.39	0.42764	D	0.993818	P	0.44090	0.826	B	0.40602	0.334	T	0.69165	-0.5217	10	0.30854	T	0.27	.	13.4624	0.61235	0.0:0.9252:0.0:0.0748	.	659	O60741	HCN1_HUMAN	L	659	ENSP00000307342:R659L	ENSP00000307342:R659L	R	-	2	0	HCN1	45298477	0.813000	0.29090	0.260000	0.24451	0.060000	0.15804	3.283000	0.51701	1.339000	0.45563	-0.140000	0.14226	CGC		PASS	0.567	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		74	76	74	76	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82808109	82808109	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr5:82808109G>T	ENST00000265077.3	+	6	1501	c.936G>T	c.(934-936)agG>agT	p.R312S	VCAN_ENST00000513984.1_Missense_Mutation_p.R312S|VCAN_ENST00000342785.4_Missense_Mutation_p.R312S|VCAN_ENST00000502527.2_Missense_Mutation_p.R312S|VCAN_ENST00000512590.2_Missense_Mutation_p.R264S|VCAN_ENST00000343200.5_Missense_Mutation_p.R312S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	312	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.R312S(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CTGTGGCCAGGGCCCAGTGTG	0.597																																						uc003kii.3																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(934-936)AGG>AGT		versican isoform 1 precursor							70.0	66.0	68.0					5																	82808109		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82808109G>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.936G>T	5.37:g.82808109G>T	ENSP00000265077:p.Arg312Ser					VCAN_uc003kij.3_Missense_Mutation_p.R312S|VCAN_uc010jau.2_Missense_Mutation_p.R312S|VCAN_uc003kik.3_Missense_Mutation_p.R312S|VCAN_uc003kih.3_Missense_Mutation_p.R312S	p.R312S	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	6	1292	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	312			Link 2.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.936G>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055426	0.75960	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69;2.69	5.49	4.62	0.57501	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.099322	0.44688	D	0.000427	T	0.34106	0.0886	M	0.76574	2.34	0.38198	D	0.94009	D;P;D;D;P	0.89917	1.0;0.94;0.992;0.999;0.819	D;P;P;D;P	0.85130	0.994;0.804;0.755;0.997;0.676	T	0.23154	-1.0196	10	0.62326	D	0.03	.	8.833	0.35096	0.2256:0.0:0.7744:0.0	.	312;312;312;312;312	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	S	312;312;312;264;312;312;312	ENSP00000265077:R312S;ENSP00000340062:R312S;ENSP00000342768:R312S;ENSP00000425959:R264S;ENSP00000426251:R312S;ENSP00000426715:R312S;ENSP00000421362:R312S	ENSP00000265077:R312S	R	+	3	2	VCAN	82843865	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.702000	0.47102	1.311000	0.45024	0.563000	0.77884	AGG		PASS	0.597	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		20	16	20	16	---	---	---	---
EDIL3	10085	broad.mit.edu	37	5	83360526	83360526	+	Missense_Mutation	SNP	T	T	A	rs143816596		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr5:83360526T>A	ENST00000296591.5	-	8	1363	c.945A>T	c.(943-945)gaA>gaT	p.E315D	EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Missense_Mutation_p.E305D	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	315					cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.E315D(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TACCCGACAGTTCACAGCCAA	0.368																																						uc003kio.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(943-945)GAA>GAT		EGF-like repeats and discoidin I-like							94.0	90.0	91.0					5																	83360526		2203	4300	6503	SO:0001583	missense	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83360526T>A	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.945A>T	5.37:g.83360526T>A	ENSP00000296591:p.Glu315Asp					EDIL3_uc003kip.1_Missense_Mutation_p.E305D|EDIL3_uc011ctt.1_Missense_Mutation_p.E92D	p.E315D	NM_005711	NP_005702	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	8	1364	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	315					B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	c.945A>T	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.310422	0.40895	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98947	-5.26;-5.26	5.29	-3.22	0.05125	Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.96956	0.9006	L	0.45698	1.435	0.47037	D	0.999294	B;B;P	0.45283	0.024;0.202;0.855	B;B;P	0.48304	0.024;0.188;0.573	D	0.93273	0.6653	10	0.33940	T	0.23	-31.8887	13.5162	0.61541	0.0:0.5329:0.0:0.4671	.	92;305;315	B7Z865;O43854-2;O43854	.;.;EDIL3_HUMAN	D	315;305	ENSP00000296591:E315D;ENSP00000369483:E305D	ENSP00000296591:E315D	E	-	3	2	EDIL3	83396282	0.951000	0.32395	0.315000	0.25238	0.897000	0.52465	0.002000	0.13061	-0.680000	0.05211	0.377000	0.23210	GAA		PASS	0.368	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		16	27	16	27	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90016835	90016835	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr5:90016835G>A	ENST00000405460.2	+	45	9803	c.9707G>A	c.(9706-9708)aGt>aAt	p.S3236N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3236					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S3236N(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGGCTGTGAGTGTGCAGTGG	0.383																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(9706-9708)AGT>AAT		G protein-coupled receptor 98 precursor							171.0	168.0	169.0					5																	90016835		1935	4159	6094	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90016835G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.9707G>A	5.37:g.90016835G>A	ENSP00000384582:p.Ser3236Asn					GPR98_uc003kjt.2_Missense_Mutation_p.S942N|GPR98_uc003kjv.2_Missense_Mutation_p.S836N	p.S3236N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	45	9803	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3236			Extracellular (Potential).|EAR 1.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.9707G>A	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.1|27.1	4.799920|4.799920	0.90538|0.90538	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.33654|.	1.4|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78559|0.78559	0.4302|0.4302	M|M	0.77820|0.77820	2.39|2.39	0.80722|0.80722	D|D	1|1	P;D|.	0.53619|.	0.5;0.961|.	B;B|.	0.43360|.	0.1;0.417|.	T|T	0.77789|0.77789	-0.2456|-0.2456	10|5	0.66056|.	D|.	0.02|.	.|.	19.7559|19.7559	0.96291|0.96291	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3236;3236|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	N|M	3236|802	ENSP00000384582:S3236N|.	ENSP00000296619:S3236N|.	S|V	+|+	2|1	0|0	GPR98|GPR98	90052591|90052591	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	4.909000|4.909000	0.63314|0.63314	2.671000|2.671000	0.90904|0.90904	0.650000|0.650000	0.86243|0.86243	AGT|GTG		PASS	0.383	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		27	84	27	84	---	---	---	---
ELL2	22936	broad.mit.edu	37	5	95224661	95224661	+	Nonsense_Mutation	SNP	T	T	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr5:95224661T>A	ENST00000237853.4	-	12	2186	c.1837A>T	c.(1837-1839)Aga>Tga	p.R613*	ELL2_ENST00000431061.2_Nonsense_Mutation_p.R363*	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	613					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.R613*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TATTCACATCTGTATTTTTCT	0.368																																						uc003klr.3																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(1837-1839)AGA>TGA		elongation factor, RNA polymerase II, 2							55.0	50.0	52.0					5																	95224661		2202	4299	6501	SO:0001587	stop_gained	22936				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr5:95224661T>A	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1837A>T	5.37:g.95224661T>A	ENSP00000237853:p.Arg613*						p.R613*	NM_012081	NP_036213	O00472	ELL2_HUMAN		all cancers(79;2.16e-15)	12	2187	-		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)	613					B4DNK7	Nonsense_Mutation	SNP	ENST00000237853.4	37	c.1837A>T	CCDS4080.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.188694	0.78789	.	.	ENSG00000118985	ENST00000237853;ENST00000431061	.	.	.	5.88	3.4	0.38934	.	0.090395	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5778	12.5305	0.56111	0.0:0.0:0.2637:0.7363	.	.	.	.	X	613;363	.	ENSP00000237853:R613X	R	-	1	2	ELL2	95250417	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.046000	0.49846	0.442000	0.26555	0.528000	0.53228	AGA		PASS	0.368	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		24	22	24	22	---	---	---	---
EPB41L4A	64097	broad.mit.edu	37	5	111594984	111594984	+	Missense_Mutation	SNP	C	C	A	rs539290653		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr5:111594984C>A	ENST00000261486.5	-	9	1013	c.737G>T	c.(736-738)cGg>cTg	p.R246L	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	246	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)		p.R246L(2)|p.R246Q(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTTTGTAATCCGAGGCCTAAA	0.393																																						uc003kpv.1																			3	Substitution - Missense(3)		lung(2)|haematopoietic_and_lymphoid_tissue(1)	ovary(1)	1						c.(736-738)CGG>CTG		erythrocyte protein band 4.1-like 4							148.0	130.0	136.0					5																	111594984		1807	4092	5899	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111594984C>A	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.737G>T	5.37:g.111594984C>A	ENSP00000261486:p.Arg246Leu						p.R246L	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	9	1011	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	246			FERM.		A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.737G>T	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868782	0.91587	.	.	ENSG00000129595	ENST00000261486	D	0.82803	-1.65	5.28	5.28	0.74379	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.89626	0.6769	M	0.76574	2.34	0.49051	D	0.999749	D	0.56287	0.975	P	0.58520	0.84	D	0.90698	0.4618	10	0.87932	D	0	.	18.0454	0.89330	0.0:1.0:0.0:0.0	.	246	Q9HCS5	E41LA_HUMAN	L	246	ENSP00000261486:R246L	ENSP00000261486:R246L	R	-	2	0	EPB41L4A	111622883	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.751000	0.68720	2.644000	0.89710	0.655000	0.94253	CGG		PASS	0.393	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			37	44	37	44	---	---	---	---
APC	324	broad.mit.edu	37	5	112174043	112174043	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr5:112174043G>T	ENST00000457016.1	+	16	3132	c.2752G>T	c.(2752-2754)Gag>Tag	p.E918*	APC_ENST00000257430.4_Nonsense_Mutation_p.E918*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.E918*			P25054	APC_HUMAN	adenomatous polyposis coli	918	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E918*(2)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGTGACAGATGAGAGAAATGC	0.413		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		3	Substitution - Nonsense(2)|Unknown(1)	p.E918*(1)|p.?(1)	large_intestine(1)|lung(1)|skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515	GRCh37	CM040978	APC	M		c.(2752-2754)GAG>TAG		adenomatous polyposis coli							75.0	76.0	76.0					5																	112174043		2202	4300	6502	SO:0001587	stop_gained	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112174043G>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2752G>T	5.37:g.112174043G>T	ENSP00000413133:p.Glu918*	TSP Lung(16;0.13)				APC_uc011cvt.1_Nonsense_Mutation_p.E900*|APC_uc003kpz.3_Nonsense_Mutation_p.E918*|APC_uc003kpy.3_Nonsense_Mutation_p.E918*|APC_uc010jbz.2_Nonsense_Mutation_p.E635*|APC_uc010jca.2_Nonsense_Mutation_p.E218*	p.E918*	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	3132	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	918			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.2752G>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	37	6.409919	0.97546	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.92	5.05	0.67936	.	0.289154	0.35936	N	0.002889	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-6.0823	15.0604	0.71947	0.0678:0.0:0.9322:0.0	.	.	.	.	X	918;900;918;918;918	.	ENSP00000257430:E918X	E	+	1	0	APC	112201942	1.000000	0.71417	0.591000	0.28745	0.776000	0.43924	9.434000	0.97515	1.521000	0.48983	0.557000	0.71058	GAG		PASS	0.413	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		24	31	24	31	---	---	---	---
APC	324	broad.mit.edu	37	5	112177057	112177057	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr5:112177057G>T	ENST00000457016.1	+	16	6146	c.5766G>T	c.(5764-5766)caG>caT	p.Q1922H	APC_ENST00000257430.4_Missense_Mutation_p.Q1922H|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.Q1922H			P25054	APC_HUMAN	adenomatous polyposis coli	1922	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.Q1922H(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATCGAGGTCAGCCTAAACCCA	0.423		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		2	Substitution - Missense(1)|Unknown(1)	p.?(1)	lung(1)|skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(5764-5766)CAG>CAT		adenomatous polyposis coli							118.0	108.0	112.0					5																	112177057		2202	4300	6502	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112177057G>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5766G>T	5.37:g.112177057G>T	ENSP00000413133:p.Gln1922His	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.Q1904H|APC_uc003kpz.3_Missense_Mutation_p.Q1922H|APC_uc003kpy.3_Missense_Mutation_p.Q1922H|APC_uc010jbz.2_Missense_Mutation_p.Q1639H|APC_uc010jca.2_Missense_Mutation_p.Q1222H	p.Q1922H	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	6146	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1922			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.5766G>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	8.815	0.936187	0.18206	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90844	-2.74;-2.74;-2.74	6.01	5.14	0.70334	.	0.288744	0.39407	N	0.001361	D	0.84902	0.5575	L	0.29908	0.895	0.37886	D	0.930559	P;P	0.38922	0.651;0.651	B;B	0.41088	0.347;0.347	D	0.83873	0.0275	9	.	.	.	-0.8992	9.5185	0.39120	0.2092:0.0:0.7908:0.0	.	1924;1922	Q4LE70;P25054	.;APC_HUMAN	H	1922	ENSP00000413133:Q1922H;ENSP00000257430:Q1922H;ENSP00000427089:Q1922H	.	Q	+	3	2	APC	112204956	0.198000	0.23374	1.000000	0.80357	0.166000	0.22503	0.350000	0.20079	1.558000	0.49541	0.650000	0.86243	CAG		PASS	0.423	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		19	22	19	22	---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	128863463	128863463	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr5:128863463A>G	ENST00000274487.4	+	5	1236	c.1091A>G	c.(1090-1092)aAg>aGg	p.K364R	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	364	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K364R(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TTCCAACACAAGAGTCTGAGT	0.318																																						uc003kvb.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(1090-1092)AAG>AGG		ADAM metallopeptidase with thrombospondin type 1							80.0	85.0	84.0					5																	128863463		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128863463A>G	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1091A>G	5.37:g.128863463A>G	ENSP00000274487:p.Lys364Arg					ADAMTS19_uc003kvc.1_RNA	p.K364R	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	5	1091	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	364			Peptidase M12B.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1091A>G	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.543479	0.45280	.	.	ENSG00000145808	ENST00000274487	D	0.86497	-2.13	4.41	4.41	0.53225	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000002	T	0.75766	0.3894	N	0.11201	0.11	0.45046	D	0.998064	B	0.27416	0.178	B	0.30401	0.115	T	0.71869	-0.4462	9	.	.	.	.	14.7116	0.69238	1.0:0.0:0.0:0.0	.	364	Q8TE59	ATS19_HUMAN	R	364	ENSP00000274487:K364R	.	K	+	2	0	ADAMTS19	128891362	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.726000	0.61986	2.209000	0.71365	0.460000	0.39030	AAG		PASS	0.318	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		16	98	16	98	---	---	---	---
FSTL4	23105	broad.mit.edu	37	5	132556550	132556550	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr5:132556550C>T	ENST00000265342.7	-	12	1597	c.1348G>A	c.(1348-1350)Gtg>Atg	p.V450M	FSTL4_ENST00000507112.1_5'UTR|CTB-49A3.2_ENST00000502776.1_RNA|CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	450						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.V450M(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGTTTCCCACGCTGAGGCCT	0.552																																						uc003kyn.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1348-1350)GTG>ATG		follistatin-like 4 precursor							116.0	104.0	108.0					5																	132556550		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132556550C>T	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1348G>A	5.37:g.132556550C>T	ENSP00000265342:p.Val450Met					FSTL4_uc003kym.1_Missense_Mutation_p.V99M	p.V450M	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		12	1566	-		all_cancers(142;0.244)	450					Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.1348G>A	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097066	0.76870	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.60424	0.19	5.35	4.48	0.54585	.	0.124363	0.53938	D	0.000058	T	0.70675	0.3251	L	0.53249	1.67	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	T	0.73316	-0.4021	10	0.66056	D	0.02	-19.8201	13.4363	0.61086	0.0:0.9243:0.0:0.0757	.	450;99	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	M	450;281	ENSP00000265342:V450M	ENSP00000265342:V450M	V	-	1	0	FSTL4	132584449	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	3.661000	0.54503	1.397000	0.46682	0.591000	0.81541	GTG		PASS	0.552	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		10	47	10	47	---	---	---	---
PSD2	84249	broad.mit.edu	37	5	139189275	139189275	+	Missense_Mutation	SNP	G	G	T	rs148759979		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr5:139189275G>T	ENST00000274710.3	+	2	455	c.250G>T	c.(250-252)Ggg>Tgg	p.G84W		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	84					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.G84W(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTAGCCCTGGGGCCAGACTT	0.622																																						uc003leu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(250-252)GGG>TGG		pleckstrin and Sec7 domain containing 2							86.0	88.0	87.0					5																	139189275		2203	4300	6503	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139189275G>T	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.250G>T	5.37:g.139189275G>T	ENSP00000274710:p.Gly84Trp						p.G84W	NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	455	+			84					D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.250G>T	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292973	0.60086	.	.	ENSG00000146005	ENST00000274710	T	0.35605	1.3	4.64	3.75	0.43078	.	0.282143	0.25692	N	0.028927	T	0.40956	0.1138	N	0.24115	0.695	0.28993	N	0.887936	D	0.71674	0.998	D	0.62955	0.909	T	0.30563	-0.9974	10	0.87932	D	0	.	11.2117	0.48802	0.0:0.1867:0.8133:0.0	.	84	Q9BQI7	PSD2_HUMAN	W	84	ENSP00000274710:G84W	ENSP00000274710:G84W	G	+	1	0	PSD2	139169459	1.000000	0.71417	0.749000	0.31150	0.897000	0.52465	2.526000	0.45607	1.219000	0.43474	0.561000	0.74099	GGG		PASS	0.622	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		76	48	76	48	---	---	---	---
ARHGEF37	389337	broad.mit.edu	37	5	149001624	149001624	+	Splice_Site	SNP	A	A	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr5:149001624A>C	ENST00000333677.6	+	9	1497	c.1334A>C	c.(1333-1335)cAg>cCg	p.Q445P		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	445	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q445P(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AGCATGGCCCAGGTAAGGCCT	0.607																																						uc003lra.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1333-1335)CAG>CCG		hypothetical protein LOC389337							21.0	26.0	25.0					5																	149001624		2028	4204	6232	SO:0001630	splice_region_variant	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:149001624A>C	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1335+1A>C	5.37:g.149001624A>C							p.Q445P	NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN			9	1398	+			445			BAR.		Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.1334A>C	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.118238	0.56505	.	.	ENSG00000183111	ENST00000333677	T	0.59906	0.23	6.17	4.99	0.66335	BAR (1);	0.221994	0.48286	D	0.000198	T	0.66519	0.2797	M	0.64997	1.995	0.47037	D	0.99929	P	0.51240	0.943	P	0.58820	0.846	T	0.62859	-0.6765	10	0.22706	T	0.39	-7.6895	10.9843	0.47513	0.8566:0.0:0.0:0.1434	.	445	A1IGU5	ARH37_HUMAN	P	445	ENSP00000328083:Q445P	ENSP00000328083:Q445P	Q	+	2	0	ARHGEF37	148981817	1.000000	0.71417	0.996000	0.52242	0.715000	0.41141	5.457000	0.66672	1.110000	0.41699	0.533000	0.62120	CAG		PASS	0.607	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669	Missense_Mutation	6	6	6	6	---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154169899	154169899	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr5:154169899G>A	ENST00000336314.4	+	2	244	c.220G>A	c.(220-222)Gcc>Acc	p.A74T		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	151					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.A74T(1)|p.A151T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCTGCTCCAGCCAAGGTGGT	0.552																																						uc003lvp.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(451-453)GCC>ACC		la related protein isoform 2							97.0	90.0	92.0					5																	154169899		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154169899G>A	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.220G>A	5.37:g.154169899G>A	ENSP00000336721:p.Ala74Thr					LARP1_uc003lvo.2_Missense_Mutation_p.A74T|LARP1_uc010jie.1_5'UTR	p.A151T	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		2	880	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	151					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.451G>A	CCDS4328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.10|17.10	3.301947|3.301947	0.60195|0.60195	.|.	.|.	ENSG00000155506|ENSG00000155506	ENST00000336314;ENST00000518297|ENST00000517616	T;T|.	0.43294|.	1.85;0.95|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.061356|.	0.64402|.	D|.	0.000002|.	T|T	0.53498|0.53498	0.1800|0.1800	N|N	0.16656|0.16656	0.425|0.425	0.48511|0.48511	D|D	0.999662|0.999662	B;B|.	0.28512|.	0.214;0.154|.	B;B|.	0.28011|.	0.056;0.085|.	T|T	0.46498|0.46498	-0.9187|-0.9187	10|5	0.25751|.	T|.	0.34|.	-16.6552|-16.6552	19.8677|19.8677	0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	151;74|.	Q6PKG0;Q6PKG0-3|.	LARP1_HUMAN;.|.	T|N	74;151|75	ENSP00000336721:A74T;ENSP00000428589:A151T|.	ENSP00000336721:A74T|.	A|S	+|+	1|2	0|0	LARP1|LARP1	154150092|154150092	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.929000|0.929000	0.56500|0.56500	4.419000|4.419000	0.59835|0.59835	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	GCC|AGC		PASS	0.552	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		7	53	7	53	---	---	---	---
EBF1	1879	broad.mit.edu	37	5	158135176	158135176	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr5:158135176G>T	ENST00000313708.6	-	15	1837	c.1555C>A	c.(1555-1557)Cca>Aca	p.P519T	EBF1_ENST00000517373.1_Missense_Mutation_p.P451T|EBF1_ENST00000380654.4_Missense_Mutation_p.P488T|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	519	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P519T(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGCTGGATGGCACTACTGAG	0.567			T	HMGA2	lipoma																																	uc010jip.2				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	1	Substitution - Missense(1)		lung(1)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(1555-1557)CCA>ACA		early B-cell factor							60.0	58.0	59.0					5																	158135176		2200	4295	6495	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158135176G>T	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1555C>A	5.37:g.158135176G>T	ENSP00000322898:p.Pro519Thr					EBF1_uc011ddw.1_Missense_Mutation_p.P387T|EBF1_uc011ddx.1_Missense_Mutation_p.P520T|EBF1_uc003lxl.3_Missense_Mutation_p.P488T	p.P519T	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	1857	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	519			Pro/Ser/Thr-rich.		Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.1555C>A	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594750	0.66219	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.46451	0.87;0.87;0.87	5.22	5.22	0.72569	.	0.065831	0.64402	D	0.000008	T	0.44180	0.1281	M	0.61703	1.905	0.80722	D	1	B;P;B;B	0.34522	0.309;0.455;0.001;0.002	B;B;B;B	0.32465	0.107;0.146;0.009;0.008	T	0.42749	-0.9433	10	0.42905	T	0.14	-2.6823	18.8129	0.92065	0.0:0.0:1.0:0.0	.	519;506;519;488	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	T	519;519;488;451	ENSP00000322898:P519T;ENSP00000370029:P488T;ENSP00000428020:P451T	ENSP00000322898:P519T	P	-	1	0	EBF1	158067754	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.437000	0.82529	0.655000	0.94253	CCA		PASS	0.567	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		5	5	5	5	---	---	---	---
RANBP17	64901	broad.mit.edu	37	5	170725835	170725835	+	Silent	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr5:170725835A>G	ENST00000523189.1	+	28	3404	c.3240A>G	c.(3238-3240)gaA>gaG	p.E1080E	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1080					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.E1080E(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)			GCAACACTGAACCATGCAGTC	0.507			T	TRD@	ALL																																	uc003mba.2				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3238-3240)GAA>GAG		RAN binding protein 17							130.0	107.0	115.0					5																	170725835		2203	4300	6503	SO:0001819	synonymous_variant	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170725835A>G	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.3240A>G	5.37:g.170725835A>G						RANBP17_uc003mbb.2_Silent_p.E405E|RANBP17_uc010jjs.2_RNA	p.E1080E	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		28	3256	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1080					Q8IU74	Silent	SNP	ENST00000523189.1	37	c.3240A>G	CCDS34287.1																																																																																				PASS	0.507	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		23	33	23	33	---	---	---	---
DOK3	79930	broad.mit.edu	37	5	176931447	176931447	+	Missense_Mutation	SNP	A	A	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr5:176931447A>C	ENST00000357198.4	-	6	1032	c.1028T>G	c.(1027-1029)aTg>aGg	p.M343R	DOK3_ENST00000377112.4_Intron|RP11-1334A24.6_ENST00000506025.1_RNA|DOK3_ENST00000312943.6_Intron|DOK3_ENST00000501403.2_Missense_Mutation_p.M287R	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	343	Pro-rich.				Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.M343R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TCCTGGTGGCATCTCCCGAAG	0.706																																						uc003mhk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1027-1029)ATG>AGG		docking protein 3 isoform 1							22.0	24.0	23.0					5																	176931447		2203	4300	6503	SO:0001583	missense	79930					cytoplasm|plasma membrane	insulin receptor binding	g.chr5:176931447A>C	AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.1028T>G	5.37:g.176931447A>C	ENSP00000349727:p.Met343Arg					DOK3_uc003mhh.3_Intron|DOK3_uc003mhi.3_Intron|DOK3_uc003mhj.3_Intron|DOK3_uc003mhl.2_Missense_Mutation_p.M287R	p.M343R	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		6	1033	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	343			Pro-rich.		E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Missense_Mutation	SNP	ENST00000357198.4	37	c.1028T>G	CCDS4426.1	.	.	.	.	.	.	.	.	.	.	a	0.019	-1.453032	0.01080	.	.	ENSG00000146094	ENST00000357198;ENST00000501403	T;T	0.28666	2.31;1.6	3.75	-0.184	0.13280	.	2.103450	0.02845	U	0.128340	T	0.15262	0.0368	N	0.14661	0.345	0.09310	N	1	B	0.22414	0.069	B	0.23018	0.043	T	0.11036	-1.0604	10	0.15066	T	0.55	-0.0173	0.1192	0.00063	0.331:0.1721:0.2425:0.2545	.	343	Q7L591	DOK3_HUMAN	R	343;287	ENSP00000349727:M343R;ENSP00000421688:M287R	ENSP00000349727:M343R	M	-	2	0	DOK3	176864053	0.000000	0.05858	0.006000	0.13384	0.227000	0.25037	-0.439000	0.06897	0.076000	0.16826	0.255000	0.18592	ATG		PASS	0.706	DOK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253420.4	NM_024872		17	16	17	16	---	---	---	---
IRF4	3662	broad.mit.edu	37	6	398903	398903	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:398903G>T	ENST00000380956.4	+	6	839	c.713G>T	c.(712-714)aGc>aTc	p.S238I		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	238					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S238I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		ACAGAGCCAAGCATAAGGTCT	0.562			T	IGH@	MM																																	uc003msz.3				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM 		1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(712-714)AGC>ATC		interferon regulatory factor 4							63.0	62.0	62.0					6																	398903		2203	4300	6503	SO:0001583	missense	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:398903G>T	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.713G>T	6.37:g.398903G>T	ENSP00000370343:p.Ser238Ile					IRF4_uc010jne.1_Missense_Mutation_p.S238I|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.S237I|IRF4_uc003mtc.1_Missense_Mutation_p.S68I	p.S238I	NM_002460	NP_002451	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	6	826	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	238					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.713G>T	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335035	0.60853	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.97328	-4.34	5.3	5.3	0.74995	.	0.468333	0.27563	N	0.018804	D	0.93318	0.7870	L	0.39898	1.24	0.80722	D	1	P;P;B;B	0.42010	0.7;0.768;0.38;0.294	B;B;B;B	0.42062	0.374;0.079;0.245;0.084	D	0.92868	0.6312	10	0.19147	T	0.46	-31.2903	18.9759	0.92736	0.0:0.0:1.0:0.0	.	238;268;237;238	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	I	238;267	ENSP00000370343:S238I	ENSP00000370343:S238I	S	+	2	0	IRF4	343903	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.805000	0.86005	2.474000	0.83562	0.650000	0.86243	AGC		PASS	0.562	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			19	21	19	21	---	---	---	---
MYLK4	340156	broad.mit.edu	37	6	2680468	2680468	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:2680468C>A	ENST00000274643.7	-	8	1087	c.745G>T	c.(745-747)Gga>Tga	p.G249*	MYLK4_ENST00000268446.5_Intron	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G249*(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				CTGGCCAATCCAAAATCAATA	0.418																																						uc003mty.3																			2	Substitution - Nonsense(2)		lung(2)	breast(3)|ovary(1)	4						c.(745-747)GGA>TGA		myosin light chain kinase family, member 4							196.0	198.0	197.0					6																	2680468		2203	4300	6503	SO:0001587	stop_gained	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2680468C>A		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.745G>T	6.37:g.2680468C>A	ENSP00000274643:p.Gly249*					MYLK4_uc003mtx.3_5'Flank	p.G249*	NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN			8	1042	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	249			Protein kinase.		A2RUC0|Q5TAW2	Nonsense_Mutation	SNP	ENST00000274643.7	37	c.745G>T	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	C	41	8.821092	0.98966	.	.	ENSG00000145949	ENST00000274643	.	.	.	5.54	5.54	0.83059	.	0.000000	0.44688	D	0.000439	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8444	0.92198	0.0:1.0:0.0:0.0	.	.	.	.	X	249	.	ENSP00000274643:G249X	G	-	1	0	MYLK4	2625467	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.758000	0.94735	0.655000	0.94253	GGA		PASS	0.418	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		34	327	34	327	---	---	---	---
NRSN1	140767	broad.mit.edu	37	6	24134684	24134684	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:24134684G>T	ENST00000378491.4	+	3	430	c.129G>T	c.(127-129)gaG>gaT	p.E43D	NRSN1_ENST00000378478.1_Missense_Mutation_p.E43D|NRSN1_ENST00000378475.1_Missense_Mutation_p.E43D	NM_080723.4	NP_542454.3			neurensin 1									p.E43D(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						CAATTTGGGAGTATGAGGATG	0.493																																						uc010jpq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(127-129)GAG>GAT		neurensin 1							132.0	115.0	121.0					6																	24134684		2203	4300	6503	SO:0001583	missense	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24134684G>T	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.129G>T	6.37:g.24134684G>T	ENSP00000367752:p.Glu43Asp						p.E43D	NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN			3	366	+			43						Missense_Mutation	SNP	ENST00000378491.4	37	c.129G>T	CCDS4549.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912692	0.72983	.	.	ENSG00000152954	ENST00000378491;ENST00000378478;ENST00000378477;ENST00000378475	T;T;T	0.20200	2.09;2.09;2.09	5.74	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.24122	0.0584	M	0.72118	2.19	0.50171	D	0.999851	D	0.55385	0.971	P	0.53224	0.721	T	0.04140	-1.0974	10	0.66056	D	0.02	-35.1893	11.0713	0.48006	0.1417:0.0:0.8583:0.0	.	43	Q8IZ57	NRSN1_HUMAN	D	43	ENSP00000367752:E43D;ENSP00000367739:E43D;ENSP00000367736:E43D	ENSP00000367736:E43D	E	+	3	2	NRSN1	24242663	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.435000	0.52849	1.439000	0.47511	-0.137000	0.14449	GAG		PASS	0.493	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		19	43	19	43	---	---	---	---
HIST1H2AC	8334	broad.mit.edu	37	6	26124828	26124828	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:26124828G>C	ENST00000602637.1	+	1	398	c.368G>C	c.(367-369)aGt>aCt	p.S123T	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.S123T|HIST1H2BC_ENST00000396984.1_5'Flank|HIST1H2BC_ENST00000314332.5_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	123						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S123T(1)		NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						AAGACCGAGAGTCACCACAAG	0.547																																						uc003ngm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(367-369)AGT>ACT		histone cluster 1, H2ac							73.0	74.0	74.0					6																	26124828		2203	4300	6503	SO:0001583	missense	8334				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26124828G>C	Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"""Histones / Replication-dependent"""	4733	protein-coding gene	gene with protein product		602794	"""H2A histone family, member L"", ""histone 1, H2ac"""	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.368G>C	6.37:g.26124828G>C	ENSP00000473534:p.Ser123Thr					HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngn.2_RNA|HIST1H2AC_uc003ngo.2_RNA|HIST1H2AC_uc003ngp.2_Missense_Mutation_p.S123T	p.S123T	NM_003512	NP_003503	Q93077	H2A1C_HUMAN			1	456	+			123					B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP	ENST00000602637.1	37	c.368G>C	CCDS4585.1	.	.	.	.	.	.	.	.	.	.	.	12.42	1.931660	0.34096	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.42513	0.97;0.97	5.5	5.5	0.81552	Histone-fold (2);Histone H2A (1);	0.000000	0.52532	D	0.000065	T	0.17408	0.0418	N	0.13003	0.285	0.35153	D	0.769982	B	0.02656	0.0	B	0.01281	0.0	T	0.02966	-1.1088	10	0.39692	T	0.17	.	18.7477	0.91800	0.0:0.0:1.0:0.0	.	123	Q93077	H2A1C_HUMAN	T	123	ENSP00000367022:S123T;ENSP00000321389:S123T	ENSP00000321389:S123T	S	+	2	0	HIST1H2AC	26232807	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	6.351000	0.73022	2.750000	0.94351	0.467000	0.42956	AGT		PASS	0.547	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	NM_003512		24	103	24	103	---	---	---	---
HIST1H3D	8351	broad.mit.edu	37	6	26197191	26197191	+	Silent	SNP	G	G	T	rs138527852	byFrequency	TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:26197191G>T	ENST00000356476.2	-	1	287	c.288C>A	c.(286-288)gcC>gcA	p.A96A	HIST1H3D_ENST00000377831.5_Silent_p.A96A|HIST1H2BF_ENST00000359985.1_5'Flank			P68431	H31_HUMAN	histone cluster 1, H3d	96					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.A96A(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				AGGCCTCGCAGGCCTCCTGCA	0.587																																					GBM(108;3816 4467)	uc003ngv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(286-288)GCC>GCA		histone cluster 1, H3d							81.0	76.0	78.0					6																	26197191		2203	4300	6503	SO:0001819	synonymous_variant	8351				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26197191G>T	Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"""Histones / Replication-dependent"""	4767	protein-coding gene	gene with protein product		602811	"""H3 histone family, member B"", ""histone 1, H3d"""	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.288C>A	6.37:g.26197191G>T						HIST1H2BF_uc003ngx.2_5'Flank	p.A96A	NM_003530	NP_003521	P68431	H31_HUMAN			2	685	-		all_hematologic(11;0.196)	96					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000356476.2	37	c.288C>A	CCDS4590.1																																																																																				PASS	0.587	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040096.1	NM_003530		11	112	11	112	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26423264	26423264	+	RNA	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:26423264G>T	ENST00000466808.2	+	0	183							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.M61I(1)									CTGAGGACATGGAGGTGCGGT	0.547																																						uc011dkl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(181-183)ATG>ATT		RecName: Full=Butyrophilin subfamily 2 member A3; Flags: Precursor;							214.0	171.0	186.0					6																	26423264		2203	4300	6503			54718							g.chr6:26423264G>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26423264G>T						BTN2A3_uc011dkm.1_RNA	p.M61I							2	213	+								A6NEF4	Missense_Mutation	SNP	ENST00000466808.2	37	c.183G>T																																																																																					PASS	0.547	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		36	69	36	69	---	---	---	---
OR2J2	26707	broad.mit.edu	37	6	29141839	29141839	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:29141839C>A	ENST00000377167.2	+	1	529	c.427C>A	c.(427-429)Cac>Aac	p.H143N		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H143N(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCGTTTCTGCCACTTGTTGGT	0.463																																						uc011dlm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(427-429)CAC>AAC		olfactory receptor, family 2, subfamily J,							308.0	286.0	293.0					6																	29141839		2017	4175	6192	SO:0001583	missense	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141839C>A		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.427C>A	6.37:g.29141839C>A	ENSP00000366372:p.His143Asn						p.H143N	NM_030905	NP_112167	O76002	OR2J2_HUMAN			1	529	+			143			Helical; Name=4; (Potential).		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	c.427C>A	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.079782	0.00375	.	.	ENSG00000204700	ENST00000377167	T	0.37058	1.22	2.3	-1.43	0.08884	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04815	0.0130	N	0.11201	0.11	0.09310	N	1	B	0.29590	0.25	B	0.30179	0.112	T	0.36311	-0.9753	9	0.27082	T	0.32	.	1.5784	0.02629	0.1595:0.4528:0.1575:0.2302	.	143	O76002	OR2J2_HUMAN	N	143	ENSP00000366372:H143N	ENSP00000366372:H143N	H	+	1	0	OR2J2	29249818	0.000000	0.05858	0.009000	0.14445	0.013000	0.08279	-5.784000	0.00098	-0.176000	0.10707	-2.468000	0.00203	CAC		PASS	0.463	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			158	343	158	343	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32036726	32036726	+	Silent	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:32036726G>C	ENST00000375244.3	-	16	5976	c.5775C>G	c.(5773-5775)gtC>gtG	p.V1925V	TNXB_ENST00000375247.2_Silent_p.V1925V			P22105	TENX_HUMAN	tenascin XB	2007	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.V1925V(1)|p.V2012V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCCTATGCGGACCATTTGGA	0.527																																						uc003nzl.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(5773-5775)GTC>GTG		tenascin XB isoform 1 precursor							134.0	152.0	146.0					6																	32036726		1338	2587	3925	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32036726G>C	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5775C>G	6.37:g.32036726G>C							p.V1925V	NM_019105	NP_061978	P22105	TENX_HUMAN			16	5977	-			2007			Fibronectin type-III 12.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.5775C>G																																																																																					PASS	0.527	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		14	144	14	144	---	---	---	---
TFEB	7942	broad.mit.edu	37	6	41653913	41653913	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:41653913T>C	ENST00000230323.4	-	9	1167	c.866A>G	c.(865-867)cAg>cGg	p.Q289R	AL035588.1_ENST00000597468.1_5'Flank|TFEB_ENST00000420312.1_Missense_Mutation_p.Q204R|TFEB_ENST00000358871.2_Missense_Mutation_p.Q303R|TFEB_ENST00000403298.4_Missense_Mutation_p.Q289R|TFEB_ENST00000373033.1_Missense_Mutation_p.Q289R	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	289					autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.Q289R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CAGGTCCTTCTGCATCCTCCG	0.582			T	ALPHA	renal (childhood epithelioid)																																	uc003oqs.1				Dom	yes		6	6p21	7942	T	transcription factor EB			"""E,M"""	ALPHA		renal (childhood epithelioid)		1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(865-867)CAG>CGG		transcription factor EB							118.0	104.0	109.0					6																	41653913		2203	4300	6503	SO:0001583	missense	7942				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr6:41653913T>C	M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"""Basic helix-loop-helix proteins"""	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.866A>G	6.37:g.41653913T>C	ENSP00000230323:p.Gln289Arg					TFEB_uc003oqt.1_Missense_Mutation_p.Q289R|TFEB_uc003oqu.1_Missense_Mutation_p.Q303R|TFEB_uc003oqr.1_Missense_Mutation_p.Q204R	p.Q289R	NM_007162	NP_009093	P19484	TFEB_HUMAN	Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		9	1168	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		289			Helix-loop-helix motif.		Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Missense_Mutation	SNP	ENST00000230323.4	37	c.866A>G	CCDS4858.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.781741	0.90282	.	.	ENSG00000112561	ENST00000406563;ENST00000343317;ENST00000230323;ENST00000358871;ENST00000403298;ENST00000420312;ENST00000373033	D;D;D;D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11	4.91	4.91	0.64330	Helix-loop-helix DNA-binding (5);	0.117858	0.64402	D	0.000013	D	0.98682	0.9558	M	0.67625	2.065	0.80722	D	1	D;D;B	0.69078	0.994;0.997;0.42	D;D;B	0.79108	0.988;0.992;0.168	D	0.99886	1.1122	10	0.72032	D	0.01	-25.5901	14.2181	0.65807	0.0:0.0:0.0:1.0	.	303;289;204	B0QYS6;P19484;P19484-2	.;TFEB_HUMAN;.	R	147;375;289;303;289;204;289	ENSP00000383998:Q147R;ENSP00000343948:Q375R;ENSP00000230323:Q289R;ENSP00000351742:Q303R;ENSP00000384203:Q289R;ENSP00000412551:Q204R;ENSP00000362124:Q289R	ENSP00000230323:Q289R	Q	-	2	0	TFEB	41761891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	1.839000	0.53478	0.533000	0.62120	CAG		PASS	0.582	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3			48	63	48	63	---	---	---	---
TTBK1	84630	broad.mit.edu	37	6	43227316	43227316	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:43227316C>A	ENST00000259750.4	+	12	1379	c.1296C>A	c.(1294-1296)agC>agA	p.S432R	TTBK1_ENST00000304139.5_Missense_Mutation_p.S381R	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	432					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S432R(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGGTCCCCAGCTCCCCAGTGC	0.682																																						uc003ouq.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9						c.(1294-1296)AGC>AGA		tau tubulin kinase 1							22.0	24.0	24.0					6																	43227316		2203	4297	6500	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43227316C>A	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1296C>A	6.37:g.43227316C>A	ENSP00000259750:p.Ser432Arg						p.S432R	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		12	1575	+			432					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.1296C>A	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288564	0.23478	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.57107	0.42	5.12	2.36	0.29203	.	0.261204	0.40144	N	0.001165	T	0.47728	0.1461	L	0.43923	1.385	0.34253	D	0.678997	D	0.71674	0.998	D	0.75484	0.986	T	0.52238	-0.8602	10	0.56958	D	0.05	.	8.8811	0.35376	0.0:0.7552:0.0:0.2448	.	432	Q5TCY1	TTBK1_HUMAN	R	381;432;381	ENSP00000259750:S432R	ENSP00000259750:S432R	S	+	3	2	TTBK1	43335294	0.990000	0.36364	1.000000	0.80357	0.384000	0.30261	0.167000	0.16602	0.185000	0.20105	-1.049000	0.02347	AGC		PASS	0.682	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			4	26	4	26	---	---	---	---
CAPN11	11131	broad.mit.edu	37	6	44137691	44137691	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:44137691G>C	ENST00000398776.1	+	4	426	c.388G>C	c.(388-390)Gac>Cac	p.D130H	CAPN11_ENST00000542245.1_Missense_Mutation_p.D130H	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	130	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)	p.D130H(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCTCCAACAGACATCTGCCA	0.562																																						uc003owt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(388-390)GAC>CAC		calpain 11							45.0	47.0	46.0					6																	44137691		1915	4116	6031	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44137691G>C	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.388G>C	6.37:g.44137691G>C	ENSP00000381758:p.Asp130His						p.D130H	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	426	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		130			Calpain catalytic.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.388G>C	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154830	0.57259	.	.	ENSG00000137225	ENST00000398776;ENST00000542245;ENST00000532171	D;D;D	0.92858	-3.12;-3.12;-3.12	4.15	4.15	0.48705	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.50627	D	0.000113	D	0.97380	0.9143	H	0.96777	3.88	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.98225	1.0480	10	0.87932	D	0	.	16.7004	0.85348	0.0:0.0:1.0:0.0	.	130	Q9UMQ6	CAN11_HUMAN	H	130;130;160	ENSP00000381758:D130H;ENSP00000441078:D130H;ENSP00000432420:D160H	ENSP00000381758:D130H	D	+	1	0	CAPN11	44245669	1.000000	0.71417	0.983000	0.44433	0.025000	0.11179	9.480000	0.97931	2.606000	0.88127	0.655000	0.94253	GAC		PASS	0.562	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			9	17	9	17	---	---	---	---
GPR115	221393	broad.mit.edu	37	6	47682358	47682358	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:47682358A>G	ENST00000283303.2	+	6	1635	c.1377A>G	c.(1375-1377)atA>atG	p.I459M	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Missense_Mutation_p.I459M|GPR115_ENST00000371220.1_Missense_Mutation_p.I516M	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	459					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I459M(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GGTTTATCATAGGCTCTCACT	0.458																																					GBM(22;431 510 9010 26644 32828)	uc003oza.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1375-1377)ATA>ATG		G-protein coupled receptor 115 precursor							259.0	240.0	246.0					6																	47682358		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682358A>G	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1377A>G	6.37:g.47682358A>G	ENSP00000283303:p.Ile459Met					GPR115_uc003oyz.1_Missense_Mutation_p.I516M|GPR115_uc003ozb.1_Missense_Mutation_p.I457M	p.I459M	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			6	1635	+			459			Helical; Name=2; (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.1377A>G	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	A	11.05	1.524994	0.27299	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.54479	0.57;0.57;0.57	5.45	-8.07	0.01098	GPCR, family 2-like (1);	0.774326	0.12136	N	0.496310	T	0.35941	0.0949	M	0.75085	2.285	0.09310	N	1	P	0.45986	0.87	P	0.50617	0.646	T	0.36720	-0.9736	10	0.87932	D	0	-1.4338	4.3826	0.11302	0.1336:0.439:0.0722:0.3553	.	459	Q8IZF3	GP115_HUMAN	M	516;459;459	ENSP00000360264:I516M;ENSP00000328319:I459M;ENSP00000283303:I459M	ENSP00000283303:I459M	I	+	3	3	GPR115	47790317	0.007000	0.16637	0.001000	0.08648	0.430000	0.31655	-1.046000	0.03525	-0.815000	0.04346	-0.316000	0.08728	ATA		PASS	0.458	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		9	234	9	234	---	---	---	---
PTCHD4	442213	broad.mit.edu	37	6	47847436	47847436	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:47847436T>C	ENST00000339488.4	-	3	1177	c.1144A>G	c.(1144-1146)Att>Gtt	p.I382V		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	382	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.					integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.I382V(1)									AAGGAGAAAATGTAGAAGTAG	0.453																																						uc011dwm.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1093-1095)ATT>GTT		hypothetical protein LOC442213							79.0	78.0	78.0					6																	47847436		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847436T>C		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1144A>G	6.37:g.47847436T>C	ENSP00000341914:p.Ile382Val					C6orf138_uc011dwn.1_Missense_Mutation_p.I129V	p.I365V	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			3	1178	-			382			Helical; (Potential).|SSD.		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.1093A>G	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.685248	0.00745	.	.	ENSG00000244694	ENST00000339488	D	0.85088	-1.94	5.01	5.01	0.66863	Sterol-sensing domain (1);	0.065553	0.64402	D	0.000005	T	0.48909	0.1526	N	0.02011	-0.69	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.54241	-0.8323	10	0.38643	T	0.18	.	9.302	0.37851	0.0:0.0807:0.0:0.9193	.	382	Q6ZW05	CF138_HUMAN	V	382	ENSP00000341914:I382V	ENSP00000341914:I382V	I	-	1	0	C6orf138	47955395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.886000	0.56190	1.895000	0.54865	0.528000	0.53228	ATT		PASS	0.453	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		5	38	5	38	---	---	---	---
MUT	4594	broad.mit.edu	37	6	49421411	49421411	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:49421411C>T	ENST00000274813.3	-	5	1097	c.970G>A	c.(970-972)Gct>Act	p.A324T		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	324			A -> T (in MMAM; mut-). {ECO:0000269|PubMed:15781192, ECO:0000269|PubMed:16281286}.		cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)	p.A324T(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTCTACCAGCTCTCATCTTT	0.363																																						uc003ozg.3																			1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM050678	MUT	M		c.(970-972)GCT>ACT		methylmalonyl Coenzyme A mutase precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						92.0	94.0	93.0					6																	49421411		2203	4300	6503	SO:0001583	missense	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49421411C>T		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.970G>A	6.37:g.49421411C>T	ENSP00000274813:p.Ala324Thr						p.A324T	NM_000255	NP_000246	P22033	MUTA_HUMAN			5	1225	-	Lung NSC(77;0.0376)		324		A -> T (in MMAM; mut-).			A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	c.970G>A	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	C	34	5.362351	0.95877	.	.	ENSG00000146085	ENST00000274813	D	0.99548	-6.14	5.6	5.6	0.85130	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.99829	0.9923	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96980	0.9714	10	0.87932	D	0	-11.6469	18.6178	0.91310	0.0:1.0:0.0:0.0	.	324	P22033	MUTA_HUMAN	T	324	ENSP00000274813:A324T	ENSP00000274813:A324T	A	-	1	0	MUT	49529370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.644000	0.89710	0.655000	0.94253	GCT		PASS	0.363	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			20	78	20	78	---	---	---	---
GSTA2	2939	broad.mit.edu	37	6	52616444	52616444	+	Missense_Mutation	SNP	G	G	T	rs140075572	byFrequency	TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:52616444G>T	ENST00000493422.1	-	6	632	c.477C>A	c.(475-477)caC>caA	p.H159Q		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	159	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.H159Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	GTTCCACCAGGTGAATGTCAG	0.512																																						uc003pay.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(475-477)CAC>CAA		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						167.0	145.0	153.0					6																	52616444		2203	4300	6503	SO:0001583	missense	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52616444G>T	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.477C>A	6.37:g.52616444G>T	ENSP00000420168:p.His159Gln						p.H159Q	NM_000846	NP_000837	P09210	GSTA2_HUMAN			6	627	-	Lung NSC(77;0.118)		159			GST C-terminal.		Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	c.477C>A	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	g	2.073	-0.412499	0.04799	.	.	ENSG00000244067	ENST00000493422	T	0.02067	4.47	2.88	-0.529	0.11901	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.655565	0.15358	N	0.266548	T	0.00412	0.0013	N	0.21545	0.675	0.27043	N	0.963958	B	0.18013	0.025	B	0.22880	0.042	T	0.43940	-0.9360	10	0.09843	T	0.71	.	1.6176	0.02707	0.1355:0.3386:0.3377:0.1882	.	159	P09210	GSTA2_HUMAN	Q	159	ENSP00000420168:H159Q	ENSP00000420168:H159Q	H	-	3	2	GSTA2	52724403	0.000000	0.05858	0.976000	0.42696	0.623000	0.37688	-6.460000	0.00065	0.090000	0.17273	-0.515000	0.04445	CAC		PASS	0.512	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		29	134	29	134	---	---	---	---
PRIM2	5558	broad.mit.edu	37	6	57472362	57472362	+	3'UTR	SNP	G	G	A	rs376072660		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:57472362G>A	ENST00000389488.2	+	0	1238				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.C384Y(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTGTCAGGGTGCCCATTCCGT	0.443																																						uc003pdx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1150-1152)TGC>TAC		DNA primase polypeptide 2		G	TYR/CYS	1,4049		0,1,2024	188.0	172.0	178.0		1151	4.8	1.0	6		178	0,8374		0,0,4187	no	missense	PRIM2	XM_003403439.1	194	0,1,6211	AA,AG,GG		0.0,0.0247,0.0080	probably-damaging	384/510	57472362	1,12423	2025	4187	6212	SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57472362G>A		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1235G>A	6.37:g.57472362G>A							p.C384Y	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	13	1238	+			384				Iron-sulfur (4Fe-4S).	Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000389488.2	37	c.1151G>A																																																																																					PASS	0.443	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		6	76	6	76	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69653721	69653721	+	Splice_Site	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:69653721G>C	ENST00000370598.1	+	6	1851		c.e6-1			NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3						G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.?(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTTTATTACAGTACACGGAGT	0.363																																						uc003pev.3																			2	Unknown(2)		lung(2)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.e6-1		brain-specific angiogenesis inhibitor 3							184.0	156.0	166.0					6																	69653721		2203	4300	6503	SO:0001630	splice_region_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69653721G>C	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1031-1G>C	6.37:g.69653721G>C						BAI3_uc010kak.2_Splice_Site_p.V344_splice	p.V344_splice	NM_001704	NP_001695	O60242	BAI3_HUMAN			6	1479	+		all_lung(197;0.212)						B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Splice_Site	SNP	ENST00000370598.1	37	c.1031_splice	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690222	0.88735	.	.	ENSG00000135298	ENST00000370598	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8322	0.92144	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BAI3	69710442	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.673000	0.90976	0.650000	0.86243	.		PASS	0.363	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		Intron	19	86	19	86	---	---	---	---
COL9A1	1297	broad.mit.edu	37	6	71004114	71004114	+	Missense_Mutation	SNP	T	T	A	rs149389568		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:71004114T>A	ENST00000357250.6	-	5	610	c.452A>T	c.(451-453)cAa>cTa	p.Q151L	COL9A1_ENST00000370496.3_Missense_Mutation_p.Q151L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	151	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.Q151L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TACAACAGATTGTGTTTGGCC	0.428																																						uc003pfg.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(451-453)CAA>CTA		alpha 1 type IX collagen isoform 1 precursor		T	LEU/GLN	5,4401	9.9+/-24.2	0,5,2198	155.0	154.0	154.0		452	5.6	1.0	6	dbSNP_134	154	0,8600		0,0,4300	no	missense	COL9A1	NM_001851.4	113	0,5,6498	AA,AT,TT		0.0,0.1135,0.0384	benign	151/922	71004114	5,13001	2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:71004114T>A		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.452A>T	6.37:g.71004114T>A	ENSP00000349790:p.Gln151Leu						p.Q151L	NM_001851	NP_001842	P20849	CO9A1_HUMAN			5	611	-			151			Nonhelical region (NC4).|TSP N-terminal.		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.452A>T	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.207524	0.58343	0.001135	0.0	ENSG00000112280	ENST00000357250;ENST00000370496	T;T	0.13778	2.56;2.56	5.58	5.58	0.84498	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.180058	0.45867	D	0.000328	T	0.07863	0.0197	L	0.44542	1.39	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.03898	-1.0994	10	0.87932	D	0	.	16.0538	0.80779	0.0:0.0:0.0:1.0	.	151	P20849	CO9A1_HUMAN	L	151	ENSP00000349790:Q151L;ENSP00000359527:Q151L	ENSP00000349790:Q151L	Q	-	2	0	COL9A1	71060835	1.000000	0.71417	0.997000	0.53966	0.847000	0.48162	4.418000	0.59828	2.250000	0.74265	0.528000	0.53228	CAA		PASS	0.428	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			70	90	70	90	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	73102433	73102433	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:73102433C>G	ENST00000521978.1	+	31	4539	c.4539C>G	c.(4537-4539)gaC>gaG	p.D1513E	RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000414192.2_Missense_Mutation_p.D40E|RIMS1_ENST00000264839.7_Missense_Mutation_p.D1362E|RIMS1_ENST00000348717.5_Missense_Mutation_p.D1296E|RIMS1_ENST00000517960.1_Missense_Mutation_p.D1296E|RIMS1_ENST00000425662.2_Missense_Mutation_p.D581E|RIMS1_ENST00000523963.1_Missense_Mutation_p.D638E|RIMS1_ENST00000517827.1_Missense_Mutation_p.D647E|RIMS1_ENST00000401910.3_Missense_Mutation_p.D833E|RIMS1_ENST00000522291.1_Missense_Mutation_p.D1112E|RIMS1_ENST00000518273.1_Missense_Mutation_p.D1192E|RIMS1_ENST00000520567.1_Missense_Mutation_p.D1163E|RIMS1_ENST00000538414.1_Missense_Mutation_p.D319E|RIMS1_ENST00000491071.2_Missense_Mutation_p.D1336E	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1513					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.D1513E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGGGAGCTGACAGTCAATTCA	0.413																																						uc003pga.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(4537-4539)GAC>GAG		regulating synaptic membrane exocytosis 1							98.0	92.0	94.0					6																	73102433		1853	4104	5957	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:73102433C>G	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4539C>G	6.37:g.73102433C>G	ENSP00000428417:p.Asp1513Glu					RIMS1_uc011dyb.1_Missense_Mutation_p.D910E|RIMS1_uc003pgc.2_Missense_Mutation_p.D962E|RIMS1_uc010kaq.2_Missense_Mutation_p.D833E|RIMS1_uc011dyc.1_Missense_Mutation_p.D638E|RIMS1_uc010kar.2_Missense_Mutation_p.D581E|RIMS1_uc011dyd.1_Missense_Mutation_p.D647E|RIMS1_uc003pgf.2_Missense_Mutation_p.D513E|RIMS1_uc003pgg.2_Missense_Mutation_p.D409E|RIMS1_uc003pgi.2_Missense_Mutation_p.D329E|RIMS1_uc003pgh.2_Missense_Mutation_p.D380E|RIMS1_uc003pgd.2_Missense_Mutation_p.D579E|RIMS1_uc003pge.2_Missense_Mutation_p.D553E|RIMS1_uc011dye.1_Missense_Mutation_p.D319E|RIMS1_uc011dyf.1_Missense_Mutation_p.D137E|RIMS1_uc011dyg.1_Missense_Mutation_p.D40E	p.D1513E	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			31	4616	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1513					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.4539C>G	CCDS47449.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.69|13.69|13.69	2.313577|2.313577|2.313577	0.40996|0.40996|0.40996	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420;ENST00000538414;ENST00000414192|ENST00000517433|ENST00000522211	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.|.	0.19806|.|.	2.25;2.6;2.49;2.6;2.64;2.67;2.66;2.48;2.52;2.67;2.63;2.36;2.62;2.12;2.12;2.3|.|.	5.5|5.5|5.5	3.69|3.69|3.69	0.42338|0.42338|0.42338	.|.|.	0.000000|.|.	0.64402|.|.	D|.|.	0.000003|.|.	T|T|T	0.17492|0.17492|0.17492	0.0420|0.0420|0.0420	N|N|N	0.11673|0.11673|0.11673	0.155|0.155|0.155	0.52099|0.52099|0.52099	D|D|D	0.999942|0.999942|0.999942	B;B;D;B;D;B;P;B;D;P;D;P;D|.|.	0.71674|.|.	0.023;0.052;0.992;0.003;0.998;0.199;0.649;0.217;0.997;0.649;0.994;0.826;0.994|.|.	B;B;D;B;D;B;B;B;D;B;D;P;D|.|.	0.80764|.|.	0.01;0.023;0.989;0.056;0.994;0.081;0.187;0.034;0.992;0.378;0.97;0.473;0.97|.|.	T|T|T	0.05566|0.05566|0.05566	-1.0877|-1.0877|-1.0877	10|5|5	0.72032|.|.	D|.|.	0.01|.|.	-19.947|-19.947|-19.947	8.6518|8.6518|8.6518	0.34040|0.34040|0.34040	0.0:0.7631:0.0:0.2369|0.0:0.7631:0.0:0.2369|0.0:0.7631:0.0:0.2369	.|.|.	137;319;647;638;1362;833;1112;416;1192;1296;589;1336;1513|.|.	B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.|.	.;.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.|.	E|E|R	1336;1362;1336;1296;1192;1112;1362;1296;1192;1163;1112;1513;833;638;581;678;647;561;319;40|859|431	ENSP00000430101:D1336E;ENSP00000275037:D1296E;ENSP00000264839:D1362E;ENSP00000429959:D1296E;ENSP00000430408:D1192E;ENSP00000430502:D1163E;ENSP00000430932:D1112E;ENSP00000428417:D1513E;ENSP00000385649:D833E;ENSP00000428328:D638E;ENSP00000411235:D581E;ENSP00000389503:D678E;ENSP00000428367:D647E;ENSP00000359448:D561E;ENSP00000439730:D319E;ENSP00000402273:D40E|.|.	ENSP00000264839:D1362E|.|.	D|Q|T	+|+|+	3|1|2	2|0|0	RIMS1|RIMS1|RIMS1	73159154|73159154|73159154	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	2.255000|2.255000|2.255000	0.43222|0.43222|0.43222	0.663000|0.663000|0.663000	0.31027|0.31027|0.31027	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAC|CAG|ACA		PASS	0.413	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			40	87	40	87	---	---	---	---
KCNQ5	56479	broad.mit.edu	37	6	73843173	73843173	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:73843173G>A	ENST00000370398.1	+	10	1386	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	KCNQ5_ENST00000342056.2_Missense_Mutation_p.R445H|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R417H|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R436H|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R427H|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R426H|KCNQ5_ENST00000414165.2_Intron|KCNQ5-AS1_ENST00000429832.1_RNA	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	426					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.R426H(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GAGCGAGTGCGCATGGCTAGC	0.512																																					GBM(142;1375 1859 14391 23261 44706)	uc003pgk.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|skin(1)	7						c.(1276-1278)CGC>CAC		potassium voltage-gated channel, KQT-like							67.0	70.0	69.0					6																	73843173		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73843173G>A	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1277G>A	6.37:g.73843173G>A	ENSP00000359425:p.Arg426His					KCNQ5_uc011dyh.1_Missense_Mutation_p.R445H|KCNQ5_uc011dyi.1_Missense_Mutation_p.R436H|KCNQ5_uc010kat.2_Missense_Mutation_p.R417H|KCNQ5_uc011dyj.1_Intron|KCNQ5_uc011dyk.1_Missense_Mutation_p.R176H	p.R426H	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	10	1624	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	426					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.1277G>A	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	30	5.053340	0.93793	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813	D;D;D;D;D;D	0.99418	-5.87;-5.82;-5.81;-5.82;-5.87;-5.83	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74348	0.983;0.943;0.975;0.962	D	0.99490	1.0950	10	0.34782	T	0.22	.	18.1396	0.89634	0.0:0.0:1.0:0.0	.	436;445;417;426	Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;KCNQ5_HUMAN	H	445;445;426;426;436;427;417	ENSP00000345055:R445H;ENSP00000347326:R426H;ENSP00000359425:R426H;ENSP00000385501:R436H;ENSP00000347853:R427H;ENSP00000384453:R417H	ENSP00000345055:R445H	R	+	2	0	KCNQ5	73899894	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.601000	0.82783	2.797000	0.96272	0.563000	0.77884	CGC		PASS	0.512	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		11	56	11	56	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75893688	75893688	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:75893688A>T	ENST00000322507.8	-	9	1479	c.1170T>A	c.(1168-1170)agT>agA	p.S390R	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.S390R|COL12A1_ENST00000483888.2_Missense_Mutation_p.S390R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	390	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.S390R(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGTCGCGAACACTGAGCGTGG	0.522																																						uc003phs.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(1168-1170)AGT>AGA		collagen, type XII, alpha 1 long isoform							150.0	145.0	146.0					6																	75893688		2024	4186	6210	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75893688A>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1170T>A	6.37:g.75893688A>T	ENSP00000325146:p.Ser390Arg					COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.S48R	p.S390R	NM_004370	NP_004361	Q99715	COCA1_HUMAN			9	1336	-			390			Fibronectin type-III 2.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.1170T>A	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	A	3.740	-0.053816	0.07362	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.57107	0.42;0.42;0.42	5.55	-2.59	0.06209	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.265153	0.33199	N	0.005162	T	0.11452	0.0279	N	0.20483	0.58	0.09310	N	0.999992	B;B	0.28470	0.137;0.213	B;B	0.21546	0.035;0.032	T	0.24119	-1.0169	10	0.30078	T	0.28	.	6.729	0.23373	0.5495:0.1197:0.3307:0.0	.	390;390	D6RGG3;Q99715	.;COCA1_HUMAN	R	390	ENSP00000325146:S390R;ENSP00000412864:S390R;ENSP00000421216:S390R	ENSP00000325146:S390R	S	-	3	2	COL12A1	75950408	0.996000	0.38824	0.215000	0.23724	0.305000	0.27757	1.084000	0.30828	-0.447000	0.07138	-0.899000	0.02877	AGT		PASS	0.522	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		24	112	24	112	---	---	---	---
CEP162	22832	broad.mit.edu	37	6	84910621	84910621	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:84910621C>A	ENST00000403245.3	-	9	835	c.721G>T	c.(721-723)Gtg>Ttg	p.V241L	KIAA1009_ENST00000257766.4_Missense_Mutation_p.V165L	NM_014895.2	NP_055710.2												p.V241L(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCAAGCAGCACAACTGGAAGA	0.358																																						uc010kbp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(721-723)GTG>TTG		KIAA1009 protein							105.0	102.0	103.0					6																	84910621		2203	4300	6503	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84910621C>A																												ENST00000403245.3:c.721G>T	6.37:g.84910621C>A	ENSP00000385215:p.Val241Leu					KIAA1009_uc003pkj.3_Missense_Mutation_p.V165L|KIAA1009_uc003pkk.2_Missense_Mutation_p.V241L	p.V241L	NM_014895	NP_055710	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	9	818	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	241						Missense_Mutation	SNP	ENST00000403245.3	37	c.721G>T	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367457	0.61513	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.15834	2.39;2.39	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000010	T	0.18718	0.0449	M	0.76574	2.34	0.33213	D	0.553673	P;D	0.56521	0.875;0.976	B;P	0.46320	0.243;0.512	T	0.05500	-1.0881	10	0.46703	T	0.11	-12.7577	17.094	0.86630	0.0:1.0:0.0:0.0	.	241;241	Q5TB80;C9JFM9	QN1_HUMAN;.	L	165;241	ENSP00000257766:V165L;ENSP00000385215:V241L	ENSP00000257766:V165L	V	-	1	0	KIAA1009	84967340	0.988000	0.35896	1.000000	0.80357	0.773000	0.43773	2.917000	0.48821	2.817000	0.96982	0.563000	0.77884	GTG		PASS	0.358	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			55	89	55	89	---	---	---	---
TBX18	9096	broad.mit.edu	37	6	85457787	85457787	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:85457787G>T	ENST00000369663.5	-	5	1127	c.790C>A	c.(790-792)Cac>Aac	p.H264N	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Missense_Mutation_p.H106N	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	264					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.H264N(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TGGTATTTGTGCATAGAATGA	0.428																																						uc003pkl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|lung(1)	5						c.(790-792)CAC>AAC		T-box 18							71.0	68.0	69.0					6																	85457787		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85457787G>T	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.790C>A	6.37:g.85457787G>T	ENSP00000358677:p.His264Asn					TBX18_uc010kbq.1_Missense_Mutation_p.H106N	p.H264N	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	5	790	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	264			T-box.		A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.790C>A	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743805	0.89663	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	D	0.93426	-3.22	5.86	5.86	0.93980	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.98140	0.9386	H	0.96889	3.9	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	D	0.98758	1.0723	10	0.87932	D	0	.	20.1986	0.98248	0.0:0.0:1.0:0.0	.	180;264	Q8IW86;O95935	.;TBX18_HUMAN	N	179;264	ENSP00000358677:H264N	ENSP00000358677:H264N	H	-	1	0	TBX18	85514506	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	9.869000	0.99810	2.781000	0.95711	0.650000	0.86243	CAC		PASS	0.428	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		10	47	10	47	---	---	---	---
TBX18	9096	broad.mit.edu	37	6	85472268	85472268	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:85472268G>T	ENST00000369663.5	-	2	828	c.491C>A	c.(490-492)gCc>gAc	p.A164D	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Missense_Mutation_p.A6D	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	164					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.A164D(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TTACCTGCCGGCCTTGGTGAT	0.627																																						uc003pkl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|lung(1)	5						c.(490-492)GCC>GAC		T-box 18							101.0	104.0	103.0					6																	85472268		2202	4299	6501	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85472268G>T	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.491C>A	6.37:g.85472268G>T	ENSP00000358677:p.Ala164Asp					TBX18_uc010kbq.1_Missense_Mutation_p.A6D	p.A164D	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	2	491	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	164			T-box.		A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.491C>A	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	36	5.693593	0.96793	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	D	0.87966	-2.32	5.74	5.74	0.90152	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94019	0.8084	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.94132	0.7389	10	0.87932	D	0	.	19.9226	0.97093	0.0:0.0:1.0:0.0	.	80;164	Q8IW86;O95935	.;TBX18_HUMAN	D	79;164	ENSP00000358677:A164D	ENSP00000358677:A164D	A	-	2	0	TBX18	85528987	1.000000	0.71417	0.992000	0.48379	0.910000	0.53928	9.762000	0.98944	2.720000	0.93068	0.561000	0.74099	GCC		PASS	0.627	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		28	155	28	155	---	---	---	---
HTR1E	3354	broad.mit.edu	37	6	87725570	87725570	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:87725570G>T	ENST00000305344.5	+	2	1221	c.518G>T	c.(517-519)tGc>tTc	p.C173F		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	173					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.C173F(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CCTAGTCAGTGCACCATCCAG	0.512																																						uc003pli.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(517-519)TGC>TTC		5-hydroxytryptamine (serotonin) receptor 1E	Eletriptan(DB00216)						108.0	100.0	103.0					6																	87725570		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725570G>T		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.518G>T	6.37:g.87725570G>T	ENSP00000307766:p.Cys173Phe						p.C173F	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1221	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	173			Extracellular (By similarity).		E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.518G>T	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435627	0.62955	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.62639	0.01;0.01	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	D	0.85071	0.5613	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91386	0.5131	10	0.87932	D	0	.	16.8055	0.85626	0.0:0.0:1.0:0.0	.	173	P28566	5HT1E_HUMAN	F	173	ENSP00000307766:C173F;ENSP00000358597:C173F	ENSP00000307766:C173F	C	+	2	0	HTR1E	87782289	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.219000	0.95173	1.966000	0.57179	0.404000	0.27445	TGC		PASS	0.512	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		43	71	43	71	---	---	---	---
SLC35F1	222553	broad.mit.edu	37	6	118596642	118596642	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:118596642G>T	ENST00000360388.4	+	5	859	c.658G>T	c.(658-660)Gac>Tac	p.D220Y		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	220					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.D220Y(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GCTGGTAGGGGACCTTCTGGT	0.448																																						uc003pxx.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(658-660)GAC>TAC		solute carrier family 35, member F1							82.0	85.0	84.0					6																	118596642		2203	4300	6503	SO:0001583	missense	222553				transport	integral to membrane		g.chr6:118596642G>T	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.658G>T	6.37:g.118596642G>T	ENSP00000353557:p.Asp220Tyr					SLC35F1_uc003pxy.1_Missense_Mutation_p.D25Y	p.D220Y	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	5	859	+			220					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	c.658G>T	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666754	0.88251	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.83547	0.5278	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85719	0.1324	9	0.87932	D	0	.	19.2178	0.93785	0.0:0.0:1.0:0.0	.	220	Q5T1Q4	S35F1_HUMAN	Y	220	.	ENSP00000353557:D220Y	D	+	1	0	SLC35F1	118703335	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.072000	0.71238	2.836000	0.97738	0.655000	0.94253	GAC		PASS	0.448	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		13	61	13	61	---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131215519	131215519	+	Silent	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:131215519T>C	ENST00000337057.3	-	10	1633	c.1452A>G	c.(1450-1452)ctA>ctG	p.L484L	EPB41L2_ENST00000528282.1_Silent_p.L484L|EPB41L2_ENST00000525271.1_Silent_p.L484L|EPB41L2_ENST00000530481.1_Silent_p.L484L|EPB41L2_ENST00000525193.1_Silent_p.L484L|EPB41L2_ENST00000392427.3_Silent_p.L484L|EPB41L2_ENST00000368128.2_Silent_p.L484L|EPB41L2_ENST00000527659.1_Silent_p.L484L|EPB41L2_ENST00000445890.2_Silent_p.L484L|EPB41L2_ENST00000527411.1_Silent_p.L484L|EPB41L2_ENST00000529208.1_Silent_p.L484L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	484	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)	p.L484L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ACACTTTCCATAGTCTTTTCG	0.443																																						uc003qch.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1450-1452)CTA>CTG		erythrocyte membrane protein band 4.1-like 2							156.0	151.0	153.0					6																	131215519		2203	4300	6503	SO:0001819	synonymous_variant	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131215519T>C	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1452A>G	6.37:g.131215519T>C						EPB41L2_uc003qcg.1_Silent_p.L484L|EPB41L2_uc011eby.1_Silent_p.L484L|EPB41L2_uc003qci.2_Silent_p.L484L|EPB41L2_uc010kfk.2_Silent_p.L484L|EPB41L2_uc010kfl.1_Silent_p.L484L	p.L484L	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	10	1634	-	Breast(56;0.0639)		484			FERM.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Silent	SNP	ENST00000337057.3	37	c.1452A>G	CCDS5141.1																																																																																				PASS	0.443	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			55	140	55	140	---	---	---	---
ENPP1	5167	broad.mit.edu	37	6	132168977	132168977	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:132168977G>T	ENST00000360971.2	+	2	322	c.302G>T	c.(301-303)tGt>tTt	p.C101F		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	101					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.C49F(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AAACCAAGCTGTGCCAAAGAA	0.378																																					Colon(104;336 1535 5856 11019 33782)	uc011ecf.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)	4						c.(301-303)TGT>TTT		ectonucleotide pyrophosphatase/phosphodiesterase	Amifostine(DB01143)|Ribavirin(DB00811)						87.0	83.0	84.0					6																	132168977		2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132168977G>T	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.302G>T	6.37:g.132168977G>T	ENSP00000354238:p.Cys101Phe						p.C101F	NM_006208	NP_006199	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	2	322	+	Breast(56;0.0505)		101			Extracellular (Potential).		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.302G>T	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941716	0.73557	.	.	ENSG00000197594	ENST00000360971	T	0.72394	-0.65	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.64692	0.2621	N	0.19112	0.55	0.58432	D	0.999992	D	0.61697	0.99	P	0.56916	0.809	T	0.69277	-0.5187	10	0.59425	D	0.04	-20.3248	17.3729	0.87383	0.0:0.0:1.0:0.0	.	101	P22413	ENPP1_HUMAN	F	101	ENSP00000354238:C101F	ENSP00000354238:C101F	C	+	2	0	ENPP1	132210670	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.403000	0.73264	2.847000	0.97988	0.591000	0.81541	TGT		PASS	0.378	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			12	20	12	20	---	---	---	---
ENPP1	5167	broad.mit.edu	37	6	132172345	132172345	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:132172345C>A	ENST00000360971.2	+	4	514	c.494C>A	c.(493-495)gCc>gAc	p.A165D		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	165	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.A113D(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AGCCTCTGTGCCTGTTCAGAT	0.468																																					Colon(104;336 1535 5856 11019 33782)	uc011ecf.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)	4						c.(493-495)GCC>GAC		ectonucleotide pyrophosphatase/phosphodiesterase	Amifostine(DB01143)|Ribavirin(DB00811)						150.0	142.0	144.0					6																	132172345		2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132172345C>A	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.494C>A	6.37:g.132172345C>A	ENSP00000354238:p.Ala165Asp						p.A165D	NM_006208	NP_006199	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	4	514	+	Breast(56;0.0505)		165			Extracellular (Potential).|SMB 2.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.494C>A	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404963	0.62288	.	.	ENSG00000197594	ENST00000360971	T	0.41065	1.01	5.55	5.55	0.83447	Somatomedin B domain (4);	0.160321	0.41938	D	0.000795	T	0.15435	0.0372	N	0.03608	-0.345	0.34085	D	0.660033	B	0.29955	0.263	B	0.36766	0.232	T	0.17501	-1.0367	10	0.34782	T	0.22	-11.4719	18.2827	0.90103	0.0:1.0:0.0:0.0	.	165	P22413	ENPP1_HUMAN	D	165	ENSP00000354238:A165D	ENSP00000354238:A165D	A	+	2	0	ENPP1	132214038	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	3.294000	0.51787	2.612000	0.88384	0.591000	0.81541	GCC		PASS	0.468	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			22	92	22	92	---	---	---	---
TAAR9	134860	broad.mit.edu	37	6	132860118	132860118	+	RNA	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:132860118G>C	ENST00000434551.1	+	0	690					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		AGGCTAGGAAGATAGAAAGTA	0.423																																					Colon(10;433 445 15992 45047 47213)	uc011eci.1																			0					0						c.(688-690)AAG>AAC		trace amine associated receptor 9							84.0	83.0	83.0					6																	132860118		1901	4116	6017			134860					plasma membrane	G-protein coupled receptor activity	g.chr6:132860118G>C	AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"""GPCR / Class A : Trace amine associated receptors"""	20977	protein-coding gene	gene with protein product		608282	"""trace amine receptor 3"", ""trace amine associated receptor 9"""	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132860118G>C							p.K230N	NM_175057	NP_778227	Q96RI9	TAAR9_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)	2	692	+	Breast(56;0.112)		230			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000434551.1	37	c.690G>C																																																																																					PASS	0.423	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057		51	65	51	65	---	---	---	---
VNN1	8876	broad.mit.edu	37	6	133015200	133015200	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:133015200C>G	ENST00000367928.4	-	3	476	c.463G>C	c.(463-465)Gat>Cat	p.D155H		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	155	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)	p.D155H(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TAACGGCCATCAGGGGGACAC	0.428																																						uc003qdo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(463-465)GAT>CAT		vanin 1 precursor							172.0	156.0	161.0					6																	133015200		2203	4300	6503	SO:0001583	missense	8876				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	g.chr6:133015200C>G	AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.463G>C	6.37:g.133015200C>G	ENSP00000356905:p.Asp155His						p.D155H	NM_004666	NP_004657	O95497	VNN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)	3	483	-	Breast(56;0.135)		155			CN hydrolase.		A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	37	c.463G>C	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264505	0.39995	.	.	ENSG00000112299	ENST00000367928	D	0.88664	-2.41	6.07	3.99	0.46301	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.069759	0.64402	D	0.000019	D	0.93713	0.7991	M	0.86502	2.82	0.48341	D	0.999631	D	0.89917	1.0	D	0.79784	0.993	D	0.94852	0.8014	10	0.87932	D	0	-28.0596	14.0027	0.64444	0.0:0.8581:0.0:0.1419	.	155	O95497	VNN1_HUMAN	H	155	ENSP00000356905:D155H	ENSP00000356905:D155H	D	-	1	0	VNN1	133056893	0.993000	0.37304	0.809000	0.32408	0.039000	0.13416	3.092000	0.50207	1.587000	0.49959	-0.145000	0.13849	GAT		PASS	0.428	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			14	90	14	90	---	---	---	---
PEX7	5191	broad.mit.edu	37	6	137219304	137219304	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:137219304C>G	ENST00000318471.4	+	9	909	c.828C>G	c.(826-828)gaC>gaG	p.D276E	RP11-55K22.2_ENST00000574864.1_RNA|PEX7_ENST00000541292.1_3'UTR	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	276					endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)	p.D276E(1)		lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		CAAAGCCTGACTCTCTTCTTG	0.328																																						uc003qhd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(826-828)GAC>GAG		peroxisomal biogenesis factor 7							116.0	110.0	112.0					6																	137219304		2203	4300	6503	SO:0001583	missense	5191				ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	g.chr6:137219304C>G	AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"""WD repeat domain containing"""	8860	protein-coding gene	gene with protein product	"""Refsum disease"""	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.828C>G	6.37:g.137219304C>G	ENSP00000315680:p.Asp276Glu					PEX7_uc010kgx.2_RNA	p.D276E	NM_000288	NP_000279	O00628	PEX7_HUMAN		GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)	9	930	+	Colorectal(23;0.24)		276					C0H5X6	Missense_Mutation	SNP	ENST00000318471.4	37	c.828C>G	CCDS5180.1	.	.	.	.	.	.	.	.	.	.	C	4.881	0.163819	0.09287	.	.	ENSG00000112357	ENST00000318471	T	0.62498	0.02	5.96	-2.06	0.07298	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.560127	0.20244	N	0.096224	T	0.11110	0.0271	N	0.02412	-0.56	0.80722	D	1	B	0.15473	0.013	B	0.11329	0.006	T	0.10451	-1.0629	10	0.13470	T	0.59	-30.9013	7.0028	0.24820	0.1108:0.2606:0.0:0.6285	.	276	O00628	PEX7_HUMAN	E	276	ENSP00000315680:D276E	ENSP00000315680:D276E	D	+	3	2	PEX7	137260997	0.739000	0.28196	0.819000	0.32651	0.116000	0.19942	-0.501000	0.06398	-0.606000	0.05746	-0.136000	0.14681	GAC		PASS	0.328	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042387.2	NM_000288		19	61	19	61	---	---	---	---
ECT2L	345930	broad.mit.edu	37	6	139204005	139204005	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:139204005G>T	ENST00000423192.1	+	15	2186	c.2025G>T	c.(2023-2025)gaG>gaT	p.E675D	ECT2L_ENST00000541398.1_Missense_Mutation_p.E606D|ECT2L_ENST00000367682.2_Missense_Mutation_p.E675D			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	675	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E675D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						AAACTATTGAGAAGGTAAATG	0.393			"""N, Splice, Mis"""		ETP ALL																																	uc003qif.1				Rec	yes		6	6q24.1	345930		epithelial cell transforming sequence 2 oncogene-like			L					1	Substitution - Missense(1)		lung(1)		0						c.(2023-2025)GAG>GAT		epithelial cell transforming sequence 2							76.0	73.0	74.0					6																	139204005		1868	4105	5973	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139204005G>T		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2025G>T	6.37:g.139204005G>T	ENSP00000387388:p.Glu675Asp					ECT2L_uc011edq.1_Missense_Mutation_p.E606D	p.E675D	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN			14	2128	+			675			DH.		B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.2025G>T	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	G	6.591	0.477385	0.12521	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.63744	-0.06;-0.06;-0.06	5.74	1.72	0.24424	Dbl homology (DH) domain (5);	0.166638	0.22789	U	0.055634	T	0.18215	0.0437	L	0.31371	0.925	0.30896	N	0.729851	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.08126	-1.0737	10	0.13108	T	0.6	-7.8746	2.5329	0.04707	0.1562:0.269:0.4366:0.1382	.	606;675	F5H7S9;Q008S8	.;ECT2L_HUMAN	D	675;675;606	ENSP00000387388:E675D;ENSP00000356655:E675D;ENSP00000442307:E606D	ENSP00000356655:E675D	E	+	3	2	ECT2L	139245698	0.971000	0.33674	0.985000	0.45067	0.381000	0.30169	-0.050000	0.11904	0.339000	0.23719	-0.156000	0.13503	GAG		PASS	0.393	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		6	36	6	36	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146720571	146720571	+	Missense_Mutation	SNP	T	T	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:146720571T>A	ENST00000282753.1	+	7	2631	c.2396T>A	c.(2395-2397)cTa>cAa	p.L799Q	GRM1_ENST00000355289.4_Missense_Mutation_p.L799Q|GRM1_ENST00000492807.2_Missense_Mutation_p.L799Q|GRM1_ENST00000507907.1_Missense_Mutation_p.L799Q|GRM1_ENST00000392299.2_Missense_Mutation_p.L799Q|GRM1_ENST00000361719.2_Missense_Mutation_p.L799Q			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	799					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.L799Q(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ATCATCTGGCTAGCTTTTGTG	0.488																																						uc010khw.1																			2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(2395-2397)CTA>CAA		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						176.0	147.0	157.0					6																	146720571		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720571T>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2396T>A	6.37:g.146720571T>A	ENSP00000282753:p.Leu799Gln					GRM1_uc010khv.1_Missense_Mutation_p.L799Q|GRM1_uc003qll.2_Missense_Mutation_p.L799Q|GRM1_uc011edz.1_Missense_Mutation_p.L799Q|GRM1_uc011eea.1_Missense_Mutation_p.L799Q	p.L799Q	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2866	+		Ovarian(120;0.0387)	799			Helical; Name=6; (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2396T>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.264692	0.80358	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6;-2.6	5.68	5.68	0.88126	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93966	0.8068	M	0.84156	2.68	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.993;1.0;0.99	D	0.94907	0.8061	10	0.87932	D	0	.	15.9149	0.79503	0.0:0.0:0.0:1.0	.	799;799;799	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	Q	799	ENSP00000354896:L799Q;ENSP00000376119:L799Q;ENSP00000424095:L799Q;ENSP00000282753:L799Q;ENSP00000347437:L799Q;ENSP00000425599:L799Q	ENSP00000282753:L799Q	L	+	2	0	GRM1	146762264	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.169000	0.68431	0.477000	0.44152	CTA		PASS	0.488	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		20	109	20	109	---	---	---	---
UST	10090	broad.mit.edu	37	6	149342530	149342530	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:149342530C>A	ENST00000367463.4	+	7	953	c.850C>A	c.(850-852)Ctt>Att	p.L284I		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	284					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.L284I(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		CGTGGGGATTCTTGAAGAGTT	0.413																																						uc003qmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(850-852)CTT>ATT		uronyl-2-sulfotransferase							110.0	99.0	103.0					6																	149342530		2203	4300	6503	SO:0001583	missense	10090				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity	g.chr6:149342530C>A	AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"""Sulfotransferases, membrane-bound"""	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.850C>A	6.37:g.149342530C>A	ENSP00000356433:p.Leu284Ile						p.L284I	NM_005715	NP_005706	Q9Y2C2	UST_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)	7	1146	+		Ovarian(120;0.0907)	284			Lumenal (Potential).		B2RCX6	Missense_Mutation	SNP	ENST00000367463.4	37	c.850C>A	CCDS5213.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696910	0.68386	.	.	ENSG00000111962	ENST00000367463	T	0.74737	-0.87	5.42	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.81969	0.4935	M	0.86805	2.84	0.58432	D	0.999998	P	0.51791	0.948	P	0.59288	0.855	D	0.84506	0.0619	10	0.49607	T	0.09	-20.5889	14.4384	0.67298	0.0:0.9288:0.0:0.0712	.	284	Q9Y2C2	UST_HUMAN	I	284	ENSP00000356433:L284I	ENSP00000356433:L284I	L	+	1	0	UST	149384223	1.000000	0.71417	0.446000	0.26920	0.419000	0.31324	4.012000	0.57131	1.432000	0.47375	-0.259000	0.10710	CTT		PASS	0.413	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1	NM_005715		22	42	22	42	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152477094	152477094	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:152477094C>A	ENST00000367255.5	-	132	24530	c.23929G>T	c.(23929-23931)Gac>Tac	p.D7977Y	SYNE1_ENST00000423061.1_Missense_Mutation_p.D7906Y|SYNE1_ENST00000356820.4_Missense_Mutation_p.D2501Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.D7906Y|SYNE1_ENST00000539504.1_Missense_Mutation_p.D132Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.D7977Y|SYNE1_ENST00000354674.4_Missense_Mutation_p.D132Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.D7589Y|SYNE1_ENST00000347037.5_5'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7977					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.D7977Y(2)|p.D7906Y(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)		CACCGCCGGTCCAGGTTTCTC	0.512										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.(23929-23931)GAC>TAC		spectrin repeat containing, nuclear envelope 1							112.0	106.0	108.0					6																	152477094		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.chr6:152477094C>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.23929G>T	6.37:g.152477094C>A	ENSP00000356224:p.Asp7977Tyr	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.D2501Y|SYNE1_uc003qos.3_Missense_Mutation_p.D2501Y|SYNE1_uc003qot.3_Missense_Mutation_p.D7906Y|SYNE1_uc003qou.3_Missense_Mutation_p.D7977Y|SYNE1_uc003qop.3_Missense_Mutation_p.D139Y|SYNE1_uc011eez.1_Missense_Mutation_p.D179Y|SYNE1_uc003qoq.3_Missense_Mutation_p.D179Y|SYNE1_uc003qor.3_Missense_Mutation_p.D877Y	p.D7977Y	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	132	24531	-		Ovarian(120;0.0955)	7977			Spectrin 28.|Cytoplasmic (Potential).|HAT 12.		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.23929G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	32	5.123394	0.94429	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000007	T	0.67711	0.2922	M	0.76838	2.35	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.998;0.999;0.997	T	0.69807	-0.5045	10	0.87932	D	0	.	20.1057	0.97893	0.0:1.0:0.0:0.0	.	7977;7977;7906;7906;179	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	Y	7977;132;623;7906;7977;7906;7589;2501;139;134;899;132	ENSP00000356224:D7977Y;ENSP00000441052:D132Y;ENSP00000356226:D623Y;ENSP00000396024:D7906Y;ENSP00000265368:D7977Y;ENSP00000390975:D7906Y;ENSP00000341887:D7589Y;ENSP00000349276:D2501Y;ENSP00000356220:D899Y;ENSP00000346701:D132Y	ENSP00000265368:D7977Y	D	-	1	0	SYNE1	152518787	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.776000	0.85560	2.827000	0.97445	0.650000	0.86243	GAC		PASS	0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		31	74	31	74	---	---	---	---
SYTL3	94120	broad.mit.edu	37	6	159166690	159166690	+	Splice_Site	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:159166690C>T	ENST00000297239.9	+	11	1228	c.1034C>T	c.(1033-1035)cCg>cTg	p.P345L	SYTL3_ENST00000360448.3_Splice_Site_p.P277L|SYTL3_ENST00000367081.3_Splice_Site_p.P71L			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	345	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)	p.P277L(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		AAGTGCAATCCGTAAGTTGTT	0.289																																						uc003qrp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1033-1035)CCG>CTG		synaptotagmin-like 3							50.0	48.0	49.0					6																	159166690		2202	4300	6502	SO:0001630	splice_region_variant	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159166690C>T	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1034+1C>T	6.37:g.159166690C>T						SYTL3_uc011efp.1_Missense_Mutation_p.P345L|SYTL3_uc003qro.2_Missense_Mutation_p.P277L|SYTL3_uc003qrq.2_Missense_Mutation_p.P277L|SYTL3_uc003qrr.2_Missense_Mutation_p.P345L|SYTL3_uc003qrs.2_Missense_Mutation_p.P277L|SYTL3_uc011efq.1_Missense_Mutation_p.P71L	p.P345L	NM_001009991	NP_001009991	Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	11	1278	+		Breast(66;0.000776)|Ovarian(120;0.0303)	345			C2 1.		Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	c.1034C>T	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758699	0.89843	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.76709	-1.04;-1.04;-1.04	5.51	5.51	0.81932	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.92916	0.7746	H	0.98351	4.21	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.95318	0.8418	10	0.87932	D	0	-31.2442	19.4315	0.94772	0.0:1.0:0.0:0.0	.	71;345;277	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	L	277;345;345;71	ENSP00000353631:P277L;ENSP00000297239:P345L;ENSP00000356048:P71L	ENSP00000297239:P345L	P	+	2	0	SYTL3	159086678	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.062000	0.71155	2.600000	0.87896	0.655000	0.94253	CCG		PASS	0.289	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1		Missense_Mutation	9	33	9	33	---	---	---	---
PHF10	55274	broad.mit.edu	37	6	170112605	170112605	+	Silent	SNP	T	T	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr6:170112605T>A	ENST00000339209.4	-	8	957	c.834A>T	c.(832-834)ccA>ccT	p.P278P	PHF10_ENST00000366780.4_Silent_p.P276P	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	278	SAY.				nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)	p.P190P(1)|p.P278P(1)		endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		CTGTGTTTAATGGCAGATACC	0.443																																						uc011egy.1																			2	Substitution - coding silent(2)		lung(2)	urinary_tract(1)	1						c.(832-834)CCA>CCT		PHD finger protein 10 isoform a							127.0	125.0	126.0					6																	170112605		2203	4300	6503	SO:0001819	synonymous_variant	55274				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding	g.chr6:170112605T>A	AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"""Zinc fingers, PHD-type"""	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.834A>T	6.37:g.170112605T>A						PHF10_uc011egz.1_Silent_p.P276P|PHF10_uc011eha.1_Silent_p.P129P	p.P278P	NM_018288	NP_060758	Q8WUB8	PHF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)	8	913	-		Breast(66;5.08e-05)|Ovarian(120;0.208)	278			SAY.		Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Silent	SNP	ENST00000339209.4	37	c.834A>T	CCDS5308.2																																																																																				PASS	0.443	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		27	64	27	64	---	---	---	---
COX19	90639	broad.mit.edu	37	7	1009036	1009036	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr7:1009036C>G	ENST00000344111.3	-	3	340	c.251G>C	c.(250-252)gGa>gCa	p.G84A		NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN	cytochrome c oxidase assembly homolog 19 (S. cerevisiae)	84						cytoplasm (GO:0005737)		p.G84A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		CTCTGATTTTCCACTAGTCAA	0.468																																						uc003sjp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)GGA>GCA		COX19 cytochrome c oxidase assembly homolog							265.0	305.0	291.0					7																	1009036		2203	4300	6503	SO:0001583	missense	90639					cytosol		g.chr7:1009036C>G	AY957566	CCDS34582.1	7p22.3	2012-10-15	2012-10-15		ENSG00000240230	ENSG00000240230		"""Mitochondrial respiratory chain complex assembly factors"""	28074	protein-coding gene	gene with protein product		610429	"""COX19 cytochrome c oxidase assembly homolog (S. cerevisiae)"""			15596615, 16212937	Standard	NM_001031617		Approved	MGC104475	uc003sjp.1	Q49B96	OTTHUMG00000151476	ENST00000344111.3:c.251G>C	7.37:g.1009036C>G	ENSP00000342015:p.Gly84Ala					ADAP1_uc010ksc.2_Intron	p.G84A	NM_001031617	NP_001026788	Q49B96	COX19_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)	3	341	-		Ovarian(82;0.0112)	84					A4FTX0	Missense_Mutation	SNP	ENST00000344111.3	37	c.251G>C	CCDS34582.1	.	.	.	.	.	.	.	.	.	.	C	5.293	0.239449	0.10023	.	.	ENSG00000240230	ENST00000344111	.	.	.	4.17	2.3	0.28687	.	0.497840	0.19653	N	0.109168	T	0.15219	0.0367	.	.	.	0.09310	N	1	B	0.23316	0.083	B	0.21360	0.034	T	0.23511	-1.0186	8	0.09590	T	0.72	-22.587	5.3833	0.16204	0.0:0.6812:0.0:0.3188	.	84	Q49B96	COX19_HUMAN	A	84	.	ENSP00000342015:G84A	G	-	2	0	COX19	975562	0.768000	0.28519	0.009000	0.14445	0.837000	0.47467	0.762000	0.26503	1.041000	0.40125	0.555000	0.69702	GGA		PASS	0.468	COX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322812.1	NM_001031617		73	270	73	270	---	---	---	---
SNX8	29886	broad.mit.edu	37	7	2296508	2296508	+	Splice_Site	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr7:2296508C>T	ENST00000222990.3	-	10	1327		c.e10+1			NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8						early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.?(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GGCGGACTCACCTCCTTGTGC	0.672																																						uc003slw.2																			1	Unknown(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.e10+1		sorting nexin 8							125.0	89.0	101.0					7																	2296508		2201	4300	6501	SO:0001630	splice_region_variant	29886				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding	g.chr7:2296508C>T	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.1284+1G>A	7.37:g.2296508C>T							p.E428_splice	NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)	10	1327	-		Ovarian(82;0.11)						A4D207|Q96I67	Splice_Site	SNP	ENST00000222990.3	37	c.1284_splice	CCDS5331.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337055	0.81801	.	.	ENSG00000106266	ENST00000222990	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1616	0.93535	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SNX8	2263034	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.337000	0.79256	2.547000	0.85894	0.561000	0.74099	.		PASS	0.672	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2		Intron	4	21	4	21	---	---	---	---
PAPOLB	56903	broad.mit.edu	37	7	4901033	4901033	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr7:4901033T>C	ENST00000404991.1	-	1	592	c.406A>G	c.(406-408)Aaa>Gaa	p.K136E	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	136					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AGTTTCAGTTTAGCATAGAAT	0.418																																						uc003snk.2																			0				ovary(1)	1						c.(409-411)AAA>GAA		poly(A) polymerase beta (testis specific)							69.0	71.0	70.0					7																	4901033		2103	4257	6360	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4901033T>C	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.406A>G	7.37:g.4901033T>C	ENSP00000384700:p.Lys136Glu					RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	p.K137E	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	593	-		Ovarian(82;0.0175)	136					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.409A>G		.	.	.	.	.	.	.	.	.	.	T	12.89	2.072216	0.36566	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.36	3.22	0.36961	.	.	.	.	.	T	0.61887	0.2383	L	0.38838	1.175	0.43555	D	0.995865	D	0.65815	0.995	D	0.67231	0.95	T	0.62020	-0.6942	8	0.66056	D	0.02	.	8.2394	0.31652	0.0:0.0961:0.0:0.9039	.	137	A4D1Z6	.	E	136	.	ENSP00000384700:K136E	K	-	1	0	PAPOLB	4867559	1.000000	0.71417	0.487000	0.27428	0.090000	0.18270	7.724000	0.84798	1.019000	0.39547	0.477000	0.44152	AAA		PASS	0.418	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		8	23	8	23	---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5348574	5348574	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr7:5348574C>T	ENST00000430969.1	-	29	8980	c.8632G>A	c.(8632-8634)Gac>Aac	p.D2878N	TNRC18_ENST00000399537.4_Missense_Mutation_p.D2878N	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2878	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.						chromatin binding (GO:0003682)	p.D2878N(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GACTTCTGGTCCCAGTGCTGT	0.706																																						uc003soi.3																			2	Substitution - Missense(2)		lung(2)		0						c.(8632-8634)GAC>AAC		trinucleotide repeat containing 18							7.0	10.0	9.0					7																	5348574		1838	4036	5874	SO:0001583	missense	84629						DNA binding	g.chr7:5348574C>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8632G>A	7.37:g.5348574C>T	ENSP00000395538:p.Asp2878Asn						p.D2878N	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	29	8981	-		Ovarian(82;0.142)	2878			BAH.		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.8632G>A	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	c	22.4	4.287223	0.80803	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.16073	2.39;2.37	5.16	5.16	0.70880	Bromo adjacent homology (BAH) domain (3);	.	.	.	.	T	0.35856	0.0946	L	0.44542	1.39	0.48696	D	0.999696	D	0.76494	0.999	D	0.72982	0.979	T	0.06110	-1.0845	9	0.62326	D	0.03	.	18.2301	0.89933	0.0:1.0:0.0:0.0	.	2878	O15417	TNC18_HUMAN	N	2878	ENSP00000382452:D2878N;ENSP00000395538:D2878N	ENSP00000382452:D2878N	D	-	1	0	TNRC18	5315100	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.263000	0.78421	2.396000	0.81511	0.561000	0.74099	GAC		PASS	0.706	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				7	15	7	15	---	---	---	---
EIF2AK1	27102	broad.mit.edu	37	7	6089541	6089541	+	Splice_Site	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr7:6089541A>T	ENST00000199389.6	-	3	558		c.e3+1		RN7SL851P_ENST00000480512.2_RNA|EIF2AK1_ENST00000536084.1_Intron	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1						negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.?(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TTTAGGGCTTACCTGACGAAC	0.308																																						uc003spp.2																			1	Unknown(1)		lung(1)	upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4						c.e3+1		eukaryotic translation initiation factor 2-alpha							66.0	64.0	65.0					7																	6089541		2203	4300	6503	SO:0001630	splice_region_variant	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6089541A>T	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.411+1T>A	7.37:g.6089541A>T						EIF2AK1_uc003spq.2_Splice_Site_p.Q137_splice|EIF2AK1_uc011jwm.1_Intron	p.Q137_splice	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	3	557	-		Ovarian(82;0.0423)						A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Splice_Site	SNP	ENST00000199389.6	37	c.411_splice	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.844736	0.71603	.	.	ENSG00000086232	ENST00000199389;ENST00000446699	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9466	0.64089	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EIF2AK1	6056067	1.000000	0.71417	0.985000	0.45067	0.912000	0.54170	5.220000	0.65267	2.112000	0.64535	0.445000	0.29226	.		PASS	0.308	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413	Intron	16	63	16	63	---	---	---	---
CPVL	54504	broad.mit.edu	37	7	29160628	29160628	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr7:29160628G>T	ENST00000409850.1	-	6	696	c.50C>A	c.(49-51)cCt>cAt	p.P17H	CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000265394.5_Missense_Mutation_p.P17H|CPVL_ENST00000396276.3_Missense_Mutation_p.P17H			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	17						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.P17H(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						ACAGGGGCCAGGCATCAACAG	0.468																																						uc003szv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(49-51)CCT>CAT		serine carboxypeptidase vitellogenic-like							89.0	81.0	84.0					7																	29160628		2203	4300	6503	SO:0001583	missense	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29160628G>T	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.50C>A	7.37:g.29160628G>T	ENSP00000387164:p.Pro17His					CPVL_uc003szw.2_Missense_Mutation_p.P17H|CPVL_uc003szx.2_Missense_Mutation_p.P17H	p.P17H	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN			2	169	-			17					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	c.50C>A	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	G	5.233	0.228445	0.09916	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000449801;ENST00000455544	T;T;T;T;T	0.30981	2.55;2.55;2.55;1.53;1.51	5.6	0.458	0.16670	.	3.539890	0.01141	N	0.006213	T	0.20659	0.0497	L	0.34521	1.04	0.09310	N	1	P	0.45078	0.85	B	0.37780	0.258	T	0.14504	-1.0470	10	0.15066	T	0.55	-1.4133	4.4975	0.11844	0.6584:0.0:0.2013:0.1403	.	17	Q9H3G5	CPVL_HUMAN	H	17	ENSP00000265394:P17H;ENSP00000379572:P17H;ENSP00000387164:P17H;ENSP00000413287:P17H;ENSP00000412857:P17H	ENSP00000265394:P17H	P	-	2	0	CPVL	29127153	0.003000	0.15002	0.000000	0.03702	0.012000	0.07955	1.649000	0.37281	-0.159000	0.11021	-0.150000	0.13652	CCT		PASS	0.468	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		3	29	3	29	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43506060	43506060	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr7:43506060G>A	ENST00000395891.2	+	15	3411	c.2806G>A	c.(2806-2808)Ggg>Agg	p.G936R	HECW1_ENST00000453890.1_Missense_Mutation_p.G902R	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	936					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G915R(1)|p.G936R(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AAGGAGAGAAGGGTCACTTTC	0.473																																						uc003tid.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(2806-2808)GGG>AGG		NEDD4-like ubiquitin-protein ligase 1							111.0	104.0	106.0					7																	43506060		1947	4135	6082	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43506060G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2806G>A	7.37:g.43506060G>A	ENSP00000379228:p.Gly936Arg					HECW1_uc011kbi.1_Missense_Mutation_p.G902R	p.G936R	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			15	3411	+			936					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.2806G>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749499	0.69533	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	D;D	0.84873	-1.91;-1.91	5.8	5.8	0.92144	.	0.329374	0.37809	N	0.001934	D	0.82953	0.5149	L	0.48642	1.525	0.58432	D	0.999999	B;B	0.21753	0.06;0.026	B;B	0.20384	0.029;0.021	T	0.76937	-0.2774	10	0.37606	T	0.19	.	20.0706	0.97721	0.0:0.0:1.0:0.0	.	902;936	B4DH42;Q76N89	.;HECW1_HUMAN	R	936;902;936	ENSP00000379228:G936R;ENSP00000407774:G902R	ENSP00000265522:G936R	G	+	1	0	HECW1	43472585	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.670000	0.68088	2.744000	0.94065	0.655000	0.94253	GGG		PASS	0.473	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		18	57	18	57	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43547726	43547726	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr7:43547726G>T	ENST00000395891.2	+	23	4467	c.3862G>T	c.(3862-3864)Gag>Tag	p.E1288*	AC011738.4_ENST00000436105.1_RNA|HECW1_ENST00000453890.1_Nonsense_Mutation_p.E1254*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1288	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E1288*(1)|p.E1267*(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGTTGGAGAGGAGGGGTGAGG	0.537																																						uc003tid.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(3862-3864)GAG>TAG		NEDD4-like ubiquitin-protein ligase 1							55.0	57.0	56.0					7																	43547726		1969	4143	6112	SO:0001587	stop_gained	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43547726G>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3862G>T	7.37:g.43547726G>T	ENSP00000379228:p.Glu1288*					HECW1_uc011kbi.1_Nonsense_Mutation_p.E1254*	p.E1288*	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			23	4467	+			1288			HECT.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Nonsense_Mutation	SNP	ENST00000395891.2	37	c.3862G>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	46	12.420590	0.99666	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	20.1669	0.98153	0.0:0.0:1.0:0.0	.	.	.	.	X	1288;1254;1288	.	ENSP00000265522:E1288X	E	+	1	0	HECW1	43514251	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.835000	0.99442	2.770000	0.95276	0.650000	0.86243	GAG		PASS	0.537	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		15	34	15	34	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48314310	48314310	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr7:48314310G>T	ENST00000435803.1	+	17	5071	c.5047G>T	c.(5047-5049)Gaa>Taa	p.E1683*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1683					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E1683*(1)|p.E1628*(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGATCAGCTTGAACAAGTTAG	0.378																																						uc003toq.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(5047-5049)GAA>TAA		ATP binding cassette, sub-family A (ABC1),							129.0	122.0	124.0					7																	48314310		1885	4104	5989	SO:0001587	stop_gained	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48314310G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5047G>T	7.37:g.48314310G>T	ENSP00000411096:p.Glu1683*					ABCA13_uc010kyr.2_Nonsense_Mutation_p.E1186*	p.E1683*	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	5072	+			1683					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	c.5047G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	41	8.579868	0.98872	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.54	3.71	0.42584	.	0.428150	0.19491	N	0.112997	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6166	0.28160	0.0875:0.3208:0.5917:0.0	.	.	.	.	X	1683	.	.	E	+	1	0	ABCA13	48284856	0.011000	0.17503	0.004000	0.12327	0.007000	0.05969	1.642000	0.37207	0.700000	0.31782	-0.265000	0.10407	GAA		PASS	0.378	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		29	111	29	111	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82583933	82583933	+	Silent	SNP	T	T	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr7:82583933T>A	ENST00000333891.9	-	5	6673	c.6336A>T	c.(6334-6336)tcA>tcT	p.S2112S	PCLO_ENST00000423517.2_Silent_p.S2112S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S2112S(2)|p.S2043S(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGACGCTCCTGAGAGAACAC	0.453																																						uc003uhx.2																			3	Substitution - coding silent(3)		lung(3)	ovary(7)	7						c.(6334-6336)TCA>TCT		piccolo isoform 1							69.0	69.0	69.0					7																	82583933		1892	4108	6000	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82583933T>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6336A>T	7.37:g.82583933T>A						PCLO_uc003uhv.2_Silent_p.S2112S	p.S2112S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	6625	-			2043						Silent	SNP	ENST00000333891.9	37	c.6336A>T	CCDS47630.1																																																																																				PASS	0.453	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		14	43	14	43	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88964849	88964849	+	Missense_Mutation	SNP	C	C	A	rs10251768		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr7:88964849C>A	ENST00000333190.4	+	4	3162	c.2553C>A	c.(2551-2553)caC>caA	p.H851Q		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	851							metal ion binding (GO:0046872)	p.H851Q(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)			GAACTCAGCACGACAGATTGG	0.398										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(2551-2553)CAC>CAA		zinc finger protein 804B							61.0	60.0	60.0					7																	88964849		2200	4298	6498	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88964849C>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.2553C>A	7.37:g.88964849C>A	ENSP00000329638:p.His851Gln	HNSCC(36;0.09)					p.H851Q	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3091	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		851					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.2553C>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	2.615	-0.289867	0.05568	.	.	ENSG00000182348	ENST00000333190	T	0.04917	3.53	5.19	-3.25	0.05079	.	0.877394	0.10051	N	0.722238	T	0.03390	0.0098	L	0.27053	0.805	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.45687	-0.9244	10	0.22706	T	0.39	0.001	2.2751	0.04100	0.4054:0.246:0.2196:0.1291	.	851	A4D1E1	Z804B_HUMAN	Q	851	ENSP00000329638:H851Q	ENSP00000329638:H851Q	H	+	3	2	ZNF804B	88802785	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.571000	0.05889	-0.461000	0.06993	-0.905000	0.02835	CAC		PASS	0.398	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		12	42	12	42	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100349951	100349951	+	RNA	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr7:100349951C>A	ENST00000348028.3	+	0	2388				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P741P(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCACCACCCCCACAGAAAAAC	0.517																																						uc003uwj.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(2221-2223)CCC>CCA		zonadhesin isoform 3							116.0	129.0	125.0					7																	100349951		1811	4060	5871			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349951C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349951C>A						ZAN_uc003uwk.2_Silent_p.P741P|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.P741P	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		14	2388	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		741			66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.2223C>A																																																																																					PASS	0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		15	13	15	13	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100678368	100678368	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr7:100678368T>C	ENST00000306151.4	+	3	3735	c.3671T>C	c.(3670-3672)aTg>aCg	p.M1224T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1224	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.M1224T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTAACAAGTATGCCTGTCAGA	0.522																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(3670-3672)ATG>ACG		mucin 17 precursor							316.0	294.0	301.0					7																	100678368		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678368T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3671T>C	7.37:g.100678368T>C	ENSP00000302716:p.Met1224Thr					MUC17_uc010lho.1_RNA	p.M1224T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	3724	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1224			Extracellular (Potential).|Ser-rich.|18.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3671T>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.869819	0.00542	.	.	ENSG00000169876	ENST00000306151	T	0.02197	4.4	0.73	-1.46	0.08800	.	.	.	.	.	T	0.01061	0.0035	N	0.14661	0.345	0.09310	N	1	B	0.33494	0.414	B	0.17098	0.017	T	0.49093	-0.8975	9	0.13853	T	0.58	.	4.5568	0.12140	0.0:0.5171:0.0:0.4829	.	1224	Q685J3	MUC17_HUMAN	T	1224	ENSP00000302716:M1224T	ENSP00000302716:M1224T	M	+	2	0	MUC17	100465088	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.944000	0.01538	-1.233000	0.02551	-1.568000	0.00874	ATG		PASS	0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		91	334	91	334	---	---	---	---
FBXL13	222235	broad.mit.edu	37	7	102669193	102669193	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr7:102669193G>C	ENST00000313221.4	-	4	497	c.71C>G	c.(70-72)aCt>aGt	p.T24S	FBXL13_ENST00000393772.2_Missense_Mutation_p.T24S|RP11-645N11.3_ENST00000447336.1_RNA|FBXL13_ENST00000379305.3_Missense_Mutation_p.T24S|FBXL13_ENST00000455112.2_Missense_Mutation_p.T24S|FBXL13_ENST00000456695.1_Missense_Mutation_p.T24S|FBXL13_ENST00000379306.3_Missense_Mutation_p.T24S|FBXL13_ENST00000436908.1_Missense_Mutation_p.T24S|FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000379308.3_Missense_Mutation_p.T24S	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	24								p.T24S(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GTCTCTCCAAGTGCTGCAGGC	0.313																																						uc003vaq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(70-72)ACT>AGT		F-box and leucine-rich repeat protein 13 isoform							76.0	68.0	71.0					7																	102669193		2203	4300	6503	SO:0001583	missense	222235							g.chr7:102669193G>C	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.71C>G	7.37:g.102669193G>C	ENSP00000321927:p.Thr24Ser					FBXL13_uc010lir.1_Missense_Mutation_p.T24S|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.T24S|FBXL13_uc003vav.2_Intron	p.T24S	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN			4	498	-			24					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.71C>G	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	G	5.207	0.223690	0.09863	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112;ENST00000440067	T;T;T;T;T;T;T;T;T	0.40756	3.31;3.31;3.14;3.31;3.3;3.3;3.14;3.31;1.02	3.94	-3.86	0.04230	.	1.332420	0.05100	N	0.487000	T	0.34803	0.0910	L	0.57536	1.79	0.09310	N	1	B;B;B	0.28933	0.066;0.228;0.179	B;B;B	0.30855	0.03;0.121;0.052	T	0.21415	-1.0246	10	0.21540	T	0.41	.	5.5144	0.16898	0.4663:0.3043:0.2295:0.0	.	24;24;24	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	S	24;24;24;24;24;24;24;24;114	ENSP00000377367:T24S;ENSP00000368610:T24S;ENSP00000368608:T24S;ENSP00000368607:T24S;ENSP00000388608:T24S;ENSP00000321927:T24S;ENSP00000409716:T24S;ENSP00000391550:T24S;ENSP00000390126:T114S	ENSP00000321927:T24S	T	-	2	0	FBXL13	102456429	0.000000	0.05858	0.001000	0.08648	0.575000	0.36095	-0.707000	0.05041	-0.947000	0.03673	0.460000	0.39030	ACT		PASS	0.313	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		14	23	14	23	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103252103	103252103	+	Silent	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr7:103252103C>T	ENST00000428762.1	-	21	3009	c.2850G>A	c.(2848-2850)ctG>ctA	p.L950L	RELN_ENST00000343529.5_Silent_p.L950L|RELN_ENST00000424685.2_Silent_p.L950L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	950					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.L950L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTGAGTACTCCAGCTTCACCT	0.468																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(2848-2850)CTG>CTA		reelin isoform a							153.0	138.0	143.0					7																	103252103		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103252103C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2850G>A	7.37:g.103252103C>T						RELN_uc010liz.2_Silent_p.L950L	p.L950L	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	21	3010	-			950					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.2850G>A	CCDS47680.1																																																																																				PASS	0.468	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		8	33	8	33	---	---	---	---
SLC26A4	5172	broad.mit.edu	37	7	107329636	107329636	+	Silent	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr7:107329636T>C	ENST00000265715.3	+	9	1364	c.1140T>C	c.(1138-1140)gaT>gaC	p.D380D	SLC26A4_ENST00000541474.1_5'Flank|SLC26A4_ENST00000544569.1_5'Flank	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	380					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.D380D(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ACACCATCGATGGGAACCAGG	0.438									Pendred syndrome																													uc003vep.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1138-1140)GAT>GAC		pendrin							153.0	143.0	146.0					7																	107329636		2203	4300	6503	SO:0001819	synonymous_variant	5172	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107329636T>C	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1140T>C	7.37:g.107329636T>C						SLC26A4_uc011kmb.1_5'Flank|SLC26A4_uc011kmc.1_5'Flank	p.D380D	NM_000441	NP_000432	O43511	S26A4_HUMAN			9	1364	+			380			Cytoplasmic (Potential).		B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	c.1140T>C	CCDS5746.1																																																																																				PASS	0.438	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		41	99	41	99	---	---	---	---
LRRN3	54674	broad.mit.edu	37	7	110763776	110763776	+	Silent	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr7:110763776T>C	ENST00000422987.3	+	2	1779	c.948T>C	c.(946-948)gcT>gcC	p.A316A	IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000451085.1_Silent_p.A316A|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000308478.5_Silent_p.A316A|IMMP2L_ENST00000447215.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	316					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A316A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AAATAGAAGCTACTAACAACC	0.418																																						uc003vft.3																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(946-948)GCT>GCC		leucine rich repeat neuronal 3 precursor							83.0	87.0	86.0					7																	110763776		2203	4300	6503	SO:0001819	synonymous_variant	54674					integral to membrane		g.chr7:110763776T>C	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.948T>C	7.37:g.110763776T>C						IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.A316A|LRRN3_uc003vfs.3_Silent_p.A316A	p.A316A	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1994	+			316			Extracellular (Potential).|LRR 11.		O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	37	c.948T>C	CCDS5754.1																																																																																				PASS	0.418	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		20	70	20	70	---	---	---	---
OR2A12	346525	broad.mit.edu	37	7	143792811	143792811	+	Missense_Mutation	SNP	T	T	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr7:143792811T>A	ENST00000408949.2	+	1	671	c.611T>A	c.(610-612)tTc>tAc	p.F204Y		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F204Y(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GGTTCTGCGTTCATCTTAGTG	0.532																																						uc011kty.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(610-612)TTC>TAC		olfactory receptor, family 2, subfamily A,							205.0	199.0	200.0					7																	143792811		2020	4181	6201	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792811T>A		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.611T>A	7.37:g.143792811T>A	ENSP00000386174:p.Phe204Tyr						p.F204Y	NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN			1	611	+	Melanoma(164;0.0783)		204			Helical; Name=5; (Potential).		Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.611T>A	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.394406	0.25205	.	.	ENSG00000221858	ENST00000408949	T	0.40225	1.04	4.23	-1.53	0.08611	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.60143	0.2246	M	0.76433	2.335	0.09310	N	1	D	0.53745	0.962	D	0.66497	0.944	T	0.57545	-0.7793	9	0.72032	D	0.01	-8.5051	12.883	0.58028	0.0:0.0:0.6351:0.3649	.	204	Q8NGT7	O2A12_HUMAN	Y	204	ENSP00000386174:F204Y	ENSP00000386174:F204Y	F	+	2	0	OR2A12	143423744	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.326000	0.19646	-0.437000	0.07243	-0.703000	0.03666	TTC		PASS	0.532	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			37	128	37	128	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147815244	147815244	+	Silent	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr7:147815244A>T	ENST00000361727.3	+	16	2934	c.2418A>T	c.(2416-2418)ccA>ccT	p.P806P		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	806	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.P806P(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCCCAAACCCATCCTCCTACC	0.428										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(2416-2418)CCA>CCT		cell recognition molecule Caspr2 precursor							132.0	134.0	133.0					7																	147815244		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147815244A>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2418A>T	7.37:g.147815244A>T		HNSCC(39;0.1)					p.P806P	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		16	2934	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	806			Laminin G-like 3.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.2418A>T	CCDS5889.1																																																																																				PASS	0.428	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			36	131	36	131	---	---	---	---
GIMAP5	55340	broad.mit.edu	37	7	150440023	150440023	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr7:150440023A>T	ENST00000358647.3	+	3	1163	c.796A>T	c.(796-798)Aac>Tac	p.N266Y	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	266					myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)	p.N266Y(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAACGAGAGTAACTGGGCATA	0.463																																						uc003whr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(796-798)AAC>TAC		GTPase, IMAP family member 5							105.0	77.0	87.0					7																	150440023		2203	4300	6503	SO:0001583	missense	55340					integral to membrane|mitochondrial outer membrane	GTP binding	g.chr7:150440023A>T	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.796A>T	7.37:g.150440023A>T	ENSP00000351473:p.Asn266Tyr					GIMAP5_uc010lpu.2_Missense_Mutation_p.N124Y	p.N266Y	NM_018384	NP_060854	Q96F15	GIMA5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1148	+			266			Cytoplasmic (Potential).		D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	c.796A>T	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.537784	0.45176	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.05996	3.36	4.12	-1.35	0.09114	.	1.329140	0.04762	N	0.426452	T	0.06325	0.0163	L	0.46157	1.445	0.09310	N	1	P	0.47302	0.893	B	0.40901	0.343	T	0.24404	-1.0161	10	0.72032	D	0.01	.	0.7494	0.00987	0.38:0.1759:0.1031:0.341	.	266	Q96F15	GIMA5_HUMAN	Y	266;302	ENSP00000351473:N266Y	ENSP00000351473:N266Y	N	+	1	0	GIMAP5	150070956	0.000000	0.05858	0.000000	0.03702	0.199000	0.23934	-0.081000	0.11321	-0.427000	0.07350	0.455000	0.32223	AAC		PASS	0.463	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		18	38	18	38	---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154561157	154561157	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr7:154561157G>T	ENST00000377770.3	+	9	1055	c.914G>T	c.(913-915)tGg>tTg	p.W305L	DPP6_ENST00000332007.3_Missense_Mutation_p.W243L|DPP6_ENST00000404039.1_Missense_Mutation_p.W241L|DPP6_ENST00000427557.1_Missense_Mutation_p.W198L			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	305					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.W305L(1)|p.W241L(1)|p.W243L(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATCGCACACTGGTGGTCTCCG	0.522																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|breast(1)	4						c.(913-915)TGG>TTG		dipeptidyl-peptidase 6 isoform 1							92.0	93.0	93.0					7																	154561157		2025	4172	6197	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154561157G>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.914G>T	7.37:g.154561157G>T	ENSP00000367001:p.Trp305Leu					DPP6_uc003wli.2_Missense_Mutation_p.W241L|DPP6_uc003wlm.2_Missense_Mutation_p.W243L|DPP6_uc011kvq.1_Missense_Mutation_p.W198L	p.W305L	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		9	1043	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	305			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.914G>T		.	.	.	.	.	.	.	.	.	.	G	22.3	4.272517	0.80580	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.28	5.28	0.74379	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76990	0.4065	H	0.95950	3.745	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.996;0.996	D;D;P;P	0.97110	0.969;1.0;0.883;0.883	D	0.85075	0.0942	10	0.87932	D	0	-13.6258	18.9302	0.92561	0.0:0.0:1.0:0.0	.	198;243;305;241	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	L	241;305;243;198	ENSP00000385578:W241L;ENSP00000367001:W305L;ENSP00000328226:W243L;ENSP00000397303:W198L	ENSP00000328226:W243L	W	+	2	0	DPP6	154192090	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	9.458000	0.97634	2.469000	0.83416	0.655000	0.94253	TGG		PASS	0.522	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		9	48	9	48	---	---	---	---
ERICH1	157697	broad.mit.edu	37	8	614632	614632	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:614632G>T	ENST00000262109.7	-	6	1380	c.1303C>A	c.(1303-1305)Cat>Aat	p.H435N	ERICH1_ENST00000522706.1_Intron	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	435								p.H435N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		GGAAGGATATGTGTGATCCAG	0.323																																						uc003wph.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(1303-1305)CAT>AAT		glutamate-rich 1							102.0	105.0	104.0					8																	614632		2203	4300	6503	SO:0001583	missense	157697							g.chr8:614632G>T		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.1303C>A	8.37:g.614632G>T	ENSP00000262109:p.His435Asn					ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron	p.H435N	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)	6	1368	-		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)	435					A8K2J9|Q9P063	Missense_Mutation	SNP	ENST00000262109.7	37	c.1303C>A	CCDS5955.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015609	0.35511	.	.	ENSG00000104714	ENST00000262109	T	0.32515	1.45	5.88	4.02	0.46733	.	0.224145	0.32687	N	0.005778	T	0.31638	0.0803	L	0.43152	1.355	0.21967	N	0.999448	D	0.56035	0.974	P	0.51415	0.669	T	0.08146	-1.0736	10	0.30854	T	0.27	-12.6191	7.722	0.28738	0.0:0.2154:0.6127:0.1719	.	435	Q86X53	ERIC1_HUMAN	N	435	ENSP00000262109:H435N	ENSP00000262109:H435N	H	-	1	0	ERICH1	604632	1.000000	0.71417	0.546000	0.28166	0.502000	0.33828	2.184000	0.42575	1.442000	0.47568	-0.274000	0.10170	CAT		PASS	0.323	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332		55	51	55	51	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2887023	2887023	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:2887023G>T	ENST00000520002.1	-	52	8231	c.7676C>A	c.(7675-7677)cCc>cAc	p.P2559H	CSMD1_ENST00000602723.1_Missense_Mutation_p.P2559H|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2559H|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2558H|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2559H|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2558H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2559	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.P2287H(1)|p.P2558H(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCAATGCTGGGGCAAGCGAC	0.478																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(7675-7677)CCC>CAC		CUB and Sushi multiple domains 1 precursor							43.0	41.0	42.0					8																	2887023		1982	4172	6154	SO:0001583	missense	64478					integral to membrane		g.chr8:2887023G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7676C>A	8.37:g.2887023G>T	ENSP00000430733:p.Pro2559His					CSMD1_uc011kwj.1_Missense_Mutation_p.P1888H|CSMD1_uc010lrg.2_Missense_Mutation_p.P627H	p.P2559H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	51	8066	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2559			Extracellular (Potential).|Sushi 16.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.7676C>A		.	.	.	.	.	.	.	.	.	.	G	20.2	3.942015	0.73557	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	4.58	4.58	0.56647	Complement control module (2);Sushi/SCR/CCP (2);	0.248556	0.32671	N	0.005798	T	0.55862	0.1947	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	0.986;1.0;0.999	P;D;D	0.83275	0.866;0.996;0.978	T	0.62831	-0.6771	10	0.66056	D	0.02	.	17.9377	0.89018	0.0:0.0:1.0:0.0	.	2559;2559;2558	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	H	2559;2559;2420;2558;2558	ENSP00000383047:P2559H;ENSP00000430733:P2559H;ENSP00000441462:P2558H;ENSP00000446243:P2558H	ENSP00000320445:P2420H	P	-	2	0	CSMD1	2874430	1.000000	0.71417	0.465000	0.27155	0.019000	0.09904	5.185000	0.65076	2.552000	0.86080	0.591000	0.81541	CCC		PASS	0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	6	3	6	---	---	---	---
SLC39A14	23516	broad.mit.edu	37	8	22262248	22262248	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:22262248G>T	ENST00000381237.1	+	2	144	c.25G>T	c.(25-27)Gcc>Tcc	p.A9S	SLC39A14_ENST00000359741.5_Missense_Mutation_p.A9S|SLC39A14_ENST00000289952.5_Missense_Mutation_p.A9S|SLC39A14_ENST00000240095.6_Missense_Mutation_p.A9S	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	9					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)	p.A9S(2)		NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GCTGCACCCGGCCTTCCAGAG	0.602																																						uc003xbq.3																			2	Substitution - Missense(2)		lung(2)		0						c.(25-27)GCC>TCC		solute carrier family 39 (zinc transporter),							74.0	86.0	82.0					8																	22262248		2203	4300	6503	SO:0001583	missense	23516					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	g.chr8:22262248G>T	D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"""Solute carriers"""	20858	protein-coding gene	gene with protein product		608736	"""solute carrier family 39 (metal ion transporter), member 14"""			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.25G>T	8.37:g.22262248G>T	ENSP00000370635:p.Ala9Ser					SLC39A14_uc011kzg.1_Missense_Mutation_p.A9S|SLC39A14_uc003xbp.3_Missense_Mutation_p.A9S|SLC39A14_uc011kzh.1_Missense_Mutation_p.A9S	p.A9S	NM_001128431	NP_001121903	Q15043	S39AE_HUMAN		Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)	2	200	+			9					A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Missense_Mutation	SNP	ENST00000381237.1	37	c.25G>T	CCDS47823.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113875	0.56398	.	.	ENSG00000104635	ENST00000359741;ENST00000520644;ENST00000240095;ENST00000381237;ENST00000289952;ENST00000524285;ENST00000520832;ENST00000519960;ENST00000522881;ENST00000517552	T;T;T;T;T;T;T;T;T;T	0.68181	-0.28;0.64;-0.31;-0.28;-0.28;0.63;0.39;0.71;0.71;0.72	5.66	2.84	0.33178	.	1.487330	0.03636	N	0.238683	T	0.66336	0.2779	M	0.63428	1.95	0.09310	N	1	B;B;B	0.29988	0.264;0.043;0.043	B;B;B	0.28011	0.085;0.016;0.016	T	0.52245	-0.8601	10	0.62326	D	0.03	-1.362	8.6341	0.33936	0.082:0.3278:0.5901:0.0	.	9;9;9	Q15043-2;Q15043;B6EU88	.;S39AE_HUMAN;.	S	9	ENSP00000352779:A9S;ENSP00000428789:A9S;ENSP00000240095:A9S;ENSP00000370635:A9S;ENSP00000289952:A9S;ENSP00000430315:A9S;ENSP00000428905:A9S;ENSP00000430629:A9S;ENSP00000429328:A9S;ENSP00000430564:A9S	ENSP00000240095:A9S	A	+	1	0	SLC39A14	22318193	0.000000	0.05858	0.000000	0.03702	0.520000	0.34377	0.669000	0.25142	0.301000	0.22738	0.462000	0.41574	GCC		PASS	0.602	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		78	63	78	63	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35606178	35606178	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:35606178C>G	ENST00000404895.2	+	12	2228	c.1900C>G	c.(1900-1902)Cat>Gat	p.H634D	UNC5D_ENST00000416672.1_Missense_Mutation_p.H639D|UNC5D_ENST00000453357.2_Missense_Mutation_p.H629D|UNC5D_ENST00000287272.2_Missense_Mutation_p.H565D|UNC5D_ENST00000449677.1_Missense_Mutation_p.H210D|UNC5D_ENST00000420357.1_Missense_Mutation_p.H567D	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	634	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.H629D(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTGGAATATCCATTTAAAGAA	0.463																																						uc003xjr.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1900-1902)CAT>GAT		unc-5 homolog D precursor							146.0	132.0	137.0					8																	35606178		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35606178C>G	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1900C>G	8.37:g.35606178C>G	ENSP00000385143:p.His634Asp					UNC5D_uc003xjs.1_Missense_Mutation_p.H629D|UNC5D_uc003xju.1_Missense_Mutation_p.H210D	p.H634D	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	12	2228	+			634			ZU5.|Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1900C>G	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090112	0.55968	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	6.07	6.07	0.98685	ZU5 (2);	0.232836	0.52532	D	0.000074	T	0.36248	0.0960	N	0.22421	0.69	0.48395	D	0.999641	B;B;B	0.30973	0.302;0.257;0.302	B;B;B	0.30855	0.113;0.074;0.121	T	0.17137	-1.0379	10	0.66056	D	0.02	-20.0489	20.6593	0.99626	0.0:1.0:0.0:0.0	.	210;629;634	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	D	634;567;565;639;629;210	ENSP00000385143:H634D;ENSP00000392739:H567D;ENSP00000287272:H565D;ENSP00000412652:H639D;ENSP00000394303:H629D;ENSP00000397211:H210D	ENSP00000287272:H565D	H	+	1	0	UNC5D	35725720	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.224000	0.58593	2.885000	0.99019	0.655000	0.94253	CAT		PASS	0.463	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			53	86	53	86	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38157060	38157060	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:38157060T>C	ENST00000317025.8	-	15	3177	c.2660A>G	c.(2659-2661)tAt>tGt	p.Y887C	WHSC1L1_ENST00000433384.2_Intron|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.Y887C	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	887					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.Y887C(1)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GTGGGACTTATAGGCATATGA	0.403			T	NUP98	AML																																	uc003xli.2				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(2659-2661)TAT>TGT		WHSC1L1 protein isoform long							115.0	107.0	110.0					8																	38157060		1897	4110	6007	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38157060T>C	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.2660A>G	8.37:g.38157060T>C	ENSP00000313983:p.Tyr887Cys					WHSC1L1_uc011lbm.1_Missense_Mutation_p.Y887C|WHSC1L1_uc010lwe.2_Intron	p.Y887C	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		15	3178	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	887			PHD-type 3.		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.2660A>G	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.455843	0.63401	.	.	ENSG00000147548	ENST00000317025;ENST00000446459;ENST00000527502	D;D	0.95788	-3.8;-3.81	5.83	5.83	0.93111	.	0.000000	0.44097	U	0.000498	D	0.92811	0.7714	N	0.22421	0.69	0.80722	D	1	P;P	0.51653	0.947;0.947	P;P	0.49708	0.62;0.62	D	0.92884	0.6325	10	0.54805	T	0.06	.	11.2967	0.49282	0.136:0.0:0.0:0.864	.	887;887	B7ZL11;Q9BZ95	.;NSD3_HUMAN	C	887;824;887	ENSP00000313983:Y887C;ENSP00000434730:Y887C	ENSP00000313983:Y887C	Y	-	2	0	WHSC1L1	38276217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.522000	0.60539	2.217000	0.71921	0.528000	0.53228	TAT		PASS	0.403	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		247	51	247	51	---	---	---	---
ANK1	286	broad.mit.edu	37	8	41753903	41753903	+	Silent	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:41753903C>G	ENST00000265709.8	-	1	377	c.96G>C	c.(94-96)cgG>cgC	p.R32R		NM_001142446.1	NP_001135918.1	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	0	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.R32R(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGCGGTTTCTCCGCTTCCTGT	0.627																																						uc003xom.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(94-96)CGG>CGC		ankyrin 1 isoform 9							67.0	61.0	63.0					8																	41753903		1568	3582	5150	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41753903C>G	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000265709.8:c.96G>C	8.37:g.41753903C>G							p.R32R	NM_001142446	NP_001135918	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		1	378	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	Error:Variant_position_missing_in_P16157_after_alignment					A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000265709.8	37	c.96G>C	CCDS47849.1																																																																																				PASS	0.627	ANK1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377171.1	NM_020475		20	74	20	74	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41792162	41792162	+	Silent	SNP	G	G	A	rs61753682		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:41792162G>A	ENST00000396930.3	-	18	4119	c.3576C>T	c.(3574-3576)atC>atT	p.I1192I	KAT6A_ENST00000406337.1_Silent_p.I1192I|KAT6A_ENST00000265713.2_Silent_p.I1192I	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1192					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.I1192I(1)									GAATGGAAACGATGGGCTCAA	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19177	0.0		0.0	False		,,,				2504	0.0					uc010lxb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(3574-3576)ATC>ATT		MYST histone acetyltransferase (monocytic		G	,,	1,4405	2.1+/-5.4	0,1,2202	163.0	155.0	157.0		3576,3576,3576	-11.5	0.0	8	dbSNP_129	157	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	KAT6A	NM_001099412.1,NM_001099413.1,NM_006766.3	,,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,,	1192/2005,1192/2005,1192/2005	41792162	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41792162G>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3576C>T	8.37:g.41792162G>A						MYST3_uc010lxc.2_Silent_p.I1192I|MYST3_uc003xon.3_Silent_p.I1192I	p.I1192I	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		18	4120	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	1192					Q76L81	Silent	SNP	ENST00000396930.3	37	c.3576C>T	CCDS6124.1																																																																																				PASS	0.478	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		216	138	216	138	---	---	---	---
TGS1	96764	broad.mit.edu	37	8	56698931	56698931	+	Silent	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:56698931T>C	ENST00000260129.5	+	4	951	c.474T>C	c.(472-474)tcT>tcC	p.S158S		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	158					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)	p.S158S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			ATGATCCATCTTCAATTGAAC	0.328																																					Esophageal Squamous(34;275 823 4842 34837 48447)	uc003xsj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(472-474)TCT>TCC		trimethylguanosine synthase homolog							52.0	53.0	53.0					8																	56698931		2203	4300	6503	SO:0001819	synonymous_variant	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56698931T>C	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.474T>C	8.37:g.56698931T>C						TGS1_uc010lyh.2_Silent_p.S62S	p.S158S	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		4	861	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	158					A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Silent	SNP	ENST00000260129.5	37	c.474T>C	CCDS34894.1																																																																																				PASS	0.328	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		15	49	15	49	---	---	---	---
TRIM55	84675	broad.mit.edu	37	8	67047317	67047317	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:67047317C>A	ENST00000315962.4	+	3	807	c.434C>A	c.(433-435)tCt>tAt	p.S145Y	TRIM55_ENST00000353317.5_Missense_Mutation_p.S145Y|TRIM55_ENST00000350034.4_Missense_Mutation_p.S145Y|TRIM55_ENST00000276573.7_Missense_Mutation_p.S145Y	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	145					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.S145Y(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CCCACCTGCTCTCTGTGCAAG	0.557																																						uc003xvv.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(433-435)TCT>TAT		tripartite motif-containing 55 isoform 1							201.0	163.0	176.0					8																	67047317		2203	4300	6503	SO:0001583	missense	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67047317C>A	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.434C>A	8.37:g.67047317C>A	ENSP00000323913:p.Ser145Tyr					TRIM55_uc003xvu.2_Missense_Mutation_p.S145Y|TRIM55_uc003xvw.2_Missense_Mutation_p.S145Y|TRIM55_uc003xvx.2_Missense_Mutation_p.S145Y	p.S145Y	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		3	660	+		Lung NSC(129;0.138)|all_lung(136;0.221)	145			B box-type.		B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	c.434C>A	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463125	0.84425	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573;ENST00000350034	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.65	4.78	0.61160	Zinc finger, B-box (3);	0.000000	0.85682	D	0.000000	T	0.63558	0.2521	M	0.75615	2.305	0.52099	D	0.999941	D;D;D;P	0.89917	1.0;1.0;1.0;0.934	D;D;D;P	0.91635	0.997;0.993;0.999;0.561	T	0.64166	-0.6471	10	0.37606	T	0.19	.	14.582	0.68298	0.0:0.9298:0.0:0.0702	.	145;145;145;145	Q9BYV6-4;Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;.;TRI55_HUMAN;.	Y	145	ENSP00000323913:S145Y;ENSP00000297348:S145Y;ENSP00000276573:S145Y;ENSP00000332302:S145Y	ENSP00000276573:S145Y	S	+	2	0	TRIM55	67209871	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	7.792000	0.85828	1.392000	0.46585	0.655000	0.94253	TCT		PASS	0.557	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		31	125	31	125	---	---	---	---
MCMDC2	157777	broad.mit.edu	37	8	67809057	67809057	+	Missense_Mutation	SNP	T	T	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:67809057T>G	ENST00000422365.2	+	12	1660	c.1489T>G	c.(1489-1491)Tta>Gta	p.L497V	MCMDC2_ENST00000313616.5_Missense_Mutation_p.L497V|MCMDC2_ENST00000541540.1_Missense_Mutation_p.L434V|MCMDC2_ENST00000396592.3_Missense_Mutation_p.L497V	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	497					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.L497V(2)|p.L492V(1)		endometrium(2)|kidney(2)|lung(5)	9						GGCATTTGGTTTATTGATTAA	0.398																																						uc003xwz.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(1489-1491)TTA>GTA		minichromosome maintenance complex							202.0	196.0	198.0					8																	67809057		2203	4300	6503	SO:0001583	missense	157777				DNA replication		ATP binding|DNA binding	g.chr8:67809057T>G	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1489T>G	8.37:g.67809057T>G	ENSP00000413632:p.Leu497Val					C8orf45_uc011lev.1_Missense_Mutation_p.L497V|C8orf45_uc011lew.1_Missense_Mutation_p.L428V|C8orf45_uc011lex.1_Missense_Mutation_p.L255V|C8orf45_uc003xwy.3_Missense_Mutation_p.L497V	p.L497V	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)		12	1660	+	Breast(64;0.186)		497					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	c.1489T>G	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	T	20.6	4.015887	0.75161	.	.	ENSG00000178460	ENST00000396592;ENST00000422365;ENST00000313616;ENST00000541540	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.51	4.2	0.49525	.	0.072669	0.56097	D	0.000029	T	0.40145	0.1105	M	0.61703	1.905	0.41488	D	0.9882	D;D;D	0.63046	0.99;0.992;0.984	P;P;P	0.61070	0.814;0.883;0.802	T	0.44390	-0.9331	10	0.46703	T	0.11	-11.7197	1.8537	0.03174	0.2713:0.1779:0.0:0.5508	.	434;497;497	Q4G0Z9-4;Q4G0Z9;B4DXX4	.;CH045_HUMAN;.	V	497;497;497;434	ENSP00000379837:L497V;ENSP00000413632:L497V;ENSP00000317234:L497V;ENSP00000445629:L434V	ENSP00000317234:L497V	L	+	1	2	C8orf45	67971611	0.990000	0.36364	1.000000	0.80357	0.951000	0.60555	1.927000	0.40094	2.230000	0.72887	0.528000	0.53228	TTA		PASS	0.398	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		8	288	8	288	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767580	77767580	+	Missense_Mutation	SNP	C	C	A	rs372591784		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:77767580C>A	ENST00000521891.2	+	10	8871	c.8423C>A	c.(8422-8424)aCg>aAg	p.T2808K	ZFHX4_ENST00000050961.6_Missense_Mutation_p.T2763K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T2782K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T2763K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2763					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.T2792K(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)			TCGATTAATACGGCAATCAGT	0.473										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8287-8289)ACG>AAG		zinc finger homeodomain 4							44.0	44.0	44.0					8																	77767580		1945	4149	6094	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767580C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8423C>A	8.37:g.77767580C>A	ENSP00000430497:p.Thr2808Lys	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.T2808K|ZFHX4_uc003yaw.1_Missense_Mutation_p.T2763K	p.T2763K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8675	+			2763					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8288C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836527	0.32421	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.64085	-0.08;-0.0;-0.03;-0.04	4.82	4.82	0.62117	.	0.000000	0.45867	U	0.000339	T	0.76198	0.3954	L	0.55990	1.75	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.87578	0.996;0.998;0.998	T	0.78529	-0.2169	10	0.72032	D	0.01	.	18.0917	0.89477	0.0:1.0:0.0:0.0	.	2763;2763;2808	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	K	2808;2792;2763;2763;2782	ENSP00000430497:T2808K;ENSP00000399605:T2763K;ENSP00000050961:T2763K;ENSP00000430848:T2782K	ENSP00000050961:T2763K	T	+	2	0	ZFHX4	77930135	1.000000	0.71417	0.186000	0.23195	0.241000	0.25554	7.651000	0.83577	2.513000	0.84729	0.555000	0.69702	ACG		PASS	0.473	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		21	54	21	54	---	---	---	---
WWP1	11059	broad.mit.edu	37	8	87423845	87423845	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:87423845C>T	ENST00000517970.1	+	9	1110	c.803C>T	c.(802-804)gCc>gTc	p.A268V	WWP1_ENST00000341922.2_Missense_Mutation_p.A138V|WWP1_ENST00000265428.4_Missense_Mutation_p.A268V|WWP1_ENST00000349423.2_Missense_Mutation_p.A50V	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	268					central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.A268V(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GAAGAAAATGCCTTGTCTCCA	0.393																																						uc003ydt.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|liver(1)	2						c.(802-804)GCC>GTC		WW domain containing E3 ubiquitin protein ligase							125.0	118.0	120.0					8																	87423845		2203	4300	6503	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87423845C>T	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.803C>T	8.37:g.87423845C>T	ENSP00000427793:p.Ala268Val					WWP1_uc010mai.2_Missense_Mutation_p.A44V	p.A268V	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN			9	1083	+			268					O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.803C>T	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081646	0.36758	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.46063	0.88;0.88;0.93;0.91	5.46	3.65	0.41850	.	1.059420	0.07248	N	0.865346	T	0.25269	0.0614	N	0.08118	0	0.09310	N	0.999999	B;B	0.18741	0.013;0.03	B;B	0.18561	0.013;0.022	T	0.26744	-1.0094	10	0.25751	T	0.34	.	9.4846	0.38922	0.0:0.7817:0.1429:0.0754	.	50;268	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	V	268;268;138;50	ENSP00000427793:A268V;ENSP00000265428:A268V;ENSP00000340564:A138V;ENSP00000342665:A50V	ENSP00000265428:A268V	A	+	2	0	WWP1	87492961	0.029000	0.19370	0.001000	0.08648	0.993000	0.82548	3.268000	0.51585	0.669000	0.31146	0.650000	0.86243	GCC		PASS	0.393	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		11	96	11	96	---	---	---	---
RAD54B	25788	broad.mit.edu	37	8	95416346	95416346	+	Silent	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:95416346T>C	ENST00000336148.5	-	6	1027	c.903A>G	c.(901-903)aaA>aaG	p.K301K		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	301					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)	p.K301K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TGATTCCTTCTTTCTGATGTG	0.333								Direct reversal of damage;Homologous recombination																														uc003ygk.2																			1	Substitution - coding silent(1)		lung(1)	kidney(2)|lung(1)|skin(1)	4						c.(901-903)AAA>AAG	Direct_reversal_of_damage|Homologous_recombination	RAD54 homolog B							91.0	79.0	83.0					8																	95416346		2203	4300	6503	SO:0001819	synonymous_variant	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95416346T>C	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.903A>G	8.37:g.95416346T>C						RAD54B_uc010may.1_Silent_p.K108K|RAD54B_uc003ygl.1_RNA	p.K301K	NM_012415	NP_036547	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		6	1001	-	Breast(36;4.5e-05)		Error:Variant_position_missing_in_O95073_after_alignment					F6WBS8	Silent	SNP	ENST00000336148.5	37	c.903A>G	CCDS6262.1																																																																																				PASS	0.333	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		23	22	23	22	---	---	---	---
MATN2	4147	broad.mit.edu	37	8	98973703	98973703	+	Missense_Mutation	SNP	C	C	G	rs374362031	byFrequency	TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:98973703C>G	ENST00000520016.1	+	4	1027	c.903C>G	c.(901-903)ttC>ttG	p.F301L	MATN2_ENST00000521689.1_Missense_Mutation_p.F301L|MATN2_ENST00000524308.1_Missense_Mutation_p.F301L|MATN2_ENST00000522025.2_Missense_Mutation_p.F17L|MATN2_ENST00000254898.5_Missense_Mutation_p.F301L			O00339	MATN2_HUMAN	matrilin 2	301	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.F301L(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CGGGCTCCTTCGTCTGCCAGT	0.557																																						uc003yic.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(901-903)TTC>TTG		matrilin 2 isoform a precursor							104.0	110.0	108.0					8																	98973703		2099	4231	6330	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98973703C>G	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.903C>G	8.37:g.98973703C>G	ENSP00000430487:p.Phe301Leu					MATN2_uc003yib.1_Missense_Mutation_p.F301L|MATN2_uc010mbh.1_Missense_Mutation_p.F301L|MATN2_uc003yid.2_Missense_Mutation_p.F301L|MATN2_uc003yie.1_Missense_Mutation_p.F301L|MATN2_uc010mbi.1_Intron	p.F301L	NM_002380	NP_002371	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		5	1134	+	Breast(36;1.43e-06)		301			EGF-like 2.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.903C>G	CCDS55264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.17|19.17	3.775746|3.775746	0.70107|0.70107	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016;ENST00000519585|ENST00000521041	D;D;D;D;D;D|.	0.95853|.	-3.83;-3.83;-3.83;-3.83;-3.83;-3.07|.	4.67|4.67	-7.01|-7.01	0.01594|0.01594	Epidermal growth factor-like (1);EGF-like calcium-binding (1);|.	0.112392|.	0.40144|.	N|.	0.001162|.	T|T	0.70587|0.70587	0.3241|0.3241	M|M	0.93594|0.93594	3.435|3.435	0.28607|0.28607	N|N	0.908846|0.908846	P;P;P|.	0.42941|.	0.591;0.794;0.589|.	B;P;B|.	0.53450|.	0.355;0.726;0.196|.	T|T	0.73142|0.73142	-0.4076|-0.4076	10|5	0.66056|.	D|.	0.02|.	-18.4671|-18.4671	13.4733|13.4733	0.61292|0.61292	0.0:0.2929:0.0:0.7071|0.0:0.2929:0.0:0.7071	.|.	301;301;301|.	O00339-2;O00339;Q8N2G3|.	.;MATN2_HUMAN;.|.	L|G	301;301;301;301;17;301;17|56	ENSP00000429977:F301L;ENSP00000254898:F301L;ENSP00000430221:F301L;ENSP00000429010:F17L;ENSP00000430487:F301L;ENSP00000429042:F17L|.	ENSP00000254898:F301L|.	F|R	+|+	3|1	2|0	MATN2|MATN2	99042879|99042879	0.007000|0.007000	0.16637|0.16637	0.623000|0.623000	0.29173|0.29173	0.998000|0.998000	0.95712|0.95712	-1.978000|-1.978000	0.01494|0.01494	-1.816000|-1.816000	0.01221|0.01221	0.655000|0.655000	0.94253|0.94253	TTC|CGT		PASS	0.557	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			23	99	23	99	---	---	---	---
POP1	10940	broad.mit.edu	37	8	99168342	99168342	+	Missense_Mutation	SNP	T	T	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:99168342T>A	ENST00000401707.2	+	15	2203	c.2122T>A	c.(2122-2124)Tgg>Agg	p.W708R	POP1_ENST00000349693.3_Missense_Mutation_p.W708R	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	708					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)	p.W708R(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTGCTGTCCCTGGGAGCAGTT	0.478																																						uc003yij.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(2122-2124)TGG>AGG		processing of precursor 1							107.0	101.0	103.0					8																	99168342		2203	4300	6503	SO:0001583	missense	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99168342T>A	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.2122T>A	8.37:g.99168342T>A	ENSP00000385787:p.Trp708Arg					POP1_uc011lgv.1_Missense_Mutation_p.W708R|POP1_uc003yik.2_Missense_Mutation_p.W708R	p.W708R	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		15	2222	+	Breast(36;1.78e-06)		708					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.2122T>A	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.615225	0.87359	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.64991	-0.13;-0.13	5.56	5.56	0.83823	POPLD (1);	0.000000	0.85682	D	0.000000	D	0.82440	0.5037	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86261	0.1655	10	0.87932	D	0	-2.6687	14.2909	0.66278	0.0:0.0:0.0:1.0	.	708	Q99575	POP1_HUMAN	R	708	ENSP00000385787:W708R;ENSP00000339529:W708R	ENSP00000339529:W708R	W	+	1	0	POP1	99237518	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.305000	0.78891	2.108000	0.64289	0.482000	0.46254	TGG		PASS	0.478	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		33	125	33	125	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100654301	100654301	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:100654301G>T	ENST00000358544.2	+	34	5669	c.5558G>T	c.(5557-5559)tGt>tTt	p.C1853F	VPS13B_ENST00000357162.2_Missense_Mutation_p.C1828F|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1853					protein transport (GO:0015031)			p.C1853F(1)|p.C1828F(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACCTATTCCTGTATGGCCTTA	0.353																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(5557-5559)TGT>TTT		vacuolar protein sorting 13B isoform 5							70.0	72.0	71.0					8																	100654301		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100654301G>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.5558G>T	8.37:g.100654301G>T	ENSP00000351346:p.Cys1853Phe					VPS13B_uc003yiw.2_Missense_Mutation_p.C1828F	p.C1853F	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		34	5669	+	Breast(36;3.73e-07)		1853					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.5558G>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762047	0.31228	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.68479	-0.32;-0.33	5.73	2.85	0.33270	.	0.169117	0.51477	D	0.000088	T	0.56411	0.1983	N	0.19112	0.55	0.80722	D	1	P;P	0.40875	0.731;0.612	B;B	0.41088	0.347;0.347	T	0.61083	-0.7134	10	0.87932	D	0	.	17.5771	0.87953	0.0:0.4841:0.5159:0.0	.	1828;1853	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	F	1828;1853	ENSP00000349685:C1828F;ENSP00000351346:C1853F	ENSP00000349685:C1828F	C	+	2	0	VPS13B	100723477	0.997000	0.39634	0.342000	0.25602	0.972000	0.66771	2.534000	0.45676	0.306000	0.22856	-0.176000	0.13171	TGT		PASS	0.353	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		21	55	21	55	---	---	---	---
ODF1	4956	broad.mit.edu	37	8	103564205	103564205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:103564205C>T	ENST00000285402.3	+	1	406	c.250C>T	c.(250-252)Cga>Tga	p.R84*		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	84					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)		p.R84*(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			TTACTGTCTGCGACCATCTCT	0.433																																						uc003ykt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(250-252)CGA>TGA		outer dense fiber of sperm tails 1							167.0	147.0	154.0					8																	103564205		2203	4300	6503	SO:0001587	stop_gained	4956				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	g.chr8:103564205C>T	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.250C>T	8.37:g.103564205C>T	ENSP00000285402:p.Arg84*						p.R84*	NM_024410	NP_077721	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		1	358	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		84					Q3SX72	Nonsense_Mutation	SNP	ENST00000285402.3	37	c.250C>T	CCDS6293.1	.	.	.	.	.	.	.	.	.	.	C	36	5.910451	0.97093	.	.	ENSG00000155087	ENST00000285402	.	.	.	5.83	5.83	0.93111	.	0.153031	0.31010	N	0.008422	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.3098	15.6153	0.76760	0.0:1.0:0.0:0.0	.	.	.	.	X	84	.	ENSP00000285402:R84X	R	+	1	2	ODF1	103633381	0.995000	0.38212	0.995000	0.50966	0.441000	0.31987	3.754000	0.55189	2.750000	0.94351	0.655000	0.94253	CGA		PASS	0.433	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			17	135	17	135	---	---	---	---
DCSTAMP	81501	broad.mit.edu	37	8	105361137	105361137	+	Silent	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:105361137A>G	ENST00000297581.2	+	2	406	c.357A>G	c.(355-357)aaA>aaG	p.K119K	DCSTAMP_ENST00000517991.1_Silent_p.K119K|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	119					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.K119K(1)									ACAACTTTAAAGGTCTCCTAG	0.408																																						uc003ylx.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|large_intestine(1)|ovary(1)	4						c.(355-357)AAA>AAG		dendritic cell-specific transmembrane protein							67.0	71.0	70.0					8																	105361137		2203	4300	6503	SO:0001819	synonymous_variant	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361137A>G	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.357A>G	8.37:g.105361137A>G							p.K119K	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	406	+			119					B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	ENST00000297581.2	37	c.357A>G	CCDS6301.1																																																																																				PASS	0.408	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		29	50	29	50	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110488812	110488812	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:110488812G>T	ENST00000378402.5	+	52	8937	c.8833G>T	c.(8833-8835)Ggt>Tgt	p.G2945C		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2945					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G2947C(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TATGAGGAATGGTTCCTCAAA	0.333										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(8833-8835)GGT>TGT		fibrocystin L precursor							47.0	47.0	47.0					8																	110488812		1849	4084	5933	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110488812G>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8833G>T	8.37:g.110488812G>T	ENSP00000367655:p.Gly2945Cys	HNSCC(38;0.096)					p.G2945C	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		52	8937	+			2945			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.8833G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583385	0.86748	.	.	ENSG00000205038	ENST00000378402	D	0.87179	-2.22	5.79	5.79	0.91817	.	0.061604	0.64402	D	0.000005	D	0.91061	0.7187	M	0.62723	1.935	0.45515	D	0.998474	D	0.64830	0.994	P	0.56865	0.808	D	0.91419	0.5157	10	0.66056	D	0.02	.	17.5246	0.87796	0.0:0.0:1.0:0.0	.	2945	Q86WI1	PKHL1_HUMAN	C	2945	ENSP00000367655:G2945C	ENSP00000367655:G2945C	G	+	1	0	PKHD1L1	110557988	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.733000	0.84916	2.732000	0.93576	0.585000	0.79938	GGT		PASS	0.333	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		3	21	3	21	---	---	---	---
SNTB1	6641	broad.mit.edu	37	8	121644760	121644760	+	Missense_Mutation	SNP	T	T	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:121644760T>A	ENST00000395601.3	-	4	1334	c.920A>T	c.(919-921)gAg>gTg	p.E307V	SNTB1_ENST00000517992.1_Missense_Mutation_p.E307V|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	307					muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)		p.E307V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CTCTCTGACCTCAGCAATCAC	0.532																																						uc010mdg.2																			1	Substitution - Missense(1)		lung(1)	skin(5)	5						c.(919-921)GAG>GTG		basic beta 1 syntrophin							102.0	86.0	92.0					8																	121644760		2203	4300	6503	SO:0001583	missense	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121644760T>A	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.920A>T	8.37:g.121644760T>A	ENSP00000378965:p.Glu307Val					SNTB1_uc003ype.2_Missense_Mutation_p.E307V	p.E307V	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		3	1146	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		307					A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	ENST00000395601.3	37	c.920A>T	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	T	32	5.130020	0.94473	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.45668	0.89;0.89	6.04	6.04	0.98038	.	0.139970	0.64402	D	0.000005	T	0.58581	0.2132	M	0.77486	2.375	0.80722	D	1	D;P	0.55172	0.97;0.731	P;B	0.52031	0.688;0.259	T	0.63892	-0.6534	10	0.66056	D	0.02	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	307;307	Q13884;Q13884-2	SNTB1_HUMAN;.	V	307	ENSP00000378965:E307V;ENSP00000431124:E307V	ENSP00000378965:E307V	E	-	2	0	SNTB1	121713941	0.999000	0.42202	0.964000	0.40570	0.990000	0.78478	7.539000	0.82063	2.317000	0.78254	0.459000	0.35465	GAG		PASS	0.532	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		25	36	25	36	---	---	---	---
ST3GAL1	6482	broad.mit.edu	37	8	134472094	134472094	+	Missense_Mutation	SNP	C	C	A	rs376436101		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:134472094C>A	ENST00000319914.5	-	9	1963	c.936G>T	c.(934-936)aaG>aaT	p.K312N	ST3GAL1_ENST00000521180.1_Missense_Mutation_p.K312N|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.K312N|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.K312N			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	312					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)	p.K312N(1)		endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GCACCCCCGTCTTGCGAAAAG	0.572																																						uc003yuk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(934-936)AAG>AAT		ST3 beta-galactoside alpha-2,3-sialyltransferase							162.0	154.0	157.0					8																	134472094		2203	4300	6503	SO:0001583	missense	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134472094C>A	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.936G>T	8.37:g.134472094C>A	ENSP00000318445:p.Lys312Asn					ST3GAL1_uc003yum.2_Missense_Mutation_p.K312N	p.K312N	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		10	1765	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		312			Lumenal (Potential).		O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	c.936G>T	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576843	0.45902	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	4.99	3.86	0.44501	.	0.195992	0.53938	D	0.000042	T	0.20210	0.0486	L	0.33668	1.02	0.37945	D	0.932461	B	0.33238	0.403	B	0.30251	0.113	T	0.09997	-1.0649	10	0.48119	T	0.1	-4.2964	7.9477	0.29995	0.0:0.782:0.0:0.218	.	312	Q11201	SIA4A_HUMAN	N	312	ENSP00000318445:K312N;ENSP00000414073:K312N;ENSP00000428540:K312N;ENSP00000430515:K312N	ENSP00000318445:K312N	K	-	3	2	ST3GAL1	134541276	1.000000	0.71417	0.998000	0.56505	0.617000	0.37484	1.312000	0.33574	2.482000	0.83794	0.561000	0.74099	AAG		PASS	0.572	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		64	137	64	137	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139164107	139164107	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:139164107G>A	ENST00000395297.1	-	13	2781	c.2611C>T	c.(2611-2613)Cca>Tca	p.P871S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	871								p.P871S(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCAACACCTGGAGTGTTCTCA	0.488										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(2611-2613)CCA>TCA		hypothetical protein LOC51059							110.0	93.0	99.0					8																	139164107		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139164107G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2611C>T	8.37:g.139164107G>A	ENSP00000378710:p.Pro871Ser	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.P772S|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.P433S|FAM135B_uc003yvb.2_Missense_Mutation_p.P433S	p.P871S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2782	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		871					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2611C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	0.150	-1.092654	0.01858	.	.	ENSG00000147724	ENST00000395297	T	0.13901	2.55	5.33	-0.499	0.12015	.	0.988166	0.08256	N	0.973872	T	0.08179	0.0204	L	0.29908	0.895	0.09310	N	1	B;B;B	0.20052	0.041;0.023;0.003	B;B;B	0.14578	0.011;0.007;0.003	T	0.41822	-0.9487	10	0.23891	T	0.37	0.0415	2.8286	0.05492	0.1833:0.3689:0.3233:0.1245	.	871;871;871	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	S	871	ENSP00000378710:P871S	ENSP00000276737:P871S	P	-	1	0	FAM135B	139233289	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.218000	0.09240	-0.011000	0.14247	-0.868000	0.02995	CCA		PASS	0.488	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		58	87	58	87	---	---	---	---
RHPN1	114822	broad.mit.edu	37	8	144461552	144461552	+	Silent	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:144461552C>T	ENST00000289013.6	+	8	920	c.819C>T	c.(817-819)ctC>ctT	p.L273L		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	273	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)	p.L273L(2)		endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CTGCGTCCCTCTGCGCACTGG	0.667																																						uc003yyb.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)	1						c.(817-819)CTC>CTT		rhophilin 1							18.0	21.0	20.0					8																	144461552		2043	4185	6228	SO:0001819	synonymous_variant	114822				signal transduction	intracellular		g.chr8:144461552C>T	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.819C>T	8.37:g.144461552C>T							p.L273L	NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)		8	952	+	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		273			BRO1.		Q8TAV1|Q96PV9	Silent	SNP	ENST00000289013.6	37	c.819C>T	CCDS47927.1																																																																																				PASS	0.667	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1			3	12	3	12	---	---	---	---
GPT	2875	broad.mit.edu	37	8	145732168	145732168	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr8:145732168G>A	ENST00000528431.1	+	11	1499	c.1342G>A	c.(1342-1344)Ggc>Agc	p.G448S	GPT_ENST00000394955.2_Missense_Mutation_p.G448S|MFSD3_ENST00000301327.4_5'Flank			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	448					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)	p.G448S(1)		central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	GGAGGAGACCGGCATCTGCGT	0.701																																						uc011lli.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1342-1344)GGC>AGC		glutamic pyruvate transaminase	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						34.0	35.0	35.0					8																	145732168		2200	4295	6495	SO:0001583	missense	2875				gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr8:145732168G>A		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.1342G>A	8.37:g.145732168G>A	ENSP00000433586:p.Gly448Ser					GPT_uc003zdh.3_Missense_Mutation_p.G448S|MFSD3_uc003zdi.1_5'Flank	p.G448S	NM_005309	NP_005300	P24298	ALAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		11	1499	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		448					B0YJ18|D3DWM7|P78398|Q93076	Missense_Mutation	SNP	ENST00000528431.1	37	c.1342G>A	CCDS6430.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602564	0.87157	.	.	ENSG00000167701	ENST00000528431;ENST00000394955	T;T	0.36340	1.26;1.26	4.54	4.54	0.55810	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.73705	0.3621	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84597	0.0670	10	0.87932	D	0	-31.0712	14.7792	0.69754	0.0:0.0:1.0:0.0	.	448	P24298	ALAT1_HUMAN	S	448	ENSP00000433586:G448S;ENSP00000378408:G448S	ENSP00000378408:G448S	G	+	1	0	GPT	145702976	1.000000	0.71417	0.985000	0.45067	0.499000	0.33736	7.570000	0.82390	2.044000	0.60594	0.561000	0.74099	GGC		PASS	0.701	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			13	35	13	35	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18504834	18504834	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr9:18504834G>T	ENST00000380548.4	+	2	410	c.71G>T	c.(70-72)aGg>aTg	p.R24M	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.R24M|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.R24M|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.R24M|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.R24M|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R24M	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	24						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R24M(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CAGAGTTCCAGGACCGCACGC	0.567																																						uc003zne.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(70-72)AGG>ATG		ADAMTS-like 1 isoform 4 precursor							71.0	77.0	75.0					9																	18504834		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18504834G>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.71G>T	9.37:g.18504834G>T	ENSP00000369921:p.Arg24Met					ADAMTSL1_uc003znb.2_Missense_Mutation_p.R24M|ADAMTSL1_uc003znc.3_Missense_Mutation_p.R24M	p.R24M	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	2	198	+			24					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.71G>T	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046410	0.93740	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000431052;ENST00000380570;ENST00000380566;ENST00000276935	T;T;T;T;T;T	0.66638	-0.09;-0.05;-0.16;-0.22;-0.11;-0.08	5.4	5.4	0.78164	.	.	.	.	.	T	0.75852	0.3906	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.993	T	0.77978	-0.2384	9	0.66056	D	0.02	.	19.181	0.93623	0.0:0.0:1.0:0.0	.	24;24	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	M	24	ENSP00000369921:R24M;ENSP00000327887:R24M;ENSP00000401157:R24M;ENSP00000369944:R24M;ENSP00000369940:R24M;ENSP00000276935:R24M	ENSP00000276935:R24M	R	+	2	0	ADAMTSL1	18494834	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.179000	0.94861	2.531000	0.85337	0.561000	0.74099	AGG		PASS	0.567	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			50	59	50	59	---	---	---	---
HAUS6	54801	broad.mit.edu	37	9	19089443	19089443	+	Missense_Mutation	SNP	T	T	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr9:19089443T>G	ENST00000380502.3	-	5	1018	c.551A>C	c.(550-552)gAt>gCt	p.D184A	HAUS6_ENST00000380496.1_Missense_Mutation_p.D48A|Y_RNA_ENST00000364248.1_RNA	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	184					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.D184A(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGTAACACAATCTTGTCTTTG	0.333																																						uc003znk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(550-552)GAT>GCT		HAUS augmin-like complex, subunit 6							103.0	102.0	103.0					9																	19089443		2203	4300	6503	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19089443T>G	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.551A>C	9.37:g.19089443T>G	ENSP00000369871:p.Asp184Ala					HAUS6_uc003znl.1_Missense_Mutation_p.D48A	p.D184A	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN			5	804	-			184					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.551A>C	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.813390	0.70912	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	T;T	0.23754	1.89;1.89	5.15	5.15	0.70609	.	0.098061	0.64402	D	0.000002	T	0.47820	0.1466	M	0.74258	2.255	0.38660	D	0.952068	D;D	0.69078	0.992;0.997	P;P	0.62740	0.906;0.884	T	0.56463	-0.7975	10	0.72032	D	0.01	-8.3733	12.9626	0.58466	0.0:0.0:0.0:1.0	.	48;184	Q5VY60;Q7Z4H7	.;HAUS6_HUMAN	A	184;48	ENSP00000369871:D184A;ENSP00000369865:D48A	ENSP00000369865:D48A	D	-	2	0	HAUS6	19079443	1.000000	0.71417	0.998000	0.56505	0.901000	0.52897	4.913000	0.63341	1.950000	0.56595	0.455000	0.32223	GAT		PASS	0.333	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		10	36	10	36	---	---	---	---
MOB3B	79817	broad.mit.edu	37	9	27455301	27455301	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr9:27455301G>A	ENST00000262244.5	-	2	672	c.248C>T	c.(247-249)aCc>aTc	p.T83I		NM_024761.4	NP_079037.3	Q86TA1	MOB3B_HUMAN	MOB kinase activator 3B	83							metal ion binding (GO:0046872)	p.T83I(1)									GGTCCGCTCGGTGCAGAACTC	0.547																																						uc003zqn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pleura(1)	2						c.(247-249)ACC>ATC		MOB1, Mps One Binder kinase activator-like 2B							146.0	126.0	133.0					9																	27455301		2203	4300	6503	SO:0001583	missense	79817						metal ion binding|protein binding	g.chr9:27455301G>A	AK023266	CCDS6520.1	9p21.1	2012-07-05	2011-09-28	2011-09-28	ENSG00000120162	ENSG00000120162		"""MOB kinase activators"""	23825	protein-coding gene	gene with protein product	"""monopolar spindle 1 binding, MOB1, domain containing"""		"""MOB1, Mps One Binder kinase activator-like 2B (yeast)"", ""chromosome 9 open reading frame 35"""	MOBKL2B, C9orf35		12477932	Standard	NM_024761		Approved	MOB1D, FLJ13204	uc003zqn.3	Q86TA1	OTTHUMG00000019717	ENST00000262244.5:c.248C>T	9.37:g.27455301G>A	ENSP00000262244:p.Thr83Ile						p.T83I	NM_024761	NP_079037	Q86TA1	MOL2B_HUMAN		Lung(218;6.54e-05)|LUSC - Lung squamous cell carcinoma(38;0.000397)	2	744	-		all_neural(11;9.12e-11)	83					Q8NEB4|Q9H8V4	Missense_Mutation	SNP	ENST00000262244.5	37	c.248C>T	CCDS6520.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086263	0.94100	.	.	ENSG00000120162	ENST00000262244	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.89005	0.6592	H	0.95328	3.655	0.80722	D	1	P	0.40794	0.729	P	0.58391	0.838	D	0.90355	0.4369	9	0.87932	D	0	-16.6746	19.1586	0.93522	0.0:0.0:1.0:0.0	.	83	Q86TA1	MOB3B_HUMAN	I	83	.	ENSP00000262244:T83I	T	-	2	0	MOBKL2B	27445301	1.000000	0.71417	0.975000	0.42487	0.973000	0.67179	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	ACC		PASS	0.547	MOB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051974.2	NM_024761		14	55	14	55	---	---	---	---
UNC13B	10497	broad.mit.edu	37	9	35398283	35398283	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr9:35398283G>A	ENST00000378495.3	+	30	3805	c.3583G>A	c.(3583-3585)Gag>Aag	p.E1195K	UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000396787.1_Missense_Mutation_p.E1207K|UNC13B_ENST00000378496.4_Missense_Mutation_p.E1195K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1195					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.E1195K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGGAGGCAAGGAGGTAGGTCT	0.507																																						uc003zwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|skin(1)	5						c.(3583-3585)GAG>AAG		UNC13 (C. elegans)-like							125.0	103.0	110.0					9																	35398283		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35398283G>A	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3583G>A	9.37:g.35398283G>A	ENSP00000367756:p.Glu1195Lys					UNC13B_uc003zwr.2_Missense_Mutation_p.E1195K	p.E1195K	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		30	3875	+	all_epithelial(49;0.212)		1195			Potential.		Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.3583G>A	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269647	0.59540	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.14144	2.53;2.53;2.53	5.73	5.73	0.89815	.	0.144262	0.64402	D	0.000005	T	0.13286	0.0322	L	0.29908	0.895	0.48511	D	0.999668	B;B	0.18610	0.029;0.012	B;B	0.20184	0.028;0.01	T	0.12319	-1.0552	10	0.22706	T	0.39	-26.6592	19.5123	0.95146	0.0:0.0:1.0:0.0	.	1195;1195	F8W8M9;O14795	.;UN13B_HUMAN	K	1207;1195;1195;782	ENSP00000380006:E1207K;ENSP00000367756:E1195K;ENSP00000367757:E1195K	ENSP00000367756:E1195K	E	+	1	0	UNC13B	35388283	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.526000	0.67116	2.706000	0.92434	0.563000	0.77884	GAG		PASS	0.507	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		16	18	16	18	---	---	---	---
HRCT1	646962	broad.mit.edu	37	9	35906398	35906398	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr9:35906398C>A	ENST00000354323.2	+	1	210	c.114C>A	c.(112-114)gaC>gaA	p.D38E		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	38						integral component of membrane (GO:0016021)		p.D38E(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						GACGGCAGGACTGTGACGTGG	0.672																																						uc003zyr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(112-114)GAC>GAA		histidine rich carboxyl terminus 1							37.0	42.0	40.0					9																	35906398		2203	4300	6503	SO:0001583	missense	646962					integral to membrane		g.chr9:35906398C>A		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.114C>A	9.37:g.35906398C>A	ENSP00000346283:p.Asp38Glu						p.D38E	NM_001039792	NP_001034881	Q6UXD1	HRCT1_HUMAN			1	210	+			38					B7ZBJ1	Missense_Mutation	SNP	ENST00000354323.2	37	c.114C>A	CCDS35012.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082351	0.36758	.	.	ENSG00000196196	ENST00000354323	.	.	.	4.15	-3.93	0.04143	.	0.594875	0.13962	N	0.350754	T	0.11793	0.0287	N	0.11560	0.145	0.09310	N	1	B	0.26602	0.154	B	0.23716	0.048	T	0.28902	-1.0029	9	0.10636	T	0.68	-10.8641	2.1886	0.03893	0.1227:0.2143:0.3999:0.2632	.	38	Q6UXD1	HRCT1_HUMAN	E	38	.	ENSP00000346283:D38E	D	+	3	2	HRCT1	35896398	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-2.689000	0.00832	-0.852000	0.04141	-0.251000	0.11542	GAC		PASS	0.672	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		4	45	4	45	---	---	---	---
APBA1	320	broad.mit.edu	37	9	72131330	72131330	+	Missense_Mutation	SNP	T	T	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr9:72131330T>A	ENST00000265381.4	-	2	1019	c.797A>T	c.(796-798)cAg>cTg	p.Q266L		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	266	Munc-18-1 binding.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.Q266L(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTCCTCCTCCTGCTCGTAGCT	0.662																																						uc004ahh.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(796-798)CAG>CTG		amyloid beta A4 precursor protein-binding,							46.0	33.0	37.0					9																	72131330		2201	4300	6501	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131330T>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.797A>T	9.37:g.72131330T>A	ENSP00000265381:p.Gln266Leu						p.Q266L	NM_001163	NP_001154	Q02410	APBA1_HUMAN			2	1073	-			266			Munc-18-1 binding.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.797A>T	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	T	19.22	3.786032	0.70337	.	.	ENSG00000107282	ENST00000265381	T	0.07021	3.23	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.08980	0.0222	L	0.29908	0.895	0.58432	D	0.999998	B	0.10296	0.003	B	0.11329	0.006	T	0.09707	-1.0662	10	0.66056	D	0.02	.	15.9161	0.79521	0.0:0.0:0.0:1.0	.	266	Q02410	APBA1_HUMAN	L	266	ENSP00000265381:Q266L	ENSP00000265381:Q266L	Q	-	2	0	APBA1	71321150	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.878000	0.69682	2.170000	0.68504	0.459000	0.35465	CAG		PASS	0.662	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		10	14	10	14	---	---	---	---
GDA	9615	broad.mit.edu	37	9	74860170	74860170	+	Silent	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr9:74860170G>T	ENST00000358399.3	+	12	1335	c.1242G>T	c.(1240-1242)ggG>ggT	p.G414G	GDA_ENST00000545168.1_Silent_p.G340G|GDA_ENST00000238018.4_Silent_p.G414G|GDA_ENST00000376986.1_Silent_p.G336G|GDA_ENST00000376989.3_Silent_p.G353G	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	414					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.G414G(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TGTTTTATGGGGACTTTTTTG	0.388																																						uc004aiq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1240-1242)GGG>GGT		guanine deaminase							152.0	150.0	150.0					9																	74860170		2203	4300	6503	SO:0001819	synonymous_variant	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74860170G>T	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.1242G>T	9.37:g.74860170G>T						GDA_uc011lse.1_Silent_p.G340G|GDA_uc011lsf.1_Silent_p.G340G|GDA_uc004air.2_Silent_p.G414G|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Silent_p.G336G	p.G414G	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	12	1425	+		Myeloproliferative disorder(762;0.0122)	414					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Silent	SNP	ENST00000358399.3	37	c.1242G>T	CCDS6641.1																																																																																				PASS	0.388	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			52	63	52	63	---	---	---	---
RORB	6096	broad.mit.edu	37	9	77282715	77282715	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr9:77282715G>T	ENST00000396204.2	+	8	1042	c.1042G>T	c.(1042-1044)Gac>Tac	p.D348Y	RORB_ENST00000376896.3_Missense_Mutation_p.D337Y			Q92753	RORB_HUMAN	RAR-related orphan receptor B	348	Ligand-binding. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.D337Y(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	AGGTTCTGATGACCTAGTGAA	0.378																																						uc004aji.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(1042-1044)GAC>TAC		RAR-related orphan receptor B							152.0	136.0	142.0					9																	77282715		2203	4300	6503	SO:0001583	missense	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77282715G>T	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.1042G>T	9.37:g.77282715G>T	ENSP00000379507:p.Asp348Tyr					RORB_uc004ajh.2_Missense_Mutation_p.D337Y	p.D348Y	NM_006914	NP_008845	Q92753	RORB_HUMAN			8	1091	+			348			Ligand-binding (Potential).		Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	37	c.1042G>T		.	.	.	.	.	.	.	.	.	.	G	28.0	4.879326	0.91740	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.97041	-4.22;-4.22	6.17	6.17	0.99709	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.043116	0.85682	D	0.000000	D	0.98833	0.9606	M	0.90705	3.14	0.80722	D	1	D;P	0.89917	1.0;0.94	D;P	0.79108	0.992;0.849	D	0.99038	1.0823	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	348;337	Q92753;Q58EY0	RORB_HUMAN;.	Y	337;348	ENSP00000366093:D337Y;ENSP00000379507:D348Y	ENSP00000366093:D337Y	D	+	1	0	RORB	76472535	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.775000	0.98995	2.941000	0.99782	0.655000	0.94253	GAC		PASS	0.378	RORB-201	KNOWN	basic	protein_coding	protein_coding				52	46	52	46	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77416851	77416851	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr9:77416851C>A	ENST00000360774.1	-	16	2209	c.1972G>T	c.(1972-1974)Gtg>Ttg	p.V658L	RN7SKP47_ENST00000365347.1_RNA|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.V653L|TRPM6_ENST00000376864.4_Missense_Mutation_p.V658L|TRPM6_ENST00000451710.3_Missense_Mutation_p.V658L|TRPM6_ENST00000361255.3_Missense_Mutation_p.V653L	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	658					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.V658L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCATCATCCACCATGTGACTC	0.443																																						uc004ajl.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(1972-1974)GTG>TTG		transient receptor potential cation channel,							143.0	126.0	132.0					9																	77416851		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77416851C>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1972G>T	9.37:g.77416851C>A	ENSP00000354006:p.Val658Leu					TRPM6_uc004ajk.1_Missense_Mutation_p.V653L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.V36L	p.V658L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			16	2210	-			658			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.1972G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335194	0.41398	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0	5.42	1.29	0.21616	.	0.308637	0.35585	N	0.003108	T	0.53658	0.1810	L	0.58583	1.82	0.37736	D	0.925438	B;B;B	0.17667	0.023;0.006;0.011	B;B;B	0.26770	0.073;0.013;0.044	T	0.54879	-0.8227	10	0.59425	D	0.04	.	5.8484	0.18679	0.1131:0.6446:0.11:0.1323	.	321;658;653	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	L	658;658;653;653;658;321;321	ENSP00000354006:V658L;ENSP00000407341:V658L;ENSP00000396672:V653L;ENSP00000354962:V653L;ENSP00000366060:V658L	ENSP00000309693:V321L	V	-	1	0	TRPM6	76606671	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.092000	0.41700	0.673000	0.31224	0.585000	0.79938	GTG		PASS	0.443	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		31	48	31	48	---	---	---	---
TLE1	7088	broad.mit.edu	37	9	84231614	84231614	+	Splice_Site	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr9:84231614C>A	ENST00000376499.3	-	10	1776	c.712G>T	c.(712-714)Gac>Tac	p.D238Y	TLE1_ENST00000464999.1_5'UTR|TLE1_ENST00000376472.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	238	CCN domain.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)	p.D238Y(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CCATCACTGTCCTGGAAAAAA	0.353																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	uc004aly.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(712-714)GAC>TAC		transducin-like enhancer protein 1							119.0	109.0	113.0					9																	84231614		2203	4300	6503	SO:0001630	splice_region_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84231614C>A		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.712-1G>T	9.37:g.84231614C>A						TLE1_uc004alz.2_Missense_Mutation_p.D248Y|TLE1_uc011lsr.1_Missense_Mutation_p.D238Y|TLE1_uc004ama.1_Missense_Mutation_p.D238Y|TLE1_uc011lss.1_Missense_Mutation_p.D164Y	p.D238Y	NM_005077	NP_005068	Q04724	TLE1_HUMAN			10	1153	-			238			CCN domain.		A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	c.712G>T	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873000	0.91664	.	.	ENSG00000196781	ENST00000376499	T	0.49432	0.78	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.73426	0.3585	M	0.83953	2.67	0.80722	D	1	D;P;D;D	0.71674	0.99;0.834;0.987;0.998	D;P;D;D	0.72982	0.979;0.786;0.927;0.954	T	0.75584	-0.3267	10	0.87932	D	0	-28.5166	20.422	0.99049	0.0:1.0:0.0:0.0	.	164;238;265;238	B4E345;B4DEF9;Q59EF7;Q04724	.;.;.;TLE1_HUMAN	Y	238	ENSP00000365682:D238Y	ENSP00000365682:D238Y	D	-	1	0	TLE1	83421434	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.625000	0.83145	2.832000	0.97577	0.655000	0.94253	GAC		PASS	0.353	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077	Missense_Mutation	4	82	4	82	---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104432353	104432353	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr9:104432353G>A	ENST00000361820.3	-	3	2941	c.2341C>T	c.(2341-2343)Cat>Tat	p.H781Y		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	781					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.H781Y(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TTGGGGTCATGTATTCCAGAA	0.398																																						uc004bbp.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(2341-2343)CAT>TAT		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						78.0	78.0	78.0					9																	104432353		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104432353G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2341C>T	9.37:g.104432353G>A	ENSP00000355155:p.His781Tyr					GRIN3A_uc004bbq.1_Missense_Mutation_p.H781Y	p.H781Y	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			3	2942	-		Acute lymphoblastic leukemia(62;0.0568)	781			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.2341C>T	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719286	0.68844	.	.	ENSG00000198785	ENST00000361820	T	0.53640	0.61	5.21	5.21	0.72293	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.69088	0.3072	M	0.78637	2.42	0.80722	D	1	D	0.59767	0.986	D	0.63283	0.913	T	0.72447	-0.4291	10	0.62326	D	0.03	.	19.124	0.93375	0.0:0.0:1.0:0.0	.	781	Q8TCU5	NMD3A_HUMAN	Y	781	ENSP00000355155:H781Y	ENSP00000355155:H781Y	H	-	1	0	GRIN3A	103472174	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.781000	0.99029	2.601000	0.87937	0.585000	0.79938	CAT		PASS	0.398	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			13	43	13	43	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976772	119976772	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr9:119976772C>T	ENST00000313400.4	-	3	980	c.880G>A	c.(880-882)Gac>Aac	p.D294N	ASTN2_ENST00000361209.2_Missense_Mutation_p.D294N|ASTN2_ENST00000373996.3_Missense_Mutation_p.D294N|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	294					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.D294N(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCCTCACAGTCATAGTCATCC	0.622																																						uc004bjs.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(880-882)GAC>AAC		astrotactin 2 isoform c							79.0	76.0	77.0					9																	119976772		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119976772C>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.880G>A	9.37:g.119976772C>T	ENSP00000314038:p.Asp294Asn					ASTN2_uc004bjr.1_Missense_Mutation_p.D294N|ASTN2_uc004bjt.1_Missense_Mutation_p.D294N	p.D294N	NM_198187	NP_937830	O75129	ASTN2_HUMAN			3	981	-			294			Cytoplasmic (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.880G>A		.	.	.	.	.	.	.	.	.	.	C	28.4	4.915629	0.92178	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.13307	2.68;2.68;2.6;2.61	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000001	T	0.17365	0.0417	N	0.14661	0.345	0.58432	D	0.999995	D;P;D	0.60575	0.988;0.952;0.971	P;P;P	0.56216	0.794;0.612;0.783	T	0.11817	-1.0572	9	.	.	.	-26.3295	18.2572	0.90023	0.0:1.0:0.0:0.0	.	294;294;294	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	N	294;294;21;294	ENSP00000314038:D294N;ENSP00000363108:D294N;ENSP00000363098:D21N;ENSP00000354504:D294N	.	D	-	1	0	ASTN2	119016593	1.000000	0.71417	0.990000	0.47175	0.979000	0.70002	7.452000	0.80683	2.388000	0.81334	0.655000	0.94253	GAC		PASS	0.622	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		28	35	28	35	---	---	---	---
SLC25A25	114789	broad.mit.edu	37	9	130860954	130860954	+	Missense_Mutation	SNP	A	A	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr9:130860954A>C	ENST00000373064.5	+	1	372	c.109A>C	c.(109-111)Agt>Cgt	p.S37R	SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000373069.5_Intron|SLC25A25_ENST00000373066.5_Intron|SLC25A25_ENST00000432073.2_Intron|SLC25A25_ENST00000433501.1_5'UTR	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	37					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.S37R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						TTTCAAGCTCAGTGTCTTCAT	0.582																																						uc004bte.2																			1	Substitution - Missense(1)		lung(1)		0						c.(109-111)AGT>CGT		solute carrier family 25, member 25 isoform a							128.0	119.0	122.0					9																	130860954		2203	4300	6503	SO:0001583	missense	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130860954A>C	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.109A>C	9.37:g.130860954A>C	ENSP00000362155:p.Ser37Arg					SLC25A25_uc004btb.2_Intron|SLC25A25_uc004btc.2_Intron|SLC25A25_uc004btd.2_Intron|SLC25A25_uc004btf.2_5'UTR	p.S37R	NM_052901	NP_443133	Q6KCM7	SCMC2_HUMAN			1	138	+			37			Mitochondrial intermembrane (Potential).		Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	ENST00000373064.5	37	c.109A>C	CCDS6890.1	.	.	.	.	.	.	.	.	.	.	A	19.21	3.784231	0.70222	.	.	ENSG00000148339	ENST00000373064	T	0.54866	0.55	5.37	5.37	0.77165	EF-hand-like domain (1);	.	.	.	.	T	0.36717	0.0977	N	0.19112	0.55	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.18967	-1.0320	9	0.13108	T	0.6	.	14.8439	0.70246	1.0:0.0:0.0:0.0	.	37	Q6KCM7	SCMC2_HUMAN	R	37	ENSP00000362155:S37R	ENSP00000362155:S37R	S	+	1	0	SLC25A25	129900775	1.000000	0.71417	0.997000	0.53966	0.846000	0.48090	7.312000	0.78968	2.152000	0.67230	0.383000	0.25322	AGT		PASS	0.582	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	NM_052901		73	67	73	67	---	---	---	---
CIZ1	25792	broad.mit.edu	37	9	130947849	130947849	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr9:130947849A>G	ENST00000393608.1	-	5	767	c.565T>C	c.(565-567)Tcc>Ccc	p.S189P	CIZ1_ENST00000357558.5_Missense_Mutation_p.S189P|CIZ1_ENST00000538431.1_Missense_Mutation_p.S189P|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372938.5_Missense_Mutation_p.S189P|CIZ1_ENST00000277465.4_Missense_Mutation_p.S189P|CIZ1_ENST00000372954.1_Missense_Mutation_p.S165P|CIZ1_ENST00000325721.8_Missense_Mutation_p.S165P|CIZ1_ENST00000372948.3_Missense_Mutation_p.S189P|CIZ1_ENST00000541172.1_Missense_Mutation_p.S88P	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	189					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S189P(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						GTGGTAGAGGAGGAGGTCCGG	0.637																																						uc004btt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(565-567)TCC>CCC		CDKN1A interacting zinc finger protein 1 isoform							59.0	61.0	60.0					9																	130947849		2203	4300	6503	SO:0001583	missense	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130947849A>G	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.565T>C	9.37:g.130947849A>G	ENSP00000377232:p.Ser189Pro					CIZ1_uc004btr.2_Missense_Mutation_p.S189P|CIZ1_uc004bts.2_Missense_Mutation_p.S165P|CIZ1_uc011maq.1_Missense_Mutation_p.S189P|CIZ1_uc004btu.2_Missense_Mutation_p.S165P|CIZ1_uc011mar.1_Missense_Mutation_p.S88P|CIZ1_uc011mas.1_Missense_Mutation_p.S219P|CIZ1_uc004btw.2_Missense_Mutation_p.S189P|CIZ1_uc004btv.2_Missense_Mutation_p.S189P|CIZ1_uc004btx.2_Missense_Mutation_p.S165P	p.S189P	NM_001131016	NP_001124488	Q9ULV3	CIZ1_HUMAN			5	728	-			189					A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	ENST00000393608.1	37	c.565T>C	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.992543	0.54041	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372941;ENST00000372948;ENST00000372938;ENST00000415526;ENST00000324544	T;T;T;T;T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	4.44	2.04	0.26737	.	0.432619	0.20017	N	0.100998	T	0.64148	0.2572	L	0.29908	0.895	0.09310	N	1	P;P;B;P;P;D;B;P	0.57571	0.818;0.952;0.046;0.938;0.895;0.98;0.004;0.943	B;P;B;P;P;P;B;P	0.50896	0.255;0.451;0.057;0.653;0.653;0.642;0.018;0.451	T	0.53387	-0.8446	10	0.30078	T	0.28	-9.8688	4.5656	0.12184	0.702:0.1967:0.1013:0.0	.	189;189;189;189;165;189;165;189	B7Z3U7;B4E0A3;F5H2X7;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;.;CIZ1_HUMAN;.;.	P	165;189;189;189;165;156;88;189;165;189;189;116;189	ENSP00000362045:S165P;ENSP00000377232:S189P;ENSP00000439244:S189P;ENSP00000350169:S189P;ENSP00000320374:S165P;ENSP00000445057:S88P;ENSP00000277465:S189P;ENSP00000362039:S189P;ENSP00000362029:S189P;ENSP00000398011:S116P;ENSP00000321780:S189P	ENSP00000277465:S189P	S	-	1	0	CIZ1	129987670	0.002000	0.14202	0.021000	0.16686	0.823000	0.46562	0.091000	0.15046	0.442000	0.26555	0.533000	0.62120	TCC		PASS	0.637	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		3	62	3	62	---	---	---	---
TTF1	7270	broad.mit.edu	37	9	135277211	135277211	+	Missense_Mutation	SNP	T	T	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr9:135277211T>G	ENST00000334270.2	-	2	1037	c.998A>C	c.(997-999)aAg>aCg	p.K333T		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	333	Poly-Lys.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K333T(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CTTTTTTTTCTTAGACTTGTT	0.512																																						uc004cbl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(997-999)AAG>ACG		transcription termination factor, RNA polymerase							89.0	93.0	92.0					9																	135277211		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277211T>G	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.998A>C	9.37:g.135277211T>G	ENSP00000333920:p.Lys333Thr					TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron	p.K333T	NM_007344	NP_031370	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	1050	-		Myeloproliferative disorder(178;0.204)	333			Poly-Lys.		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.998A>C	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.679761	0.29783	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.15256	2.44	2.75	-1.29	0.09288	.	0.241164	0.29410	N	0.012236	T	0.10165	0.0249	L	0.52573	1.65	0.24101	N	0.995874	P	0.37594	0.601	B	0.24848	0.056	T	0.15292	-1.0442	10	0.51188	T	0.08	.	5.6897	0.17823	0.0:0.4496:0.0:0.5504	.	333	Q15361	TTF1_HUMAN	T	333	ENSP00000333920:K333T	ENSP00000245588:K333T	K	-	2	0	TTF1	134267032	0.999000	0.42202	0.113000	0.21522	0.167000	0.22549	0.411000	0.21115	-0.248000	0.09583	0.383000	0.25322	AAG		PASS	0.512	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		21	93	21	93	---	---	---	---
C9orf9	11092	broad.mit.edu	37	9	135763718	135763718	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr9:135763718C>G	ENST00000372136.3	+	4	836	c.389C>G	c.(388-390)gCc>gGc	p.A130G	C9orf9_ENST00000356311.5_Missense_Mutation_p.A130G|C9orf9_ENST00000350499.6_Missense_Mutation_p.A130G			Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9	130						cytoplasmic microtubule (GO:0005881)		p.A130G(1)|p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		TGTGACGAGGCCCGGAACCAC	0.612																																						uc004cbx.1																			2	Substitution - Missense(1)|Unknown(1)	p.?(1)	lung(1)|bone(1)		0						c.(388-390)GCC>GGC		Rsb-66 protein							93.0	76.0	81.0					9																	135763718		2203	4300	6503	SO:0001583	missense	11092							g.chr9:135763718C>G		CCDS6955.1	9q34.13	2012-03-06			ENSG00000165698	ENSG00000165698			1367	protein-coding gene	gene with protein product							Standard	NM_018956		Approved		uc004cby.1	Q96E40	OTTHUMG00000020847	ENST00000372136.3:c.389C>G	9.37:g.135763718C>G	ENSP00000361209:p.Ala130Gly					C9orf9_uc004cby.1_Missense_Mutation_p.A130G|C9orf9_uc004cbz.1_Missense_Mutation_p.A130G	p.A130G	NM_018956	NP_061829	Q96E40	CI009_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)	4	500	+			130					Q9UGQ0	Missense_Mutation	SNP	ENST00000372136.3	37	c.389C>G		.	.	.	.	.	.	.	.	.	.	C	26.8	4.768409	0.90020	.	.	ENSG00000165698	ENST00000372136;ENST00000356311;ENST00000350499	T;T;T	0.60672	0.17;0.17;0.17	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.76557	0.4004	M	0.73962	2.25	0.58432	D	0.999998	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	T	0.79642	-0.1718	10	0.87932	D	0	-29.9742	17.3573	0.87340	0.0:1.0:0.0:0.0	.	130;130	Q96E40-2;Q96E40	.;CI009_HUMAN	G	130	ENSP00000361209:A130G;ENSP00000348659:A130G;ENSP00000298546:A130G	ENSP00000298546:A130G	A	+	2	0	C9orf9	134753539	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.940000	0.70187	2.425000	0.82216	0.561000	0.74099	GCC		PASS	0.612	C9orf9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000054806.1	NM_018956		12	30	12	30	---	---	---	---
SNAPC4	6621	broad.mit.edu	37	9	139276418	139276418	+	Missense_Mutation	SNP	C	C	G	rs201265450		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr9:139276418C>G	ENST00000298532.2	-	17	2543	c.2175G>C	c.(2173-2175)caG>caC	p.Q725H		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.Q725H(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GCTGCCCACTCTGGGTGGCTC	0.677																																						uc004chh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2173-2175)CAG>CAC		small nuclear RNA activating complex,		C	HIS/GLN	0,4394		0,0,2197	21.0	22.0	21.0		2175	2.2	0.0	9		21	2,8582		0,2,4290	yes	missense	SNAPC4	NM_003086.2	24	0,2,6487	GG,GC,CC		0.0233,0.0,0.0154	possibly-damaging	725/1470	139276418	2,12976	2197	4292	6489	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139276418C>G	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.2175G>C	9.37:g.139276418C>G	ENSP00000298532:p.Gln725His						p.Q725H	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	17	2184	-		Myeloproliferative disorder(178;0.0511)	725						Missense_Mutation	SNP	ENST00000298532.2	37	c.2175G>C	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849302	0.32699	0.0	2.33E-4	ENSG00000165684	ENST00000298532	T	0.25912	1.77	4.08	2.21	0.28008	.	8.448780	0.00559	N	0.000277	T	0.28797	0.0714	L	0.43152	1.355	0.09310	N	1	P	0.51653	0.947	P	0.44732	0.459	T	0.16837	-1.0389	10	0.49607	T	0.09	-6.1184	7.2401	0.26092	0.0:0.789:0.0:0.211	.	725	Q5SXM2	SNPC4_HUMAN	H	725	ENSP00000298532:Q725H	ENSP00000298532:Q725H	Q	-	3	2	SNAPC4	138396239	0.000000	0.05858	0.003000	0.11579	0.149000	0.21700	-0.235000	0.09016	0.198000	0.20407	0.462000	0.41574	CAG		PASS	0.677	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		8	15	8	15	---	---	---	---
TAF3	83860	broad.mit.edu	37	10	8055795	8055795	+	Nonsense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr10:8055795C>G	ENST00000344293.5	+	6	2876	c.2670C>G	c.(2668-2670)taC>taG	p.Y890*		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	890					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)	p.Y890*(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						ATGACTGGTACCACTGGTGAG	0.577																																						uc010qbd.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(2668-2670)TAC>TAG		RNA polymerase II transcription factor TAFII140							125.0	132.0	130.0					10																	8055795		2074	4203	6277	SO:0001587	stop_gained	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8055795C>G	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.2670C>G	10.37:g.8055795C>G	ENSP00000340271:p.Tyr890*						p.Y890*	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			6	2670	+			890			PHD-type.		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Nonsense_Mutation	SNP	ENST00000344293.5	37	c.2670C>G	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	C	41	9.036462	0.99044	.	.	ENSG00000165632	ENST00000344293	.	.	.	6.17	5.27	0.74061	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.6407	10.1759	0.42937	0.0:0.8132:0.0:0.1868	.	.	.	.	X	890	.	ENSP00000340271:Y890X	Y	+	3	2	TAF3	8095801	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.961000	0.29267	1.627000	0.50400	0.655000	0.94253	TAC		PASS	0.577	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		20	153	20	153	---	---	---	---
FAM188A	80013	broad.mit.edu	37	10	15885221	15885221	+	Silent	SNP	C	C	A	rs144611478	byFrequency	TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr10:15885221C>A	ENST00000277632.3	-	3	445	c.225G>T	c.(223-225)cgG>cgT	p.R75R	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	75					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R75R(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						CTGAACAATCCCGCCAAGAAG	0.348																																					Pancreas(159;946 1953 2111 4475 22008)	uc001iod.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(223-225)CGG>CGT		chromosome 10 open reading frame 97							80.0	89.0	86.0					10																	15885221		2202	4299	6501	SO:0001819	synonymous_variant	80013				apoptosis	nucleus	calcium ion binding	g.chr10:15885221C>A	AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.225G>T	10.37:g.15885221C>A						FAM188A_uc001ioe.1_5'UTR|FAM188A_uc001iof.1_Silent_p.R75R	p.R75R	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN			3	446	-			75					Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Silent	SNP	ENST00000277632.3	37	c.225G>T	CCDS7110.1																																																																																				PASS	0.348	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948		61	156	61	156	---	---	---	---
SLC39A12	221074	broad.mit.edu	37	10	18270262	18270262	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr10:18270262C>G	ENST00000377369.2	+	6	1219	c.946C>G	c.(946-948)Ctg>Gtg	p.L316V	SLC39A12_ENST00000377371.3_Missense_Mutation_p.L316V|SLC39A12_ENST00000539911.1_Missense_Mutation_p.L182V|SLC39A12_ENST00000377374.4_Missense_Mutation_p.L316V	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	316				L -> R (in Ref. 3; AAH47635). {ECO:0000305}.	regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.L316V(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TGCTAGGCAGCTGGTGGAGAT	0.453																																						uc001ipo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(946-948)CTG>GTG		solute carrier family 39 (zinc transporter),							90.0	88.0	89.0					10																	18270262		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18270262C>G		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.946C>G	10.37:g.18270262C>G	ENSP00000366586:p.Leu316Val					SLC39A12_uc001ipn.2_Missense_Mutation_p.L316V|SLC39A12_uc001ipp.2_Missense_Mutation_p.L316V|SLC39A12_uc010qck.1_Missense_Mutation_p.L182V	p.L316V	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			6	1219	+			316	L -> R (in Ref. 3; AAH47635).		Cytoplasmic (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.946C>G	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505136	0.64410	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.76186	-0.82;-1.0;-0.8;-0.88	5.63	3.66	0.41972	.	0.141960	0.49305	D	0.000158	D	0.84547	0.5496	M	0.81239	2.535	0.51012	D	0.999909	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.68353	0.957;0.931;0.957	D	0.84536	0.0636	10	0.56958	D	0.05	-8.9229	11.7026	0.51579	0.0:0.8458:0.0:0.1542	.	316;316;316	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	V	316;316;316;182;236	ENSP00000366586:L316V;ENSP00000366591:L316V;ENSP00000366588:L316V;ENSP00000440445:L182V	ENSP00000366586:L316V	L	+	1	2	SLC39A12	18310268	0.941000	0.31946	1.000000	0.80357	0.990000	0.78478	0.454000	0.21827	0.634000	0.30469	0.655000	0.94253	CTG		PASS	0.453	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		26	75	26	75	---	---	---	---
PARD3	56288	broad.mit.edu	37	10	34573094	34573094	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr10:34573094C>T	ENST00000374789.3	-	21	3479	c.3154G>A	c.(3154-3156)Gag>Aag	p.E1052K	PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000545693.1_Missense_Mutation_p.E1036K|PARD3_ENST00000545260.1_Missense_Mutation_p.E962K|PARD3_ENST00000374790.3_Missense_Mutation_p.E992K|PARD3_ENST00000374788.3_Missense_Mutation_p.E1049K|PARD3_ENST00000350537.4_Missense_Mutation_p.E1006K|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000346874.4_Intron	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1052					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.E1052K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CGTATCCTCTCCTCTTCTGAT	0.343																																						uc010qej.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3154-3156)GAG>AAG		partitioning-defective protein 3 homolog							224.0	221.0	222.0					10																	34573094		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34573094C>T	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3154G>A	10.37:g.34573094C>T	ENSP00000363921:p.Glu1052Lys					PARD3_uc010qek.1_Missense_Mutation_p.E1049K|PARD3_uc010qel.1_Intron|PARD3_uc010qem.1_Missense_Mutation_p.E1036K|PARD3_uc010qen.1_Missense_Mutation_p.E1006K|PARD3_uc010qeo.1_Intron|PARD3_uc010qep.1_Missense_Mutation_p.E962K|PARD3_uc010qeq.1_Intron	p.E1052K	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			21	3154	-		Breast(68;0.0707)	1052			Potential.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.3154G>A	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351812	0.82132	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000350537;ENST00000374790	T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1	5.95	5.95	0.96441	.	0.098289	0.64402	D	0.000001	T	0.49609	0.1567	M	0.74881	2.28	0.80722	D	1	P;P;P;P;P	0.39903	0.592;0.694;0.694;0.694;0.568	B;B;B;B;B	0.37601	0.254;0.204;0.204;0.204;0.101	T	0.55611	-0.8114	10	0.72032	D	0.01	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	962;1006;1036;1049;1052	Q8TEW0-3;Q8TEW0-6;F5H5T0;Q8TEW0-2;Q8TEW0	.;.;.;.;PARD3_HUMAN	K	1036;962;1052;1049;1006;992	ENSP00000443147:E1036K;ENSP00000440857:E962K;ENSP00000363921:E1052K;ENSP00000363920:E1049K;ENSP00000311986:E1006K;ENSP00000363922:E992K	ENSP00000311986:E1006K	E	-	1	0	PARD3	34613100	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.611000	0.67674	2.824000	0.97209	0.655000	0.94253	GAG		PASS	0.343	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		25	241	25	241	---	---	---	---
FXYD4	53828	broad.mit.edu	37	10	43869928	43869928	+	Silent	SNP	C	C	A	rs371576645		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr10:43869928C>A	ENST00000476166.1	+	4	382	c.48C>A	c.(46-48)gcC>gcA	p.A16A	FXYD4_ENST00000480834.1_3'UTR	NM_173160.2	NP_775183.1	P59646	FXYD4_HUMAN	FXYD domain containing ion transport regulator 4	16					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)	p.A16A(1)		NS(1)|large_intestine(1)|lung(3)	5						GCCTGACTGCCTTGGAAGCCA	0.577																																					GBM(173;880 2047 13035 42390 49655)	uc001jaq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(46-48)GCC>GCA		FXYD domain containing ion transport regulator 4							139.0	135.0	136.0					10																	43869928		2203	4300	6503	SO:0001819	synonymous_variant	53828					integral to membrane		g.chr10:43869928C>A		CCDS7203.1	10q11.21	2008-02-01	2002-01-14		ENSG00000150201	ENSG00000150201			4028	protein-coding gene	gene with protein product			"""FXYD domain-containing ion transport regulator 4"""			10950925, 12763854	Standard	NM_001184963		Approved	CHIF	uc001jaq.1	P59646	OTTHUMG00000018027	ENST00000476166.1:c.48C>A	10.37:g.43869928C>A							p.A16A	NM_173160	NP_775183	P59646	FXYD4_HUMAN			4	380	+			16					Q6UWZ1|Q7Z4M5	Silent	SNP	ENST00000476166.1	37	c.48C>A	CCDS7203.1																																																																																				PASS	0.577	FXYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047698.2	NM_173160		58	125	58	125	---	---	---	---
CHAT	1103	broad.mit.edu	37	10	50827942	50827942	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr10:50827942C>A	ENST00000337653.2	+	3	712	c.559C>A	c.(559-561)Cag>Aag	p.Q187K	CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000455728.2_Missense_Mutation_p.Q69K|CHAT_ENST00000395559.2_Missense_Mutation_p.Q69K|CHAT_ENST00000351556.3_Missense_Mutation_p.Q69K|CHAT_ENST00000339797.1_Missense_Mutation_p.Q69K|CHAT_ENST00000395562.2_Missense_Mutation_p.Q105K	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	187					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.Q187K(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CCTGGAGCGGCAGGAGAAGAC	0.622																																						uc001jhz.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)	3						c.(559-561)CAG>AAG		choline acetyltransferase isoform 2	Choline(DB00122)						22.0	23.0	22.0					10																	50827942		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50827942C>A	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.559C>A	10.37:g.50827942C>A	ENSP00000337103:p.Gln187Lys					CHAT_uc001jhv.1_Missense_Mutation_p.Q69K|CHAT_uc001jhx.1_Missense_Mutation_p.Q69K|CHAT_uc001jhy.1_Missense_Mutation_p.Q69K|CHAT_uc001jia.2_Missense_Mutation_p.Q69K|CHAT_uc010qgs.1_Missense_Mutation_p.Q69K	p.Q187K	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	3	712	+		all_neural(218;0.107)	187					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.559C>A	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.994061	0.35226	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.24	2.08	0.27032	.	0.230515	0.42682	D	0.000673	T	0.64724	0.2624	N	0.20845	0.615	0.27549	N	0.950563	B;B	0.24651	0.064;0.108	B;B	0.31390	0.068;0.129	T	0.52518	-0.8565	10	0.25106	T	0.35	-2.9478	6.6457	0.22934	0.2494:0.597:0.0:0.1537	.	69;187	F8W8I2;P28329	.;CLAT_HUMAN	K	69;69;69;187;105;69	ENSP00000343486:Q69K;ENSP00000345878:Q69K;ENSP00000378926:Q69K;ENSP00000337103:Q187K;ENSP00000378929:Q105K;ENSP00000390521:Q69K	ENSP00000337103:Q187K	Q	+	1	0	CHAT	50497948	1.000000	0.71417	0.813000	0.32504	0.876000	0.50452	3.737000	0.55060	0.611000	0.30052	0.462000	0.41574	CAG		PASS	0.622	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		12	24	12	24	---	---	---	---
DNA2	1763	broad.mit.edu	37	10	70176536	70176536	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr10:70176536C>G	ENST00000358410.3	-	20	3094	c.3044G>C	c.(3043-3045)gGg>gCg	p.G1015A	DNA2_ENST00000399179.2_Missense_Mutation_p.G777A|DNA2_ENST00000399180.2_Missense_Mutation_p.G1101A	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	1015	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)	p.G1015A(1)|p.G1101A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						GGGCACACACCCCAGAAGAAT	0.353																																						uc001jof.2																			2	Substitution - Missense(2)		lung(2)		0						c.(3301-3303)GGG>GCG		DNA replication helicase 2 homolog							91.0	90.0	90.0					10																	70176536		1833	4093	5926	SO:0001583	missense	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70176536C>G	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.3044G>C	10.37:g.70176536C>G	ENSP00000351185:p.Gly1015Ala					DNA2_uc001jog.1_Missense_Mutation_p.G777A|DNA2_uc001joh.1_RNA	p.G1101A	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN			20	3302	-			1015					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37	c.3302G>C		.	.	.	.	.	.	.	.	.	.	C	27.8	4.866929	0.91511	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.97041	-4.22;-4.22;-4.22	5.08	5.08	0.68730	.	0.055638	0.64402	D	0.000001	D	0.98823	0.9603	M	0.92784	3.345	0.42575	D	0.993197	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99777	1.1026	10	0.54805	T	0.06	.	18.4906	0.90846	0.0:1.0:0.0:0.0	.	777;1015	F8VR31;P51530	.;DNA2L_HUMAN	A	777;1101;777;1015	ENSP00000382133:G1101A;ENSP00000382132:G777A;ENSP00000351185:G1015A	ENSP00000351185:G1015A	G	-	2	0	DNA2	69846542	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.341000	0.79300	2.356000	0.79943	0.655000	0.94253	GGG		PASS	0.353	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			4	84	4	84	---	---	---	---
TET1	80312	broad.mit.edu	37	10	70451518	70451518	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr10:70451518G>A	ENST00000373644.4	+	12	6567	c.6358G>A	c.(6358-6360)Gtg>Atg	p.V2120M		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2120					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.V2120M(2)|p.V2120L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TGTTGTCACCGTGTCCCCTTA	0.443																																						uc001jok.3																			3	Substitution - Missense(3)		lung(2)|haematopoietic_and_lymphoid_tissue(1)	ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(6358-6360)GTG>ATG		CXXC finger 6							131.0	133.0	132.0					10																	70451518		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70451518G>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.6358G>A	10.37:g.70451518G>A	ENSP00000362748:p.Val2120Met						p.V2120M	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			12	6863	+			2120					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.6358G>A	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360426	0.61403	.	.	ENSG00000138336	ENST00000373644	T	0.10288	2.89	5.59	5.59	0.84812	.	0.637289	0.16316	N	0.219772	T	0.31167	0.0788	M	0.65975	2.015	0.30872	N	0.732318	D	0.89917	1.0	D	0.76575	0.988	T	0.13229	-1.0517	10	0.87932	D	0	.	12.882	0.58022	0.0744:0.0:0.9255:0.0	.	2120	Q8NFU7	TET1_HUMAN	M	2120	ENSP00000362748:V2120M	ENSP00000362748:V2120M	V	+	1	0	TET1	70121524	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.163000	0.71880	2.635000	0.89317	0.563000	0.77884	GTG		PASS	0.443	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		5	158	5	158	---	---	---	---
LIPA	3988	broad.mit.edu	37	10	90986679	90986679	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr10:90986679C>T	ENST00000336233.5	-	5	833	c.511G>A	c.(511-513)Gtg>Atg	p.V171M	LIPA_ENST00000371837.1_Missense_Mutation_p.V115M|LIPA_ENST00000456827.1_Missense_Mutation_p.V171M			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	171					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)	p.V171M(1)		endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		GAATGACCCACATAATACACT	0.333																																						uc001kga.3																			1	Substitution - Missense(1)		lung(1)		0						c.(511-513)GTG>ATG		lipase A precursor							163.0	152.0	156.0					10																	90986679		2203	4300	6503	SO:0001583	missense	3988				lipid catabolic process	lysosome	lipase activity|sterol esterase activity	g.chr10:90986679C>T	M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"""Wolman disease"""	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.511G>A	10.37:g.90986679C>T	ENSP00000337354:p.Val171Met					LIPA_uc001kgb.3_Missense_Mutation_p.V115M|LIPA_uc001kgc.3_Missense_Mutation_p.V173M|LIPA_uc010qnf.1_5'Flank|LIPA_uc009xtq.2_Missense_Mutation_p.V171M	p.V171M	NM_000235	NP_000226	P38571	LICH_HUMAN		GBM - Glioblastoma multiforme(2;0.00406)	5	679	-		Colorectal(252;0.0162)	171					B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Missense_Mutation	SNP	ENST00000336233.5	37	c.511G>A	CCDS7401.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534272	0.64972	.	.	ENSG00000107798	ENST00000336233;ENST00000371837;ENST00000371829;ENST00000541980;ENST00000354621;ENST00000456827;ENST00000425287;ENST00000428800;ENST00000282673	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	4.72	3.82	0.43975	Alpha/beta hydrolase fold-1 (1);	0.245514	0.41097	D	0.000960	D	0.82407	0.5030	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.79108	0.934;0.992;0.991	D	0.85197	0.1013	10	0.87932	D	0	-14.6254	10.946	0.47301	0.0:0.8402:0.0:0.1598	.	173;115;171	E7EUT7;P38571-2;P38571	.;.;LICH_HUMAN	M	171;115;171;171;129;171;173;171;171	ENSP00000337354:V171M;ENSP00000360903:V115M;ENSP00000413019:V171M;ENSP00000388415:V171M;ENSP00000282673:V171M	ENSP00000282673:V171M	V	-	1	0	LIPA	90976659	0.993000	0.37304	1.000000	0.80357	0.999000	0.98932	0.900000	0.28431	1.590000	0.49995	0.655000	0.94253	GTG		PASS	0.333	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049308.1	NM_000235		32	45	32	45	---	---	---	---
BTAF1	9044	broad.mit.edu	37	10	93768864	93768864	+	Silent	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr10:93768864G>A	ENST00000265990.6	+	28	4310	c.4002G>A	c.(4000-4002)ccG>ccA	p.P1334P	BTAF1_ENST00000544642.1_Silent_p.P162P	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1334	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P1334P(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGGTTTGTCCGCCAACATTAA	0.408																																						uc001khr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(4000-4002)CCG>CCA		BTAF1 RNA polymerase II, B-TFIID transcription							115.0	103.0	107.0					10																	93768864		2203	4300	6503	SO:0001819	synonymous_variant	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93768864G>A	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.4002G>A	10.37:g.93768864G>A							p.P1334P	NM_003972	NP_003963	O14981	BTAF1_HUMAN			28	4100	+		Colorectal(252;0.0846)	1334			Helicase ATP-binding.		B4E0W6|O43578	Silent	SNP	ENST00000265990.6	37	c.4002G>A	CCDS7419.1																																																																																				PASS	0.408	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		16	51	16	51	---	---	---	---
PNLIP	5406	broad.mit.edu	37	10	118314758	118314758	+	Nonsense_Mutation	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr10:118314758A>T	ENST00000369221.2	+	7	668	c.640A>T	c.(640-642)Aaa>Taa	p.K214*		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	214					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.K214*(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	CAGCGATGCCAAATTTGTGGA	0.478																																						uc001lcm.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(640-642)AAA>TAA		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						83.0	76.0	78.0					10																	118314758		2203	4300	6503	SO:0001587	stop_gained	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118314758A>T	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.640A>T	10.37:g.118314758A>T	ENSP00000358223:p.Lys214*						p.K214*	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	7	683	+			214					Q5VSQ2	Nonsense_Mutation	SNP	ENST00000369221.2	37	c.640A>T	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.560255	0.65538	.	.	ENSG00000175535	ENST00000369221	.	.	.	6.07	0.476	0.16779	.	0.889113	0.09762	N	0.759083	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.0464	0.09774	0.3508:0.403:0.1703:0.076	.	.	.	.	X	214	.	ENSP00000358223:K214X	K	+	1	0	PNLIP	118304748	0.000000	0.05858	0.023000	0.16930	0.422000	0.31414	-0.253000	0.08794	0.384000	0.24942	-0.223000	0.12442	AAA		PASS	0.478	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		28	23	28	23	---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1080602	1080602	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:1080602A>G	ENST00000441003.2	+	9	1271	c.1244A>G	c.(1243-1245)tAt>tGt	p.Y415C	MUC2_ENST00000359061.5_Missense_Mutation_p.Y415C	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	415	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.Y415C(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GACTGCTACTATGTCCTGGCC	0.667																																						uc001lsx.1																			2	Substitution - Missense(2)		lung(2)	lung(1)|breast(1)	2						c.(1243-1245)TAT>TGT		mucin 2 precursor	Pranlukast(DB01411)						27.0	30.0	29.0					11																	1080602		2007	4177	6184	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1080602A>G	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1244A>G	11.37:g.1080602A>G	ENSP00000415183:p.Tyr415Cys						p.Y415C	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	9	1271	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	415			VWFD 2.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.1244A>G		.	.	.	.	.	.	.	.	.	.	A	12.58	1.979368	0.34942	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.64991	-0.13;-0.13	3.93	3.93	0.45458	.	0.000000	0.56097	U	0.000024	D	0.84460	0.5477	H	0.96547	3.84	0.48901	D	0.999728	D	0.89917	1.0	D	0.97110	1.0	D	0.89209	0.3563	10	0.87932	D	0	.	13.2181	0.59871	1.0:0.0:0.0:0.0	.	415	E7EUV1	.	C	415	ENSP00000415183:Y415C;ENSP00000351956:Y415C	ENSP00000351956:Y415C	Y	+	2	0	MUC2	1070602	1.000000	0.71417	0.924000	0.36721	0.451000	0.32288	7.158000	0.77470	1.799000	0.52666	0.402000	0.26972	TAT		PASS	0.667	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		8	30	8	30	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1263832	1263832	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:1263832A>G	ENST00000529681.1	+	31	5780	c.5722A>G	c.(5722-5724)Aca>Gca	p.T1908A	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T1911A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1908	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T1908A(1)|p.T1911A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGGATCCTCACAAAGCCGAC	0.642																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(7801-7803)ACA>GCA		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							95.0	120.0	111.0					11																	1263832		2165	4243	6408	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263832A>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5722A>G	11.37:g.1263832A>G	ENSP00000436812:p.Thr1908Ala					MUC5B_uc001ltb.2_Missense_Mutation_p.T1911A	p.T2601A	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	47	7927	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1908			7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.7801A>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	6.502	0.460913	0.12342	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.20332	2.08;2.27	1.49	-2.97	0.05530	.	.	.	.	.	T	0.16385	0.0394	L	0.57536	1.79	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.11329	0.002;0.006	T	0.31724	-0.9933	9	0.87932	D	0	.	1.278	0.02034	0.4709:0.2467:0.1294:0.1531	.	2601;1911	A7Y9J9;E9PBJ0	.;.	A	1908;1911;1909;1978	ENSP00000436812:T1908A;ENSP00000415793:T1911A	ENSP00000343037:T1909A	T	+	1	0	MUC5B	1220408	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.436000	0.06922	-1.861000	0.01153	0.113000	0.15668	ACA		PASS	0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		48	70	48	70	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651380	1651380	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:1651380G>T	ENST00000399676.2	+	1	348	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	104	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.V104L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		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;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTCCTGTGGGGTGTCCAAGGG	0.682																																						uc001lty.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(310-312)GTG>TTG		keratin associated protein 5-5							52.0	68.0	62.0					11																	1651380		2199	4296	6495	SO:0001583	missense	439915					keratin filament		g.chr11:1651380G>T	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.310G>T	11.37:g.1651380G>T	ENSP00000382584:p.Val104Leu						p.V104L	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	348	+		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)	104			8 X 4 AA repeats of C-C-X-P.		A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.310G>T	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	-	6.049	0.377339	0.11466	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.00995	5.46	2.67	1.72	0.24424	.	.	.	.	.	T	0.00936	0.0031	L	0.29908	0.895	0.09310	N	0.999996	B	0.09022	0.002	B	0.01281	0.0	T	0.46843	-0.9162	9	0.72032	D	0.01	.	6.0296	0.19673	0.1675:0.0:0.8325:0.0	.	104	Q701N2	KRA55_HUMAN	L	104;75	ENSP00000382584:V104L	ENSP00000382584:V104L	V	+	1	0	KRTAP5-5	1607956	0.002000	0.14202	0.989000	0.46669	0.003000	0.03518	-0.462000	0.06704	0.417000	0.25871	0.416000	0.27883	GTG		PASS	0.682	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			65	81	65	81	---	---	---	---
CTSD	1509	broad.mit.edu	37	11	1780299	1780299	+	Missense_Mutation	SNP	T	T	C	rs375052866		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:1780299T>C	ENST00000236671.2	-	4	503	c.371A>G	c.(370-372)aAc>aGc	p.N124S	AC068580.6_ENST00000449248.1_RNA|RP11-295K3.1_ENST00000427721.1_5'Flank	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	124					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.N124S(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)"""	CTTGTCGCTGTTGTACTTGTG	0.627																																						uc001luc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)AAC>AGC		cathepsin D preproprotein	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)		SER/ASN	0,4404		0,0,2202	314.0	261.0	279.0		371	4.0	0.6	11		279	1,8597	1.2+/-3.3	0,1,4298	no	missense	CTSD	NM_001909.4	46	0,1,6500	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	124/413	1780299	1,13001	2202	4299	6501	SO:0001583	missense	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1780299T>C	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.371A>G	11.37:g.1780299T>C	ENSP00000236671:p.Asn124Ser					CTSD_uc009yda.1_RNA	p.N124S	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)	4	504	-		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)	124					Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	c.371A>G	CCDS7725.1	.	.	.	.	.	.	.	.	.	.	t	16.07	3.019483	0.54576	0.0	1.16E-4	ENSG00000117984	ENST00000236671;ENST00000438213;ENST00000367196	T;T;T	0.61392	0.11;0.36;0.21	3.95	3.95	0.45737	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.288040	0.37219	N	0.002199	T	0.70351	0.3214	M	0.84948	2.725	0.46749	D	0.999188	P	0.46621	0.881	P	0.51657	0.676	T	0.75124	-0.3428	9	.	.	.	.	13.1481	0.59474	0.0:0.0:0.0:1.0	.	124	P07339	CATD_HUMAN	S	124;109;89	ENSP00000236671:N124S;ENSP00000415036:N109S;ENSP00000356164:N89S	.	N	-	2	0	CTSD	1736875	1.000000	0.71417	0.593000	0.28771	0.087000	0.18053	5.485000	0.66850	1.564000	0.49628	0.353000	0.21931	AAC		PASS	0.627	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		87	113	87	113	---	---	---	---
TH	7054	broad.mit.edu	37	11	2189775	2189775	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:2189775G>A	ENST00000381178.1	-	4	544	c.526C>T	c.(526-528)Ctc>Ttc	p.L176F	TH_ENST00000352909.3_Missense_Mutation_p.L145F|TH_ENST00000333684.5_Missense_Mutation_p.L149F|TH_ENST00000381175.1_Missense_Mutation_p.L172F	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	176					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)	p.L176F(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	ACACCACTGAGCAGGGCGGCC	0.697																																						uc001lvq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(526-528)CTC>TTC		tyrosine hydroxylase isoform a	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						15.0	17.0	16.0					11																	2189775		2189	4281	6470	SO:0001583	missense	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2189775G>A	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.526C>T	11.37:g.2189775G>A	ENSP00000370571:p.Leu176Phe					TH_uc001lvp.2_Missense_Mutation_p.L172F|TH_uc001lvr.2_Missense_Mutation_p.L145F|TH_uc010qxj.1_Missense_Mutation_p.L149F|TH_uc001lvs.2_Missense_Mutation_p.L145F|TH_uc001lvt.2_Missense_Mutation_p.L149F|TH_uc009ydh.1_5'Flank	p.L176F	NM_199292	NP_954986	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	4	545	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	176					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	c.526C>T	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866554	0.32977	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.98822	-5.16;-5.16;-5.16;-5.16	3.67	2.73	0.32206	.	0.331545	0.30969	U	0.008502	D	0.97773	0.9269	L	0.57536	1.79	0.31272	N	0.691677	B;B;B;P;P;P	0.48162	0.248;0.435;0.435;0.906;0.848;0.906	B;B;B;P;P;P	0.54270	0.206;0.224;0.224;0.747;0.564;0.747	D	0.95914	0.8925	10	0.39692	T	0.17	-10.2467	6.7829	0.23657	0.0:0.1557:0.5121:0.3322	.	149;149;145;145;176;172	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	F	176;172;145;149	ENSP00000370571:L176F;ENSP00000370567:L172F;ENSP00000325951:L145F;ENSP00000328814:L149F	ENSP00000328814:L149F	L	-	1	0	TH	2146351	1.000000	0.71417	0.953000	0.39169	0.098000	0.18820	1.962000	0.40442	0.634000	0.30469	0.491000	0.48974	CTC		PASS	0.697	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		12	20	12	20	---	---	---	---
OR52I1	390037	broad.mit.edu	37	11	4615690	4615690	+	Missense_Mutation	SNP	C	C	G	rs202168611		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:4615690C>G	ENST00000530443.2	+	1	422	c.422C>G	c.(421-423)aCg>aGg	p.T141R	OR52I1_ENST00000450052.2_Missense_Mutation_p.T165R	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T166R(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAATTCTCACGCCTCAAGTG	0.512																																						uc010qyi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(421-423)ACG>AGG		olfactory receptor, family 52, subfamily I,							78.0	72.0	74.0					11																	4615690		2201	4298	6499	SO:0001583	missense	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615690C>G	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.422C>G	11.37:g.4615690C>G	ENSP00000436453:p.Thr141Arg						p.T141R	NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	422	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	141			Cytoplasmic (Potential).		Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	c.422C>G	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.517144	0.27123	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.00378	7.66;7.66	4.96	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000314	T	0.00468	0.0015	M	0.78456	2.415	0.29894	N	0.824981	B	0.32031	0.352	B	0.36335	0.222	T	0.29088	-1.0023	9	0.87932	D	0	-12.5133	11.5906	0.50943	0.0:0.8206:0.1794:0.0	.	141	Q8NGK6	O52I1_HUMAN	R	165;141	ENSP00000409094:T165R;ENSP00000436453:T141R	ENSP00000409094:T165R	T	+	2	0	OR52I1	4572266	0.012000	0.17670	0.987000	0.45799	0.544000	0.35116	0.134000	0.15932	1.451000	0.47736	-0.273000	0.10243	ACG		PASS	0.512	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		36	62	36	62	---	---	---	---
OR51A4	401666	broad.mit.edu	37	11	4967584	4967584	+	Silent	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:4967584C>G	ENST00000380373.2	-	1	772	c.747G>C	c.(745-747)gtG>gtC	p.V249V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V249V(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAAGATGATCACTGCACAGA	0.483																																						uc010qys.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(745-747)GTG>GTC		olfactory receptor, family 51, subfamily A,							132.0	127.0	129.0					11																	4967584		2201	4296	6497	SO:0001819	synonymous_variant	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967584C>G	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.747G>C	11.37:g.4967584C>G							p.V249V	NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	747	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	249			Helical; Name=6; (Potential).			Silent	SNP	ENST00000380373.2	37	c.747G>C	CCDS31367.1																																																																																				PASS	0.483	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		45	126	45	126	---	---	---	---
OR51Q1	390061	broad.mit.edu	37	11	5444139	5444139	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:5444139C>A	ENST00000300778.4	+	1	799	c.709C>A	c.(709-711)Ctc>Atc	p.L237I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L237I(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTGAGCGACTCCGTGCCCT	0.483																																						uc010qzd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(709-711)CTC>ATC		olfactory receptor, family 51, subfamily Q,							138.0	115.0	123.0					11																	5444139		2201	4297	6498	SO:0001583	missense	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5444139C>A	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.709C>A	11.37:g.5444139C>A	ENSP00000300778:p.Leu237Ile					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.L237I	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	709	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	237			Cytoplasmic (Potential).		B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	c.709C>A	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	C	5.161	0.215320	0.09810	.	.	ENSG00000167360	ENST00000300778	T	0.00123	8.7	5.0	0.814	0.18756	GPCR, rhodopsin-like superfamily (1);	0.525977	0.17356	N	0.177219	T	0.00178	0.0005	M	0.83953	2.67	0.09310	N	1	B	0.19817	0.039	B	0.24269	0.052	T	0.47071	-0.9145	10	0.48119	T	0.1	.	2.0343	0.03536	0.1369:0.4797:0.1333:0.2501	.	237	Q8NH59	O51Q1_HUMAN	I	237	ENSP00000300778:L237I	ENSP00000300778:L237I	L	+	1	0	OR51Q1	5400715	0.000000	0.05858	0.001000	0.08648	0.140000	0.21249	-1.419000	0.02460	0.011000	0.14865	0.380000	0.24917	CTC		PASS	0.483	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		53	93	53	93	---	---	---	---
ZNF215	7762	broad.mit.edu	37	11	6977277	6977277	+	Missense_Mutation	SNP	T	T	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:6977277T>A	ENST00000278319.5	+	7	1657	c.1069T>A	c.(1069-1071)Tat>Aat	p.Y357N	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.Y357N|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	357					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y357N(1)		NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AGAATATGAATATGGGAATGA	0.348																																						uc001mey.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1069-1071)TAT>AAT		zinc finger protein 215							56.0	57.0	57.0					11																	6977277		2201	4296	6497	SO:0001583	missense	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6977277T>A	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1069T>A	11.37:g.6977277T>A	ENSP00000278319:p.Tyr357Asn					ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Missense_Mutation_p.Y119N|ZNF215_uc001mez.1_Intron	p.Y357N	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	7	1657	+			357					Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	c.1069T>A	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	T	10.47	1.358067	0.24598	.	.	ENSG00000149054	ENST00000278319;ENST00000414517	T;T	0.05925	3.37;3.37	4.7	2.28	0.28536	.	1.272330	0.05424	N	0.544685	T	0.03783	0.0107	N	0.08118	0	0.80722	D	1	B	0.31519	0.327	B	0.19391	0.025	T	0.22487	-1.0215	10	0.87932	D	0	2.9049	6.5836	0.22609	0.1534:0.0:0.1602:0.6864	.	357	Q9UL58	ZN215_HUMAN	N	357	ENSP00000278319:Y357N;ENSP00000393202:Y357N	ENSP00000278319:Y357N	Y	+	1	0	ZNF215	6933853	1.000000	0.71417	0.003000	0.11579	0.016000	0.09150	4.536000	0.60636	0.357000	0.24183	0.533000	0.62120	TAT		PASS	0.348	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			20	65	20	65	---	---	---	---
GTF2H1	2965	broad.mit.edu	37	11	18362877	18362877	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:18362877A>G	ENST00000265963.4	+	6	837	c.677A>G	c.(676-678)cAg>cGg	p.Q226R	GTF2H1_ENST00000524753.4_Missense_Mutation_p.Q22R|GTF2H1_ENST00000453096.2_Missense_Mutation_p.Q226R|GTF2H1_ENST00000534641.1_Missense_Mutation_p.Q110R	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	226	BSD 2. {ECO:0000255|PROSITE- ProRule:PRU00036}.				7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.Q226R(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CGTTTTTTCCAGTCCCATTAT	0.363								Nucleotide excision repair (NER)																														uc001moi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(676-678)CAG>CGG	NER	general transcription factor IIH, polypeptide 1,							101.0	98.0	99.0					11																	18362877		2199	4293	6492	SO:0001583	missense	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18362877A>G		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.677A>G	11.37:g.18362877A>G	ENSP00000265963:p.Gln226Arg					GTF2H1_uc001moh.2_Missense_Mutation_p.Q226R|GTF2H1_uc009yhm.2_Missense_Mutation_p.Q110R	p.Q226R	NM_001142307	NP_001135779	P32780	TF2H1_HUMAN			7	1371	+			226			BSD 2.		B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	ENST00000265963.4	37	c.677A>G	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.813505	0.90790	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963;ENST00000524753	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.18	5.18	0.71444	BSD (3);	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	L	0.55481	1.735	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	T	0.55341	-0.8156	10	0.33940	T	0.23	-10.0816	15.039	0.71774	1.0:0.0:0.0:0.0	.	226	P32780	TF2H1_HUMAN	R	226;110;226;22	ENSP00000393638:Q226R;ENSP00000435375:Q110R;ENSP00000265963:Q226R;ENSP00000436575:Q22R	ENSP00000265963:Q226R	Q	+	2	0	GTF2H1	18319453	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.711000	0.91396	1.968000	0.57251	0.459000	0.35465	CAG		PASS	0.363	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316		14	72	14	72	---	---	---	---
ANO3	63982	broad.mit.edu	37	11	26663489	26663489	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:26663489C>A	ENST00000256737.3	+	22	3040	c.2188C>A	c.(2188-2190)Cat>Aat	p.H730N	ANO3_ENST00000525139.1_Missense_Mutation_p.H714N|ANO3_ENST00000537978.1_Missense_Mutation_p.H714N|ANO3_ENST00000531568.1_Missense_Mutation_p.H584N	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	730					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.H730N(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GCGGGGAATACATGATGCTTC	0.433																																						uc001mqt.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2188-2190)CAT>AAT		transmembrane protein 16C							146.0	134.0	138.0					11																	26663489		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26663489C>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2188C>A	11.37:g.26663489C>A	ENSP00000256737:p.His730Asn					ANO3_uc010rdr.1_Missense_Mutation_p.H714N|ANO3_uc010rds.1_Missense_Mutation_p.H569N|ANO3_uc010rdt.1_Missense_Mutation_p.H584N	p.H730N	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			22	2333	+			730			Extracellular (Potential).		B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.2188C>A	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424249	0.25639	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	6.07	6.07	0.98685	.	0.274630	0.37906	N	0.001889	T	0.54647	0.1871	N	0.25647	0.755	0.39802	D	0.972581	B;B	0.20164	0.042;0.0	B;B	0.25759	0.063;0.001	T	0.46512	-0.9186	10	0.28530	T	0.3	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	632;730	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	N	714;714;730;632;584	ENSP00000440737:H714N;ENSP00000432576:H714N;ENSP00000256737:H730N;ENSP00000432394:H584N	ENSP00000256737:H730N	H	+	1	0	ANO3	26620065	1.000000	0.71417	0.170000	0.22879	0.316000	0.28119	5.914000	0.69964	2.885000	0.99019	0.655000	0.94253	CAT		PASS	0.433	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		26	88	26	88	---	---	---	---
CD44	960	broad.mit.edu	37	11	35227757	35227757	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:35227757A>G	ENST00000428726.2	+	11	1504	c.1381A>G	c.(1381-1383)Atg>Gtg	p.M461V	CD44_ENST00000263398.6_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.M418V|CD44_ENST00000526669.2_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.M461V|CD44_ENST00000433892.2_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.M462V|CD44_ENST00000415148.2_Missense_Mutation_p.M418V	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	461	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.M461V(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	CTCACACCCCATGGGACGAGG	0.453																																						uc001mvu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1381-1383)ATG>GTG		CD44 antigen isoform 1 precursor	Hyaluronidase(DB00070)						202.0	171.0	181.0					11																	35227757		2202	4298	6500	SO:0001583	missense	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35227757A>G	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1381A>G	11.37:g.35227757A>G	ENSP00000398632:p.Met461Val					CD44_uc001mvv.2_Missense_Mutation_p.M418V|CD44_uc001mvw.2_Intron|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Missense_Mutation_p.M25V|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Intron	p.M461V	NM_000610	NP_000601	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		11	1815	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	461			Extracellular (Potential).|Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	c.1381A>G	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.522|5.522	0.281310|0.281310	0.10458|0.10458	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000526553|ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000428726;ENST00000525211;ENST00000531110	.|T;T;T;T;T;T;T	.|0.20200	.|2.09;2.09;2.09;2.09;2.09;2.24;2.09	4.85|4.85	3.72|3.72	0.42706|0.42706	.|.	.|0.463649	.|0.23847	.|N	.|0.043991	T|T	0.15003|0.15003	0.0362|0.0362	L|L	0.38838|0.38838	1.175|1.175	0.80722|0.80722	D|D	1|1	.|B;B	.|0.20550	.|0.046;0.027	.|B;B	.|0.21708	.|0.036;0.016	T|T	0.07578|0.07578	-1.0765|-1.0765	5|10	.|0.25106	.|T	.|0.35	-24.7064|-24.7064	7.2995|7.2995	0.26411|0.26411	0.9014:0.0:0.0986:0.0|0.9014:0.0:0.0986:0.0	.|.	.|418;461	.|P16070-4;P16070	.|.;CD44_HUMAN	R|V	113|418;462;418;461;461;235;173	.|ENSP00000389830:M418V;ENSP00000414567:M462V;ENSP00000391008:M418V;ENSP00000403990:M461V;ENSP00000398632:M461V;ENSP00000432405:M235V;ENSP00000436549:M173V	.|ENSP00000389830:M418V	H|M	+|+	2|1	0|0	CD44|CD44	35184333|35184333	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.002000|0.002000	0.02628|0.02628	1.640000|1.640000	0.37186|0.37186	0.988000|0.988000	0.38734|0.38734	-0.250000|-0.250000	0.11733|0.11733	CAT|ATG		PASS	0.453	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		42	74	42	74	---	---	---	---
ALX4	60529	broad.mit.edu	37	11	44286614	44286614	+	Silent	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:44286614C>G	ENST00000329255.3	-	4	1129	c.1026G>C	c.(1024-1026)ggG>ggC	p.G342G		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	342					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G342G(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CGCTGCTGGCCCCAGAGCCAG	0.687																																						uc001myb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1024-1026)GGG>GGC		aristaless-like homeobox 4							29.0	30.0	30.0					11																	44286614		2203	4297	6500	SO:0001819	synonymous_variant	60529				hair follicle development			g.chr11:44286614C>G	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.1026G>C	11.37:g.44286614C>G							p.G342G	NM_021926	NP_068745	Q9H161	ALX4_HUMAN			4	1130	-			342					Q96JN7|Q9H198|Q9HAY9	Silent	SNP	ENST00000329255.3	37	c.1026G>C	CCDS31468.1																																																																																				PASS	0.687	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			26	29	26	29	---	---	---	---
PHF21A	51317	broad.mit.edu	37	11	45970972	45970972	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:45970972C>T	ENST00000418153.2	-	12	1404	c.1205G>A	c.(1204-1206)gGa>gAa	p.G402E	PHF21A_ENST00000323180.6_Missense_Mutation_p.G403E|PHF21A_ENST00000527753.1_5'UTR|PHF21A_ENST00000257821.4_Missense_Mutation_p.G403E			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	402					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G402E(1)|p.G403E(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						AAAGACTGCTCCACTGTAGAC	0.463																																						uc001ncc.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(1204-1206)GGA>GAA		BRAF35/HDAC2 complex isoform a							269.0	247.0	254.0					11																	45970972		2202	4299	6501	SO:0001583	missense	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:45970972C>T	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1205G>A	11.37:g.45970972C>T	ENSP00000398824:p.Gly402Glu					PHF21A_uc001ncb.3_Missense_Mutation_p.G403E|PHF21A_uc009ykx.2_Missense_Mutation_p.G403E|PHF21A_uc001nce.2_Missense_Mutation_p.G403E|PHF21A_uc001nca.1_Missense_Mutation_p.G138E	p.G402E	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN			12	1829	-			402					D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	ENST00000418153.2	37	c.1205G>A	CCDS44578.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599872	0.87055	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153	T;T;T	0.65364	-0.15;-0.15;-0.15	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.78553	0.4301	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.71344	-0.4621	10	0.12430	T	0.62	-6.7454	20.2562	0.98421	0.0:1.0:0.0:0.0	.	402;403;403	Q96BD5;Q96BD5-2;Q96BD5-3	PF21A_HUMAN;.;.	E	403;403;402	ENSP00000257821:G403E;ENSP00000323152:G403E;ENSP00000398824:G402E	ENSP00000257821:G403E	G	-	2	0	PHF21A	45927548	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.563000	0.73964	2.797000	0.96272	0.563000	0.77884	GGA		PASS	0.463	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		57	123	57	123	---	---	---	---
OR5D14	219436	broad.mit.edu	37	11	55563689	55563689	+	Missense_Mutation	SNP	T	T	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:55563689T>G	ENST00000335605.1	+	1	658	c.658T>G	c.(658-660)Tat>Gat	p.Y220D		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y220D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CCTCACTTCCTATGTTTTCAT	0.473																																						uc010rim.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(658-660)TAT>GAT		olfactory receptor, family 5, subfamily D,							187.0	175.0	179.0					11																	55563689		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563689T>G	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.658T>G	11.37:g.55563689T>G	ENSP00000334456:p.Tyr220Asp						p.Y220D	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	658	+		all_epithelial(135;0.196)	220			Cytoplasmic (Potential).		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.658T>G	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	t	12.22	1.872691	0.33069	.	.	ENSG00000186113	ENST00000335605	T	0.00520	6.85	5.08	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41194	D	0.000938	T	0.04137	0.0115	H	0.99404	4.55	0.25132	N	0.990561	D	0.89917	1.0	D	0.97110	1.0	T	0.32508	-0.9904	10	0.87932	D	0	-19.6	11.0502	0.47882	0.0:0.0:0.156:0.844	.	220	Q8NGL3	OR5DE_HUMAN	D	220	ENSP00000334456:Y220D	ENSP00000334456:Y220D	Y	+	1	0	OR5D14	55320265	0.998000	0.40836	0.005000	0.12908	0.049000	0.14656	4.349000	0.59385	0.764000	0.33197	0.523000	0.50628	TAT		PASS	0.473	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		29	124	29	124	---	---	---	---
OR5L2	26338	broad.mit.edu	37	11	55595037	55595037	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:55595037C>A	ENST00000378397.1	+	1	343	c.343C>A	c.(343-345)Ctg>Atg	p.L115M		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L115M(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GGTCTTCCTGCTGGCCGTGAT	0.512										HNSCC(27;0.073)																												uc001nhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(343-345)CTG>ATG		olfactory receptor, family 5, subfamily L,							178.0	164.0	169.0					11																	55595037		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595037C>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.343C>A	11.37:g.55595037C>A	ENSP00000367650:p.Leu115Met	HNSCC(27;0.073)					p.L115M	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	343	+		all_epithelial(135;0.208)	115			Helical; Name=3; (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.343C>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	16.96	3.266727	0.59540	.	.	ENSG00000205030	ENST00000378397	T	0.02085	4.46	5.18	1.17	0.20885	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39544	N	0.001340	T	0.12774	0.0310	M	0.90483	3.12	0.31317	N	0.686438	D	0.89917	1.0	D	0.75484	0.986	T	0.02471	-1.1154	10	0.87932	D	0	-26.3304	9.4166	0.38525	0.0:0.7008:0.0:0.2992	.	115	Q8NGL0	OR5L2_HUMAN	M	115	ENSP00000367650:L115M	ENSP00000367650:L115M	L	+	1	2	OR5L2	55351613	0.000000	0.05858	0.943000	0.38184	0.911000	0.54048	-0.506000	0.06359	0.312000	0.23038	0.626000	0.83405	CTG		PASS	0.512	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		81	129	81	129	---	---	---	---
OR5L2	26338	broad.mit.edu	37	11	55595193	55595193	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:55595193C>G	ENST00000378397.1	+	1	499	c.499C>G	c.(499-501)Ctc>Gtc	p.L167V		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L167V(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCTTAGGATCCTCTTCTATAG	0.478										HNSCC(27;0.073)																												uc001nhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(499-501)CTC>GTC		olfactory receptor, family 5, subfamily L,							217.0	195.0	202.0					11																	55595193		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595193C>G	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.499C>G	11.37:g.55595193C>G	ENSP00000367650:p.Leu167Val	HNSCC(27;0.073)					p.L167V	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	499	+		all_epithelial(135;0.208)	167			Extracellular (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.499C>G	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	3.301	-0.142958	0.06669	.	.	ENSG00000205030	ENST00000378397	T	0.00069	8.77	4.65	0.37	0.16160	GPCR, rhodopsin-like superfamily (1);	0.539284	0.17115	N	0.186450	T	0.00073	0.0002	N	0.12569	0.235	0.09310	N	1	B	0.16603	0.018	B	0.22601	0.04	T	0.22347	-1.0219	10	0.62326	D	0.03	-0.3986	4.9215	0.13872	0.2645:0.5293:0.1289:0.0774	.	167	Q8NGL0	OR5L2_HUMAN	V	167	ENSP00000367650:L167V	ENSP00000367650:L167V	L	+	1	0	OR5L2	55351769	0.000000	0.05858	0.004000	0.12327	0.016000	0.09150	-1.345000	0.02637	0.229000	0.21039	0.626000	0.83405	CTC		PASS	0.478	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		63	140	63	140	---	---	---	---
OR6Q1	219952	broad.mit.edu	37	11	57799212	57799212	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:57799212A>T	ENST00000302622.3	+	1	811	c.788A>T	c.(787-789)tAt>tTt	p.Y263F	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y263F(1)		biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TTCTTTATGTATGTCCAGACC	0.507																																						uc010rjz.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(787-789)TAT>TTT		olfactory receptor, family 6, subfamily Q,							180.0	162.0	168.0					11																	57799212		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57799212A>T	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.788A>T	11.37:g.57799212A>T	ENSP00000307734:p.Tyr263Phe					OR9Q1_uc001nmj.2_Intron	p.Y263F	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN			1	788	+		Breast(21;0.0707)|all_epithelial(135;0.142)	263			Extracellular (Potential).		B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.788A>T	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.228159	0.58777	.	.	ENSG00000172381	ENST00000302622	T	0.00291	8.27	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34986	N	0.003537	T	0.00998	0.0033	M	0.93854	3.465	0.29124	N	0.880072	D	0.89917	1.0	D	0.91635	0.999	T	0.05022	-1.0911	10	0.87932	D	0	.	13.9727	0.64252	1.0:0.0:0.0:0.0	.	263	Q8NGQ2	OR6Q1_HUMAN	F	263	ENSP00000307734:Y263F	ENSP00000307734:Y263F	Y	+	2	0	OR6Q1	57555788	1.000000	0.71417	0.446000	0.26920	0.681000	0.39784	6.620000	0.74224	1.943000	0.56356	0.523000	0.50628	TAT		PASS	0.507	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		48	166	48	166	---	---	---	---
MS4A6A	64231	broad.mit.edu	37	11	59945748	59945748	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:59945748C>A	ENST00000530839.1	-	5	816	c.324G>T	c.(322-324)agG>agT	p.R108S	MS4A6A_ENST00000529054.1_Missense_Mutation_p.R136S|MS4A6A_ENST00000412309.2_Missense_Mutation_p.R136S|MS4A6A_ENST00000420732.2_Missense_Mutation_p.R108S|MS4A6A_ENST00000426738.2_Missense_Mutation_p.R63S|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000529906.1_5'UTR|MS4A6A_ENST00000323961.3_Missense_Mutation_p.R108S|MS4A6A_ENST00000528851.1_Missense_Mutation_p.R108S	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	108						integral component of membrane (GO:0016021)		p.R136S(1)|p.R108S(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCTTGGTTAACCTTTTCTCTG	0.388																																						uc001nor.2																			2	Substitution - Missense(2)		lung(2)		0						c.(322-324)AGG>AGT		membrane-spanning 4-domains, subfamily A, member							150.0	141.0	144.0					11																	59945748		2201	4295	6496	SO:0001583	missense	64231					integral to membrane	receptor activity	g.chr11:59945748C>A	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.324G>T	11.37:g.59945748C>A	ENSP00000436979:p.Arg108Ser					MS4A6A_uc001noq.2_Missense_Mutation_p.R108S|MS4A6A_uc001nos.3_Missense_Mutation_p.R136S|MS4A6A_uc009ymv.2_Missense_Mutation_p.R108S|MS4A6A_uc001not.2_Missense_Mutation_p.R108S|MS4A6A_uc010rla.1_Missense_Mutation_p.R136S|MS4A6A_uc010rlb.1_Missense_Mutation_p.R63S	p.R108S	NM_152852	NP_690591	Q9H2W1	M4A6A_HUMAN			4	562	-			108			Cytoplasmic (Potential).		A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	ENST00000530839.1	37	c.324G>T	CCDS7981.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.74|11.74	1.729528|1.729528	0.30684|0.30684	.|.	.|.	ENSG00000110077|ENSG00000110077	ENST00000533989|ENST00000323961;ENST00000528851;ENST00000420732;ENST00000530839;ENST00000529054;ENST00000426738;ENST00000412309	.|T;T;D;T;T;T;T	.|0.85339	.|4.33;4.33;-1.97;4.33;4.33;4.33;4.33	4.73|4.73	-0.904|-0.904	0.10530|0.10530	.|.	.|1.627620	.|0.03301	.|N	.|0.188973	T|T	0.78168|0.78168	0.4241|0.4241	L|L	0.28504|0.28504	0.86|0.86	0.09310|0.09310	N|N	1|1	.|P;P;P;P;P	.|0.43826	.|0.818;0.782;0.818;0.818;0.557	.|B;B;B;B;B	.|0.42163	.|0.285;0.26;0.378;0.378;0.167	T|T	0.66638|0.66638	-0.5873|-0.5873	6|10	0.87932|0.28530	D|T	0|0.3	.|.	7.703|7.703	0.28634|0.28634	0.0:0.4412:0.0:0.5588|0.0:0.4412:0.0:0.5588	.|.	.|63;136;136;108;108	.|E7EMT7;F8W9K1;E9PSA9;Q9H2W1;Q9H2W1-3	.|.;.;.;M4A6A_HUMAN;.	V|S	43|108;108;108;108;136;63;136	.|ENSP00000315878:R108S;ENSP00000431901:R108S;ENSP00000392921:R108S;ENSP00000436979:R108S;ENSP00000435844:R136S;ENSP00000392770:R63S;ENSP00000403212:R136S	ENSP00000435630:G120V|ENSP00000315878:R108S	G|R	-|-	2|3	0|2	MS4A6A|MS4A6A	59702324|59702324	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.361000|-0.361000	0.07612|0.07612	-0.045000|-0.045000	0.13468|0.13468	0.655000|0.655000	0.94253|0.94253	GGT|AGG		PASS	0.388	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			31	48	31	48	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62301521	62301521	+	Missense_Mutation	SNP	C	C	T	rs186340112	byFrequency	TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:62301521C>T	ENST00000378024.4	-	5	642	c.368G>A	c.(367-369)cGc>cAc	p.R123H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	123					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.R123H(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGTGTAGATGCGCTGGTACTC	0.602													C|||	2	0.000399361	0.0	0.0	5008	,	,		14079	0.0		0.002	False		,,,				2504	0.0					uc001ntl.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(367-369)CGC>CAC		AHNAK nucleoprotein isoform 1							63.0	53.0	56.0					11																	62301521		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62301521C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.368G>A	11.37:g.62301521C>T	ENSP00000367263:p.Arg123His					AHNAK_uc001ntk.1_Intron	p.R123H	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	668	-		Melanoma(852;0.155)	123					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.368G>A	CCDS31584.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	31	5.087297	0.94100	.	.	ENSG00000124942	ENST00000378024;ENST00000533743;ENST00000530285;ENST00000528508	T;T;T	0.60548	2.42;0.18;0.18	5.85	5.85	0.93711	.	0.000000	0.37623	U	0.002017	T	0.72293	0.3442	L	0.50333	1.59	0.43667	D	0.996091	D	0.89917	1.0	D	0.91635	0.999	T	0.66400	-0.5933	10	0.31617	T	0.26	-8.2932	19.7911	0.96458	0.0:1.0:0.0:0.0	.	123	Q09666	AHNK_HUMAN	H	123;47;123;123	ENSP00000367263:R123H;ENSP00000433286:R123H;ENSP00000435357:R123H	ENSP00000367263:R123H	R	-	2	0	AHNAK	62058097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.341000	0.59335	2.782000	0.95742	0.655000	0.94253	CGC		PASS	0.602	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		23	14	23	14	---	---	---	---
C2CD3	26005	broad.mit.edu	37	11	73829418	73829418	+	Missense_Mutation	SNP	T	T	C	rs141826355	byFrequency	TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:73829418T>C	ENST00000334126.7	-	9	1601	c.1375A>G	c.(1375-1377)Acc>Gcc	p.T459A	C2CD3_ENST00000313663.7_Missense_Mutation_p.T459A			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	459					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.T459A(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTGATGCTGGTATCAGATTTC	0.408																																						uc001ouu.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(2)|skin(1)	7						c.(1375-1377)ACC>GCC		C2 calcium-dependent domain containing 3							91.0	87.0	88.0					11																	73829418		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73829418T>C	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1375A>G	11.37:g.73829418T>C	ENSP00000334379:p.Thr459Ala					C2CD3_uc001ouv.2_Missense_Mutation_p.T459A	p.T459A	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			9	1602	-	Breast(11;4.16e-06)		459					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.1375A>G		.	.	.	.	.	.	.	.	.	.	T	12.11	1.840460	0.32513	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.09350	2.99;3.0	5.8	-1.67	0.08238	.	1.158840	0.05997	N	0.647032	T	0.08670	0.0215	L	0.36672	1.1	0.09310	N	1	B;B	0.20887	0.049;0.038	B;B	0.18561	0.017;0.022	T	0.41680	-0.9495	10	0.33940	T	0.23	1.4484	6.2377	0.20772	0.1472:0.352:0.0:0.5008	.	459;459	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	A	459	ENSP00000334379:T459A;ENSP00000323339:T459A	ENSP00000323339:T459A	T	-	1	0	C2CD3	73507066	0.064000	0.20934	0.031000	0.17742	0.995000	0.86356	0.196000	0.17176	0.040000	0.15660	0.528000	0.53228	ACC		PASS	0.408	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		41	80	41	80	---	---	---	---
PGM2L1	283209	broad.mit.edu	37	11	74054399	74054399	+	Silent	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:74054399T>C	ENST00000298198.4	-	10	1592	c.1281A>G	c.(1279-1281)aaA>aaG	p.K427K		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	427					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)	p.K427K(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					AAAGGACTTCTTTCCCATTTT	0.333																																						uc001ovb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1279-1281)AAA>AAG		phosphoglucomutase 2-like 1							68.0	69.0	69.0					11																	74054399		2200	4292	6492	SO:0001819	synonymous_variant	283209				glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	g.chr11:74054399T>C	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1281A>G	11.37:g.74054399T>C							p.K427K	NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN			10	1577	-	Breast(11;3.32e-06)		427					Q96MQ7|Q9UIK3	Silent	SNP	ENST00000298198.4	37	c.1281A>G	CCDS8231.1																																																																																				PASS	0.333	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		16	107	16	107	---	---	---	---
LRRC32	2615	broad.mit.edu	37	11	76371843	76371843	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:76371843G>T	ENST00000407242.2	-	3	1036	c.794C>A	c.(793-795)cCg>cAg	p.P265Q	LRRC32_ENST00000260061.5_Missense_Mutation_p.P265Q|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.P265Q	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	265					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)		p.P265Q(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GATGAGTCTCGGGAGCGCGGC	0.632																																						uc001oxq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(793-795)CCG>CAG		leucine rich repeat containing 32 precursor							61.0	60.0	60.0					11																	76371843		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76371843G>T	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.794C>A	11.37:g.76371843G>T	ENSP00000384126:p.Pro265Gln					LRRC32_uc001oxr.3_Missense_Mutation_p.P265Q|LRRC32_uc010rsf.1_Missense_Mutation_p.P265Q	p.P265Q	NM_005512	NP_005503	Q14392	LRC32_HUMAN			3	1037	-			265			LRR 9.|Extracellular (Potential).		Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.794C>A	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	G	9.125	1.010034	0.19277	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.80994	-1.44;-1.44;-1.44	4.55	3.56	0.40772	.	0.225743	0.43579	D	0.000543	T	0.71863	0.3390	N	0.20445	0.575	0.09310	N	1	D	0.61697	0.99	P	0.50659	0.647	T	0.62590	-0.6822	10	0.30854	T	0.27	.	10.0525	0.42225	0.0:0.0:0.5903:0.4097	.	265	Q14392	LRC32_HUMAN	Q	265	ENSP00000260061:P265Q;ENSP00000384126:P265Q;ENSP00000385766:P265Q	ENSP00000260061:P265Q	P	-	2	0	LRRC32	76049491	1.000000	0.71417	0.023000	0.16930	0.117000	0.20001	5.268000	0.65536	2.371000	0.80710	0.555000	0.69702	CCG		PASS	0.632	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		33	68	33	68	---	---	---	---
SYTL2	54843	broad.mit.edu	37	11	85422208	85422208	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:85422208G>A	ENST00000528231.1	-	11	2055	c.1778C>T	c.(1777-1779)cCg>cTg	p.P593L	SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.P915L|SYTL2_ENST00000527523.1_Missense_Mutation_p.P561L|SYTL2_ENST00000389958.3_Missense_Mutation_p.P24L|SYTL2_ENST00000359152.5_Missense_Mutation_p.P1439L|SYTL2_ENST00000529581.1_Missense_Mutation_p.P35L|SYTL2_ENST00000354566.3_Missense_Mutation_p.P931L|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525702.1_Missense_Mutation_p.P35L|SYTL2_ENST00000316356.4_Missense_Mutation_p.P594L|SYTL2_ENST00000533892.1_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	593	Ser-rich.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.P931L(1)|p.P594L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TAAAGAGCTCGGGCTCTTCTT	0.423																																						uc010rth.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(1777-1779)CCG>CTG		synaptotagmin-like 2 isoform g							166.0	167.0	167.0					11																	85422208		2203	4299	6502	SO:0001583	missense	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85422208G>A	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1778C>T	11.37:g.85422208G>A	ENSP00000431701:p.Pro593Leu					SYTL2_uc010rtg.1_Missense_Mutation_p.P594L|SYTL2_uc010rti.1_Intron|SYTL2_uc010rtj.1_Missense_Mutation_p.P561L|SYTL2_uc001pav.2_Missense_Mutation_p.P35L|SYTL2_uc010rte.1_Intron|SYTL2_uc001pax.2_Missense_Mutation_p.P35L|SYTL2_uc001paz.2_Intron|SYTL2_uc001pba.2_Intron|SYTL2_uc001pay.2_Missense_Mutation_p.P24L|SYTL2_uc001paw.2_Intron|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Intron|SYTL2_uc001pbb.2_Missense_Mutation_p.P931L|SYTL2_uc001pbc.2_Missense_Mutation_p.P915L|SYTL2_uc010rtf.1_Intron	p.P593L	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	11	2054	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	593			Ser-rich.		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.1778C>T	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574368	0.86542	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000316356;ENST00000525702;ENST00000525423;ENST00000529581;ENST00000389958;ENST00000528231;ENST00000527523;ENST00000529534;ENST00000534414;ENST00000526999;ENST00000532221;ENST00000524911	T;T;T;T;T;T;T;T;T;T	0.39787	1.55;1.53;1.59;1.06;1.53;1.06;1.07;1.57;1.47;1.9	6.06	6.06	0.98353	.	0.174361	0.52532	D	0.000072	T	0.63331	0.2502	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.89917	0.986;0.999;1.0;1.0;1.0;0.998	P;P;D;D;D;P	0.72625	0.685;0.866;0.953;0.97;0.978;0.866	T	0.56263	-0.8008	9	.	.	.	-10.0798	20.6397	0.99537	0.0:0.0:1.0:0.0	.	561;593;594;915;931;24	Q9HCH5-14;Q9HCH5;Q9HCH5-13;Q9HCH5-7;Q9HCH5-8;Q9HCH5-9	.;SYTL2_HUMAN;.;.;.;.	L	1439;931;594;35;915;35;24;593;561;35;88;35;35;35	ENSP00000352065:P1439L;ENSP00000346576:P931L;ENSP00000318803:P594L;ENSP00000432996:P35L;ENSP00000432694:P915L;ENSP00000435855:P35L;ENSP00000374608:P24L;ENSP00000431701:P593L;ENSP00000434010:P561L;ENSP00000432137:P35L	.	P	-	2	0	SYTL2	85099856	1.000000	0.71417	0.974000	0.42286	0.999000	0.98932	6.778000	0.75043	2.880000	0.98712	0.650000	0.86243	CCG		PASS	0.423	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		42	157	42	157	---	---	---	---
PRSS23	11098	broad.mit.edu	37	11	86519439	86519439	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:86519439C>T	ENST00000280258.5	+	2	1179	c.754C>T	c.(754-756)Ctc>Ttc	p.L252F	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.L220F	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	252						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.L252F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCTCCTGGAACTCAAAAAGCC	0.493																																						uc001pcb.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(754-756)CTC>TTC		protease, serine, 23 precursor							42.0	47.0	45.0					11																	86519439		2201	4299	6500	SO:0001583	missense	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86519439C>T	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.754C>T	11.37:g.86519439C>T	ENSP00000280258:p.Leu252Phe					PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.L220F	p.L252F	NM_007173	NP_009104	O95084	PRS23_HUMAN			2	970	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	252					B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	c.754C>T	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593584	0.86953	.	.	ENSG00000150687	ENST00000280258;ENST00000441050	D;D	0.92911	-3.13;-3.13	6.06	6.06	0.98353	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.000000	0.85682	D	0.000000	D	0.97306	0.9119	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97271	0.9911	9	.	.	.	-25.1095	20.6282	0.99521	0.0:1.0:0.0:0.0	.	220;252	B4E2J3;O95084	.;PRS23_HUMAN	F	252;220	ENSP00000280258:L252F;ENSP00000393015:L220F	.	L	+	1	0	PRSS23	86197087	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.392000	0.79840	2.871000	0.98454	0.655000	0.94253	CTC		PASS	0.493	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173		37	64	37	64	---	---	---	---
MAML2	84441	broad.mit.edu	37	11	95712801	95712801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:95712801C>A	ENST00000524717.1	-	5	4066	c.2782G>T	c.(2782-2784)Gga>Tga	p.G928*		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	928					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.G928*(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCAACAGATCCAGCTCCAAAA	0.413			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	uc001pfw.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	MECT1|CRTC3		salivary gland mucoepidermoid	CRTC1/MAML2(516)|CRTC3/MAML2(26)	1	Substitution - Nonsense(1)		lung(1)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546						c.(2782-2784)GGA>TGA		mastermind-like 2							215.0	190.0	198.0					11																	95712801		1951	4161	6112	SO:0001587	stop_gained	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95712801C>A	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2782G>T	11.37:g.95712801C>A	ENSP00000434552:p.Gly928*						p.G928*	NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN			5	4067	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	928					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Nonsense_Mutation	SNP	ENST00000524717.1	37	c.2782G>T	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	C	49	15.375370	0.99831	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	.	.	.	5.3	4.39	0.52855	.	0.373466	0.24695	N	0.036354	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-1.0384	13.9856	0.64334	0.0:0.9267:0.0:0.0733	.	.	.	.	X	928	.	ENSP00000412394:G928X	G	-	1	0	MAML2	95352449	0.072000	0.21174	0.970000	0.41538	0.908000	0.53690	2.066000	0.41452	1.372000	0.46190	0.561000	0.74099	GGA		PASS	0.413	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			46	112	46	112	---	---	---	---
CWF19L2	143884	broad.mit.edu	37	11	107300080	107300080	+	Nonsense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:107300080G>C	ENST00000282251.5	-	8	905	c.878C>G	c.(877-879)tCa>tGa	p.S293*	CWF19L2_ENST00000433523.1_Nonsense_Mutation_p.S293*	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	293							catalytic activity (GO:0003824)	p.S293*(1)|p.S139*(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TGCTTTATCTGAATATGTGGG	0.348																																						uc010rvp.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(877-879)TCA>TGA		CWF19-like 2, cell cycle control							72.0	67.0	69.0					11																	107300080		2201	4291	6492	SO:0001587	stop_gained	143884						catalytic activity	g.chr11:107300080G>C	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.878C>G	11.37:g.107300080G>C	ENSP00000282251:p.Ser293*					CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	p.S293*	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	8	908	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	293					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Nonsense_Mutation	SNP	ENST00000282251.5	37	c.878C>G	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768648	0.90020	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	.	.	.	5.38	2.23	0.28157	.	0.493179	0.20600	N	0.089176	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-3.6811	4.9068	0.13802	0.0805:0.1479:0.6185:0.153	.	.	.	.	X	293	.	ENSP00000282251:S293X	S	-	2	0	CWF19L2	106805290	1.000000	0.71417	0.376000	0.26042	0.968000	0.65278	2.755000	0.47540	0.720000	0.32209	0.591000	0.81541	TCA		PASS	0.348	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		7	23	7	23	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117375666	117375666	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:117375666G>T	ENST00000321322.6	-	10	2336	c.2335C>A	c.(2335-2337)Ccc>Acc	p.P779T	DSCAML1_ENST00000527706.1_Missense_Mutation_p.P509T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	719	Ig-like C2-type 8.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.P779T(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATGACCTTGGGTGGGGGGTAG	0.592																																						uc001prh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(2335-2337)CCC>ACC		Down syndrome cell adhesion molecule like 1							73.0	66.0	68.0					11																	117375666		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117375666G>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2335C>A	11.37:g.117375666G>T	ENSP00000315465:p.Pro779Thr						p.P779T	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	10	2337	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	719			Extracellular (Potential).|Ig-like C2-type 8.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.2335C>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259268	0.80246	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.73258	-0.73;-0.73	4.31	4.31	0.51392	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88459	0.6442	H	0.95470	3.675	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.92346	0.5885	9	0.87932	D	0	.	16.5735	0.84631	0.0:0.0:1.0:0.0	.	719	Q8TD84	DSCL1_HUMAN	T	509;779;486	ENSP00000434335:P509T;ENSP00000315465:P779T	ENSP00000315465:P779T	P	-	1	0	DSCAML1	116880876	1.000000	0.71417	0.934000	0.37439	0.874000	0.50279	9.535000	0.98064	2.217000	0.71921	0.305000	0.20034	CCC		PASS	0.592	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		27	52	27	52	---	---	---	---
OR10S1	219873	broad.mit.edu	37	11	123848389	123848389	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:123848389G>A	ENST00000531945.1	-	1	99	c.10C>T	c.(10-12)Cgc>Tgc	p.R4C		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R4C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CACACAGAGCGGCTAGTCATC	0.473																																						uc001pzm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(10-12)CGC>TGC		olfactory receptor, family 10, subfamily S,							91.0	91.0	91.0					11																	123848389		2197	4291	6488	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123848389G>A	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.10C>T	11.37:g.123848389G>A	ENSP00000431914:p.Arg4Cys						p.R4C	NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	10	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	4			Extracellular (Potential).		B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.10C>T	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	G	7.883	0.730710	0.15507	.	.	ENSG00000196248	ENST00000531945	T	0.00069	8.77	3.23	-2.48	0.06423	.	.	.	.	.	T	0.00073	0.0002	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.01998	-1.1232	9	0.36615	T	0.2	.	4.1168	0.10086	0.5012:0.1902:0.3085:0.0	.	4	Q8NGN2	O10S1_HUMAN	C	4	ENSP00000431914:R4C	ENSP00000431914:R4C	R	-	1	0	OR10S1	123353599	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.038000	0.12144	-0.388000	0.07797	-0.573000	0.04149	CGC		PASS	0.473	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		55	124	55	124	---	---	---	---
OR8B12	219858	broad.mit.edu	37	11	124413240	124413240	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:124413240C>A	ENST00000306842.2	-	1	335	c.311G>T	c.(310-312)tGc>tTc	p.C104F		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C104F(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GACAAAGAAGCAGAAGAAGAA	0.473																																						uc010sam.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(310-312)TGC>TTC		olfactory receptor, family 8, subfamily B,							90.0	82.0	85.0					11																	124413240		2201	4299	6500	SO:0001583	missense	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124413240C>A		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.311G>T	11.37:g.124413240C>A	ENSP00000307159:p.Cys104Phe						p.C104F	NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	311	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	104			Helical; Name=3; (Potential).		B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	c.311G>T	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380283	0.42207	.	.	ENSG00000170953	ENST00000306842	T	0.00623	6.15	3.89	2.97	0.34412	GPCR, rhodopsin-like superfamily (1);	0.210034	0.34291	N	0.004100	T	0.00967	0.0032	N	0.17312	0.475	0.34118	D	0.663817	P	0.45428	0.858	P	0.52710	0.707	T	0.67703	-0.5602	10	0.66056	D	0.02	.	11.0826	0.48068	0.3303:0.6696:0.0:0.0	.	104	Q8NGG6	OR8BC_HUMAN	F	104	ENSP00000307159:C104F	ENSP00000307159:C104F	C	-	2	0	OR8B12	123918450	0.000000	0.05858	1.000000	0.80357	0.694000	0.40290	-1.337000	0.02657	1.199000	0.43173	0.650000	0.86243	TGC		PASS	0.473	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			20	60	20	60	---	---	---	---
ROBO4	54538	broad.mit.edu	37	11	124765505	124765505	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:124765505G>A	ENST00000306534.3	-	6	1369	c.884C>T	c.(883-885)gCt>gTt	p.A295V	ROBO4_ENST00000533054.1_Missense_Mutation_p.A150V|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	295	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A295V(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TGCCCACGGAGCTCCCTGGCC	0.647																																						uc001qbg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(883-885)GCT>GTT		roundabout homolog 4, magic roundabout							34.0	42.0	40.0					11																	124765505		2188	4273	6461	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124765505G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.884C>T	11.37:g.124765505G>A	ENSP00000304945:p.Ala295Val					ROBO4_uc010sas.1_Missense_Mutation_p.A150V|ROBO4_uc001qbh.2_Missense_Mutation_p.A185V|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank	p.A295V	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	6	1024	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	295			Fibronectin type-III 1.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.884C>T	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131388	0.56828	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.64618	-0.11;0.27	4.72	1.61	0.23674	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.649808	0.12825	N	0.436073	T	0.60971	0.2310	L	0.41236	1.265	0.09310	N	0.999999	D;D	0.57257	0.971;0.979	P;P	0.55749	0.783;0.628	T	0.48790	-0.9004	10	0.33141	T	0.24	.	7.6529	0.28358	0.088:0.3113:0.6007:0.0	.	185;295	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	V	295;185;150	ENSP00000304945:A295V;ENSP00000437129:A150V	ENSP00000304945:A295V	A	-	2	0	ROBO4	124270715	0.122000	0.22280	0.604000	0.28916	0.563000	0.35712	0.789000	0.26886	0.583000	0.29574	0.561000	0.74099	GCT		PASS	0.647	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		18	94	18	94	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134055385	134055385	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr11:134055385C>A	ENST00000534548.2	-	17	2146	c.2082G>T	c.(2080-2082)aaG>aaT	p.K694N	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	694					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.K694N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ATTTTTCTTTCTTGGACCAGA	0.378																																						uc001qhd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5						c.(2080-2082)AAG>AAT		non-SMC condensin II complex, subunit D3							100.0	100.0	100.0					11																	134055385		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134055385C>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2082G>T	11.37:g.134055385C>A	ENSP00000433681:p.Lys694Asn					NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	p.K694N	NM_015261	NP_056076	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	17	2688	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	694					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.2082G>T	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.820538	0.32145	.	.	ENSG00000151503	ENST00000534548	T	0.66099	-0.19	5.94	2.06	0.26882	Armadillo-type fold (1);	0.263263	0.42548	D	0.000685	T	0.55847	0.1946	M	0.64997	1.995	0.80722	D	1	P	0.44281	0.831	B	0.40101	0.319	T	0.53913	-0.8371	10	0.54805	T	0.06	-10.4351	9.3494	0.38129	0.0:0.6704:0.0:0.3296	.	694	P42695	CNDD3_HUMAN	N	694	ENSP00000433681:K694N	ENSP00000431612:K694N	K	-	3	2	NCAPD3	133560595	0.997000	0.39634	0.991000	0.47740	0.314000	0.28054	0.554000	0.23407	0.138000	0.18790	0.650000	0.86243	AAG		PASS	0.378	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		32	71	32	71	---	---	---	---
B4GALNT3	283358	broad.mit.edu	37	12	657444	657444	+	Silent	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr12:657444C>A	ENST00000266383.5	+	9	847	c.834C>A	c.(832-834)ctC>ctA	p.L278L	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	278					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.L278L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TTGACTCCCTCTCCCTGTCCC	0.607																																						uc001qii.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(832-834)CTC>CTA		beta							135.0	100.0	112.0					12																	657444		2203	4300	6503	SO:0001819	synonymous_variant	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:657444C>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.834C>A	12.37:g.657444C>A						B4GALNT3_uc001qij.1_Silent_p.L180L	p.L278L	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		9	834	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		278			Lumenal (Potential).		Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.834C>A	CCDS8504.1																																																																																				PASS	0.607	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		4	66	4	66	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7647890	7647890	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr12:7647890C>A	ENST00000359156.4	-	6	1409	c.1207G>T	c.(1207-1209)Gga>Tga	p.G403*	CD163_ENST00000396620.3_Nonsense_Mutation_p.G403*|CD163_ENST00000541972.1_Nonsense_Mutation_p.G391*|CD163_ENST00000432237.2_Nonsense_Mutation_p.G403*	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	403	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.G403*(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TCTTTCAGTCCCCAGCCTCTG	0.502																																						uc001qsz.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(1207-1209)GGA>TGA		CD163 antigen isoform a							154.0	133.0	141.0					12																	7647890		2203	4300	6503	SO:0001587	stop_gained	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7647890C>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1207G>T	12.37:g.7647890C>A	ENSP00000352071:p.Gly403*					CD163_uc001qta.3_Nonsense_Mutation_p.G403*|CD163_uc009zfw.2_Nonsense_Mutation_p.G403*	p.G403*	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			6	1335	-			403			SRCR 4.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Nonsense_Mutation	SNP	ENST00000359156.4	37	c.1207G>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	36	5.906960	0.97093	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	.	.	.	5.01	0.58	0.17402	.	1.363190	0.04646	N	0.406136	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	3.9425	0.09333	0.1664:0.4726:0.0:0.361	.	.	.	.	X	403;391;403;403	.	ENSP00000352071:G403X	G	-	1	0	CD163	7539157	0.641000	0.27251	0.181000	0.23098	0.968000	0.65278	1.238000	0.32707	0.222000	0.20900	-0.142000	0.14014	GGA		PASS	0.502	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		50	115	50	115	---	---	---	---
APOBEC1	339	broad.mit.edu	37	12	7803669	7803669	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr12:7803669G>T	ENST00000229304.4	-	4	531	c.511C>A	c.(511-513)Cca>Aca	p.P171T		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	171					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.P171T(1)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CACAGAGGTGGGTATTGTGGC	0.438																																					Pancreas(135;929 1826 4531 10527 41012)	uc001qtb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(511-513)CCA>ACA		apolipoprotein B mRNA editing enzyme							146.0	131.0	136.0					12																	7803669		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.chr12:7803669G>T	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.511C>A	12.37:g.7803669G>T	ENSP00000229304:p.Pro171Thr					APOBEC1_uc001qtc.2_Missense_Mutation_p.P126T|APOBEC1_uc010sgf.1_Missense_Mutation_p.P171T	p.P171T	NM_001644	NP_001635	P41238	ABEC1_HUMAN			4	545	-			171					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.511C>A	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	G	8.120	0.780781	0.16120	.	.	ENSG00000111701	ENST00000229304	T	0.62498	0.02	4.9	0.746	0.18365	APOBEC-like, C-terminal (1);	0.433786	0.19647	N	0.109304	T	0.60676	0.2287	M	0.75447	2.3	0.09310	N	1	P	0.43578	0.811	P	0.46419	0.516	T	0.55029	-0.8204	10	0.56958	D	0.05	-11.9384	3.1573	0.06509	0.0877:0.1524:0.446:0.3139	.	171	P41238	ABEC1_HUMAN	T	171	ENSP00000229304:P171T	ENSP00000229304:P171T	P	-	1	0	APOBEC1	7694936	0.012000	0.17670	0.000000	0.03702	0.000000	0.00434	0.742000	0.26216	-0.068000	0.12953	-0.175000	0.13238	CCA		PASS	0.438	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		7	157	7	157	---	---	---	---
TAS2R10	50839	broad.mit.edu	37	12	10978480	10978480	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr12:10978480G>A	ENST00000240619.2	-	1	477	c.389C>T	c.(388-390)cCc>cTc	p.P130L		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	130					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.P130L(1)		breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TATCATGAAGGGAAGAACCAT	0.348																																						uc001qyy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(388-390)CCC>CTC		taste receptor, type 2, member 10							55.0	59.0	58.0					12																	10978480		2203	4297	6500	SO:0001583	missense	50839				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10978480G>A	AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.389C>T	12.37:g.10978480G>A	ENSP00000240619:p.Pro130Leu						p.P130L	NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN			1	389	-			130			Helical; Name=4; (Potential).		Q3MIM9|Q6NTD9	Missense_Mutation	SNP	ENST00000240619.2	37	c.389C>T	CCDS8634.1	.	.	.	.	.	.	.	.	.	.	G	1.394	-0.580087	0.03854	.	.	ENSG00000121318	ENST00000240619	T	0.31510	1.49	4.67	0.138	0.14793	.	1.322110	0.05880	N	0.626346	T	0.09468	0.0233	N	0.02674	-0.535	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.28106	-1.0054	10	0.06757	T	0.87	.	1.5339	0.02541	0.2971:0.1385:0.4236:0.1408	.	130	Q9NYW0	T2R10_HUMAN	L	130	ENSP00000240619:P130L	ENSP00000240619:P130L	P	-	2	0	TAS2R10	10869747	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.174000	0.09839	0.102000	0.17638	0.591000	0.81541	CCC		PASS	0.348	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1			16	103	16	103	---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21327635	21327635	+	Silent	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr12:21327635C>T	ENST00000256958.2	+	4	447	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	117					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.F117F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	CACATTTCTTCATGGGATAGT	0.338																																						uc001req.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(349-351)TTC>TTT		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						139.0	128.0	132.0					12																	21327635		2203	4300	6503	SO:0001819	synonymous_variant	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21327635C>T		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.351C>T	12.37:g.21327635C>T							p.F117F	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			4	455	+			117			Helical; Name=3; (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP	ENST00000256958.2	37	c.351C>T	CCDS8685.1																																																																																				PASS	0.338	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		22	60	22	60	---	---	---	---
ARNTL2	56938	broad.mit.edu	37	12	27573381	27573381	+	Silent	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr12:27573381C>G	ENST00000266503.5	+	17	1845	c.1827C>G	c.(1825-1827)gcC>gcG	p.A609A	ARNTL2_ENST00000261178.5_Silent_p.A561A|ARNTL2_ENST00000395901.2_Silent_p.A572A|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000542388.1_Silent_p.A524A|ARNTL2_ENST00000311001.5_Silent_p.A595A|ARNTL2_ENST00000544915.1_Silent_p.A575A|ARNTL2_ENST00000546179.1_Missense_Mutation_p.P536R			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	609					circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.A609A(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					ATGACACAGCCATGGCTGCAT	0.453																																						uc001rht.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1825-1827)GCC>GCG		aryl hydrocarbon receptor nuclear							107.0	106.0	106.0					12																	27573381		2203	4300	6503	SO:0001819	synonymous_variant	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27573381C>G	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.1827C>G	12.37:g.27573381C>G						ARNTL2_uc001rhw.2_Silent_p.A572A|ARNTL2_uc010sjp.1_Missense_Mutation_p.P536R|ARNTL2_uc001rhu.1_Silent_p.A595A|ARNTL2_uc009zji.1_Silent_p.A575A|ARNTL2_uc001rhv.1_Silent_p.A561A|uc001rhx.2_Intron	p.A609A	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN			17	1845	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		609					B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Silent	SNP	ENST00000266503.5	37	c.1827C>G	CCDS8712.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568506	0.28003	.	.	ENSG00000029153	ENST00000546179;ENST00000457040	T	0.07327	3.2	3.63	-0.442	0.12253	.	.	.	.	.	T	0.04543	0.0124	.	.	.	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.43015	-0.9417	7	.	.	.	.	4.8977	0.13759	0.0:0.4542:0.2863:0.2595	.	536	F5H402	.	R	536;561	ENSP00000438545:P536R	.	P	+	2	0	ARNTL2	27464648	0.981000	0.34729	0.846000	0.33378	0.969000	0.65631	-0.005000	0.12855	-0.215000	0.10063	-1.087000	0.02190	CCA		PASS	0.453	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		57	99	57	99	---	---	---	---
PDZRN4	29951	broad.mit.edu	37	12	41966568	41966568	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr12:41966568G>C	ENST00000402685.2	+	10	1995	c.1987G>C	c.(1987-1989)Gag>Cag	p.E663Q	PDZRN4_ENST00000539469.2_Missense_Mutation_p.E405Q|PDZRN4_ENST00000298919.7_Missense_Mutation_p.E403Q	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	663							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E405K(1)|p.E405Q(1)|p.E663Q(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGAGGGAGTGGAGCATGAGCT	0.448																																						uc010skn.1																			3	Substitution - Missense(3)		lung(2)|breast(1)	lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(1390-1392)GAG>CAG		PDZ domain containing RING finger 4 isoform 2							124.0	110.0	114.0					12																	41966568		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966568G>C	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1987G>C	12.37:g.41966568G>C	ENSP00000384197:p.Glu663Gln					PDZRN4_uc001rmq.3_Missense_Mutation_p.E405Q|PDZRN4_uc009zjz.2_Missense_Mutation_p.E403Q|PDZRN4_uc001rmr.2_Missense_Mutation_p.E290Q	p.E464Q	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	1458	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	663			Potential.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1390G>C	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458200	0.26161	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.72615	-0.67;3.8;3.8	4.49	4.49	0.54785	.	0.077103	0.53938	D	0.000058	T	0.62913	0.2467	L	0.41710	1.295	0.58432	D	0.999999	P;B;B	0.44044	0.825;0.22;0.086	B;B;B	0.38712	0.28;0.099;0.142	T	0.64993	-0.6276	10	0.33940	T	0.23	-25.6191	18.0664	0.89392	0.0:0.0:1.0:0.0	.	663;403;405	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	Q	663;405;403	ENSP00000384197:E663Q;ENSP00000439990:E405Q;ENSP00000298919:E403Q	ENSP00000298919:E403Q	E	+	1	0	PDZRN4	40252835	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	6.364000	0.73086	2.455000	0.83008	0.650000	0.86243	GAG		PASS	0.448	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		13	35	13	35	---	---	---	---
CSAD	51380	broad.mit.edu	37	12	53553951	53553951	+	Silent	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr12:53553951G>A	ENST00000444623.1	-	14	1386	c.1119C>T	c.(1117-1119)ggC>ggT	p.G373G	CSAD_ENST00000379843.3_Silent_p.G226G|RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000453446.2_Silent_p.G373G|CSAD_ENST00000267085.4_Silent_p.G400G|CSAD_ENST00000379846.1_Silent_p.G226G	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	373					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)	p.G400G(1)|p.G373G(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	GCCCTTGATCGCCCTGTGCCT	0.637																																					Ovarian(109;252 1546 16882 28524 44645)	uc001sby.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1117-1119)GGC>GGT		cysteine sulfinic acid decarboxylase	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						108.0	94.0	99.0					12																	53553951		2203	4300	6503	SO:0001819	synonymous_variant	51380	Hereditary_Prostate_Cancer			carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	g.chr12:53553951G>A	AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.1119C>T	12.37:g.53553951G>A						CSAD_uc001sbw.2_Silent_p.G226G|CSAD_uc009zmt.2_Silent_p.G155G|CSAD_uc010snx.1_Silent_p.G400G|CSAD_uc001sbz.2_Silent_p.G373G|CSAD_uc009zmu.2_Silent_p.G226G|CSAD_uc001sca.3_RNA	p.G373G	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN			13	1245	-			373					A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Silent	SNP	ENST00000444623.1	37	c.1119C>T	CCDS58235.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002525	0.35320	.	.	ENSG00000139631	ENST00000379850	.	.	.	4.67	-0.854	0.10705	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.8968	5.1836	0.15173	0.4414:0.2719:0.2867:0.0	.	.	.	.	X	399	.	.	R	-	1	2	CSAD	51840218	0.063000	0.20901	0.914000	0.36105	0.824000	0.46624	-0.144000	0.10280	-0.252000	0.09528	0.655000	0.94253	CGA		PASS	0.637	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989		10	43	10	43	---	---	---	---
IKZF4	64375	broad.mit.edu	37	12	56420643	56420643	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr12:56420643A>G	ENST00000262032.5	+	8	732	c.365A>G	c.(364-366)aAg>aGg	p.K122R	IKZF4_ENST00000431367.2_Missense_Mutation_p.K20R|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Missense_Mutation_p.K77R|IKZF4_ENST00000547167.1_Missense_Mutation_p.K122R|IKZF4_ENST00000548601.1_3'UTR			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	122					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K81R(1)|p.K122R(1)		NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTCCTGGAAAAGGACGACAGC	0.592																																						uc001sjb.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(364-366)AAG>AGG		zinc finger protein, subfamily 1A, 4							51.0	56.0	54.0					12																	56420643		2113	4240	6353	SO:0001583	missense	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56420643A>G	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.365A>G	12.37:g.56420643A>G	ENSP00000262032:p.Lys122Arg					IKZF4_uc010sqa.1_Missense_Mutation_p.K75R|IKZF4_uc001sjc.1_Missense_Mutation_p.K122R|IKZF4_uc001sjd.1_Missense_Mutation_p.K20R|IKZF4_uc009zoi.1_Missense_Mutation_p.K77R|IKZF4_uc001sje.1_Missense_Mutation_p.K81R	p.K122R	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		5	524	+			122					Q96JP3	Missense_Mutation	SNP	ENST00000262032.5	37	c.365A>G	CCDS44917.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.773597	0.49786	.	.	ENSG00000123411	ENST00000262032;ENST00000431367;ENST00000547167;ENST00000547791	T;T;T;T	0.07327	3.27;3.2;3.27;3.25	5.08	5.08	0.68730	.	0.000000	0.51477	D	0.000092	T	0.06554	0.0168	L	0.29908	0.895	0.48185	D	0.9996	B;P;B;P	0.42827	0.005;0.764;0.002;0.791	B;B;B;B	0.33960	0.006;0.173;0.008;0.145	T	0.38394	-0.9663	10	0.40728	T	0.16	-15.2224	13.9618	0.64185	1.0:0.0:0.0:0.0	.	20;77;81;122	G5E9S4;F8VPL6;Q9H2S9-2;Q9H2S9	.;.;.;IKZF4_HUMAN	R	122;20;122;77	ENSP00000262032:K122R;ENSP00000412101:K20R;ENSP00000448419:K122R;ENSP00000450020:K77R	ENSP00000262032:K122R	K	+	2	0	IKZF4	54706910	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.324000	0.79115	2.128000	0.65567	0.459000	0.35465	AAG		PASS	0.592	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		24	21	24	21	---	---	---	---
CS	1431	broad.mit.edu	37	12	56667527	56667527	+	Silent	SNP	G	G	T	rs201683368		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr12:56667527G>T	ENST00000351328.3	-	10	1264	c.1074C>A	c.(1072-1074)acC>acA	p.T358T	CS_ENST00000542324.2_Silent_p.T345T|CS_ENST00000548567.1_Silent_p.T292T	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	358					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)	p.T358T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CTCGCTGACAGGTATATCGCG	0.443																																						uc001sks.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1072-1074)ACC>ACA		citrate synthase precursor							124.0	113.0	117.0					12																	56667527		2203	4300	6503	SO:0001819	synonymous_variant	1431				cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity	g.chr12:56667527G>T		CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.1074C>A	12.37:g.56667527G>T						CS_uc010sql.1_Silent_p.T345T|CS_uc001skr.1_Silent_p.T292T|CS_uc001skt.1_Silent_p.T313T|CS_uc010sqm.1_3'UTR	p.T358T	NM_004077	NP_004068	O75390	CISY_HUMAN		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)	10	1264	-		Myeloproliferative disorder(1001;0.000374)	358					Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Silent	SNP	ENST00000351328.3	37	c.1074C>A	CCDS8913.1																																																																																				PASS	0.443	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		23	128	23	128	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57971825	57971825	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr12:57971825A>G	ENST00000455537.2	+	22	2669	c.2395A>G	c.(2395-2397)Aag>Gag	p.K799E	KIF5A_ENST00000286452.5_Missense_Mutation_p.K710E	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	799					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.K799E(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CAACCTTCGCAAGCTGTTCGT	0.498																																						uc001sor.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2395-2397)AAG>GAG		kinesin family member 5A							105.0	95.0	98.0					12																	57971825		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57971825A>G	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2395A>G	12.37:g.57971825A>G	ENSP00000408979:p.Lys799Glu					KIF5A_uc010srr.1_Missense_Mutation_p.K710E	p.K799E	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			22	2603	+			799					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.2395A>G	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.924946	0.92319	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.86865	-2.18;-2.18	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.92906	0.7743	M	0.82923	2.615	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70227	0.968;0.957	D	0.92584	0.6077	10	0.39692	T	0.17	.	13.8064	0.63236	1.0:0.0:0.0:0.0	.	710;799	B7Z2M7;Q12840	.;KIF5A_HUMAN	E	799;710	ENSP00000408979:K799E;ENSP00000286452:K710E	ENSP00000286452:K710E	K	+	1	0	KIF5A	56258092	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.175000	0.77632	2.167000	0.68274	0.260000	0.18958	AAG		PASS	0.498	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		52	42	52	42	---	---	---	---
C12orf50	160419	broad.mit.edu	37	12	88388448	88388448	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr12:88388448C>G	ENST00000298699.2	-	7	734	c.554G>C	c.(553-555)gGg>gCg	p.G185A	C12orf50_ENST00000550553.1_Missense_Mutation_p.G185A	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	185								p.G185A(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTTTGGTTTCCCATGCAATGA	0.338																																						uc001tam.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(553-555)GGG>GCG		hypothetical protein LOC160419							177.0	159.0	165.0					12																	88388448		2202	4300	6502	SO:0001583	missense	160419							g.chr12:88388448C>G	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.554G>C	12.37:g.88388448C>G	ENSP00000298699:p.Gly185Ala					C12orf50_uc001tan.2_Missense_Mutation_p.G239A	p.G185A	NM_152589	NP_689802	Q8NA57	CL050_HUMAN			7	722	-			185					Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	c.554G>C	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	C	5.574	0.290660	0.10567	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.29917	1.55;1.56	5.01	5.01	0.66863	.	0.500637	0.20452	N	0.092062	T	0.27629	0.0679	L	0.47716	1.5	0.26795	N	0.969318	B;P	0.48503	0.167;0.911	B;B	0.41374	0.164;0.355	T	0.19063	-1.0317	10	0.13470	T	0.59	.	15.5852	0.76475	0.0:1.0:0.0:0.0	.	239;185	G3V208;Q8NA57	.;CL050_HUMAN	A	185;185;239	ENSP00000298699:G185A;ENSP00000448344:G185A	ENSP00000298699:G185A	G	-	2	0	C12orf50	86912579	0.996000	0.38824	1.000000	0.80357	0.439000	0.31926	1.849000	0.39318	2.486000	0.83907	0.650000	0.86243	GGG		PASS	0.338	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		12	62	12	62	---	---	---	---
EPYC	1833	broad.mit.edu	37	12	91366688	91366688	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr12:91366688G>T	ENST00000261172.3	-	4	502	c.410C>A	c.(409-411)gCt>gAt	p.A137D		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	137	LRRNT.				female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)	p.A137D(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						CGGAGGAATAGCATCAAGTTC	0.358																																						uc001tbk.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(409-411)GCT>GAT		dermatan sulfate proteoglycan 3 precursor							160.0	164.0	163.0					12																	91366688		2203	4300	6503	SO:0001583	missense	1833				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	g.chr12:91366688G>T	AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3053	protein-coding gene	gene with protein product	"""epiphycan proteoglycan"""	601657	"""dermatan sulphate proteoglycan 3"", ""dermatan sulfate proteoglycan 3"""	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.410C>A	12.37:g.91366688G>T	ENSP00000261172:p.Ala137Asp						p.A137D	NM_004950	NP_004941	Q99645	EPYC_HUMAN			4	503	-			137			LRRNT.		A8K3M7|Q8NEJ5	Missense_Mutation	SNP	ENST00000261172.3	37	c.410C>A	CCDS31870.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088065	0.55968	.	.	ENSG00000083782	ENST00000261172;ENST00000551767	D;D	0.96830	-4.14;-4.14	5.98	5.98	0.97165	Leucine-rich repeat-containing N-terminal (2);	0.202359	0.53938	N	0.000041	D	0.94768	0.8311	L	0.46741	1.465	0.46167	D	0.998901	B	0.23249	0.082	B	0.32090	0.14	D	0.91543	0.5251	10	0.11485	T	0.65	.	20.4434	0.99119	0.0:0.0:1.0:0.0	.	137	Q99645	EPYC_HUMAN	D	137	ENSP00000261172:A137D;ENSP00000448272:A137D	ENSP00000261172:A137D	A	-	2	0	EPYC	89890819	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	4.065000	0.57513	2.838000	0.97847	0.655000	0.94253	GCT		PASS	0.358	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407146.2	NM_004950		41	62	41	62	---	---	---	---
ACACB	32	broad.mit.edu	37	12	109702913	109702913	+	Splice_Site	SNP	A	A	G	rs113944047		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr12:109702913A>G	ENST00000338432.7	+	51	7061		c.e51-1		ACACB_ENST00000377854.5_Splice_Site|ACACB_ENST00000377848.3_Splice_Site|ACACB_ENST00000543201.1_Splice_Site			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta						acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.?(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GCTCGTCCACAGGACATCCTG	0.652																																						uc001tob.2																			1	Unknown(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.e51-2		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						70.0	70.0	70.0					12																	109702913		2201	4300	6501	SO:0001630	splice_region_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109702913A>G	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6943-1A>G	12.37:g.109702913A>G						ACACB_uc001toc.2_Splice_Site_p.D2315_splice|ACACB_uc001tod.2_Splice_Site|ACACB_uc010sxm.1_Splice_Site_p.D981_splice	p.D2315_splice	NM_001093	NP_001084	O00763	ACACB_HUMAN			51	7062	+								A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Splice_Site	SNP	ENST00000338432.7	37	c.6943_splice	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.099017	0.56183	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000537279	.	.	.	3.9	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4367	0.61088	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACACB	108187296	1.000000	0.71417	0.993000	0.49108	0.623000	0.37688	9.098000	0.94202	1.723000	0.51488	0.454000	0.30748	.		PASS	0.652	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	Intron	32	36	32	36	---	---	---	---
CUX2	23316	broad.mit.edu	37	12	111744770	111744770	+	Missense_Mutation	SNP	G	G	T	rs199624287	byFrequency	TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr12:111744770G>T	ENST00000261726.6	+	11	1058	c.904G>T	c.(904-906)Gcg>Tcg	p.A302S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	302					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.A302S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCTGGAGGCCGCGCTGGCCTC	0.637																																						uc001tsa.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|breast(1)	6						c.(904-906)GCG>TCG		cut-like 2							56.0	62.0	60.0					12																	111744770		1922	4122	6044	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111744770G>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.904G>T	12.37:g.111744770G>T	ENSP00000261726:p.Ala302Ser						p.A302S	NM_015267	NP_056082	O14529	CUX2_HUMAN			11	1057	+			302			Potential.		A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.904G>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.871164	0.51695	.	.	ENSG00000111249	ENST00000261726	T	0.43294	0.95	5.3	5.3	0.74995	.	0.167084	0.52532	D	0.000074	T	0.47229	0.1434	L	0.59436	1.845	0.39878	D	0.973609	D	0.53885	0.963	P	0.47206	0.541	T	0.41233	-0.9520	10	0.19590	T	0.45	-25.3289	18.5534	0.91073	0.0:0.0:1.0:0.0	.	302	O14529	CUX2_HUMAN	S	302	ENSP00000261726:A302S	ENSP00000261726:A302S	A	+	1	0	CUX2	110229153	0.998000	0.40836	0.567000	0.28434	0.805000	0.45488	4.485000	0.60279	2.483000	0.83821	0.643000	0.83706	GCG		PASS	0.637	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		24	76	24	76	---	---	---	---
NOS1	4842	broad.mit.edu	37	12	117658044	117658044	+	Silent	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr12:117658044G>A	ENST00000338101.4	-	27	4112	c.4108C>T	c.(4108-4110)Ctg>Ttg	p.L1370L	NOS1_ENST00000317775.6_Silent_p.L1336L|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.L1336L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GACTCCGCCAGCTGCTCCTGC	0.607																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)	7						c.(4006-4008)CTG>TTG		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						104.0	112.0	110.0					12																	117658044		2201	4300	6501	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117658044G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4108C>T	12.37:g.117658044G>A							p.L1336L	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	27	4692	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1336						Silent	SNP	ENST00000338101.4	37	c.4006C>T	CCDS55890.1																																																																																				PASS	0.607	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			58	57	58	57	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124848272	124848272	+	Silent	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr12:124848272G>A	ENST00000405201.1	-	21	2881	c.2881C>T	c.(2881-2883)Ctg>Ttg	p.L961L	NCOR2_ENST00000397355.1_Silent_p.L944L|NCOR2_ENST00000404621.1_Silent_p.L943L|NCOR2_ENST00000429285.2_Silent_p.L943L|NCOR2_ENST00000356219.3_Silent_p.L961L|NCOR2_ENST00000404121.2_Silent_p.L514L			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	961					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.L961L(2)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TTCAGGTCCAGTGGCTTCTGG	0.677																																						uc010tba.1																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(1)	4						c.(2881-2883)CTG>TTG		nuclear receptor co-repressor 2 isoform 2							48.0	67.0	61.0					12																	124848272		2020	4151	6171	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124848272G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2881C>T	12.37:g.124848272G>A						NCOR2_uc010tay.1_Silent_p.L961L|NCOR2_uc010taz.1_Silent_p.L944L|NCOR2_uc010tbb.1_Silent_p.L961L|NCOR2_uc010tbc.1_Silent_p.L943L|NCOR2_uc001ugj.1_Silent_p.L961L	p.L961L	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	21	2998	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		961					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.2881C>T	CCDS41858.2																																																																																				PASS	0.677	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		8	120	8	120	---	---	---	---
ATP12A	479	broad.mit.edu	37	13	25284996	25284996	+	Silent	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr13:25284996C>A	ENST00000381946.3	+	21	3131	c.2964C>A	c.(2962-2964)ctC>ctA	p.L988L	ATP12A_ENST00000218548.6_Silent_p.L994L			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	988					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.L988L(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CCTATGGCCTCGGAAGTGTCA	0.498																																					Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(2962-2964)CTC>CTA		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						164.0	138.0	147.0					13																	25284996		2203	4300	6503	SO:0001819	synonymous_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25284996C>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2964C>A	13.37:g.25284996C>A						ATP12A_uc010aaa.2_Silent_p.L994L	p.L988L	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	21	3151	+		Lung SC(185;0.0225)|Breast(139;0.077)	988			Lumenal (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	c.2964C>A	CCDS31948.1																																																																																				PASS	0.498	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		15	52	15	52	---	---	---	---
CSNK1A1L	122011	broad.mit.edu	37	13	37678878	37678878	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr13:37678878G>T	ENST00000379800.3	-	1	925	c.516C>A	c.(514-516)caC>caA	p.H172Q		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.H172Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TGTACGGTATGTGTTGCCTGG	0.453																																						uc001uwm.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(514-516)CAC>CAA		casein kinase 1, alpha 1-like							232.0	213.0	220.0					13																	37678878		2203	4300	6503	SO:0001583	missense	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37678878G>T	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.516C>A	13.37:g.37678878G>T	ENSP00000369126:p.His172Gln						p.H172Q	NM_145203	NP_660204	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	924	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	172			Protein kinase.		Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.516C>A	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441859	0.43326	.	.	ENSG00000180138	ENST00000379800	T	0.10288	2.89	1.04	0.112	0.14623	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.41719	0.1171	H	0.98426	4.23	0.42590	D	0.993249	D	0.89917	1.0	D	0.97110	1.0	T	0.31223	-0.9951	10	0.87932	D	0	.	5.0384	0.14447	0.2374:0.0:0.7626:0.0	.	172	Q8N752	KC1AL_HUMAN	Q	172	ENSP00000369126:H172Q	ENSP00000369126:H172Q	H	-	3	2	CSNK1A1L	36576878	1.000000	0.71417	0.936000	0.37596	0.783000	0.44284	3.811000	0.55620	0.011000	0.14865	0.556000	0.70494	CAC		PASS	0.453	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		24	96	24	96	---	---	---	---
AKAP11	11215	broad.mit.edu	37	13	42877103	42877104	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr13:42877103_42877104GG>TT	ENST00000025301.2	+	8	4396_4397	c.4221_4222GG>TT	c.(4219-4224)aaGGaa>aaTTaa	p.1407_1408KE>N*		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1407					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)	p.K1407N(1)|p.E1408*(1)|p.K1407_E1408>N*(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AAACAAACAAGGAACTGTTAAT	0.366																																						uc001uys.1																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex - compound substitution(1)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(4219-4221)AAG>AAT|c.(4222-4224)GAA>TAA		A-kinase anchor protein 11																																				SO:0001587	stop_gained	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42877103G>T|g.chr13:42877104G>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	Exception_encountered	13.37:g.42877103_42877104delinsTT	ENSP00000025301:p.K1407_E1408delinsN*						p.K1407N|p.E1408*	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	4396|4397	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1407|1408					O75124|Q9NUK7	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000025301.2	37	c.4221G>T|c.4222G>T	CCDS9383.1																																																																																				PASS	0.366	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		13|11	34|35	11	34	---	---	---	---
UTP14C	9724	broad.mit.edu	37	13	52604567	52604567	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr13:52604567C>T	ENST00000521776.2	+	2	2360	c.1627C>T	c.(1627-1629)Cgg>Tgg	p.R543W		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	543					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)		p.R543W(1)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CCCAAATAATCGGCCTGATGC	0.483																																						uc001vgb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|breast(1)	5						c.(1627-1629)CGG>TGG		UTP14, U3 small nucleolar ribonucleoprotein,							103.0	109.0	107.0					13																	52604567		2203	4300	6503	SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52604567C>T	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1627C>T	13.37:g.52604567C>T	ENSP00000428619:p.Arg543Trp					UTP14C_uc001vgc.2_RNA	p.R543W	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	2162	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	543					Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.1627C>T	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	C	9.609	1.130842	0.21041	.	.	ENSG00000253797	ENST00000521776	T	0.17691	2.26	2.59	1.73	0.24493	.	1.188910	0.05574	N	0.571545	T	0.05777	0.0151	N	0.01352	-0.895	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.37502	-0.9703	9	.	.	.	0.114	5.6104	0.17402	0.0:0.8342:0.0:0.1658	.	543	Q5TAP6	UT14C_HUMAN	W	543	ENSP00000428619:R543W	.	R	+	1	2	UTP14C	51502568	0.000000	0.05858	0.003000	0.11579	0.183000	0.23260	-1.781000	0.01774	0.431000	0.26258	-0.448000	0.05591	CGG		PASS	0.483	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		8	142	8	142	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70293558	70293558	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr13:70293558C>A	ENST00000377844.4	-	9	2717	c.1958G>T	c.(1957-1959)gGa>gTa	p.G653V	KLHL1_ENST00000545028.1_Missense_Mutation_p.G460V	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	653					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.G653V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATCATGACCTCCTACTGCATA	0.473																																						uc001vip.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1957-1959)GGA>GTA		kelch-like 1 protein							133.0	121.0	125.0					13																	70293558		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70293558C>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1958G>T	13.37:g.70293558C>A	ENSP00000367075:p.Gly653Val					KLHL1_uc010thm.1_Missense_Mutation_p.G592V	p.G653V	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	9	2752	-		Breast(118;0.000162)	653			Kelch 5.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1958G>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903797	0.92035	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	D;D	0.98792	-5.14;-5.14	5.68	5.68	0.88126	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000017	D	0.99548	0.9838	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97940	1.0325	10	0.87932	D	0	.	19.7878	0.96445	0.0:1.0:0.0:0.0	.	653;653	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	V	653;460	ENSP00000367075:G653V;ENSP00000439602:G460V	ENSP00000367075:G653V	G	-	2	0	KLHL1	69191559	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.818000	0.86416	2.670000	0.90874	0.561000	0.74099	GGA		PASS	0.473	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		19	76	19	76	---	---	---	---
KLF5	688	broad.mit.edu	37	13	73636112	73636112	+	Silent	SNP	T	T	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr13:73636112T>G	ENST00000377687.4	+	2	911	c.375T>G	c.(373-375)acT>acG	p.T125T	KLF5_ENST00000539231.1_Silent_p.T34T|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	125					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|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.T125T(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		AGTTCTTCACTGACACTGAAG	0.468																																						uc001vje.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|pancreas(1)	3						c.(373-375)ACT>ACG		Kruppel-like factor 5							202.0	182.0	189.0					13																	73636112		2203	4300	6503	SO:0001819	synonymous_variant	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636112T>G	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.375T>G	13.37:g.73636112T>G						KLF5_uc001vjd.2_Silent_p.T34T	p.T125T	NM_001730	NP_001721	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	699	+		Prostate(6;0.00187)|Breast(118;0.0735)	125					L0R3U5|L0R4T9|Q9UHP8	Silent	SNP	ENST00000377687.4	37	c.375T>G	CCDS9448.1																																																																																				PASS	0.468	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			40	158	40	158	---	---	---	---
GPR183	1880	broad.mit.edu	37	13	99948125	99948126	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr13:99948125_99948126GC>TT	ENST00000376414.4	-	2	357_358	c.274_275GC>AA	c.(274-276)GCa>AAa	p.A92K	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	92					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)	p.A92K(1)|p.A92T(1)|p.A92E(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						AAAGCCCATTGCATAGTAGGCT	0.411																																						uc001vog.2																			3	Substitution - Missense(3)		lung(3)		0						c.(274-276)GCA>GAA|c.(274-276)GCA>ACA		EBV-induced G protein-coupled receptor 2																																				SO:0001583	missense	1880				humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99948125G>T|g.chr13:99948126C>T	L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"""GPCR / Class A : Orphans"""	3128	protein-coding gene	gene with protein product	"""EBV-induced G-protein coupled receptor 2"""	605741	"""Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"""	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.274_275delinsTT	13.37:g.99948125_99948126delinsTT	ENSP00000365596:p.Ala92Lys					UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron	p.A92E|p.A92T	NM_004951	NP_004942	P32249	GP183_HUMAN			2	449|448	-			92			Helical; Name=2; (Potential).		B2R8N5|Q53F99|Q5JUH7	Missense_Mutation	SNP	ENST00000376414.4	37	c.275C>A|c.274G>A	CCDS9492.1																																																																																				PASS	0.411	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	NM_004951		14|13	59	13	59	---	---	---	---
ITGBL1	9358	broad.mit.edu	37	13	102250553	102250553	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr13:102250553G>T	ENST00000376180.3	+	7	1138	c.919G>T	c.(919-921)Ggg>Tgg	p.G307W	ITGBL1_ENST00000545560.2_Missense_Mutation_p.G166W|ITGBL1_ENST00000376162.3_Missense_Mutation_p.G214W	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	307	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)		p.G307W(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGGCTGGTATGGGAAGAAGTG	0.493																																						uc001vpb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(919-921)GGG>TGG		integrin, beta-like 1 (with EGF-like repeat							153.0	127.0	136.0					13																	102250553		2203	4300	6503	SO:0001583	missense	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102250553G>T	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.919G>T	13.37:g.102250553G>T	ENSP00000365351:p.Gly307Trp					ITGBL1_uc010agb.2_Missense_Mutation_p.G258W|ITGBL1_uc001vpc.3_Missense_Mutation_p.G166W	p.G307W	NM_004791	NP_004782	O95965	ITGBL_HUMAN			7	1138	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		307			VI.|Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	c.919G>T	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061905	0.76187	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.85411	-1.98;-1.98;-1.98	5.42	5.42	0.78866	EGF, extracellular (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.94489	0.8226	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95466	0.8547	10	0.87932	D	0	.	19.2134	0.93766	0.0:0.0:1.0:0.0	.	166;307	B3KTP1;O95965	.;ITGBL_HUMAN	W	307;215;166;166;214	ENSP00000365351:G307W;ENSP00000439903:G166W;ENSP00000365332:G214W	ENSP00000365332:G214W	G	+	1	0	ITGBL1	101048554	1.000000	0.71417	0.903000	0.35520	0.595000	0.36748	9.357000	0.97099	2.528000	0.85240	0.655000	0.94253	GGG		PASS	0.493	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		18	37	18	37	---	---	---	---
LIG4	3981	broad.mit.edu	37	13	108863160	108863160	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr13:108863160C>A	ENST00000356922.4	-	2	729	c.457G>T	c.(457-459)Gac>Tac	p.D153Y	LIG4_ENST00000442234.1_Missense_Mutation_p.D153Y|LIG4_ENST00000405925.1_Missense_Mutation_p.D153Y	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	153					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.D153Y(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GCAATTGAGTCTAAAAGGTCG	0.368								Non-homologous end-joining																														uc001vqn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(457-459)GAC>TAC	NHEJ	DNA ligase IV							102.0	105.0	104.0					13																	108863160		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108863160C>A	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.457G>T	13.37:g.108863160C>A	ENSP00000349393:p.Asp153Tyr					LIG4_uc001vqo.2_Missense_Mutation_p.D153Y|LIG4_uc010agg.1_Missense_Mutation_p.D86Y|LIG4_uc010agf.2_Missense_Mutation_p.D153Y|LIG4_uc001vqp.2_Missense_Mutation_p.D153Y	p.D153Y	NM_002312	NP_002303	P49917	DNLI4_HUMAN			2	730	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		153					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.457G>T	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741755	0.69304	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.21031	2.03;2.03;2.03	5.69	5.69	0.88448	DNA ligase, ATP-dependent, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.57858	0.2082	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66752	-0.5844	10	0.87932	D	0	.	18.7953	0.91991	0.0:1.0:0.0:0.0	.	153	P49917	DNLI4_HUMAN	Y	153	ENSP00000385955:D153Y;ENSP00000402030:D153Y;ENSP00000349393:D153Y	ENSP00000349393:D153Y	D	-	1	0	LIG4	107661161	1.000000	0.71417	0.988000	0.46212	0.958000	0.62258	5.715000	0.68430	2.689000	0.91719	0.643000	0.83706	GAC		PASS	0.368	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		17	106	17	106	---	---	---	---
TNFSF13B	10673	broad.mit.edu	37	13	108955864	108955864	+	Silent	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr13:108955864C>G	ENST00000375887.4	+	5	835	c.657C>G	c.(655-657)gtC>gtG	p.V219V	TNFSF13B_ENST00000479435.1_3'UTR|TNFSF13B_ENST00000430559.1_Silent_p.V200V|RNA5SP39_ENST00000411245.1_RNA	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	219					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|cell proliferation (GO:0008283)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.V219V(1)		large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		Belimumab(DB08879)	AGGTCCATGTCTTTGGGGATG	0.368																																						uc001vqr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(655-657)GTC>GTG		tumor necrosis factor superfamily, member 13b							159.0	143.0	148.0					13																	108955864		2203	4300	6503	SO:0001819	synonymous_variant	10673				cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding	g.chr13:108955864C>G	AF136293	CCDS9509.1, CCDS45067.1	13q32-q34	2008-05-14			ENSG00000102524	ENSG00000102524		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11929	protein-coding gene	gene with protein product		603969		TNFSF20		10331498, 10359578	Standard	NM_006573		Approved	BAFF, THANK, BLYS, TALL-1, TALL1, CD257	uc001vqr.3	Q9Y275	OTTHUMG00000017329	ENST00000375887.4:c.657C>G	13.37:g.108955864C>G						TNFSF13B_uc010agj.2_Silent_p.V200V	p.V219V	NM_006573	NP_006564	Q9Y275	TN13B_HUMAN	all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		5	924	+	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		219			Extracellular (Potential).		E0ADT7|Q6FHD6|Q7Z5J2	Silent	SNP	ENST00000375887.4	37	c.657C>G	CCDS9509.1																																																																																				PASS	0.368	TNFSF13B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045739.3			33	68	33	68	---	---	---	---
COL4A2	1284	broad.mit.edu	37	13	111114723	111114723	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr13:111114723G>T	ENST00000360467.5	+	24	2074	c.1768G>T	c.(1768-1770)Ggc>Tgc	p.G590C	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	590	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.G590C(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CGGCCTCCCAGGCCCTCCCGT	0.622																																						uc001vqx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|central_nervous_system(2)|ovary(1)	6						c.(1768-1770)GGC>TGC		alpha 2 type IV collagen preproprotein							18.0	25.0	23.0					13																	111114723		1985	4163	6148	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111114723G>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1768G>T	13.37:g.111114723G>T	ENSP00000353654:p.Gly590Cys						p.G590C	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		24	2057	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	590			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.1768G>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117480	0.37339	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.97976	-4.64	5.48	5.48	0.80851	.	0.000000	0.56097	D	0.000026	D	0.98994	0.9657	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99601	1.0978	10	0.66056	D	0.02	.	17.9347	0.89009	0.0:0.0:1.0:0.0	.	590	P08572	CO4A2_HUMAN	C	590	ENSP00000353654:G590C	ENSP00000257309:G590C	G	+	1	0	COL4A2	109912724	1.000000	0.71417	0.132000	0.22025	0.237000	0.25408	5.745000	0.68672	2.576000	0.86940	0.655000	0.94253	GGC		PASS	0.622	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		8	35	8	35	---	---	---	---
F10	2159	broad.mit.edu	37	13	113803481	113803481	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr13:113803481C>A	ENST00000375559.3	+	8	1155	c.1117C>A	c.(1117-1119)Cag>Aag	p.Q373K	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	373	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)	p.Q373K(1)		endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	GAAGGGCCGGCAGTCCACCAG	0.642																																						uc001vsx.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1117-1119)CAG>AAG		coagulation factor X preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						38.0	38.0	38.0					13																	113803481		2202	4300	6502	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803481C>A		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1117C>A	13.37:g.113803481C>A	ENSP00000364709:p.Gln373Lys					F10_uc001vsy.2_3'UTR|F10_uc001vsz.2_3'UTR	p.Q373K	NM_000504	NP_000495	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		8	1174	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	373			Peptidase S1.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.1117C>A	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.290965	0.00248	.	.	ENSG00000126218	ENST00000375559	D	0.88046	-2.33	5.37	0.165	0.14995	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.593632	0.17818	N	0.160963	T	0.66752	0.2821	N	0.11651	0.15	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.53739	-0.8396	10	0.05620	T	0.96	.	6.2117	0.20633	0.2729:0.4881:0.1748:0.0642	.	373	P00742	FA10_HUMAN	K	373	ENSP00000364709:Q373K	ENSP00000364709:Q373K	Q	+	1	0	F10	112851482	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-1.253000	0.02877	0.214000	0.20742	-0.142000	0.14014	CAG		PASS	0.642	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			19	39	19	39	---	---	---	---
RASA3	22821	broad.mit.edu	37	13	114758029	114758029	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr13:114758029C>T	ENST00000334062.7	-	22	2298	c.2177G>A	c.(2176-2178)gGg>gAg	p.G726E	RASA3_ENST00000389544.4_Missense_Mutation_p.G694E	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	726					calcium ion transmembrane transport (GO:0070588)|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)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.G726E(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CTCACGGTCCCCATCAATGTC	0.493																																						uc001vui.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|skin(1)	4						c.(2176-2178)GGG>GAG		RAS p21 protein activator 3							105.0	78.0	87.0					13																	114758029		2202	4299	6501	SO:0001583	missense	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114758029C>T		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.2177G>A	13.37:g.114758029C>T	ENSP00000335029:p.Gly726Glu					RASA3_uc010tkk.1_Missense_Mutation_p.G694E|RASA3_uc001vuj.2_Missense_Mutation_p.G343E	p.G726E	NM_007368	NP_031394	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		22	2308	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	726					A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	c.2177G>A	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271708	0.40194	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	D;D	0.85013	-1.82;-1.93	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.80576	0.4649	L	0.39898	1.24	0.80722	D	1	B	0.24963	0.115	B	0.23574	0.047	T	0.75775	-0.3199	9	.	.	.	.	18.4236	0.90600	0.0:1.0:0.0:0.0	.	726	Q14644	RASA3_HUMAN	E	726;694	ENSP00000335029:G726E;ENSP00000374195:G694E	.	G	-	2	0	RASA3	113776131	1.000000	0.71417	0.988000	0.46212	0.419000	0.31324	6.879000	0.75572	2.353000	0.79882	0.655000	0.94253	GGG		PASS	0.493	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		7	33	7	33	---	---	---	---
METTL3	56339	broad.mit.edu	37	14	21979304	21979304	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr14:21979304C>A	ENST00000298717.4	-	1	213	c.62G>T	c.(61-63)aGg>aTg	p.R21M	METTL3_ENST00000545319.1_5'UTR|METTL3_ENST00000538267.1_Missense_Mutation_p.R21M	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	21					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)	p.R21M(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CCGCTGCAGCCTCTCCCGCAG	0.652																																						uc001wbc.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(61-63)AGG>ATG		methyltransferase like 3							43.0	39.0	40.0					14																	21979304		2203	4300	6503	SO:0001583	missense	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21979304C>A	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.62G>T	14.37:g.21979304C>A	ENSP00000298717:p.Arg21Met					METTL3_uc010tlw.1_RNA|METTL3_uc010tlx.1_Missense_Mutation_p.R21M|METTL3_uc001wbd.1_Missense_Mutation_p.R21M	p.R21M	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	1	154	-	all_cancers(95;0.000628)		21					O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	c.62G>T	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	C	34	5.305667	0.95601	.	.	ENSG00000165819	ENST00000298717;ENST00000538267;ENST00000440691	T;T	0.38240	1.15;1.15	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.996;0.936	T	0.52983	-0.8502	10	0.87932	D	0	-0.0187	17.8959	0.88888	0.0:1.0:0.0:0.0	.	21;21;21	B4E2F6;B4DTN4;Q86U44	.;.;MTA70_HUMAN	M	21	ENSP00000298717:R21M;ENSP00000442316:R21M	ENSP00000298717:R21M	R	-	2	0	METTL3	21049144	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.490000	0.73645	2.758000	0.94735	0.655000	0.94253	AGG		PASS	0.652	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		6	11	6	11	---	---	---	---
TRAV4	28689	broad.mit.edu	37	14	22205217	22205217	+	RNA	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr14:22205217G>T	ENST00000390426.2	+	0	348									T cell receptor alpha variable 4																		AGCCTGCCCCGGGTTTCCCTG	0.537																																						uc010aio.1																			0													Homo sapiens mRNA for T cell receptor alpha variable 4, partial cds, clone: SEB 72.							45.0	44.0	44.0					14																	22205217		1977	4163	6140			0							g.chr14:22205217G>T	AE000658		14q11.2	2012-02-07			ENSG00000211778	ENSG00000211778		"""T cell receptors / TRA locus"""	12140	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV20S1, TCRAV4S1			OTTHUMG00000168982		14.37:g.22205217G>T						uc001wbp.2_Missense_Mutation_p.R94L|uc010aip.1_Intron								2		+									RNA	SNP	ENST00000390426.2	37	c.116G>T																																																																																					PASS	0.537	TRAV4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401877.1	NG_001332		9	22	9	22	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23866020	23866020	+	Silent	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr14:23866020G>A	ENST00000356287.3	-	18	2204	c.2175C>T	c.(2173-2175)cgC>cgT	p.R725R	MYH6_ENST00000405093.3_Silent_p.R725R			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	725	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.R725R(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGTTCAGGATGCGATACCTGA	0.542																																						uc001wjv.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(2173-2175)CGC>CGT		myosin heavy chain 6							100.0	80.0	87.0					14																	23866020		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23866020G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2175C>T	14.37:g.23866020G>A							p.R725R	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	19	2242	-	all_cancers(95;2.54e-05)		725			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.2175C>T	CCDS9600.1																																																																																				PASS	0.542	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			21	40	21	40	---	---	---	---
RNF31	55072	broad.mit.edu	37	14	24626791	24626791	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr14:24626791A>T	ENST00000324103.6	+	16	2991	c.2671A>T	c.(2671-2673)Acc>Tcc	p.T891S	RNF31_ENST00000559275.1_Missense_Mutation_p.T740S|RNA5SP383_ENST00000362934.1_RNA|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.T366S|RNF31_ENST00000382687.3_Missense_Mutation_p.T740S	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	891					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T891S(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CTTTCACTGTACCCAGTGCCG	0.602																																						uc001wmn.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(2671-2673)ACC>TCC		ring finger protein 31							101.0	109.0	107.0					14																	24626791		2071	4217	6288	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24626791A>T	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2671A>T	14.37:g.24626791A>T	ENSP00000315112:p.Thr891Ser					RNF31_uc001wml.1_Missense_Mutation_p.T740S|RNF31_uc010alg.1_Missense_Mutation_p.T650S|RNF31_uc001wmo.1_Missense_Mutation_p.T358S|RNF31_uc001wmp.2_RNA|RNF31_uc010alh.1_Missense_Mutation_p.T75S	p.T891S	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	16	2920	+			891			IBR-type 2.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.2671A>T	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	A	10.64	1.407312	0.25378	.	.	ENSG00000092098	ENST00000382682;ENST00000324103;ENST00000382687	D;D	0.82803	-1.65;-1.65	5.45	5.45	0.79879	Zinc finger, C6HC-type (1);Zinc finger, RING-type (1);	0.059198	0.64402	D	0.000001	T	0.57154	0.2034	N	0.02296	-0.605	0.34461	D	0.701757	B;B;B;B	0.29136	0.15;0.039;0.15;0.234	B;B;B;B	0.30782	0.056;0.026;0.056;0.12	T	0.63541	-0.6614	10	0.05351	T	0.99	-22.717	8.5629	0.33523	0.734:0.0:0.0:0.2659	.	891;650;891;740	A0A962;B3KV71;Q96EP0;Q96EP0-3	.;.;RNF31_HUMAN;.	S	324;891;740	ENSP00000315112:T891S;ENSP00000372134:T740S	ENSP00000315112:T891S	T	+	1	0	RNF31	23696631	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.511000	0.53400	2.288000	0.76882	0.528000	0.53228	ACC		PASS	0.602	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		43	109	43	109	---	---	---	---
NYNRIN	57523	broad.mit.edu	37	14	24877435	24877435	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr14:24877435G>T	ENST00000382554.3	+	3	877	c.559G>T	c.(559-561)Gag>Tag	p.E187*		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	187					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.E187*(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGCGGTCCAGGAGCTGCTGCT	0.657																																						uc001wpf.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(559-561)GAG>TAG		hypothetical protein LOC57523							17.0	22.0	20.0					14																	24877435		2058	4199	6257	SO:0001587	stop_gained	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24877435G>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.559G>T	14.37:g.24877435G>T	ENSP00000371994:p.Glu187*						p.E187*	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			3	877	+			187					Q6P153|Q86TR3|Q9HAC4	Nonsense_Mutation	SNP	ENST00000382554.3	37	c.559G>T	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	39	7.720811	0.98453	.	.	ENSG00000205978	ENST00000382554	.	.	.	4.82	4.82	0.62117	.	0.220504	0.25130	N	0.032907	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.4421	0.75190	0.0:0.0:1.0:0.0	.	.	.	.	X	187	.	ENSP00000371994:E187X	E	+	1	0	NYNRIN	23947275	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.076000	0.89503	2.503000	0.84419	0.655000	0.94253	GAG		PASS	0.657	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			3	5	3	5	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47566248	47566248	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr14:47566248G>A	ENST00000399232.2	-	6	1161	c.797C>T	c.(796-798)aCa>aTa	p.T266I	MDGA2_ENST00000439988.3_Missense_Mutation_p.T335I|MDGA2_ENST00000357362.3_Missense_Mutation_p.T37I|MDGA2_ENST00000426342.1_Missense_Mutation_p.T37I	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	266	Ig-like 3.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.T37K(2)|p.T37I(2)|p.T335K(1)|p.T335I(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCCTCCTGTTGTAACACATAC	0.443																																						uc001wwj.3																			6	Substitution - Missense(6)		large_intestine(3)|lung(3)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(796-798)ACA>ATA		MAM domain containing 1 isoform 1							125.0	118.0	120.0					14																	47566248		1912	4119	6031	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47566248G>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.797C>T	14.37:g.47566248G>A	ENSP00000382178:p.Thr266Ile					MDGA2_uc001wwi.3_Missense_Mutation_p.T37I|MDGA2_uc010ani.2_5'UTR	p.T266I	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			6	993	-			266			Ig-like 3.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.797C>T		.	.	.	.	.	.	.	.	.	.	G	11.10	1.538813	0.27475	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	5.65	5.65	0.86999	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	U	0.000066	T	0.06416	0.0165	N	0.03194	-0.395	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.46470	-0.9189	10	0.24483	T	0.36	.	18.6475	0.91416	0.0:0.0:1.0:0.0	.	266	Q7Z553	MDGA2_HUMAN	I	266;37;335;37	ENSP00000400011:T266I;ENSP00000405456:T37I;ENSP00000382178:T335I;ENSP00000349925:T37I	ENSP00000349925:T37I	T	-	2	0	MDGA2	46635998	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.938000	0.70170	2.821000	0.97095	0.650000	0.86243	ACA		PASS	0.443	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		25	87	25	87	---	---	---	---
SMOC1	64093	broad.mit.edu	37	14	70444656	70444656	+	Nonsense_Mutation	SNP	T	T	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr14:70444656T>A	ENST00000381280.4	+	5	753	c.500T>A	c.(499-501)tTg>tAg	p.L167*	SMOC1_ENST00000361956.3_Nonsense_Mutation_p.L167*	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	167					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)	p.L167*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GACAAGCCCTTGAGCCAGGGT	0.433																																						uc001xls.1																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(499-501)TTG>TAG		secreted modular calcium-binding protein 1							182.0	151.0	161.0					14																	70444656		2203	4300	6503	SO:0001587	stop_gained	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70444656T>A	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.500T>A	14.37:g.70444656T>A	ENSP00000370680:p.Leu167*					SMOC1_uc001xlt.1_Nonsense_Mutation_p.L167*	p.L167*	NM_022137	NP_071420	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	5	753	+			167					A8K1S3|B2R7P5|Q96F78	Nonsense_Mutation	SNP	ENST00000381280.4	37	c.500T>A	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.031492	0.93575	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	.	.	.	5.13	-1.72	0.08107	.	0.811394	0.11054	N	0.604755	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	0.2095	11.4373	0.50074	0.0:0.6119:0.0:0.3881	.	.	.	.	X	167	.	ENSP00000355110:L167X	L	+	2	0	SMOC1	69514409	0.992000	0.36948	0.898000	0.35279	0.981000	0.71138	1.436000	0.34980	-0.253000	0.09514	-0.432000	0.05891	TTG		PASS	0.433	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			19	50	19	50	---	---	---	---
ADAM20	8748	broad.mit.edu	37	14	70990987	70990987	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr14:70990987C>A	ENST00000256389.3	-	2	882	c.638G>T	c.(637-639)aGt>aTt	p.S213I	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	163	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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.S213I(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)		TGTATCATCACTGTCTATCTT	0.378																																						uc001xme.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(637-639)AGT>ATT		ADAM metallopeptidase domain 20 preproprotein							109.0	97.0	101.0					14																	70990987		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70990987C>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.638G>T	14.37:g.70990987C>A	ENSP00000256389:p.Ser213Ile						p.S213I	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	883	-			163					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.638G>T	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.425611	0.25639	.	.	ENSG00000134007	ENST00000256389	T	0.01068	5.38	4.03	-1.81	0.07882	.	0.738369	0.11210	U	0.587818	T	0.01092	0.0036	L	0.41236	1.265	0.09310	N	1	B	0.20261	0.043	B	0.21546	0.035	T	0.47535	-0.9110	10	0.62326	D	0.03	.	1.715	0.02899	0.1281:0.1899:0.3634:0.3187	.	163	O43506	ADA20_HUMAN	I	213	ENSP00000256389:S213I	ENSP00000256389:S213I	S	-	2	0	ADAM20	70060740	0.000000	0.05858	0.000000	0.03702	0.905000	0.53344	-4.312000	0.00255	-0.143000	0.11334	0.650000	0.86243	AGT		PASS	0.378	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			16	64	16	64	---	---	---	---
ADAM20	8748	broad.mit.edu	37	14	70991078	70991078	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr14:70991078G>C	ENST00000256389.3	-	2	791	c.547C>G	c.(547-549)Ctt>Gtt	p.L183V	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	133					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.L183V(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)		AGCATTCCAAGAAAGCCCCCA	0.448																																						uc001xme.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(547-549)CTT>GTT		ADAM metallopeptidase domain 20 preproprotein							103.0	93.0	96.0					14																	70991078		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70991078G>C	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.547C>G	14.37:g.70991078G>C	ENSP00000256389:p.Leu183Val						p.L183V	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	792	-			133					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.547C>G	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692259	0.30052	.	.	ENSG00000134007	ENST00000256389	T	0.06528	3.29	4.14	3.24	0.37175	Peptidase M12B, propeptide (1);	1.039890	0.07755	N	0.949173	T	0.04543	0.0124	N	0.12182	0.205	0.09310	N	1	B	0.25235	0.121	B	0.23419	0.046	T	0.24621	-1.0155	10	0.72032	D	0.01	.	6.9811	0.24704	0.0945:0.0:0.7305:0.1751	.	133	O43506	ADA20_HUMAN	V	183	ENSP00000256389:L183V	ENSP00000256389:L183V	L	-	1	0	ADAM20	70060831	0.002000	0.14202	0.571000	0.28486	0.851000	0.48451	0.544000	0.23253	2.292000	0.77174	0.650000	0.86243	CTT		PASS	0.448	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			18	61	18	61	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75276445	75276445	+	Silent	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr14:75276445A>T	ENST00000552421.1	+	6	2890	c.2766A>T	c.(2764-2766)ccA>ccT	p.P922P	YLPM1_ENST00000238571.3_Silent_p.P1433P|YLPM1_ENST00000325680.7_Silent_p.P1628P			P49750	YLPM1_HUMAN	YLP motif containing 1	1433	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.P1433P(1)|p.P1628P(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TGGGTATGCCACCAATGTCCA	0.493																																						uc001xqj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(4882-4884)CCA>CCT		YLP motif containing 1							61.0	60.0	60.0					14																	75276445		1985	4157	6142	SO:0001819	synonymous_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75276445A>T	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.2766A>T	14.37:g.75276445A>T						YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Silent_p.P111P	p.P1628P	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	7	5008	+			1433					P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000552421.1	37	c.4884A>T																																																																																					PASS	0.493	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		9	39	9	39	---	---	---	---
TSHR	7253	broad.mit.edu	37	14	81609986	81609986	+	Silent	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr14:81609986C>A	ENST00000541158.2	+	11	1906	c.1584C>A	c.(1582-1584)cgC>cgA	p.R528R	TSHR_ENST00000298171.2_Silent_p.R528R|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	528			R -> H. {ECO:0000269|PubMed:9589634}.	R -> A (in Ref. 4; AAA70232). {ECO:0000305}.	adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.R528R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCGCCATGCGCCTGGACCGGA	0.567			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															uc001xvd.1			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 	E		thyroid  adenoma	toxic thyroid adenoma		1	Substitution - coding silent(1)		lung(1)	thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299						c.(1582-1584)CGC>CGA		thyroid stimulating hormone receptor isoform 1	Thyrotropin Alfa(DB00024)						491.0	332.0	386.0					14																	81609986		2203	4300	6503	SO:0001819	synonymous_variant	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81609986C>A	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1584C>A	14.37:g.81609986C>A							p.R528R	NM_000369	NP_000360	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	10	1740	+			528	R -> A (in Ref. 4; AAA70232).	R -> H.	Cytoplasmic (Potential).		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	c.1584C>A	CCDS9872.1																																																																																				PASS	0.567	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		14	37	14	37	---	---	---	---
SLC24A4	123041	broad.mit.edu	37	14	92949175	92949175	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr14:92949175C>A	ENST00000532405.1	+	13	1633	c.1407C>A	c.(1405-1407)taC>taA	p.Y469*	SLC24A4_ENST00000531433.1_Nonsense_Mutation_p.Y450*|SLC24A4_ENST00000351924.5_Nonsense_Mutation_p.Y433*|SLC24A4_ENST00000298877.1_Nonsense_Mutation_p.Y452*|SLC24A4_ENST00000393265.2_Nonsense_Mutation_p.Y405*			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	469					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.Y452*(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TGTTCTCCTACATCATGGTGT	0.592																																					NSCLC(10;315 435 10383 28450 38798)	uc001yak.2																			1	Substitution - Nonsense(1)		lung(1)	breast(2)|ovary(1)	3						c.(1354-1356)TAC>TAA		solute carrier family 24 member 4 isoform 1							66.0	51.0	56.0					14																	92949175		2203	4300	6503	SO:0001587	stop_gained	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92949175C>A	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1407C>A	14.37:g.92949175C>A	ENSP00000431840:p.Tyr469*					SLC24A4_uc001yai.2_Nonsense_Mutation_p.Y405*|SLC24A4_uc010twm.1_Nonsense_Mutation_p.Y450*|SLC24A4_uc001yaj.2_Nonsense_Mutation_p.Y433*|SLC24A4_uc010auj.2_Nonsense_Mutation_p.Y341*|SLC24A4_uc010twn.1_Nonsense_Mutation_p.Y225*|SLC24A4_uc001yan.2_Nonsense_Mutation_p.Y163*	p.Y452*	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	13	1380	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	469			Helical; (Potential).		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Nonsense_Mutation	SNP	ENST00000532405.1	37	c.1356C>A	CCDS9903.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.536197|5.536197	0.96460|0.96460	.|.	.|.	ENSG00000140090|ENSG00000140090	ENST00000525557|ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924;ENST00000318079	.|.	.|.	.|.	5.74|5.74	3.58|3.58	0.41010|0.41010	.|.	.|0.110408	.|0.64402	.|D	.|0.000005	T|.	0.35682|.	0.0940|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33777|.	-0.9855|.	3|.	.|0.02654	.|T	.|1	.|.	14.8863|14.8863	0.70572|0.70572	0.0:0.8095:0.0:0.1905|0.0:0.8095:0.0:0.1905	.|.	.|.	.|.	.|.	N|X	335|405;450;469;452;433;321	.|.	.|ENSP00000298877:Y452X	H|Y	+|+	1|3	0|2	SLC24A4|SLC24A4	92018928|92018928	0.517000|0.517000	0.26226|0.26226	0.999000|0.999000	0.59377|0.59377	0.522000|0.522000	0.34438|0.34438	1.129000|1.129000	0.31381|0.31381	0.791000|0.791000	0.33826|0.33826	-1.134000|-1.134000	0.01955|0.01955	CAT|TAC		PASS	0.592	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		12	33	12	33	---	---	---	---
TECPR2	9895	broad.mit.edu	37	14	102900620	102900620	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr14:102900620G>C	ENST00000359520.7	+	9	1692	c.1466G>C	c.(1465-1467)tGc>tCc	p.C489S	TECPR2_ENST00000558678.1_Missense_Mutation_p.C489S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	489					autophagy (GO:0006914)|cell death (GO:0008219)			p.C489S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TCGACACCCTGCTCCGAATTT	0.488																																						uc001ylw.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)|skin(1)	3						c.(1465-1467)TGC>TCC		tectonin beta-propeller repeat containing 2							53.0	51.0	52.0					14																	102900620		2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102900620G>C	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1466G>C	14.37:g.102900620G>C	ENSP00000352510:p.Cys489Ser					TECPR2_uc010awl.2_Missense_Mutation_p.C489S|TECPR2_uc010txx.1_Intron	p.C489S	NM_014844	NP_055659	O15040	TCPR2_HUMAN			9	1614	+			489					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.1466G>C	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	G	9.868	1.198140	0.22037	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.14022	2.54	5.81	5.81	0.92471	.	0.452014	0.24518	N	0.037836	T	0.09335	0.0230	L	0.38531	1.155	0.27814	N	0.942037	B;B	0.26672	0.156;0.156	B;B	0.19666	0.026;0.026	T	0.29640	-1.0005	10	0.05721	T	0.95	.	10.8007	0.46487	0.0689:0.0:0.7985:0.1326	.	489;489	A5PKY3;O15040	.;TCPR2_HUMAN	S	489	ENSP00000352510:C489S	ENSP00000352510:C489S	C	+	2	0	TECPR2	101970373	1.000000	0.71417	0.993000	0.49108	0.299000	0.27559	2.686000	0.46968	2.755000	0.94549	0.650000	0.86243	TGC		PASS	0.488	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		17	54	17	54	---	---	---	---
PLD4	122618	broad.mit.edu	37	14	105398141	105398141	+	Silent	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr14:105398141G>A	ENST00000392593.4	+	8	1143	c.975G>A	c.(973-975)ctG>ctA	p.L325L	PLD4_ENST00000553861.1_5'Flank|PLD4_ENST00000540372.1_Silent_p.L332L	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	325					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)	p.L308L(1)|p.L325L(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			AGGCGCTGCTGGCGGTGATGG	0.667																																						uc001ypu.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(973-975)CTG>CTA		phospholipase D4	Choline(DB00122)						11.0	15.0	14.0					14																	105398141		1963	4125	6088	SO:0001819	synonymous_variant	122618				lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity	g.chr14:105398141G>A		CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 175"""	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.975G>A	14.37:g.105398141G>A						PLD4_uc010tyl.1_Silent_p.L332L	p.L325L	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		8	1116	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	325					Q6UWD2	Silent	SNP	ENST00000392593.4	37	c.975G>A	CCDS9995.2																																																																																				PASS	0.667	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	NM_138790		6	9	6	9	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105420486	105420486	+	Silent	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr14:105420486G>T	ENST00000333244.5	-	7	1421	c.1302C>A	c.(1300-1302)gcC>gcA	p.A434A	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	434						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.A434A(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTTCCTCTGGGCCACTGCTG	0.637																																						uc010axc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1300-1302)GCC>GCA		AHNAK nucleoprotein 2							46.0	51.0	49.0					14																	105420486		2023	4160	6183	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105420486G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1302C>A	14.37:g.105420486G>T						AHNAK2_uc001ypx.2_Silent_p.A334A	p.A434A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1422	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	434					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.1302C>A	CCDS45177.1																																																																																				PASS	0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		17	60	17	60	---	---	---	---
TUBGCP5	114791	broad.mit.edu	37	15	22868841	22868841	+	Splice_Site	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr15:22868841A>G	ENST00000283645.4	+	20	2843	c.2713A>G	c.(2713-2715)Att>Gtt	p.I905V	TUBGCP5_ENST00000453949.2_Splice_Site_p.I905V	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	905					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.I905V(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CTCTTCCAAGATTCTACACAG	0.388																																						uc001yur.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2713-2715)ATT>GTT		tubulin, gamma complex associated protein 5							97.0	91.0	93.0					15																	22868841		2203	4300	6503	SO:0001630	splice_region_variant	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22868841A>G	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.2713-1A>G	15.37:g.22868841A>G						TUBGCP5_uc001yuq.2_Missense_Mutation_p.I905V	p.I905V	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	20	2843	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	905					E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	c.2713A>G	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	A	2.072	-0.412756	0.04799	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.05258	3.47;3.47	5.27	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.10423	0.0255	L	0.31845	0.965	0.58432	D	0.999999	P;P	0.43231	0.693;0.801	P;P	0.52646	0.615;0.705	T	0.22417	-1.0217	9	.	.	.	-21.8575	11.7024	0.51579	0.8676:0.0:0.0:0.1324	.	905;905	Q96RT8;E9PB12	GCP5_HUMAN;.	V	905	ENSP00000283645:I905V;ENSP00000409217:I905V	.	I	+	1	0	TUBGCP5	20420282	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	8.530000	0.90606	1.001000	0.39076	-0.327000	0.08410	ATT		PASS	0.388	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903	Missense_Mutation	18	40	18	40	---	---	---	---
GABRB3	2562	broad.mit.edu	37	15	26828552	26828552	+	Silent	SNP	C	C	G	rs143528720	byFrequency	TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr15:26828552C>G	ENST00000311550.5	-	5	582	c.471G>C	c.(469-471)acG>acC	p.T157T	GABRB3_ENST00000545868.1_Silent_p.T72T|GABRB3_ENST00000299267.4_Silent_p.T157T|GABRB3_ENST00000541819.2_Silent_p.T213T|GABRB3_ENST00000400188.3_Silent_p.T86T	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	157					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.T157T(2)|p.T213T(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGCTGCTGTCGTGGTGATTC	0.473																																						uc001zaz.2																			3	Substitution - coding silent(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(469-471)ACG>ACC		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						146.0	130.0	135.0					15																	26828552		2203	4300	6503	SO:0001819	synonymous_variant	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26828552C>G		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.471G>C	15.37:g.26828552C>G						GABRB3_uc010uae.1_Silent_p.T72T|GABRB3_uc001zba.2_Silent_p.T157T|GABRB3_uc001zbb.2_Silent_p.T213T	p.T157T	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	5	613	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	157			Extracellular (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	c.471G>C	CCDS10019.1																																																																																				PASS	0.473	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			35	40	35	40	---	---	---	---
USP8	9101	broad.mit.edu	37	15	50786304	50786304	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr15:50786304G>C	ENST00000396444.3	+	16	2823	c.2485G>C	c.(2485-2487)Gaa>Caa	p.E829Q	USP8_ENST00000433963.1_Missense_Mutation_p.E829Q|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000307179.4_Missense_Mutation_p.E829Q|USP8_ENST00000425032.3_Missense_Mutation_p.E723Q	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	829	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.E829Q(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AGTGGCAGAAGAATTTGGTAT	0.363																																						uc001zym.3																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(2485-2487)GAA>CAA		ubiquitin specific peptidase 8							104.0	101.0	102.0					15																	50786304		2196	4294	6490	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50786304G>C	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2485G>C	15.37:g.50786304G>C	ENSP00000379721:p.Glu829Gln					USP8_uc001zyl.3_Missense_Mutation_p.E829Q|USP8_uc001zyn.3_Missense_Mutation_p.E829Q|USP8_uc010ufh.1_Missense_Mutation_p.E723Q|uc001zyo.1_RNA|USP8_uc001zyp.3_5'UTR	p.E829Q	NM_001128611	NP_001122083	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	17	2985	+			829					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.2485G>C	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837137	0.91117	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.18	5.18	0.71444	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.31358	0.0794	N	0.20530	0.585	0.80722	D	1	P;P	0.46784	0.78;0.884	P;P	0.48840	0.592;0.592	T	0.03364	-1.1044	10	0.37606	T	0.19	-23.6674	19.0607	0.93091	0.0:0.0:1.0:0.0	.	723;829	B4DKA8;P40818	.;UBP8_HUMAN	Q	829;829;829;723;54;49	ENSP00000379721:E829Q;ENSP00000405537:E829Q;ENSP00000302239:E829Q;ENSP00000412682:E723Q	ENSP00000302239:E829Q	E	+	1	0	USP8	48573596	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.444000	0.97578	2.577000	0.86979	0.650000	0.86243	GAA		PASS	0.363	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		27	91	27	91	---	---	---	---
TMOD2	29767	broad.mit.edu	37	15	52098581	52098581	+	Missense_Mutation	SNP	A	A	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr15:52098581A>C	ENST00000249700.4	+	9	1105	c.884A>C	c.(883-885)cAg>cCg	p.Q295P	TMOD2_ENST00000435126.2_Missense_Mutation_p.Q259P|TMOD2_ENST00000539962.2_Missense_Mutation_p.Q251P	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	295					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)	p.Q295P(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		CAGAGGCAGCAGTTGGGAACA	0.488																																						uc002abk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(883-885)CAG>CCG		neuronal tropomodulin isoform a							75.0	65.0	69.0					15																	52098581		2195	4293	6488	SO:0001583	missense	29767				nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52098581A>C	AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.884A>C	15.37:g.52098581A>C	ENSP00000249700:p.Gln295Pro					TMOD2_uc002abl.3_Missense_Mutation_p.Q259P|TMOD2_uc010bfb.2_Missense_Mutation_p.Q251P	p.Q295P	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN		all cancers(107;0.00435)	9	1105	+			295					B4DEW6	Missense_Mutation	SNP	ENST00000249700.4	37	c.884A>C	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	A	19.03	3.747081	0.69418	.	.	ENSG00000128872	ENST00000435126;ENST00000249700;ENST00000539962	D;D;D	0.91521	-2.86;-2.86;-2.86	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.92427	0.7596	L	0.39514	1.22	0.58432	D	0.999999	P;D	0.76494	0.589;0.999	P;D	0.87578	0.544;0.998	D	0.90999	0.4841	10	0.28530	T	0.3	-16.6635	15.0566	0.71917	1.0:0.0:0.0:0.0	.	259;295	Q9NZR1-2;Q9NZR1	.;TMOD2_HUMAN	P	259;295;251	ENSP00000404590:Q259P;ENSP00000249700:Q295P;ENSP00000437743:Q251P	ENSP00000249700:Q295P	Q	+	2	0	TMOD2	49885873	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.139000	0.94554	2.150000	0.67090	0.533000	0.62120	CAG		PASS	0.488	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			19	22	19	22	---	---	---	---
AAGAB	79719	broad.mit.edu	37	15	67524205	67524205	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr15:67524205C>T	ENST00000261880.5	-	5	586	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	AAGAB_ENST00000542650.1_Missense_Mutation_p.R52Q|AAGAB_ENST00000561452.1_Missense_Mutation_p.R52Q	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	161					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R161Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						TTGGACAATTCGCTTTACTCC	0.373																																						uc002aqk.3																			2	Substitution - Missense(2)		lung(1)|kidney(1)		0						c.(481-483)CGA>CAA		alpha- and gamma-adaptin-binding protein p34							253.0	240.0	244.0					15																	67524205		1919	4136	6055	SO:0001583	missense	79719				protein transport	cytoplasm		g.chr15:67524205C>T	AL136715	CCDS42050.1, CCDS61679.1	15q22.33-q23	2014-02-12	2009-07-20		ENSG00000103591	ENSG00000103591			25662	protein-coding gene	gene with protein product		614888				11230166, 10477754	Standard	NM_024666		Approved	FLJ11506, p34	uc002aqk.5	Q6PD74	OTTHUMG00000172246	ENST00000261880.5:c.482G>A	15.37:g.67524205C>T	ENSP00000261880:p.Arg161Gln					AAGAB_uc002aql.2_Missense_Mutation_p.R52Q|AAGAB_uc010uju.1_Missense_Mutation_p.R52Q	p.R161Q	NM_024666	NP_078942	Q6PD74	AAGAB_HUMAN			5	587	-			161					B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0	Missense_Mutation	SNP	ENST00000261880.5	37	c.482G>A	CCDS42050.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732569	0.89482	.	.	ENSG00000103591	ENST00000261880;ENST00000542650	T;T	0.70164	-0.35;-0.46	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.73536	0.3599	M	0.69823	2.125	0.80722	D	1	D	0.58970	0.984	P	0.48189	0.57	T	0.78094	-0.2338	10	0.72032	D	0.01	-12.3836	18.9506	0.92640	0.0:1.0:0.0:0.0	.	161	Q6PD74	AAGAB_HUMAN	Q	161;52	ENSP00000261880:R161Q;ENSP00000440735:R52Q	ENSP00000261880:R161Q	R	-	2	0	AAGAB	65311259	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	7.225000	0.78051	2.699000	0.92147	0.650000	0.86243	CGA		PASS	0.373	AAGAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417472.1	NM_024666		66	196	66	196	---	---	---	---
LRRC49	54839	broad.mit.edu	37	15	71272438	71272438	+	Splice_Site	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr15:71272438A>T	ENST00000260382.5	+	10	1181		c.e10-1		LRRC49_ENST00000544974.2_Splice_Site|LRRC49_ENST00000560691.1_Splice_Site|LRRC49_ENST00000560158.2_Splice_Site|LRRC49_ENST00000443425.2_Splice_Site|LRRC49_ENST00000560369.1_Splice_Site|LRRC49_ENST00000436542.2_Splice_Site	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49							cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.?(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AATGTCTTTTAGGAAGAAGAA	0.343																																						uc002asw.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e10-2		leucine rich repeat containing 49							103.0	97.0	99.0					15																	71272438		2199	4297	6496	SO:0001630	splice_region_variant	54839					cytoplasm|microtubule		g.chr15:71272438A>T		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.922-1A>T	15.37:g.71272438A>T						LRRC49_uc002asu.2_Splice_Site_p.E298_splice|LRRC49_uc002asx.2_Splice_Site_p.E264_splice|LRRC49_uc010ukf.1_Splice_Site_p.E313_splice|LRRC49_uc002asy.2_Splice_Site_p.E14_splice|LRRC49_uc002asz.2_Splice_Site_p.E280_splice	p.E308_splice	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN			10	1169	+								B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Splice_Site	SNP	ENST00000260382.5	37	c.922_splice	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.862673	0.51482	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5836	0.56403	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRC49	69059492	0.999000	0.42202	0.939000	0.37840	0.949000	0.60115	5.272000	0.65559	1.923000	0.55706	0.374000	0.22700	.		PASS	0.343	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691	Intron	44	41	44	41	---	---	---	---
TMEM202	338949	broad.mit.edu	37	15	72700065	72700065	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr15:72700065G>T	ENST00000341689.3	+	5	707	c.653G>T	c.(652-654)aGa>aTa	p.R218I	TMEM202_ENST00000567679.1_3'UTR	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	218						integral component of membrane (GO:0016021)		p.R218I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TTAACTTCCAGATCGCCTGCC	0.448																																						uc002auq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(652-654)AGA>ATA		transmembrane protein 202							82.0	82.0	82.0					15																	72700065		2199	4297	6496	SO:0001583	missense	338949					integral to membrane		g.chr15:72700065G>T		CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.653G>T	15.37:g.72700065G>T	ENSP00000340212:p.Arg218Ile					TMEM202_uc002aur.2_RNA	p.R218I	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN			5	653	+			218						Missense_Mutation	SNP	ENST00000341689.3	37	c.653G>T	CCDS32287.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969320	0.53614	.	.	ENSG00000187806	ENST00000341689	T	0.48201	0.82	4.61	2.56	0.30785	.	0.759798	0.11856	N	0.522851	T	0.35128	0.0921	L	0.50333	1.59	0.09310	N	1	P	0.39782	0.688	B	0.34242	0.178	T	0.31613	-0.9937	10	0.56958	D	0.05	-1.0743	3.239	0.06774	0.1554:0.0:0.5886:0.256	.	218	A6NGA9	TM202_HUMAN	I	218	ENSP00000340212:R218I	ENSP00000340212:R218I	R	+	2	0	TMEM202	70487119	0.000000	0.05858	0.020000	0.16555	0.135000	0.20990	0.220000	0.17660	0.412000	0.25729	0.561000	0.74099	AGA		PASS	0.448	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462		42	40	42	40	---	---	---	---
AGBL1	123624	broad.mit.edu	37	15	86807771	86807772	+	Missense_Mutation	DNP	CC	CC	AA	rs544641235		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr15:86807771_86807772CC>AA	ENST00000441037.2	+	10	1326_1327	c.1231_1232CC>AA	c.(1231-1233)CCt>AAt	p.P411N	AGBL1_ENST00000389298.3_Missense_Mutation_p.P142N|AGBL1_ENST00000421325.2_Missense_Mutation_p.P411N	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	411					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.P411H(1)|p.P411N(1)|p.P411T(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AAGTGAAATCCCTGACATTCAG	0.455																																						uc002blz.1																			3	Substitution - Missense(3)		lung(3)		0						c.(1231-1233)CCT>ACT|c.(1231-1233)CCT>CAT		ATP/GTP binding protein-like 1																																				SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86807771C>A|g.chr15:86807772C>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	Exception_encountered	15.37:g.86807771_86807772delinsAA	ENSP00000413001:p.Pro411Asn					AGBL1_uc002bma.1_Missense_Mutation_p.P142T|AGBL1_uc002bmb.1_Missense_Mutation_p.P105T|AGBL1_uc002bma.1_Missense_Mutation_p.P142H|AGBL1_uc002bmb.1_Missense_Mutation_p.P105H	p.P411T|p.P411H	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			10	1311|1312	+			411					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.1231C>A|c.1232C>A	CCDS58398.1																																																																																				PASS	0.455	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		50|52	58|57	50	57	---	---	---	---
AGBL1	123624	broad.mit.edu	37	15	86807907	86807907	+	Missense_Mutation	SNP	A	A	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr15:86807907A>C	ENST00000441037.2	+	10	1462	c.1367A>C	c.(1366-1368)cAt>cCt	p.H456P	AGBL1_ENST00000389298.3_Missense_Mutation_p.H187P|AGBL1_ENST00000421325.2_Missense_Mutation_p.H456P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	456					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.H456P(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CTGCAGACACATCTGAAGCGT	0.448																																						uc002blz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1366-1368)CAT>CCT		ATP/GTP binding protein-like 1							139.0	137.0	137.0					15																	86807907		1899	4118	6017	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86807907A>C	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1367A>C	15.37:g.86807907A>C	ENSP00000413001:p.His456Pro					AGBL1_uc002bma.1_Missense_Mutation_p.H187P|AGBL1_uc002bmb.1_Missense_Mutation_p.H150P	p.H456P	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			10	1447	+			456					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.1367A>C	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928818	0.52759	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.11712	2.77;2.75	5.51	3.22	0.36961	Armadillo-type fold (1);	0.232251	0.41712	D	0.000826	T	0.19765	0.0475	M	0.70275	2.135	0.09310	N	1	D;D;D	0.56521	0.969;0.975;0.976	P;P;P	0.53450	0.656;0.726;0.564	T	0.06110	-1.0845	10	0.36615	T	0.2	-12.0627	7.9652	0.30094	0.8416:0.0:0.1584:0.0	.	155;187;456	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	P	485;456;187	ENSP00000397173:H456P;ENSP00000373949:H187P	ENSP00000373949:H187P	H	+	2	0	AGBL1	84608911	0.020000	0.18652	0.004000	0.12327	0.158000	0.22134	1.164000	0.31810	0.490000	0.27771	0.528000	0.53228	CAT		PASS	0.448	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		44	138	44	138	---	---	---	---
ANPEP	290	broad.mit.edu	37	15	90349346	90349346	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr15:90349346C>G	ENST00000300060.6	-	2	782	c.469G>C	c.(469-471)Gag>Cag	p.E157Q		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	157	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.E157Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TCGGTGGGCTCCACCAGCTCA	0.617																																					NSCLC(30;827 977 2459 19669 26125)	uc002bop.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(469-471)GAG>CAG		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)						83.0	77.0	79.0					15																	90349346		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90349346C>G	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.469G>C	15.37:g.90349346C>G	ENSP00000300060:p.Glu157Gln						p.E157Q	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		2	761	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		157			Extracellular.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.469G>C	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797085	0.31777	.	.	ENSG00000166825	ENST00000300060	T	0.02656	4.21	5.07	1.59	0.23543	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	1.548480	0.03220	N	0.177439	T	0.08891	0.0220	M	0.66939	2.045	0.09310	N	1	P	0.44776	0.843	P	0.51550	0.673	T	0.27262	-1.0079	10	0.33940	T	0.23	.	6.5342	0.22344	0.1518:0.6589:0.0:0.1893	.	157	P15144	AMPN_HUMAN	Q	157	ENSP00000300060:E157Q	ENSP00000300060:E157Q	E	-	1	0	ANPEP	88150350	0.000000	0.05858	0.007000	0.13788	0.749000	0.42624	-0.193000	0.09573	0.519000	0.28406	0.563000	0.77884	GAG		PASS	0.617	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			34	33	34	33	---	---	---	---
ASB7	140460	broad.mit.edu	37	15	101169888	101169888	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr15:101169888C>T	ENST00000332783.7	+	5	1243	c.458C>T	c.(457-459)cCg>cTg	p.P153L	ASB7_ENST00000558747.1_Intron|ASB7_ENST00000343276.4_Missense_Mutation_p.P153L	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	153					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.P153L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			GGTACCACACCGCTTCAGCTC	0.537																																						uc002bwk.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(457-459)CCG>CTG		ankyrin repeat and SOCS box-containing protein 7							87.0	72.0	77.0					15																	101169888		2203	4300	6503	SO:0001583	missense	140460				intracellular signal transduction			g.chr15:101169888C>T		CCDS10387.1, CCDS10388.1	15q26.3	2013-01-10	2011-01-25		ENSG00000183475	ENSG00000183475		"""Ankyrin repeat domain containing"""	17182	protein-coding gene	gene with protein product		615052	"""ankyrin repeat and SOCS box-containing 7"""				Standard	NM_024708		Approved		uc002bwk.3	Q9H672	OTTHUMG00000149868	ENST00000332783.7:c.458C>T	15.37:g.101169888C>T	ENSP00000328327:p.Pro153Leu					ASB7_uc002bwj.2_Missense_Mutation_p.P153L	p.P153L	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		5	1227	+	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		153			ANK 5.		A8K1E5|Q6GSJ6|Q7Z4S3	Missense_Mutation	SNP	ENST00000332783.7	37	c.458C>T	CCDS10387.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791778	0.50102	.	.	ENSG00000183475	ENST00000332783;ENST00000343276	T;T	0.70516	-0.49;-0.49	5.53	4.62	0.57501	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.85487	0.5708	M	0.87827	2.91	0.80722	D	1	B;D	0.89917	0.02;1.0	B;D	0.77557	0.002;0.99	D	0.88363	0.2989	10	0.87932	D	0	.	14.7213	0.69308	0.0:0.9302:0.0:0.0698	.	153;153	Q9H672;Q9H672-2	ASB7_HUMAN;.	L	153	ENSP00000328327:P153L;ENSP00000339819:P153L	ENSP00000328327:P153L	P	+	2	0	ASB7	98987411	1.000000	0.71417	0.044000	0.18714	0.025000	0.11179	7.306000	0.78905	1.473000	0.48159	-0.145000	0.13849	CCG		PASS	0.537	ASB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313617.1	NM_024708		8	53	8	53	---	---	---	---
PRR35	146325	broad.mit.edu	37	16	613551	613551	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr16:613551A>T	ENST00000409413.3	+	2	536	c.257A>T	c.(256-258)cAc>cTc	p.H86L		NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		86	Pro-rich.							p.H86L(1)		central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTAGGCCCCACGCACCCACC	0.701																																						uc002chk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(256-258)CAC>CTC		hypothetical protein LOC146325							46.0	46.0	46.0					16																	613551		1977	4130	6107	SO:0001583	missense	146325							g.chr16:613551A>T																												ENST00000409413.3:c.257A>T	16.37:g.613551A>T	ENSP00000386499:p.His86Leu						p.H86L	NM_145270	NP_660313	P0CG20	CP011_HUMAN			2	536	+			86			Pro-rich.		B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	c.257A>T	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	G	5.848	0.340627	0.11069	.	.	ENSG00000161992	ENST00000409413	.	.	.	4.65	-1.12	0.09808	.	1.270770	0.05618	N	0.579431	T	0.15262	0.0368	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15122	-1.0448	9	0.19590	T	0.45	.	1.0771	0.01634	0.3588:0.1461:0.3454:0.1496	.	86	P0CG20	CP011_HUMAN	L	86	.	ENSP00000386499:H86L	H	+	2	0	C16orf11	553552	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.013000	0.12678	-0.506000	0.06558	-0.226000	0.12346	CAC		PASS	0.701	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			9	16	9	16	---	---	---	---
NLRC3	197358	broad.mit.edu	37	16	3614973	3614973	+	RNA	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr16:3614973G>T	ENST00000301749.7	-	0	470				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.A69D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CACCTGCTCGGCTGGGGAGCC	0.682																																						uc010btn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(64-66)GCC>GAC		NOD3 protein							18.0	23.0	22.0					16																	3614973		1920	4123	6043			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3614973G>T	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614973G>T							p.A22D	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN			4	476	-			22					Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	ENST00000301749.7	37	c.65C>A		.	.	.	.	.	.	.	.	.	.	G	10.83	1.461760	0.26248	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	T;T;T;T	0.79653	-0.57;-0.59;-0.56;-1.29	4.96	4.96	0.65561	.	0.457119	0.21026	N	0.081423	T	0.71273	0.3320	.	.	.	0.09310	N	1	P	0.42827	0.791	B	0.32677	0.15	T	0.68868	-0.5295	9	0.51188	T	0.08	.	15.7634	0.78103	0.0:0.0:1.0:0.0	.	69	C9JLH9	.	D	22;22;22;69;39	ENSP00000301749:A22D;ENSP00000352039:A22D;ENSP00000414415:A69D;ENSP00000323897:A39D	ENSP00000301749:A22D	A	-	2	0	NLRC3	3554974	0.028000	0.19301	0.513000	0.27749	0.545000	0.35147	1.748000	0.38308	2.320000	0.78422	0.650000	0.86243	GCC		PASS	0.682	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		26	16	26	16	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18893616	18893616	+	Silent	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr16:18893616G>A	ENST00000446231.2	-	10	1576	c.1164C>T	c.(1162-1164)gtC>gtT	p.V388V	SMG1_ENST00000565224.1_Silent_p.V362V|SMG1_ENST00000389467.3_Silent_p.V388V			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	388	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V384V(1)|p.V388V(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATGGAGGAGGGACATCTTCAT	0.458																																						uc002dfm.2																			2	Substitution - coding silent(2)		lung(2)	breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(1162-1164)GTC>GTT		PI-3-kinase-related kinase SMG-1							32.0	28.0	30.0					16																	18893616		1877	4094	5971	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18893616G>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.1164C>T	16.37:g.18893616G>A						SMG1_uc010bwb.2_Silent_p.V248V	p.V388V	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			10	1527	-			388			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.1164C>T	CCDS45430.1																																																																																				PASS	0.458	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		12	29	12	29	---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20370847	20370847	+	Silent	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr16:20370847G>A	ENST00000302451.4	-	12	1797	c.1549C>T	c.(1549-1551)Cta>Tta	p.L517L		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	517					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.L517L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TCCTCAGCTAGCACTTCCTCT	0.468																																						uc002dhc.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(1549-1551)CTA>TTA		protein disulfide isomerase-like, testis							154.0	127.0	136.0					16																	20370847		2203	4300	6503	SO:0001819	synonymous_variant	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370847G>A		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1549C>T	16.37:g.20370847G>A							p.L517L	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			12	1772	-			517					Q8IVQ5	Silent	SNP	ENST00000302451.4	37	c.1549C>T	CCDS10584.1																																																																																				PASS	0.468	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		11	122	11	122	---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20396046	20396046	+	Silent	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr16:20396046C>T	ENST00000302451.4	-	3	578	c.330G>A	c.(328-330)caG>caA	p.Q110Q	RP11-429K17.1_ENST00000577173.1_RNA	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	110					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.Q110Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CAAACTCCTGCTGAAGCTCCT	0.517																																						uc002dhc.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(328-330)CAG>CAA		protein disulfide isomerase-like, testis							239.0	236.0	237.0					16																	20396046		2203	4300	6503	SO:0001819	synonymous_variant	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20396046C>T		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.330G>A	16.37:g.20396046C>T							p.Q110Q	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			3	553	-			110					Q8IVQ5	Silent	SNP	ENST00000302451.4	37	c.330G>A	CCDS10584.1																																																																																				PASS	0.517	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		9	381	9	381	---	---	---	---
EARS2	124454	broad.mit.edu	37	16	23535723	23535723	+	Missense_Mutation	SNP	C	C	T	rs558487697		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr16:23535723C>T	ENST00000563459.1	-	9	1547	c.1541G>A	c.(1540-1542)cGg>cAg	p.R514Q	EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000449606.1_Missense_Mutation_p.R514Q			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	514					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)	p.R514Q(1)		central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		GATCCGTTCCCGTACTTCCTT	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		19725	0.001		0.0	False		,,,				2504	0.0					uc002dlt.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1540-1542)CGG>CAG		glutamyl-tRNA synthetase 2 precursor	L-Glutamic Acid(DB00142)						203.0	195.0	198.0					16																	23535723		1981	4165	6146	SO:0001583	missense	124454				glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding	g.chr16:23535723C>T	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.1541G>A	16.37:g.23535723C>T	ENSP00000456467:p.Arg514Gln					EARS2_uc002dlr.3_RNA|EARS2_uc002dls.3_RNA	p.R514Q	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN		GBM - Glioblastoma multiforme(48;0.0353)	9	1573	-			514					B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	ENST00000563459.1	37	c.1541G>A	CCDS42132.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.929813	0.34096	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.44482	0.92	5.69	3.76	0.43208	Aminoacyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class I, anticodon-binding domain, subdomain 2 (1);	0.958388	0.08788	N	0.893706	T	0.39200	0.1069	L	0.51422	1.61	0.21184	N	0.999763	B	0.10296	0.003	B	0.04013	0.001	T	0.30880	-0.9963	10	0.46703	T	0.11	.	9.6399	0.39833	0.0:0.8385:0.0:0.1615	.	514	Q5JPH6	SYEM_HUMAN	Q	514	ENSP00000395196:R514Q	ENSP00000343488:R514Q	R	-	2	0	EARS2	23443224	0.124000	0.22315	0.412000	0.26496	0.785000	0.44390	0.566000	0.23593	0.774000	0.33427	-0.137000	0.14449	CGG		PASS	0.483	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		30	215	30	215	---	---	---	---
CCDC101	112869	broad.mit.edu	37	16	28601690	28601690	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr16:28601690C>T	ENST00000317058.3	+	7	680	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	165	SGF29 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00851}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|SAGA-type complex (GO:0070461)	methylated histone binding (GO:0035064)	p.R165W(1)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						GGTGGCTGCCCGGGTGAAGGC	0.637																																						uc002dqf.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(493-495)CGG>TGG		coiled-coil domain containing 101							34.0	37.0	36.0					16																	28601690		2197	4299	6496	SO:0001583	missense	112869				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding	g.chr16:28601690C>T	AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476			25156	protein-coding gene	gene with protein product	"""SAGA-associated factor 29 homolog (yeast)"""	613374				17334388	Standard	NM_138414		Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.493C>T	16.37:g.28601690C>T	ENSP00000316114:p.Arg165Trp					uc010vct.1_Intron	p.R165W	NM_138414	NP_612423	Q96ES7	SGF29_HUMAN			7	678	+			165			SGF29 C-terminal.		Q96MF5	Missense_Mutation	SNP	ENST00000317058.3	37	c.493C>T	CCDS10635.1	.	.	.	.	.	.	.	.	.	.	.	18.84	3.710093	0.68730	.	.	ENSG00000176476	ENST00000317058	.	.	.	5.25	4.27	0.50696	SGF29 tudor-like domain (2);	0.000000	0.85682	D	0.000000	T	0.69513	0.3119	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	T	0.70547	-0.4842	9	0.52906	T	0.07	.	12.5326	0.56124	0.1739:0.8261:0.0:0.0	.	165	Q96ES7	SGF29_HUMAN	W	165	.	ENSP00000316114:R165W	R	+	1	2	CCDC101	28509191	0.744000	0.28250	0.984000	0.44739	0.986000	0.74619	0.995000	0.29706	1.133000	0.42147	0.655000	0.94253	CGG		PASS	0.637	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254691.1	NM_138414		5	31	5	31	---	---	---	---
VPS35	55737	broad.mit.edu	37	16	46697028	46697028	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr16:46697028T>C	ENST00000299138.7	-	14	1752	c.1694A>G	c.(1693-1695)cAc>cGc	p.H565R	RP11-93O14.2_ENST00000569353.1_RNA	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	565					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)		p.H565R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GATAGTCTGGTGGGCAAATGA	0.358																																						uc002eef.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1693-1695)CAC>CGC		vacuolar protein sorting 35							53.0	52.0	52.0					16																	46697028		2203	4300	6503	SO:0001583	missense	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46697028T>C	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.1694A>G	16.37:g.46697028T>C	ENSP00000299138:p.His565Arg					VPS35_uc002eed.2_Missense_Mutation_p.H386R|VPS35_uc002eee.2_Missense_Mutation_p.H526R	p.H565R	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN			14	1793	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	565					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	c.1694A>G	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	16.50	3.141750	0.57044	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.50277	0.75	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.47135	0.1429	L	0.60904	1.88	0.80722	D	1	B;B	0.33826	0.427;0.132	B;B	0.35240	0.198;0.082	T	0.42666	-0.9438	10	0.33141	T	0.24	-20.7168	15.5157	0.75822	0.0:0.0:0.0:1.0	.	565;430	Q96QK1;F5GYF5	VPS35_HUMAN;.	R	565;430	ENSP00000299138:H565R	ENSP00000299138:H565R	H	-	2	0	VPS35	45254529	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.846000	0.86887	2.066000	0.61787	0.459000	0.35465	CAC		PASS	0.358	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			15	36	15	36	---	---	---	---
USB1	79650	broad.mit.edu	37	16	58054050	58054050	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr16:58054050C>G	ENST00000539737.2	+	6	724	c.645C>G	c.(643-645)atC>atG	p.I215M	USB1_ENST00000219281.3_Missense_Mutation_p.I233M|USB1_ENST00000561743.1_Missense_Mutation_p.I182M	NM_001195302.1	NP_001182231.1			U6 snRNA biogenesis 1									p.I233M(1)									TTAAGGCAATCGTGGATGGGT	0.542																																						uc002emz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(697-699)ATC>ATG		hypothetical protein LOC79650							116.0	92.0	100.0					16																	58054050		2198	4300	6498	SO:0001583	missense	79650							g.chr16:58054050C>G	AK023216	CCDS10791.1, CCDS55997.1, CCDS55998.1	16q13	2014-09-17	2012-08-21	2012-08-21	ENSG00000103005	ENSG00000103005			25792	protein-coding gene	gene with protein product	"""HVSL motif containing 1"", ""poikiloderma with neutropenia"", ""U six biogenesis 1"", ""mutated in poikiloderma with neutropenia protein 1"""	613276	"""chromosome 16 open reading frame 57"""	C16orf57		20004881, 20503306, 22899009	Standard	NM_024598		Approved	FLJ13154, HVSL1, Mpn1	uc002emz.3	Q9BQ65	OTTHUMG00000133456	ENST00000539737.2:c.645C>G	16.37:g.58054050C>G	ENSP00000446143:p.Ile215Met					C16orf57_uc010vib.1_Missense_Mutation_p.I215M	p.I233M	NM_024598	NP_078874	Q9BQ65	CP057_HUMAN			7	782	+			233						Missense_Mutation	SNP	ENST00000539737.2	37	c.699C>G	CCDS55998.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714900	0.30413	.	.	ENSG00000103005	ENST00000219281;ENST00000543731;ENST00000539737	T;T	0.55760	0.5;0.5	5.59	-2.51	0.06365	.	0.370657	0.32204	N	0.006436	T	0.59032	0.2164	L	0.53249	1.67	0.43313	D	0.995325	D;D	0.67145	0.996;0.996	D;D	0.65987	0.938;0.94	T	0.57522	-0.7797	10	0.38643	T	0.18	-27.8592	11.5328	0.50620	0.0:0.4456:0.0:0.5544	.	215;233	B4DZW5;Q9BQ65	.;CP057_HUMAN	M	233;181;215	ENSP00000219281:I233M;ENSP00000446143:I215M	ENSP00000219281:I233M	I	+	3	3	C16orf57	56611551	0.014000	0.17966	0.388000	0.26195	0.150000	0.21749	-1.788000	0.01763	-0.304000	0.08843	-1.079000	0.02226	ATC		PASS	0.542	USB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000429947.1	NM_024598		12	46	12	46	---	---	---	---
CMTM3	123920	broad.mit.edu	37	16	66643809	66643809	+	Silent	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr16:66643809C>A	ENST00000424011.2	+	5	949	c.423C>A	c.(421-423)atC>atA	p.I141I	CMTM3_ENST00000566121.1_Silent_p.I55I|CMTM3_ENST00000565003.1_Silent_p.I55I|CMTM3_ENST00000562707.1_Silent_p.I141I|CMTM3_ENST00000460097.1_Silent_p.I55I|CMTM3_ENST00000360086.4_Intron|CMTM3_ENST00000564060.1_Silent_p.I109I|CMTM3_ENST00000567572.1_Silent_p.I141I|CMTM3_ENST00000565666.1_3'UTR|CMTM3_ENST00000568477.1_Silent_p.I55I|CMTM3_ENST00000361909.4_Silent_p.I141I|CMTM3_ENST00000565922.1_Intron			Q96MX0	CKLF3_HUMAN	CKLF-like MARVEL transmembrane domain containing 3	141	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)|positive regulation of B cell receptor signaling pathway (GO:0050861)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)		p.I141I(1)		central_nervous_system(1)|endometrium(1)|lung(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0671)|Epithelial(162;0.164)		TTGCTACCATCGTGTTTGCAA	0.552																																						uc002epu.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(421-423)ATC>ATA		chemokine-like factor superfamily 3							235.0	176.0	196.0					16																	66643809		2201	4300	6501	SO:0001819	synonymous_variant	123920				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66643809C>A	AK056324	CCDS10815.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140931	ENSG00000140931			19174	protein-coding gene	gene with protein product		607886	"""chemokine-like factor superfamily 3"""	CKLFSF3		15087455	Standard	NM_144601		Approved	FLJ31762, BNAS2	uc002epv.3	Q96MX0	OTTHUMG00000137503	ENST00000424011.2:c.423C>A	16.37:g.66643809C>A						CMTM3_uc002epv.2_Silent_p.I141I|CMTM3_uc002epw.2_Silent_p.I141I|CMTM3_uc002epx.2_Silent_p.I141I|CMTM3_uc002epy.2_RNA	p.I141I	NM_001048251	NP_001041716	Q96MX0	CKLF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0671)|Epithelial(162;0.164)	5	682	+		Ovarian(137;0.0563)	141			MARVEL.|Helical; (Potential).		A6NCL9|Q8IUU8|Q8IWQ6|Q8IYE2|Q8IZ39|Q8IZ59	Silent	SNP	ENST00000424011.2	37	c.423C>A	CCDS10815.1																																																																																				PASS	0.552	CMTM3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268814.2	NM_144601		33	46	33	46	---	---	---	---
CMTM4	146223	broad.mit.edu	37	16	66655990	66655990	+	Missense_Mutation	SNP	G	G	T	rs138396334		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr16:66655990G>T	ENST00000330687.4	-	4	779	c.598C>A	c.(598-600)Cgc>Agc	p.R200S	CMTM4_ENST00000563952.1_Missense_Mutation_p.R171S|CMTM4_ENST00000394106.2_Missense_Mutation_p.R200S	NM_178818.2|NM_181521.2	NP_848933.1|NP_852662.1	Q8IZR5	CKLF4_HUMAN	CKLF-like MARVEL transmembrane domain containing 4	200					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.R200S(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		ATCTCAGGGCGACTGTCCACA	0.592																																						uc002epz.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(598-600)CGC>AGC		chemokine-like factor superfamily 4 isoform 1							57.0	43.0	48.0					16																	66655990		2201	4295	6496	SO:0001583	missense	146223				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66655990G>T	AF479814	CCDS10817.1, CCDS42170.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000183723	ENSG00000183723			19175	protein-coding gene	gene with protein product		607887	"""chemokine-like factor super family 4"", ""chemokine-like factor superfamily 4"""	CKLFSF4		12782130	Standard	NM_178818		Approved		uc002epz.3	Q8IZR5	OTTHUMG00000137500	ENST00000330687.4:c.598C>A	16.37:g.66655990G>T	ENSP00000333833:p.Arg200Ser					CMTM4_uc002eqa.2_Missense_Mutation_p.R200S	p.R200S	NM_178818	NP_848933	Q8IZR5	CKLF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)	4	780	-		Ovarian(137;0.0563)	200					Q52M40|Q8IZR4|Q8IZV1	Missense_Mutation	SNP	ENST00000330687.4	37	c.598C>A	CCDS10817.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100606	0.76983	.	.	ENSG00000183723	ENST00000330687;ENST00000394106	T;T	0.33865	1.39;1.51	6.11	6.11	0.99139	.	0.374014	0.32802	N	0.005630	T	0.39226	0.1070	N	0.19112	0.55	0.80722	D	1	P	0.51653	0.947	P	0.50590	0.645	T	0.17349	-1.0372	10	0.62326	D	0.03	.	20.3293	0.98710	0.0:0.0:1.0:0.0	.	200	Q8IZR5	CKLF4_HUMAN	S	200	ENSP00000333833:R200S;ENSP00000377666:R200S	ENSP00000333833:R200S	R	-	1	0	CMTM4	65213491	0.998000	0.40836	0.833000	0.33012	0.768000	0.43524	4.886000	0.63149	2.906000	0.99361	0.655000	0.94253	CGC		PASS	0.592	CMTM4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268807.1			6	12	6	12	---	---	---	---
TRADD	8717	broad.mit.edu	37	16	67188723	67188723	+	Silent	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr16:67188723G>A	ENST00000345057.4	-	5	1236	c.768C>T	c.(766-768)taC>taT	p.Y256Y	TRADD_ENST00000486556.1_Silent_p.Y196Y|TRADD_ENST00000566104.1_5'Flank	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	256	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.|Interaction with KRT14 and KRT18.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)	p.Y256Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CCTCGCGCTCGTACTCGTAGG	0.726																																						uc002eri.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(766-768)TAC>TAT		TNFRSF1A-associated via death domain							7.0	8.0	8.0					16																	67188723		2171	4233	6404	SO:0001819	synonymous_variant	8717				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity	g.chr16:67188723G>A	L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.768C>T	16.37:g.67188723G>A						TRADD_uc002erh.1_Silent_p.Y196Y	p.Y256Y	NM_003789	NP_003780	Q15628	TRADD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	5	848	-		Ovarian(137;0.0563)	256			Interaction with KRT14 and KRT18.|Death.		B2RDS3|B3KQZ9|Q52NZ1	Silent	SNP	ENST00000345057.4	37	c.768C>T	CCDS10829.1																																																																																				PASS	0.726	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2			3	7	3	7	---	---	---	---
RLTPR	146206	broad.mit.edu	37	16	67685325	67685325	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr16:67685325G>T	ENST00000334583.6	+	24	2663	c.2335G>T	c.(2335-2337)Gct>Tct	p.A779S	RLTPR_ENST00000545661.1_Missense_Mutation_p.A743S	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	779					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)		p.A819S(1)|p.A779S(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TCTATATGAAGCTGGAAGCTC	0.582																																						uc002etn.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(2335-2337)GCT>TCT		RGD motif, leucine rich repeats, tropomodulin							41.0	42.0	42.0					16																	67685325		1972	4138	6110	SO:0001583	missense	146206							g.chr16:67685325G>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2335G>T	16.37:g.67685325G>T	ENSP00000334958:p.Ala779Ser					RLTPR_uc010cel.1_Missense_Mutation_p.A772S|RLTPR_uc010vjr.1_Missense_Mutation_p.A743S|RLTPR_uc010vjs.1_5'Flank	p.A779S	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	24	2455	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	779					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.2335G>T	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282397	0.80692	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.15603	2.41;2.42	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000001	T	0.37679	0.1012	L	0.56769	1.78	0.40263	D	0.978206	D;D	0.69078	0.997;0.979	D;P	0.75020	0.985;0.673	T	0.02789	-1.1110	10	0.35671	T	0.21	-9.5731	16.0979	0.81139	0.0:0.0:1.0:0.0	.	743;779	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	S	779;743	ENSP00000334958:A779S;ENSP00000441481:A743S	ENSP00000334958:A779S	A	+	1	0	RLTPR	66242826	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.037000	0.57311	2.579000	0.87056	0.655000	0.94253	GCT		PASS	0.582	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		4	25	4	25	---	---	---	---
NFATC3	4775	broad.mit.edu	37	16	68156136	68156136	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr16:68156136C>G	ENST00000346183.3	+	2	374	c.350C>G	c.(349-351)tCt>tGt	p.S117C	NFATC3_ENST00000575270.1_Missense_Mutation_p.S117C|NFATC3_ENST00000329524.4_Missense_Mutation_p.S117C|NFATC3_ENST00000349223.5_Missense_Mutation_p.S117C|RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000535127.2_3'UTR	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	117					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S117C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		ACATCTATCTCTCCTAACTGT	0.383																																						uc002evo.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3						c.(349-351)TCT>TGT		nuclear factor of activated T-cells,							82.0	78.0	79.0					16																	68156136		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68156136C>G	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.350C>G	16.37:g.68156136C>G	ENSP00000300659:p.Ser117Cys					NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.S117C|NFATC3_uc002evm.1_Missense_Mutation_p.S117C|NFATC3_uc002evn.1_Missense_Mutation_p.S117C|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR	p.S117C	NM_173165	NP_775188	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	2	560	+		Ovarian(137;0.0563)	117					O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.350C>G	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938668	0.73557	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.11169	2.8;2.8;2.8	5.41	5.41	0.78517	.	0.051226	0.85682	D	0.000000	T	0.36082	0.0954	M	0.75264	2.295	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.986;0.995;0.995	T	0.03784	-1.1004	10	0.59425	D	0.04	-16.0484	19.5611	0.95373	0.0:1.0:0.0:0.0	.	117;117;117;117	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	C	117	ENSP00000264008:S117C;ENSP00000300659:S117C;ENSP00000331324:S117C	ENSP00000331324:S117C	S	+	2	0	NFATC3	66713637	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.445000	0.80570	2.700000	0.92200	0.467000	0.42956	TCT		PASS	0.383	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		18	74	18	74	---	---	---	---
IL34	146433	broad.mit.edu	37	16	70688511	70688511	+	Silent	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr16:70688511G>A	ENST00000288098.2	+	2	482	c.99G>A	c.(97-99)gaG>gaA	p.E33E	IL34_ENST00000566361.1_Silent_p.E8E|IL34_ENST00000569641.1_Intron|IL34_ENST00000429149.2_Silent_p.E33E	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	33					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)	p.E33E(1)		breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						CGCAGAATGAGGAGTGCACTG	0.577											OREG0023916	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ezh.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(97-99)GAG>GAA		interleukin 34 precursor							309.0	219.0	249.0					16																	70688511		2198	4300	6498	SO:0001819	synonymous_variant	146433				positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	g.chr16:70688511G>A	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"""Interleukins and interleukin receptors"""	28529	protein-coding gene	gene with protein product		612081	"""chromosome 16 open reading frame 77"""	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.99G>A	16.37:g.70688511G>A			OREG0023916	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1124	IL34_uc002ezi.1_Silent_p.E33E	p.E33E	NM_152456	NP_689669	Q6ZMJ4	IL34_HUMAN			2	482	+			33					B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Silent	SNP	ENST00000288098.2	37	c.99G>A	CCDS10895.1																																																																																				PASS	0.577	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456		39	69	39	69	---	---	---	---
PHLPP2	23035	broad.mit.edu	37	16	71715746	71715746	+	Silent	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr16:71715746C>T	ENST00000568954.1	-	6	1176	c.798G>A	c.(796-798)gaG>gaA	p.E266E	PHLPP2_ENST00000356272.3_Silent_p.E266E|PHLPP2_ENST00000567016.1_Silent_p.E301E|PHLPP2_ENST00000393524.2_Silent_p.E266E|PHLPP2_ENST00000360429.3_Silent_p.E266E			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	266					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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.E266E(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AGAAGAGATGCTCAGGAACCT	0.473																																						uc002fax.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(796-798)GAG>GAA		PH domain and leucine rich repeat protein							135.0	125.0	129.0					16																	71715746		2198	4300	6498	SO:0001819	synonymous_variant	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71715746C>T	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.798G>A	16.37:g.71715746C>T						PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Silent_p.E266E|PHLPP2_uc002fay.1_Silent_p.E266E	p.E266E	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN			5	804	-			266			LRR 1.		A1L374|Q9NV17|Q9Y2E3	Silent	SNP	ENST00000568954.1	37	c.798G>A	CCDS32479.1																																																																																				PASS	0.473	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		58	86	58	86	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs369119448|rs112443847		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	ZFHX3_ENST00000397992.5_Silent_p.G2605G|RP5-991G20.4_ENST00000569195.1_RNA|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716																																						uc002fck.2																			3	Substitution - coding silent(3)		lung(2)|prostate(1)	ovary(2)|skin(2)	4						c.(10555-10557)GGT>GGC		zinc finger homeobox 3 isoform A							9.0	13.0	11.0					16																	72821618		1463	3169	4632	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821618A>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10557T>C	16.37:g.72821618A>G						uc002fcj.1_RNA|ZFHX3_uc002fcl.2_Silent_p.G2605G	p.G3519G	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			10	11230	-		Ovarian(137;0.13)	3519			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10557T>C	CCDS10908.1																																																																																				PASS	0.716	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		3	18	3	18	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72829353	72829353	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr16:72829353T>C	ENST00000268489.5	-	9	7900	c.7228A>G	c.(7228-7230)Aca>Gca	p.T2410A	ZFHX3_ENST00000397992.5_Missense_Mutation_p.T1496A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2410					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.T2410A(1)|p.T2410S(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCCTCCGCTGTAAGCTGCAAG	0.557																																						uc002fck.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(7228-7230)ACA>GCA		zinc finger homeobox 3 isoform A							79.0	75.0	77.0					16																	72829353		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72829353T>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7228A>G	16.37:g.72829353T>C	ENSP00000268489:p.Thr2410Ala					ZFHX3_uc002fcl.2_Missense_Mutation_p.T1496A	p.T2410A	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			9	7901	-		Ovarian(137;0.13)	2410					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.7228A>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	3.023	-0.201299	0.06219	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73047	-0.71;-0.7	5.45	3.12	0.35913	.	0.123055	0.36134	N	0.002766	T	0.41811	0.1175	N	0.04508	-0.205	0.34219	D	0.675218	B	0.02656	0.0	B	0.04013	0.001	T	0.37079	-0.9721	10	0.08599	T	0.76	.	8.6546	0.34055	0.1284:0.0:0.1348:0.7368	.	2410	Q15911	ZFHX3_HUMAN	A	2410;1496	ENSP00000268489:T2410A;ENSP00000438926:T1496A	ENSP00000268489:T2410A	T	-	1	0	ZFHX3	71386854	0.975000	0.34042	0.032000	0.17829	0.493000	0.33554	0.797000	0.26999	0.325000	0.23359	0.459000	0.35465	ACA		PASS	0.557	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		22	100	22	100	---	---	---	---
TRPV1	7442	broad.mit.edu	37	17	3493612	3493612	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr17:3493612C>T	ENST00000571088.1	-	5	892	c.679G>A	c.(679-681)Gac>Aac	p.D227N	TRPV1_ENST00000425167.2_Missense_Mutation_p.D227N|TRPV1_ENST00000174621.6_Missense_Mutation_p.D225N|TRPV1_ENST00000399759.3_Missense_Mutation_p.D227N|SHPK_ENST00000572705.1_Missense_Mutation_p.D227N|TRPV1_ENST00000576351.1_Missense_Mutation_p.D227N|TRPV1_ENST00000310522.5_Missense_Mutation_p.D227N|TRPV1_ENST00000399756.4_Missense_Mutation_p.D227N	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	227					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)	p.D227N(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GCCTGGACGTCTGCTCCGTTC	0.582																																					Melanoma(38;962 1762 15789)	uc010vrr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(679-681)GAC>AAC		transient receptor potential cation channel,	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						72.0	78.0	76.0					17																	3493612		2123	4238	6361	SO:0001583	missense	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3493612C>T	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.679G>A	17.37:g.3493612C>T	ENSP00000461007:p.Asp227Asn					TRPV1_uc010vro.1_Missense_Mutation_p.D227N|TRPV1_uc010vrp.1_Missense_Mutation_p.D227N|TRPV1_uc010vrq.1_Missense_Mutation_p.D225N|TRPV1_uc010vrs.1_Missense_Mutation_p.D227N|TRPV1_uc010vrt.1_Missense_Mutation_p.D227N|TRPV1_uc010vru.1_Missense_Mutation_p.D227N	p.D227N	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	4	1206	-			227			ANK 3.|Cytoplasmic (Potential).		A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	c.679G>A	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.737715	0.49045	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.32;-0.32	5.29	4.32	0.51571	Ankyrin repeat-containing domain (4);	0.043354	0.85682	N	0.000000	T	0.68146	0.2969	L	0.31526	0.94	0.58432	D	0.999999	B;B;P;B	0.46784	0.149;0.194;0.884;0.114	B;B;P;B	0.46389	0.197;0.233;0.515;0.081	T	0.69165	-0.5217	10	0.44086	T	0.13	-15.9875	13.3916	0.60827	0.0:0.9238:0.0:0.0762	.	227;225;227;227	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	N	227;227;225;227;227	ENSP00000382661:D227N;ENSP00000382659:D227N;ENSP00000174621:D225N;ENSP00000409627:D227N;ENSP00000311692:D227N	ENSP00000174621:D225N	D	-	1	0	TRPV1	3440361	0.974000	0.33945	0.998000	0.56505	0.498000	0.33706	2.375000	0.44283	1.374000	0.46228	0.591000	0.81541	GAC		PASS	0.582	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		22	27	22	27	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578525	7578525	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr17:7578525G>C	ENST00000269305.4	-	5	594	c.405C>G	c.(403-405)tgC>tgG	p.C135W	TP53_ENST00000455263.2_Missense_Mutation_p.C135W|TP53_ENST00000420246.2_Missense_Mutation_p.C135W|TP53_ENST00000445888.2_Missense_Mutation_p.C135W|TP53_ENST00000413465.2_Missense_Mutation_p.C135W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.C135W	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	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		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.C135W(24)|p.0?(8)|p.C135*(7)|p.C135C(5)|p.C135fs*9(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C3W(1)|p.C42W(1)|p.C135_T140delCQLAKT(1)|p.Q136*(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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)	TGGCCAGTTGGCAAAACATCT	0.567		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		68	Substitution - Missense(27)|Deletion - Frameshift(9)|Substitution - Nonsense(8)|Whole gene deletion(8)|Substitution - coding silent(5)|Deletion - In frame(4)|Insertion - Frameshift(4)|Insertion - In frame(2)|Complex - deletion inframe(1)	p.C135Y(49)|p.C135F(34)|p.C135W(19)|p.C135S(10)|p.C135fs*35(9)|p.0?(7)|p.C135*(7)|p.C135G(6)|p.C135R(6)|p.C135C(5)|p.C135fs*14(2)|p.N131fs*27(2)|p.Q136fs*13(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*36(1)|p.C135fs*15(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.C135_T140delCQLAKT(1)|p.Q136*(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)	urinary_tract(11)|lung(8)|breast(7)|central_nervous_system(6)|oesophagus(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|stomach(2)|skin(2)|prostate(2)|thyroid(1)|liver(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.(403-405)TGC>TGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							51.0	51.0	51.0					17																	7578525		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.chr17:7578525G>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.405C>G	17.37:g.7578525G>C	ENSP00000269305:p.Cys135Trp	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.C135W|TP53_uc002gih.2_Missense_Mutation_p.C135W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C3W|TP53_uc010cng.1_Missense_Mutation_p.C3W|TP53_uc002gii.1_Missense_Mutation_p.C3W|TP53_uc010cnh.1_Missense_Mutation_p.C135W|TP53_uc010cni.1_Missense_Mutation_p.C135W|TP53_uc002gij.2_Missense_Mutation_p.C135W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C42W|TP53_uc002gio.2_Missense_Mutation_p.C3W|TP53_uc010vug.1_Missense_Mutation_p.C96W	p.C135W	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	599	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	135		C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> F (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.405C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337657	0.60963	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99801	-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81	5.48	3.5	0.40072	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	0.99691	0.9883	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.99;1.0;1.0;1.0;1.0	D	0.98316	1.0526	10	0.72032	D	0.01	-26.815	10.0222	0.42051	0.1647:0.0:0.8353:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	W	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135W;ENSP00000352610:C135W;ENSP00000269305:C135W;ENSP00000398846:C135W;ENSP00000391127:C135W;ENSP00000391478:C135W;ENSP00000425104:C3W;ENSP00000423862:C42W;ENSP00000424104:C135W	ENSP00000269305:C135W	C	-	3	2	TP53	7519250	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	0.645000	0.24782	0.798000	0.33994	0.655000	0.94253	TGC		PASS	0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	23	15	23	---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7750709	7750709	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr17:7750709G>C	ENST00000448097.2	+	10	1527	c.1196G>C	c.(1195-1197)aGc>aCc	p.S399T	KDM6B_ENST00000254846.5_Missense_Mutation_p.S399T			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	399	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.S399T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACCACCACcagcagcagcagt	0.672																																						uc002giw.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(1195-1197)AGC>ACC		lysine (K)-specific demethylase 6B							45.0	54.0	51.0					17																	7750709		2203	4300	6503	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7750709G>C	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.1196G>C	17.37:g.7750709G>C	ENSP00000412513:p.Ser399Thr					KDM6B_uc002gix.2_5'Flank	p.S399T	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN			10	1572	+			399			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.1196G>C		.	.	.	.	.	.	.	.	.	.	G	4.000	-0.002662	0.07819	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.08458	3.09;3.09	2.79	0.726	0.18248	.	0.509864	0.16624	N	0.206341	T	0.03434	0.0099	N	0.08118	0	0.20196	N	0.999927	B	0.11235	0.004	B	0.13407	0.009	T	0.45205	-0.9277	10	0.05351	T	0.99	-5.8581	10.8708	0.46883	0.0:0.4056:0.5944:0.0	.	399	O15054-1	.	T	399	ENSP00000254846:S399T;ENSP00000412513:S399T	ENSP00000254846:S399T	S	+	2	0	KDM6B	7691434	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.396000	0.34531	0.250000	0.21479	-0.234000	0.12200	AGC		PASS	0.672	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		10	63	10	63	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11725895	11725895	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr17:11725895G>C	ENST00000262442.4	+	47	9059	c.8991G>C	c.(8989-8991)ttG>ttC	p.L2997F	DNAH9_ENST00000454412.2_Missense_Mutation_p.L2997F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2997	AAA 4. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L2997F(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCGCTTCTTGCAGAACACAG	0.527																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(8989-8991)TTG>TTC		dynein, axonemal, heavy chain 9 isoform 2							111.0	108.0	109.0					17																	11725895		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11725895G>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8991G>C	17.37:g.11725895G>C	ENSP00000262442:p.Leu2997Phe					DNAH9_uc010coo.2_Missense_Mutation_p.L2291F	p.L2997F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	47	9059	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2997			AAA 4 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.8991G>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670664	0.47781	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.58358	0.34;0.34	3.68	2.59	0.31030	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.64402	D	0.000020	T	0.66557	0.2801	M	0.89658	3.05	0.80722	D	1	P	0.36712	0.566	P	0.49853	0.624	T	0.66893	-0.5808	10	0.87932	D	0	.	5.4551	0.16586	0.1559:0.0:0.6622:0.1819	.	2997	Q9NYC9	DYH9_HUMAN	F	2997;2997;1579	ENSP00000262442:L2997F;ENSP00000414874:L2997F	ENSP00000262442:L2997F	L	+	3	2	DNAH9	11666620	0.858000	0.29795	1.000000	0.80357	0.819000	0.46315	-0.097000	0.11042	0.678000	0.31325	0.563000	0.77884	TTG		PASS	0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		47	63	47	63	---	---	---	---
ZNF624	57547	broad.mit.edu	37	17	16526311	16526311	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr17:16526311T>C	ENST00000311331.7	-	6	1980	c.1889A>G	c.(1888-1890)cAt>cGt	p.H630R		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	630					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.H630R(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AATTTTCTGATGCTCCTTGAG	0.383																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1888-1890)CAT>CGT		zinc finger protein 624							137.0	145.0	142.0					17																	16526311		2203	4299	6502	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16526311T>C	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.1889A>G	17.37:g.16526311T>C	ENSP00000310472:p.His630Arg						p.H630R	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	1972	-			630			C2H2-type 13.		Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.1889A>G	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.808639	0.50421	.	.	ENSG00000197566	ENST00000311331	D	0.86865	-2.18	2.98	2.98	0.34508	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94758	0.8308	H	0.96333	3.805	0.37022	D	0.896271	D	0.89917	1.0	D	0.91635	0.999	D	0.95795	0.8828	9	0.87932	D	0	.	9.7703	0.40585	0.0:0.0:0.0:1.0	.	630	Q9P2J8	ZN624_HUMAN	R	630	ENSP00000310472:H630R	ENSP00000310472:H630R	H	-	2	0	ZNF624	16467036	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.372000	0.79612	1.608000	0.50180	0.529000	0.55759	CAT		PASS	0.383	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		6	185	6	185	---	---	---	---
ZNF624	57547	broad.mit.edu	37	17	16527678	16527678	+	Silent	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr17:16527678C>T	ENST00000311331.7	-	6	613	c.522G>A	c.(520-522)agG>agA	p.R174R		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	174					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.R174R(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATCTCAATATCCTATCATTCC	0.363																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(520-522)AGG>AGA		zinc finger protein 624							103.0	101.0	102.0					17																	16527678		2203	4300	6503	SO:0001819	synonymous_variant	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16527678C>T	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.522G>A	17.37:g.16527678C>T							p.R174R	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	605	-			174					Q3SY62|Q3SY63|Q6ZN27	Silent	SNP	ENST00000311331.7	37	c.522G>A	CCDS11180.1																																																																																				PASS	0.363	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		44	48	44	48	---	---	---	---
HEATR9	256957	broad.mit.edu	37	17	34185239	34185239	+	Missense_Mutation	SNP	G	G	T	rs369342927		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr17:34185239G>T	ENST00000311880.2	-	11	1265	c.1117C>A	c.(1117-1119)Ctg>Atg	p.L373M	C17orf66_ENST00000592980.1_Missense_Mutation_p.L333M	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		373					hematopoietic progenitor cell differentiation (GO:0002244)			p.L373M(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CTCCTGAGCAGGTTAAATGTG	0.527																																						uc002hke.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|skin(1)	3						c.(1117-1119)CTG>ATG		hypothetical protein LOC256957							236.0	225.0	229.0					17																	34185239		2203	4300	6503	SO:0001583	missense	256957						binding	g.chr17:34185239G>T																												ENST00000311880.2:c.1117C>A	17.37:g.34185239G>T	ENSP00000309560:p.Leu373Met					C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.L333M|C17orf66_uc010wcm.1_Missense_Mutation_p.L339M	p.L373M	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	11	1266	-		Ovarian(249;0.17)	373					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	c.1117C>A	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407870	0.25378	.	.	ENSG00000172653	ENST00000311880	T	0.56941	0.43	3.6	-1.51	0.08664	Armadillo-like helical (1);Armadillo-type fold (1);	0.623174	0.12412	N	0.471163	T	0.52435	0.1734	L	0.32530	0.975	0.23063	N	0.998359	D;D;D	0.76494	0.994;0.999;0.999	P;D;D	0.75484	0.894;0.964;0.986	T	0.41197	-0.9522	10	0.52906	T	0.07	.	3.0899	0.06290	0.222:0.0:0.4185:0.3596	.	339;333;373	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	M	373	ENSP00000309560:L373M	ENSP00000309560:L373M	L	-	1	2	C17orf66	31209352	0.712000	0.27916	0.702000	0.30337	0.371000	0.29859	0.425000	0.21346	-0.341000	0.08376	0.305000	0.20034	CTG		PASS	0.527	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			68	226	68	226	---	---	---	---
PLEKHM1	9842	broad.mit.edu	37	17	43552993	43552993	+	Missense_Mutation	SNP	C	C	A	rs377434957		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr17:43552993C>A	ENST00000430334.3	-	4	529	c.396G>T	c.(394-396)gaG>gaT	p.E132D	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.E43D	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	132	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)	p.E132D(1)		breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TCAGGTAGCACTCCATCAGGC	0.622																																						uc002ija.2																			1	Substitution - Missense(1)		lung(1)		0						c.(394-396)GAG>GAT		pleckstrin homology domain containing, family M							24.0	25.0	24.0					17																	43552993		2202	4300	6502	SO:0001583	missense	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43552993C>A	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.396G>T	17.37:g.43552993C>A	ENSP00000389913:p.Glu132Asp					PLEKHM1_uc010wjm.1_Missense_Mutation_p.E104D|PLEKHM1_uc002ijb.2_5'UTR|PLEKHM1_uc010wjn.1_Missense_Mutation_p.E81D|hsa-mir-4315-1|MI0015844_5'Flank	p.E132D	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN			4	566	-	Renal(3;0.0405)		132			RUN.		Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	c.396G>T	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165035	0.38217	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.11930	2.73;2.73	5.03	0.552	0.17230	RUN (3);	0.000000	0.85682	D	0.000000	T	0.26521	0.0648	L	0.53617	1.68	0.42234	D	0.991905	D;D	0.89917	0.999;1.0	D;D	0.77004	0.958;0.989	T	0.01152	-1.1435	10	0.59425	D	0.04	.	8.9364	0.35702	0.0:0.6045:0.0:0.3955	.	43;132	F8W648;Q9Y4G2	.;PKHM1_HUMAN	D	132;81;43	ENSP00000389913:E132D;ENSP00000414352:E43D	ENSP00000414352:E43D	E	-	3	2	PLEKHM1	40908776	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.478000	0.35442	0.253000	0.21552	0.655000	0.94253	GAG		PASS	0.622	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		4	44	4	44	---	---	---	---
ITGA3	3675	broad.mit.edu	37	17	48165193	48165193	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr17:48165193G>T	ENST00000320031.8	+	24	3335	c.3005G>T	c.(3004-3006)gGg>gTg	p.G1002V	ITGA3_ENST00000007722.7_Missense_Mutation_p.G1002V	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	1002					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)	p.G1002V(2)		endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GTGGGTGCAGGGCTGCTGCTG	0.647																																						uc010dbl.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(3004-3006)GGG>GTG		integrin alpha 3 isoform a precursor							51.0	52.0	52.0					17																	48165193		2203	4300	6503	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48165193G>T	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.3005G>T	17.37:g.48165193G>T	ENSP00000315190:p.Gly1002Val					ITGA3_uc010dbm.2_Missense_Mutation_p.G1002V	p.G1002V	NM_002204	NP_002195	P26006	ITA3_HUMAN			24	3469	+			1002			Helical; (Potential).		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.3005G>T	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471811	0.84533	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.60672	0.17;0.17	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.81621	0.4861	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86801	0.1992	10	0.87932	D	0	.	16.7594	0.85507	0.0:0.0:1.0:0.0	.	1002;1002	P26006-1;P26006	.;ITA3_HUMAN	V	1002;988;1002	ENSP00000007722:G1002V;ENSP00000315190:G1002V	ENSP00000007722:G1002V	G	+	2	0	ITGA3	45520192	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	6.923000	0.75817	2.314000	0.78098	0.455000	0.32223	GGG		PASS	0.647	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		14	14	14	14	---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48695256	48695256	+	Missense_Mutation	SNP	C	C	T	rs369515451		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr17:48695256C>T	ENST00000359106.5	+	30	5192	c.5192C>T	c.(5191-5193)gCg>gTg	p.A1731V	CACNA1G_ENST00000358244.5_Missense_Mutation_p.A1697V|CACNA1G_ENST00000352832.5_Missense_Mutation_p.A1697V|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A1708V|CACNA1G_ENST00000513689.2_Missense_Mutation_p.A1686V|CACNA1G_ENST00000507510.2_Missense_Mutation_p.A1731V|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A1731V|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A1697V|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A1679V|CACNA1G_ENST00000503485.1_Missense_Mutation_p.A1697V|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A1686V|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A1713V|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A1713V|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A1708V|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A1720V|CACNA1G_ENST00000515411.1_Missense_Mutation_p.A1713V|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A1720V|CACNA1G_ENST00000514079.1_Missense_Mutation_p.A1738V|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A1674V|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A1697V|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A1720V|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A1731V|CACNA1G_ENST00000515765.1_Missense_Mutation_p.A1720V|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A1690V|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A1731V	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1731					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.A1731V(2)|p.A1697V(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGCATGCGGGCGCTGCTGGAC	0.652																																						uc002irk.1																			3	Substitution - Missense(3)		lung(3)	breast(1)	1						c.(5191-5193)GCG>GTG		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4058		0,0,2029	49.0	53.0	52.0		5192,5090,5123,5159,5090,5159,5123,5123,5192,5192,5138,5090,5069,5090	4.1	1.0	17		52	1,8375		0,1,4187	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	CACNA1G	NM_018896.3,NM_198376.1,NM_198377.1,NM_198378.1,NM_198379.1,NM_198380.1,NM_198382.1,NM_198383.1,NM_198384.1,NM_198385.1,NM_198386.1,NM_198387.1,NM_198388.1,NM_198396.1	64,64,64,64,64,64,64,64,64,64,64,64,64,64	0,1,6216	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1731/2378,1697/2172,1708/2355,1720/2274,1697/2299,1720/2322,1708/2262,1708/2307,1731/2285,1731/2333,1713/2267,1697/2251,1690/2244,1697/2344	48695256	1,12433	2029	4188	6217	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48695256C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5192C>T	17.37:g.48695256C>T	ENSP00000352011:p.Ala1731Val					CACNA1G_uc002irj.1_Missense_Mutation_p.A1697V|CACNA1G_uc002irl.1_Missense_Mutation_p.A1708V|CACNA1G_uc002irm.1_Missense_Mutation_p.A1697V|CACNA1G_uc002irn.1_Missense_Mutation_p.A1690V|CACNA1G_uc002iro.1_Missense_Mutation_p.A1697V|CACNA1G_uc002irp.1_Missense_Mutation_p.A1731V|CACNA1G_uc002irq.1_Missense_Mutation_p.A1708V|CACNA1G_uc002irr.1_Missense_Mutation_p.A1731V|CACNA1G_uc002irs.1_Missense_Mutation_p.A1720V|CACNA1G_uc002irt.1_Missense_Mutation_p.A1713V|CACNA1G_uc002irv.1_Missense_Mutation_p.A1720V|CACNA1G_uc002irw.1_Missense_Mutation_p.A1708V|CACNA1G_uc002iru.1_Missense_Mutation_p.A1697V|CACNA1G_uc002irx.1_Missense_Mutation_p.A1644V|CACNA1G_uc002iry.1_Missense_Mutation_p.A1633V|CACNA1G_uc002irz.1_Missense_Mutation_p.A1644V|CACNA1G_uc002isa.1_Missense_Mutation_p.A1610V|CACNA1G_uc002isb.1_Missense_Mutation_p.A1651V|CACNA1G_uc002isc.1_Missense_Mutation_p.A1633V|CACNA1G_uc002isd.1_Missense_Mutation_p.A1626V|CACNA1G_uc002ise.1_Missense_Mutation_p.A1599V|CACNA1G_uc002isf.1_Missense_Mutation_p.A1626V|CACNA1G_uc002isg.1_Missense_Mutation_p.A1592V|CACNA1G_uc002ish.1_Missense_Mutation_p.A1599V|CACNA1G_uc002isi.1_Missense_Mutation_p.A1587V	p.A1731V	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		30	5564	+	Breast(11;6.7e-17)		1731			IV.|Helical; Name=S4 of repeat IV; (Potential).		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.5192C>T	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	25.0	4.591938	0.86953	0.0	1.19E-4	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89	5.08	4.1	0.47936	Ion transport (1);	0.052310	0.85682	N	0.000000	D	0.97698	0.9245	N	0.25825	0.765	0.80722	D	1	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P	0.89917	0.855;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.996;1.0;1.0;1.0;0.999;1.0;0.999;1.0;1.0;1.0;0.997;1.0;0.998;0.482	P;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;D;D;D;B	0.97110	0.732;0.997;0.998;0.997;0.999;0.998;0.997;0.999;0.997;0.997;0.999;0.884;0.995;0.999;0.998;0.955;0.992;0.924;0.999;1.0;0.993;0.929;0.999;0.937;0.076	D	0.98446	1.0589	10	0.87932	D	0	.	13.4131	0.60954	0.0:0.924:0.0:0.076	.	1674;1686;1679;1713;1686;1713;1738;1697;1731;1720;1731;1708;1720;1720;1713;1720;1731;1708;1731;1697;1690;1697;1708;1731;1697	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	V	1708;1697;1697;1690;1708;1720;1686;1674;1679;1697;1731;1720;1686;1731;1697;1731;1713;1720;1738;1697;1731;1713;1713;1731;1720	ENSP00000353990:A1708V;ENSP00000339302:A1697V;ENSP00000347078:A1697V;ENSP00000409759:A1690V;ENSP00000425522:A1708V;ENSP00000426261:A1720V;ENSP00000425451:A1686V;ENSP00000422407:A1674V;ENSP00000426814:A1679V;ENSP00000427238:A1697V;ENSP00000423112:A1731V;ENSP00000420918:A1720V;ENSP00000426172:A1686V;ENSP00000423045:A1731V;ENSP00000427173:A1697V;ENSP00000426098:A1731V;ENSP00000425698:A1713V;ENSP00000426232:A1720V;ENSP00000423317:A1738V;ENSP00000350979:A1697V;ENSP00000352011:A1731V;ENSP00000414388:A1713V;ENSP00000423155:A1713V;ENSP00000422268:A1731V;ENSP00000421518:A1720V	ENSP00000339302:A1697V	A	+	2	0	CACNA1G	46050255	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.818000	0.86416	1.132000	0.42129	0.655000	0.94253	GCG		PASS	0.652	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		9	101	9	101	---	---	---	---
EPX	8288	broad.mit.edu	37	17	56280656	56280656	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr17:56280656C>G	ENST00000225371.5	+	11	2033	c.1923C>G	c.(1921-1923)ttC>ttG	p.F641L		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	641					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.F641L(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	AGAACCAGTTCAGAAGAGCCC	0.512																																						uc002ivq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1921-1923)TTC>TTG		eosinophil peroxidase preproprotein							47.0	51.0	50.0					17																	56280656		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56280656C>G	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1923C>G	17.37:g.56280656C>G	ENSP00000225371:p.Phe641Leu						p.F641L	NM_000502	NP_000493	P11678	PERE_HUMAN			11	2009	+			641					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.1923C>G	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958265	0.73902	.	.	ENSG00000121053	ENST00000225371	T	0.73897	-0.79	5.7	-1.2	0.09554	.	0.000000	0.85682	D	0.000000	D	0.84955	0.5587	M	0.89287	3.02	0.45150	D	0.998161	D	0.89917	1.0	D	0.91635	0.999	D	0.83886	0.0282	10	0.66056	D	0.02	-17.0469	9.9975	0.41909	0.0:0.4696:0.0:0.5304	.	641	P11678	PERE_HUMAN	L	641	ENSP00000225371:F641L	ENSP00000225371:F641L	F	+	3	2	EPX	53635655	0.108000	0.22018	0.305000	0.25099	0.987000	0.75469	0.665000	0.25083	-0.164000	0.10927	-0.136000	0.14681	TTC		PASS	0.512	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		25	45	25	45	---	---	---	---
TEX14	56155	broad.mit.edu	37	17	56682439	56682439	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr17:56682439C>A	ENST00000240361.8	-	11	1339	c.1254G>T	c.(1252-1254)caG>caT	p.Q418H	TEX14_ENST00000349033.5_Missense_Mutation_p.Q412H|TEX14_ENST00000389934.3_Missense_Mutation_p.Q412H			Q8IWB6	TEX14_HUMAN	testis expressed 14	418	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.Q418H(1)|p.Q412H(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGTTGTATAGCTGCGTAGGAA	0.493																																						uc010dcz.1																			2	Substitution - Missense(2)		lung(2)	stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.(1252-1254)CAG>CAT		testis expressed sequence 14 isoform a							139.0	114.0	123.0					17																	56682439		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56682439C>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1254G>T	17.37:g.56682439C>A	ENSP00000240361:p.Gln418His					TEX14_uc002iwr.1_Missense_Mutation_p.Q412H|TEX14_uc002iws.1_Missense_Mutation_p.Q412H|TEX14_uc010dda.1_Missense_Mutation_p.Q192H	p.Q418H	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			11	1372	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		418			Protein kinase.		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.1254G>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.068196	0.55539	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.79653	-1.29;-1.29;-1.25	5.5	0.744	0.18353	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.282654	0.30584	N	0.009309	T	0.77322	0.4113	L	0.50333	1.59	0.23542	N	0.997459	B;P;P	0.40638	0.038;0.725;0.725	B;P;P	0.49276	0.098;0.605;0.605	T	0.67469	-0.5663	10	0.56958	D	0.05	-7.6643	4.892	0.13731	0.1429:0.4745:0.0:0.3827	.	418;412;412	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	H	418;412;412	ENSP00000240361:Q418H;ENSP00000374584:Q412H;ENSP00000268910:Q412H	ENSP00000240361:Q418H	Q	-	3	2	TEX14	54037438	1.000000	0.71417	0.992000	0.48379	0.765000	0.43378	1.117000	0.31234	0.294000	0.22547	0.555000	0.69702	CAG		PASS	0.493	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			10	54	10	54	---	---	---	---
TBC1D16	125058	broad.mit.edu	37	17	77923604	77923604	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr17:77923604G>A	ENST00000310924.2	-	7	1433	c.1318C>T	c.(1318-1320)Cgc>Tgc	p.R440C	TBC1D16_ENST00000340848.7_Missense_Mutation_p.R78C|TBC1D16_ENST00000576768.1_Missense_Mutation_p.R65C|TBC1D16_ENST00000572862.1_Missense_Mutation_p.R78C|TBC1D16_ENST00000570373.1_Missense_Mutation_p.R79C	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	440	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)	p.R440C(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CTGTAATAGCGCAGCAGGAAG	0.587																																					Ovarian(14;397 562 4850 31922 49378)	uc002jxj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1318-1320)CGC>TGC		TBC1 domain family, member 16							47.0	52.0	50.0					17																	77923604		2202	4300	6502	SO:0001583	missense	125058					intracellular	Rab GTPase activator activity	g.chr17:77923604G>A	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1318C>T	17.37:g.77923604G>A	ENSP00000309794:p.Arg440Cys					TBC1D16_uc002jxh.2_Missense_Mutation_p.R78C|TBC1D16_uc002jxi.2_Missense_Mutation_p.R65C|TBC1D16_uc002jxk.1_Missense_Mutation_p.R78C	p.R440C	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		7	1434	-	all_neural(118;0.167)		440			Rab-GAP TBC.		B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	ENST00000310924.2	37	c.1318C>T	CCDS11766.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143298	0.77888	.	.	ENSG00000167291	ENST00000340848;ENST00000310924	T;T	0.04360	3.64;3.64	4.49	4.49	0.54785	Rab-GAP/TBC domain (4);	0.296745	0.37393	N	0.002101	T	0.10680	0.0261	L	0.32530	0.975	0.52501	D	0.99995	D;D;D;D	0.65815	0.995;0.98;0.98;0.958	P;P;P;P	0.60345	0.873;0.773;0.773;0.713	T	0.04650	-1.0936	10	0.59425	D	0.04	-14.3156	13.0128	0.58741	0.0:0.1621:0.8379:0.0	.	100;440;440;78	Q96DH7;Q8TBP0;B9A6L7;Q8N3Z4	.;TBC16_HUMAN;.;.	C	78;440	ENSP00000341517:R78C;ENSP00000309794:R440C	ENSP00000309794:R440C	R	-	1	0	TBC1D16	75538199	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.989000	0.49393	2.038000	0.60285	0.585000	0.79938	CGC		PASS	0.587	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		28	98	28	98	---	---	---	---
OGFOD3	79701	broad.mit.edu	37	17	80373349	80373349	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr17:80373349G>A	ENST00000313056.5	-	2	380	c.229C>T	c.(229-231)Cgt>Tgt	p.R77C	Y_RNA_ENST00000364369.1_RNA|OGFOD3_ENST00000329197.5_Missense_Mutation_p.R77C|HEXDC_ENST00000337014.6_5'Flank	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	77						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|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)	p.R77C(2)									ACCTCGCCACGGCGGGCCAGG	0.637																																						uc002keu.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(229-231)CGT>TGT		hypothetical protein LOC79701 isoform 1							84.0	84.0	84.0					17																	80373349		2203	4299	6502	SO:0001583	missense	79701					integral to membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:80373349G>A	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 101"""	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.229C>T	17.37:g.80373349G>A	ENSP00000320116:p.Arg77Cys					C17orf101_uc002ket.1_Missense_Mutation_p.R77C|C17orf101_uc010dip.1_RNA|HEXDC_uc002kev.3_5'Flank|HEXDC_uc010diq.2_5'Flank	p.R77C	NM_024648	NP_078924	Q6PK18	CQ101_HUMAN			2	330	-			77			Lumenal (Potential).		C9JDC8|Q8IZ37|Q9H6J2	Missense_Mutation	SNP	ENST00000313056.5	37	c.229C>T	CCDS11811.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628873	0.67015	.	.	ENSG00000181396	ENST00000313056;ENST00000329197	T;T	0.33654	1.85;1.4	5.0	4.01	0.46588	.	0.277538	0.32884	N	0.005535	T	0.50769	0.1635	L	0.59436	1.845	0.22226	N	0.999272	D;D	0.76494	0.997;0.999	P;P	0.60682	0.642;0.878	T	0.45279	-0.9272	10	0.87932	D	0	-15.2213	12.3128	0.54938	0.0:0.0:0.8294:0.1706	.	77;77	Q6PK18;Q6PK18-2	CQ101_HUMAN;.	C	77	ENSP00000320116:R77C;ENSP00000330075:R77C	ENSP00000320116:R77C	R	-	1	0	C17orf101	77966638	0.035000	0.19736	0.020000	0.16555	0.010000	0.07245	2.314000	0.43743	1.044000	0.40200	0.655000	0.94253	CGT		PASS	0.637	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1	NM_175902		22	117	22	117	---	---	---	---
LPIN2	9663	broad.mit.edu	37	18	2921569	2921569	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr18:2921569T>C	ENST00000261596.4	-	18	2642	c.2404A>G	c.(2404-2406)Aag>Gag	p.K802E	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	802	C-LIP.				cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)	p.K802E(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		AAGGGCTGCTTAGACGGGGCA	0.408																																						uc002klo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2404-2406)AAG>GAG		lipin 2							125.0	121.0	123.0					18																	2921569		2203	4300	6503	SO:0001583	missense	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2921569T>C	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.2404A>G	18.37:g.2921569T>C	ENSP00000261596:p.Lys802Glu						p.K802E	NM_014646	NP_055461	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	18	2643	-			802			C-LIP.		A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.2404A>G	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	T	7.036	0.561602	0.13498	.	.	ENSG00000101577	ENST00000261596	T	0.76186	-1.0	5.56	3.14	0.36123	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.197943	0.52532	D	0.000070	T	0.53465	0.1798	L	0.29908	0.895	0.20873	N	0.999832	B	0.09022	0.002	B	0.13407	0.009	T	0.35325	-0.9793	10	0.06236	T	0.91	.	5.5108	0.16880	0.0:0.1424:0.2764:0.5812	.	802	Q92539	LPIN2_HUMAN	E	802	ENSP00000261596:K802E	ENSP00000261596:K802E	K	-	1	0	LPIN2	2911569	0.983000	0.35010	0.375000	0.26029	0.990000	0.78478	1.887000	0.39698	0.389000	0.25086	0.460000	0.39030	AAG		PASS	0.408	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		42	31	42	31	---	---	---	---
TRAPPC8	22878	broad.mit.edu	37	18	29493400	29493400	+	Nonsense_Mutation	SNP	G	G	A	rs143546887		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr18:29493400G>A	ENST00000283351.4	-	5	1038	c.703C>T	c.(703-705)Cga>Tga	p.R235*	TRAPPC8_ENST00000582513.1_Nonsense_Mutation_p.R235*|TRAPPC8_ENST00000582539.1_Nonsense_Mutation_p.R181*	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	235					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.R235*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCTGATGCTCGATTAGATGTT	0.318																																						uc002kxc.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(703-705)CGA>TGA		hypothetical protein LOC22878							87.0	88.0	88.0					18																	29493400		2203	4300	6503	SO:0001587	stop_gained	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29493400G>A	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.703C>T	18.37:g.29493400G>A	ENSP00000283351:p.Arg235*					KIAA1012_uc002kxb.3_Nonsense_Mutation_p.R181*|KIAA1012_uc002kxd.3_RNA|KIAA1012_uc002kxe.2_Nonsense_Mutation_p.R235*	p.R235*	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN			5	1067	-			235					A0JP15|B3KME5|Q9H0L2	Nonsense_Mutation	SNP	ENST00000283351.4	37	c.703C>T	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680727	0.88542	.	.	ENSG00000153339	ENST00000283351	.	.	.	5.65	5.65	0.86999	.	0.292890	0.32671	N	0.005781	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	14.0119	0.64503	0.0:0.0:0.7502:0.2498	.	.	.	.	X	235	.	ENSP00000283351:R235X	R	-	1	2	TRAPPC8	27747398	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.343000	0.44001	2.821000	0.97095	0.650000	0.86243	CGA		PASS	0.318	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		20	53	20	53	---	---	---	---
KLHL14	57565	broad.mit.edu	37	18	30254622	30254622	+	Nonstop_Mutation	SNP	A	A	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr18:30254622A>C	ENST00000359358.4	-	9	2323	c.1885T>G	c.(1885-1887)Taa>Gaa	p.*629E		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	0						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.*629E(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TCCTGGTGTTATTTGTTGTAT	0.438																																						uc002kxm.1																			1	Nonstop extension(1)		lung(1)	ovary(1)	1						c.(1885-1887)TAA>GAA		kelch-like 14							198.0	206.0	203.0					18																	30254622		2203	4300	6503	SO:0001578	stop_lost	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30254622A>C	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1885T>G	18.37:g.30254622A>C	ENSP00000352314:p.*629Glnext*7					KLHL14_uc010dmd.1_Nonstop_Mutation_p.*178E	p.*629E	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			9	2273	-			629					A6NNW1|B4DHA0|Q8WU41	Nonstop_Mutation	SNP	ENST00000359358.4	37	c.1885T>G	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.252888	0.59212	.	.	ENSG00000197705	ENST00000359358	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4177	0.83748	1.0:0.0:0.0:0.0	.	.	.	.	E	629	.	.	X	-	1	0	KLHL14	28508620	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	8.948000	0.93006	2.267000	0.75376	0.528000	0.53228	TAA		PASS	0.438	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			98	107	98	107	---	---	---	---
SYT4	6860	broad.mit.edu	37	18	40854120	40854120	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr18:40854120A>T	ENST00000255224.3	-	2	642	c.274T>A	c.(274-276)Ttg>Atg	p.L92M	SYT4_ENST00000590752.1_Missense_Mutation_p.L74M|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	92					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.L92M(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCCAGATGCAATGAATTCTTT	0.403																																					NSCLC(85;81 1419 2855 22820 35912)	uc002law.2																			2	Substitution - Missense(2)		lung(2)	skin(5)	5						c.(274-276)TTG>ATG		synaptotagmin IV							145.0	142.0	143.0					18																	40854120		2203	4300	6503	SO:0001583	missense	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40854120A>T	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.274T>A	18.37:g.40854120A>T	ENSP00000255224:p.Leu92Met					SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Missense_Mutation_p.L74M|SYT4_uc010dnh.2_Intron	p.L92M	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN			2	643	-			92			Cytoplasmic (Potential).		B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	c.274T>A	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.540571	0.65085	.	.	ENSG00000132872	ENST00000255224	T	0.39592	1.07	5.86	1.36	0.22044	.	0.000000	0.85682	D	0.000000	T	0.54886	0.1886	M	0.66939	2.045	0.49130	D	0.999754	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.49244	-0.8960	10	0.33141	T	0.24	.	7.7725	0.29017	0.392:0.0:0.608:0.0	.	74;92	B4DEU3;Q9H2B2	.;SYT4_HUMAN	M	92	ENSP00000255224:L92M	ENSP00000255224:L92M	L	-	1	2	SYT4	39108118	1.000000	0.71417	0.985000	0.45067	0.943000	0.58893	3.315000	0.51951	0.420000	0.25954	0.528000	0.53228	TTG		PASS	0.403	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		37	32	37	32	---	---	---	---
SETBP1	26040	broad.mit.edu	37	18	42530710	42530710	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr18:42530710A>G	ENST00000282030.5	+	4	1701	c.1405A>G	c.(1405-1407)Aaa>Gaa	p.K469E		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	469						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K415E(1)|p.K469E(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TAAGTTGAGTAAAATGATAGA	0.483									Schinzel-Giedion syndrome																													uc010dni.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(1405-1407)AAA>GAA		SET binding protein 1 isoform a							84.0	87.0	86.0					18																	42530710		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530710A>G	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1405A>G	18.37:g.42530710A>G	ENSP00000282030:p.Lys469Glu						p.K469E	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1701	+			469					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.1405A>G	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	A	20.6	4.024555	0.75390	.	.	ENSG00000152217	ENST00000282030	T	0.70749	-0.51	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	L	0.29908	0.895	0.34591	D	0.715508	D	0.71674	0.998	D	0.80764	0.994	T	0.82214	-0.0568	10	0.45353	T	0.12	.	16.6438	0.85155	1.0:0.0:0.0:0.0	.	469	Q9Y6X0	SETBP_HUMAN	E	469	ENSP00000282030:K469E	ENSP00000282030:K469E	K	+	1	0	SETBP1	40784708	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	5.111000	0.64628	2.333000	0.79357	0.533000	0.62120	AAA		PASS	0.483	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		56	70	56	70	---	---	---	---
SETBP1	26040	broad.mit.edu	37	18	42531632	42531632	+	Missense_Mutation	SNP	T	T	A	rs547623462		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr18:42531632T>A	ENST00000282030.5	+	4	2623	c.2327T>A	c.(2326-2328)aTg>aAg	p.M776K		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	776						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M776K(1)|p.M722K(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCAGCAGCTATGCACCCACTT	0.512									Schinzel-Giedion syndrome																													uc010dni.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(2326-2328)ATG>AAG		SET binding protein 1 isoform a							62.0	63.0	62.0					18																	42531632		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42531632T>A	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2327T>A	18.37:g.42531632T>A	ENSP00000282030:p.Met776Lys						p.M776K	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	2623	+			776					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.2327T>A	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	T	0.819	-0.749367	0.03065	.	.	ENSG00000152217	ENST00000282030	D	0.89875	-2.58	6.17	6.17	0.99709	.	0.149576	0.64402	D	0.000009	T	0.81513	0.4838	N	0.14661	0.345	0.33317	D	0.566835	B	0.27316	0.175	B	0.23018	0.043	D	0.83494	0.0071	10	0.52906	T	0.07	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	776	Q9Y6X0	SETBP_HUMAN	K	776	ENSP00000282030:M776K	ENSP00000282030:M776K	M	+	2	0	SETBP1	40785630	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.874000	0.48483	2.371000	0.80710	0.533000	0.62120	ATG		PASS	0.512	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		29	28	29	28	---	---	---	---
CTIF	9811	broad.mit.edu	37	18	46284390	46284390	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr18:46284390G>T	ENST00000256413.3	+	8	980	c.685G>T	c.(685-687)Ggg>Tgg	p.G229W	CTIF_ENST00000382998.4_Missense_Mutation_p.G229W	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	229	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)	p.G229W(1)|p.G181W(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						ATCCTACCAGGGGGGCTCAGC	0.642																																						uc002ldc.2																			2	Substitution - Missense(2)		lung(2)		0						c.(685-687)GGG>TGG		hypothetical protein LOC9811 isoform 1							67.0	83.0	77.0					18																	46284390		2203	4300	6503	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46284390G>T	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.685G>T	18.37:g.46284390G>T	ENSP00000256413:p.Gly229Trp					KIAA0427_uc002ldd.2_Missense_Mutation_p.G229W|KIAA0427_uc002lde.3_5'Flank	p.G229W	NM_014772	NP_055587	O43310	CTIF_HUMAN			8	970	+			229			Interaction with NCBP1/CBP80.		B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.685G>T	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.657917	0.67586	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.54675	0.56;0.58	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.69450	0.3112	L	0.55481	1.735	0.50632	D	0.999888	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.991	T	0.71567	-0.4554	10	0.87932	D	0	-6.66	17.4854	0.87685	0.0:0.0:1.0:0.0	.	229;229	O43310-2;O43310	.;CTIF_HUMAN	W	229;229;181	ENSP00000256413:G229W;ENSP00000372459:G229W	ENSP00000256413:G229W	G	+	1	0	CTIF	44538388	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.588000	0.82629	2.566000	0.86566	0.561000	0.74099	GGG		PASS	0.642	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		46	46	46	46	---	---	---	---
RAX	30062	broad.mit.edu	37	18	56939814	56939814	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr18:56939814C>T	ENST00000334889.3	-	2	508	c.322G>A	c.(322-324)Gag>Aag	p.E108K	RAX_ENST00000256852.7_Intron	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	108					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.E108K(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)		GGCCGTGCCTCCCCGGGCTCC	0.701																																					GBM(150;770 1898 17679 24325 37807)	uc002lhx.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(322-324)GAG>AAG		retina and anterior neural fold homeobox							47.0	50.0	49.0					18																	56939814		2201	4297	6498	SO:0001583	missense	30062				visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr18:56939814C>T	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.322G>A	18.37:g.56939814C>T	ENSP00000334813:p.Glu108Lys					RAX_uc010dpp.2_Intron	p.E108K	NM_013435	NP_038463	Q9Y2V3	RX_HUMAN		STAD - Stomach adenocarcinoma(84;0.18)	2	509	-		Lung NSC(161;0.0804)|Colorectal(73;0.0946)	108					Q86V11	Missense_Mutation	SNP	ENST00000334889.3	37	c.322G>A	CCDS11972.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268462	0.59540	.	.	ENSG00000134438	ENST00000334889	D	0.89196	-2.48	5.93	5.06	0.68205	.	0.813378	0.12108	N	0.498835	T	0.79505	0.4457	L	0.29908	0.895	0.38263	D	0.941923	P	0.35745	0.518	B	0.32149	0.141	T	0.73030	-0.4111	10	0.08599	T	0.76	.	8.9141	0.35570	0.1483:0.7763:0.0:0.0754	.	108	Q9Y2V3	RX_HUMAN	K	108	ENSP00000334813:E108K	ENSP00000334813:E108K	E	-	1	0	RAX	55090794	0.007000	0.16637	0.240000	0.24138	0.437000	0.31866	2.106000	0.41835	1.526000	0.49068	0.561000	0.74099	GAG		PASS	0.701	RAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256128.2			18	16	18	16	---	---	---	---
CTDP1	9150	broad.mit.edu	37	18	77475422	77475422	+	Silent	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr18:77475422G>C	ENST00000299543.7	+	8	2109	c.1962G>C	c.(1960-1962)acG>acC	p.T654T	CTDP1_ENST00000075430.7_Silent_p.T654T	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	654	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)	p.T654T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TAGAGAAGACGCGGGAGCATT	0.627																																						uc002lnh.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1960-1962)ACG>ACC		CTD (carboxy-terminal domain, RNA polymerase II,							37.0	30.0	33.0					18																	77475422		2202	4300	6502	SO:0001819	synonymous_variant	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77475422G>C	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.1962G>C	18.37:g.77475422G>C						CTDP1_uc002lni.1_Silent_p.T654T|CTDP1_uc010drd.1_Silent_p.T654T	p.T654T	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	8	2109	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	654			BRCT.		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Silent	SNP	ENST00000299543.7	37	c.1962G>C	CCDS12017.1																																																																																				PASS	0.627	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		2	5	2	5	---	---	---	---
STAP2	55620	broad.mit.edu	37	19	4330043	4330043	+	Missense_Mutation	SNP	C	C	A	rs374719144		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr19:4330043C>A	ENST00000594605.1	-	5	493	c.370G>T	c.(370-372)Gac>Tac	p.D124Y	STAP2_ENST00000600324.1_Missense_Mutation_p.D124Y|STAP2_ENST00000597593.1_5'Flank	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	124	PH.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.D124Y(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGTCAAGTCGGTCGGGACA	0.617																																						uc002mab.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(370-372)GAC>TAC		signal transducing adaptor family member 2							84.0	61.0	69.0					19																	4330043		2203	4300	6503	SO:0001583	missense	55620					cytoplasm|nucleus	protein binding	g.chr19:4330043C>A	AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.370G>T	19.37:g.4330043C>A	ENSP00000471052:p.Asp124Tyr					STAP2_uc002mac.2_Missense_Mutation_p.D124Y|STAP2_uc002mad.2_Missense_Mutation_p.D17Y	p.D124Y	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	5	467	-		Hepatocellular(1079;0.137)	124			PH.		A6NKK3|Q9NXI2	Missense_Mutation	SNP	ENST00000594605.1	37	c.370G>T	CCDS45926.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158488	0.38119	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	4.57	2.45	0.29901	.	0.516743	0.20463	N	0.091847	T	0.37046	0.0989	L	0.29908	0.895	0.20403	N	0.999907	P;D	0.61697	0.903;0.99	B;P	0.58873	0.366;0.847	T	0.09818	-1.0657	9	0.87932	D	0	-6.6564	5.5327	0.16993	0.0:0.2257:0.0:0.7743	.	124;124	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	Y	124	.	ENSP00000317912:D124Y	D	-	1	0	STAP2	4281043	1.000000	0.71417	0.471000	0.27229	0.247000	0.25773	0.813000	0.27225	0.625000	0.30304	-0.504000	0.04507	GAC		PASS	0.617	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841		12	19	12	19	---	---	---	---
MPND	84954	broad.mit.edu	37	19	4352936	4352936	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr19:4352936G>C	ENST00000262966.8	+	4	641	c.574G>C	c.(574-576)Gag>Cag	p.E192Q	AC007292.4_ENST00000594776.1_RNA|MPND_ENST00000359935.4_Missense_Mutation_p.E192Q|MPND_ENST00000599840.1_Missense_Mutation_p.E192Q	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing	192	Poly-Glu.						peptidase activity (GO:0008233)	p.E192Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		gctgatggaagaggaggagga	0.662																																						uc002mae.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(574-576)GAG>CAG		MPN domain containing isoform 1							28.0	31.0	30.0					19																	4352936		1997	4161	6158	SO:0001583	missense	84954						peptidase activity	g.chr19:4352936G>C		CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.574G>C	19.37:g.4352936G>C	ENSP00000262966:p.Glu192Gln					MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Missense_Mutation_p.E192Q|MPND_uc002maf.2_Missense_Mutation_p.E192Q|MPND_uc002mah.2_Missense_Mutation_p.E80Q|MPND_uc002mai.2_Missense_Mutation_p.E80Q	p.E192Q	NM_032868	NP_116257	Q8N594	MPND_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	4	641	+			192			Poly-Glu.		Q96SJ0|Q9Y2P1|Q9Y2P2	Missense_Mutation	SNP	ENST00000262966.8	37	c.574G>C	CCDS42470.1	.	.	.	.	.	.	.	.	.	.	g	10.34	1.322274	0.23994	.	.	ENSG00000008382	ENST00000262966;ENST00000359935	.	.	.	3.55	3.55	0.40652	.	0.464776	0.22905	N	0.054208	T	0.25306	0.0615	N	0.19112	0.55	0.28752	N	0.901371	B;B;B	0.28512	0.214;0.069;0.069	B;B;B	0.26770	0.073;0.012;0.011	T	0.09975	-1.0650	9	0.21540	T	0.41	-9.0881	10.9443	0.47292	0.0:0.0:1.0:0.0	.	192;192;192	Q8N594-2;A6NI36;Q8N594	.;.;MPND_HUMAN	Q	192	.	ENSP00000262966:E192Q	E	+	1	0	MPND	4303936	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.088000	0.57678	2.297000	0.77311	0.479000	0.44913	GAG		PASS	0.662	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458292.1	NM_032868		20	15	20	15	---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11096082	11096082	+	Splice_Site	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr19:11096082G>T	ENST00000429416.3	+	4	636		c.e4+1		SMARCA4_ENST00000358026.2_Splice_Site|SMARCA4_ENST00000590574.1_Splice_Site|SMARCA4_ENST00000541122.2_Splice_Site|SMARCA4_ENST00000444061.3_Splice_Site|SMARCA4_ENST00000413806.3_Splice_Site|SMARCA4_ENST00000450717.3_Splice_Site|SMARCA4_ENST00000344626.4_Splice_Site|SMARCA4_ENST00000589677.1_Splice_Site	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4						aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(3)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CACTCCCAAGGTACAGAACTG	0.592			"""F, N, Mis"""		NSCLC																																	uc002mqf.3				Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		3	Unknown(3)	p.?(1)	lung(3)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.e3+1		SWI/SNF-related matrix-associated							34.0	33.0	33.0					19																	11096082		2203	4300	6503	SO:0001630	splice_region_variant	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11096082G>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.355+1G>T	19.37:g.11096082G>T						SMARCA4_uc010dxp.2_Splice_Site_p.G119_splice|SMARCA4_uc010dxo.2_Splice_Site_p.G119_splice|SMARCA4_uc002mqg.1_Splice_Site_p.G119_splice|SMARCA4_uc010dxq.2_Splice_Site_p.G119_splice|SMARCA4_uc010dxr.2_Splice_Site_p.G119_splice|SMARCA4_uc002mqj.3_Splice_Site_p.G119_splice|SMARCA4_uc010dxs.2_Splice_Site_p.G119_splice|SMARCA4_uc002mqe.2_Splice_Site_p.G119_splice	p.G119_splice	NM_003072	NP_003063	P51532	SMCA4_HUMAN			3	639	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)						B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Splice_Site	SNP	ENST00000429416.3	37	c.355_splice	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434849	0.62955	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.143	0.81539	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMARCA4	10957082	1.000000	0.71417	0.998000	0.56505	0.674000	0.39518	9.437000	0.97535	2.334000	0.79466	0.563000	0.77884	.		PASS	0.592	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072	Intron	19	8	19	8	---	---	---	---
EPOR	2057	broad.mit.edu	37	19	11489435	11489435	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr19:11489435A>T	ENST00000222139.6	-	7	951	c.847T>A	c.(847-849)Tgg>Agg	p.W283R	EPOR_ENST00000592375.2_Missense_Mutation_p.W283R	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	283					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)	p.W283R(1)		endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	ATGCCAGGCCAGATCTTCTGC	0.517																																						uc002mrj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(847-849)TGG>AGG		erythropoietin receptor precursor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						79.0	76.0	77.0					19																	11489435		2203	4300	6503	SO:0001583	missense	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11489435A>T	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.847T>A	19.37:g.11489435A>T	ENSP00000222139:p.Trp283Arg					EPOR_uc002mrh.2_5'UTR|EPOR_uc002mri.2_Missense_Mutation_p.W110R|EPOR_uc002mrk.1_Missense_Mutation_p.W110R|EPOR_uc002mrl.1_RNA|EPOR_uc010xlx.1_RNA|EPOR_uc010xly.1_Missense_Mutation_p.W110R	p.W283R	NM_000121	NP_000112	P19235	EPOR_HUMAN			7	983	-			283			Cytoplasmic (Potential).|Box 1 motif.		B2RCG4|Q15443|Q2M205	Missense_Mutation	SNP	ENST00000222139.6	37	c.847T>A	CCDS12260.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.006777	0.74932	.	.	ENSG00000187266	ENST00000222139	D	0.84146	-1.81	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.92192	0.7524	M	0.80982	2.52	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.92882	0.6324	10	0.59425	D	0.04	-29.2178	14.4479	0.67364	1.0:0.0:0.0:0.0	.	283	P19235	EPOR_HUMAN	R	283	ENSP00000222139:W283R	ENSP00000222139:W283R	W	-	1	0	EPOR	11350435	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.616000	0.74205	2.064000	0.61679	0.533000	0.62120	TGG		PASS	0.517	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			28	35	28	35	---	---	---	---
WIZ	58525	broad.mit.edu	37	19	15535478	15535478	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr19:15535478C>T	ENST00000389282.4	-	8	4759	c.4546G>A	c.(4546-4548)Gcc>Acc	p.A1516T	WIZ_ENST00000545156.1_Missense_Mutation_p.A830T|WIZ_ENST00000599910.2_Missense_Mutation_p.A833T|WIZ_ENST00000599686.3_Missense_Mutation_p.A700T|WIZ_ENST00000263381.7_Missense_Mutation_p.A659T			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1516					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.A659T(1)|p.A1516T(1)|p.A830T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GGCGGGCTGGCTGCCAGAGGC	0.736																																						uc002nbc.2																			3	Substitution - Missense(3)		lung(3)		0						c.(2497-2499)GCC>ACC		widely-interspaced zinc finger motifs							8.0	9.0	9.0					19																	15535478		2042	4163	6205	SO:0001583	missense	58525					nucleus	zinc ion binding	g.chr19:15535478C>T	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.4546G>A	19.37:g.15535478C>T	ENSP00000373933:p.Ala1516Thr					WIZ_uc002nba.3_Missense_Mutation_p.A700T|WIZ_uc002nbb.3_Missense_Mutation_p.A659T	p.A833T	NM_021241	NP_067064	O95785	WIZ_HUMAN			6	2520	-			1516					B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37	c.2497G>A		.	.	.	.	.	.	.	.	.	.	C	11.16	1.557878	0.27827	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T	0.02737	4.18	5.57	3.37	0.38596	.	0.570250	0.17569	N	0.169523	T	0.01627	0.0052	N	0.14661	0.345	0.26051	N	0.981471	B;B;B	0.20780	0.0;0.048;0.0	B;B;B	0.16289	0.0;0.015;0.0	T	0.46803	-0.9165	10	0.17832	T	0.49	-16.6177	3.7418	0.08533	0.2432:0.5477:0.0:0.2091	.	1516;659;700	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	T	1516;659;700;830	ENSP00000373933:A1516T	ENSP00000263381:A659T	A	-	1	0	WIZ	15396478	0.012000	0.17670	1.000000	0.80357	0.926000	0.56050	-0.299000	0.08254	1.322000	0.45245	0.655000	0.94253	GCC		PASS	0.736	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		4	14	4	14	---	---	---	---
HOMER3	9454	broad.mit.edu	37	19	19042181	19042181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr19:19042181C>A	ENST00000539827.1	-	8	1499	c.847G>T	c.(847-849)Gag>Tag	p.E283*	HOMER3_ENST00000221222.11_Nonsense_Mutation_p.E283*|AC002985.3_ENST00000596918.1_3'UTR|HOMER3_ENST00000594794.1_Nonsense_Mutation_p.E74*|HOMER3_ENST00000355887.6_Nonsense_Mutation_p.E283*|HOMER3_ENST00000433218.2_Nonsense_Mutation_p.E283*|HOMER3_ENST00000542541.2_Nonsense_Mutation_p.E283*|HOMER3_ENST00000594439.1_Nonsense_Mutation_p.E247*|HOMER3_ENST00000392351.3_Nonsense_Mutation_p.E283*			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	283					G-protein coupled glutamate receptor signaling pathway (GO:0007216)|protein targeting (GO:0006605)	basal part of cell (GO:0045178)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.E283*(1)		endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			TCCAGGGCCTCGCGGGGCCCC	0.627																																						uc002nku.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(847-849)GAG>TAG		Homer, neuronal immediate early gene, 3 isoform							59.0	68.0	65.0					19																	19042181		2203	4300	6503	SO:0001587	stop_gained	9454				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding	g.chr19:19042181C>A	Y18894	CCDS12391.1, CCDS46022.1, CCDS46023.1	19p13.1	2008-02-05				ENSG00000051128			17514	protein-coding gene	gene with protein product		604800				10653696, 9808459	Standard	NM_004838		Approved	HOMER-3	uc002nkv.2	Q9NSC5		ENST00000539827.1:c.847G>T	19.37:g.19042181C>A	ENSP00000439937:p.Glu283*					HOMER3_uc002nko.1_RNA|HOMER3_uc002nkp.1_RNA|HOMER3_uc010eby.2_Nonsense_Mutation_p.E247*|HOMER3_uc010ebz.2_Nonsense_Mutation_p.E283*|HOMER3_uc002nkw.2_Nonsense_Mutation_p.E283*|HOMER3_uc002nkv.2_Nonsense_Mutation_p.E283*	p.E283*	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Epithelial(12;0.0107)		8	1500	-			283			Potential.		E9PCW9|O14580|O95350|Q9NSB9|Q9NSC0|Q9NSC1	Nonsense_Mutation	SNP	ENST00000539827.1	37	c.847G>T	CCDS12391.1	.	.	.	.	.	.	.	.	.	.	C	40	7.995982	0.98602	.	.	ENSG00000051128	ENST00000392351;ENST00000433218;ENST00000542541;ENST00000221222;ENST00000539827;ENST00000355887	.	.	.	5.19	4.16	0.48862	.	0.172270	0.48767	D	0.000172	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	10.6868	0.45848	0.0:0.9119:0.0:0.0881	.	.	.	.	X	283;283;283;247;283;283	.	ENSP00000221222:E247X	E	-	1	0	HOMER3	18903181	0.960000	0.32886	0.046000	0.18839	0.027000	0.11550	4.216000	0.58540	1.201000	0.43203	0.555000	0.69702	GAG		PASS	0.627	HOMER3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464607.1			38	39	38	39	---	---	---	---
HAPLN4	404037	broad.mit.edu	37	19	19369455	19369455	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr19:19369455C>T	ENST00000291481.7	-	4	757	c.694G>A	c.(694-696)Ggc>Agc	p.G232S	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	232	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.G232S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	CCCCCCAGGCCGCCGCAGGGC	0.726																																						uc002nmb.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(694-696)GGC>AGC		hyaluronan and proteoglycan link protein 4							18.0	20.0	19.0					19																	19369455		2199	4291	6490	SO:0001583	missense	404037				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr19:19369455C>T	AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.694G>A	19.37:g.19369455C>T	ENSP00000291481:p.Gly232Ser					HAPLN4_uc002nmc.2_Missense_Mutation_p.G232S	p.G232S	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Epithelial(12;0.00575)		4	749	-			232			Link 1.		A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	c.694G>A	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143149	0.57044	.	.	ENSG00000187664	ENST00000291481	T	0.12879	2.64	3.97	2.86	0.33363	C-type lectin fold (1);Link (3);C-type lectin-like (1);	.	.	.	.	T	0.10165	0.0249	L	0.31371	0.925	0.27158	N	0.961239	B	0.30281	0.275	B	0.31495	0.131	T	0.15896	-1.0421	9	0.87932	D	0	.	5.4847	0.16743	0.0:0.5921:0.2859:0.122	.	232	Q86UW8	HPLN4_HUMAN	S	232	ENSP00000291481:G232S	ENSP00000291481:G232S	G	-	1	0	HAPLN4	19230455	0.996000	0.38824	0.346000	0.25655	0.131000	0.20780	1.377000	0.34317	2.055000	0.61198	0.313000	0.20887	GGC		PASS	0.726	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		7	18	7	18	---	---	---	---
SUGP1	57794	broad.mit.edu	37	19	19389575	19389575	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr19:19389575C>A	ENST00000247001.5	-	11	1906	c.1559G>T	c.(1558-1560)cGg>cTg	p.R520L		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	520					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.R520L(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						GTGCTTGCCCCGGCCCATCTT	0.592																																						uc002nmh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1558-1560)CGG>CTG		splicing factor 4							38.0	32.0	34.0					19																	19389575		2203	4300	6503	SO:0001583	missense	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19389575C>A	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.1559G>T	19.37:g.19389575C>A	ENSP00000247001:p.Arg520Leu					SF4_uc002nmf.2_Missense_Mutation_p.R70L|SF4_uc002nmg.2_Missense_Mutation_p.R70L|SF4_uc002nmi.2_Missense_Mutation_p.R310L|SF4_uc002nmj.2_Missense_Mutation_p.R310L|SF4_uc002nme.2_Missense_Mutation_p.R70L	p.R520L	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN			11	1561	-			520					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	c.1559G>T	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417257	0.62622	.	.	ENSG00000105705	ENST00000247001	T	0.26518	1.73	5.26	4.23	0.50019	.	0.061476	0.64402	D	0.000010	T	0.18425	0.0442	L	0.40543	1.245	0.80722	D	1	P	0.40794	0.729	B	0.31290	0.127	T	0.02893	-1.1097	10	0.42905	T	0.14	.	12.3478	0.55130	0.0:0.9179:0.0:0.0821	.	520	Q8IWZ8	SUGP1_HUMAN	L	520	ENSP00000247001:R520L	ENSP00000247001:R520L	R	-	2	0	SUGP1	19250575	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.515000	0.67049	1.220000	0.43490	0.561000	0.74099	CGG		PASS	0.592	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		7	16	7	16	---	---	---	---
ZNF492	57615	broad.mit.edu	37	19	22836207	22836207	+	Missense_Mutation	SNP	A	A	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr19:22836207A>C	ENST00000456783.2	+	2	250	c.6A>C	c.(4-6)ttA>ttC	p.L2F		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	2	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L2F(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATGTGATGTTAGAGAACTACA	0.393																																						uc002nqw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(4-6)TTA>TTC		zinc finger protein 492							125.0	148.0	140.0					19																	22836207		2203	4298	6501	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22836207A>C	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.6A>C	19.37:g.22836207A>C	ENSP00000413660:p.Leu2Phe						p.L2F	NM_020855	NP_065906	Q9P255	ZN492_HUMAN			2	250	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	2			KRAB.		Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.6A>C	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	10.51	1.370018	0.24771	.	.	ENSG00000229676	ENST00000456783	T	0.01145	5.27	1.23	-0.821	0.10822	Krueppel-associated box (3);	.	.	.	.	T	0.08223	0.0205	H	0.96111	3.77	0.09310	N	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.08722	-1.0708	9	0.66056	D	0.02	.	3.8224	0.08841	0.3314:0.0:0.6686:0.0	.	2	Q9P255	ZN492_HUMAN	F	2	ENSP00000413660:L2F	ENSP00000413660:L2F	L	+	3	2	ZNF492	22628047	0.997000	0.39634	0.117000	0.21633	0.043000	0.13939	0.664000	0.25068	-0.413000	0.07507	-0.435000	0.05868	TTA		PASS	0.393	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		58	80	58	80	---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36051408	36051408	+	Missense_Mutation	SNP	C	C	A	rs141192219		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr19:36051408C>A	ENST00000262623.3	-	6	672	c.644G>T	c.(643-645)cGc>cTc	p.R215L		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	215					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.R215L(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGCCAGGATGCGGATGTCGGC	0.632																																						uc002oal.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(643-645)CGC>CTC		hydrogen/potassium-exchanging ATPase 4A	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						64.0	59.0	61.0					19																	36051408		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36051408C>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.644G>T	19.37:g.36051408C>A	ENSP00000262623:p.Arg215Leu					ATP4A_uc010eee.1_5'Flank	p.R215L	NM_000704	NP_000695	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		6	673	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		215			Cytoplasmic (Potential).		O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.644G>T	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	c	26.5	4.742342	0.89573	.	.	ENSG00000105675	ENST00000262623	D	0.91740	-2.9	4.16	4.16	0.48862	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000019	D	0.94634	0.8270	M	0.87971	2.92	0.58432	D	0.999997	P	0.38455	0.632	P	0.47705	0.555	D	0.95472	0.8552	10	0.66056	D	0.02	.	14.3183	0.66468	0.0:1.0:0.0:0.0	.	215	P20648	ATP4A_HUMAN	L	215	ENSP00000262623:R215L	ENSP00000262623:R215L	R	-	2	0	ATP4A	40743248	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.873000	0.69644	2.314000	0.78098	0.486000	0.48141	CGC		PASS	0.632	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		25	23	25	23	---	---	---	---
RASGRP4	115727	broad.mit.edu	37	19	38916724	38916724	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr19:38916724C>A	ENST00000587738.1	-	1	78	c.8G>T	c.(7-9)aGa>aTa	p.R3I	RASGRP4_ENST00000586305.1_Missense_Mutation_p.R3I|RASGRP4_ENST00000293062.9_Missense_Mutation_p.R3I|RASGRP4_ENST00000433821.2_Missense_Mutation_p.R3I|RASGRP4_ENST00000587753.1_Missense_Mutation_p.R3I|RASGRP4_ENST00000454404.2_Missense_Mutation_p.R3I|RASGRP4_ENST00000426920.2_Missense_Mutation_p.R3I			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	3					activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R3I(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACTGTCTTTTCTGTTCATGCT	0.652																																						uc002oir.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|lung(1)|skin(1)	3						c.(7-9)AGA>ATA		RAS guanyl releasing protein 4 isoform a							65.0	73.0	71.0					19																	38916724		1907	4100	6007	SO:0001583	missense	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38916724C>A	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.8G>T	19.37:g.38916724C>A	ENSP00000465772:p.Arg3Ile					RASGRP4_uc010xua.1_Missense_Mutation_p.R3I|RASGRP4_uc010xub.1_Missense_Mutation_p.R3I|RASGRP4_uc010xuc.1_Missense_Mutation_p.R3I|RASGRP4_uc010xud.1_Missense_Mutation_p.R3I|RASGRP4_uc010xue.1_Missense_Mutation_p.R3I|RASGRP4_uc010egb.2_Missense_Mutation_p.R3I	p.R3I	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		1	222	-	all_cancers(60;4.21e-06)		3					A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	c.8G>T	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960225	0.53400	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	3.69	3.69	0.42338	.	0.238351	0.27275	N	0.020116	T	0.45577	0.1349	L	0.47716	1.5	0.52501	D	0.999956	D;D;P;D;P;D;D	0.71674	0.995;0.995;0.915;0.998;0.664;0.993;0.998	D;D;B;D;B;P;D	0.78314	0.979;0.979;0.386;0.991;0.292;0.769;0.991	T	0.43782	-0.9370	10	0.87932	D	0	-20.1478	11.0988	0.48161	0.0:1.0:0.0:0.0	.	3;3;3;3;3;3;3	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	I	3	ENSP00000411878:R3I;ENSP00000293062:R3I;ENSP00000445966:R3I;ENSP00000416463:R3I	ENSP00000293062:R3I	R	-	2	0	RASGRP4	43608564	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	3.947000	0.56652	2.056000	0.61249	0.467000	0.42956	AGA		PASS	0.652	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		14	10	14	10	---	---	---	---
ERF	2077	broad.mit.edu	37	19	42752640	42752640	+	Missense_Mutation	SNP	A	A	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr19:42752640A>C	ENST00000222329.4	-	4	1781	c.1624T>G	c.(1624-1626)Tcc>Gcc	p.S542A	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Missense_Mutation_p.S467A	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	542					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)	p.S542A(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				TGCTCCAGGGAGAGCTGGGCC	0.682																																						uc002ote.3																			1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1624-1626)TCC>GCC		Ets2 repressor factor							21.0	26.0	24.0					19																	42752640		2196	4287	6483	SO:0001583	missense	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42752640A>C	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1624T>G	19.37:g.42752640A>C	ENSP00000222329:p.Ser542Ala					ERF_uc002otd.3_Missense_Mutation_p.S273A	p.S542A	NM_006494	NP_006485	P50548	ERF_HUMAN			4	1782	-		Prostate(69;0.00682)	542					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	37	c.1624T>G	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	A	12.77	2.037000	0.35893	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.25250	2.76;1.81	4.39	4.39	0.52855	.	1.574870	0.03830	N	0.268981	T	0.23410	0.0566	N	0.19112	0.55	0.51233	D	0.999912	P	0.46656	0.882	B	0.40534	0.332	T	0.11665	-1.0578	10	0.87932	D	0	.	13.0206	0.58784	1.0:0.0:0.0:0.0	.	542	P50548	ERF_HUMAN	A	542;467	ENSP00000222329:S542A;ENSP00000388173:S467A	ENSP00000222329:S542A	S	-	1	0	ERF	47444480	1.000000	0.71417	0.993000	0.49108	0.546000	0.35178	4.771000	0.62318	1.981000	0.57761	0.459000	0.35465	TCC		PASS	0.682	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		24	14	24	14	---	---	---	---
LIG1	3978	broad.mit.edu	37	19	48664717	48664717	+	Missense_Mutation	SNP	G	G	A	rs4987181	byFrequency	TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr19:48664717G>A	ENST00000263274.7	-	4	574	c.155C>T	c.(154-156)cCg>cTg	p.P52L	LIG1_ENST00000536218.1_Missense_Mutation_p.P52L|LIG1_ENST00000599165.1_5'UTR|LIG1_ENST00000427526.2_Missense_Mutation_p.P22L	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	52			P -> L (in dbSNP:rs4987181).		anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|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)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.P52L(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCTCTTCACCGGAGAGTCACT	0.627								Nucleotide excision repair (NER)					G|||	2	0.000399361	0.0	0.0	5008	,	,		17320	0.002		0.0	False		,,,				2504	0.0					uc002pia.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(1)	3						c.(154-156)CCG>CTG	NER	DNA ligase I	Bleomycin(DB00290)						123.0	119.0	120.0					19																	48664717		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48664717G>A		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.155C>T	19.37:g.48664717G>A	ENSP00000263274:p.Pro52Leu					LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.P52L|LIG1_uc010xzg.1_Missense_Mutation_p.P22L|LIG1_uc010xzh.1_RNA	p.P52L	NM_000234	NP_000225	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	4	275	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	52					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.155C>T	CCDS12711.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.78	3.891598	0.72524	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218;ENST00000542460	T;T;T;T	0.72282	-0.64;-0.23;-0.43;2.08	4.62	4.62	0.57501	.	0.117813	0.64402	D	0.000020	T	0.81754	0.4889	M	0.68952	2.095	0.44261	D	0.997111	D;D;D	0.89917	0.984;1.0;0.998	B;D;P	0.87578	0.313;0.998;0.689	D	0.83420	0.0032	10	0.72032	D	0.01	-12.0027	13.6656	0.62393	0.0:0.0:1.0:0.0	rs4987181;rs52822655;rs4987181	22;52;52	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	L	52;84;22;52;52	ENSP00000263274:P52L;ENSP00000442841:P22L;ENSP00000441531:P52L;ENSP00000445928:P52L	ENSP00000263274:P52L	P	-	2	0	LIG1	53356529	0.998000	0.40836	0.999000	0.59377	0.621000	0.37620	4.154000	0.58125	2.497000	0.84241	0.462000	0.41574	CCG		PASS	0.627	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		34	109	34	109	---	---	---	---
CCDC114	93233	broad.mit.edu	37	19	48807010	48807010	+	Silent	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr19:48807010G>C	ENST00000315396.7	-	8	1456	c.774C>G	c.(772-774)acC>acG	p.T258T		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	258					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)		p.T258T(1)|p.T51T(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TCTCCTGGGAGGTCTTCCAGA	0.622																																						uc002pir.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(772-774)ACC>ACG		coiled-coil domain containing 114 isoform 2							77.0	77.0	77.0					19																	48807010		2203	4300	6503	SO:0001819	synonymous_variant	93233							g.chr19:48807010G>C	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.774C>G	19.37:g.48807010G>C						CCDC114_uc002piq.2_Silent_p.T67T|CCDC114_uc002pio.2_Silent_p.T295T|CCDC114_uc002pis.1_5'Flank|CCDC114_uc002pit.1_Silent_p.T295T|CCDC114_uc002piu.1_Silent_p.T295T	p.T258T	NM_144577	NP_653178	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	8	1457	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	258					Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	c.774C>G	CCDS12714.2																																																																																				PASS	0.622	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		38	53	38	53	---	---	---	---
MED25	81857	broad.mit.edu	37	19	50322430	50322430	+	Splice_Site	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr19:50322430A>G	ENST00000312865.6	+	3	235	c.182A>G	c.(181-183)tAt>tGt	p.Y61C	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	61	Interaction with the Mediator complex.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)	p.Y61C(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CCCTCCCAGTATGGGGGGACC	0.547																																					GBM(51;894 1657 37868)	uc002ppw.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(181-183)TAT>TGT		mediator complex subunit 25							70.0	63.0	65.0					19																	50322430		2203	4300	6503	SO:0001630	splice_region_variant	81857				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50322430A>G	AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.181-1A>G	19.37:g.50322430A>G						MED25_uc010ybe.1_Intron|MED25_uc010enl.1_Missense_Mutation_p.Y61C	p.Y61C	NM_030973	NP_112235	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	3	235	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	61			Interaction with the Mediator complex.		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	ENST00000312865.6	37	c.182A>G	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.963975	0.74131	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000542221;ENST00000544580	T	0.78126	-1.15	5.29	5.29	0.74685	.	0.136875	0.50627	D	0.000114	T	0.82231	0.4992	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.82092	-0.0628	10	0.41790	T	0.15	.	14.5082	0.67767	1.0:0.0:0.0:0.0	.	61	Q71SY5	MED25_HUMAN	C	61	ENSP00000326767:Y61C	ENSP00000326767:Y61C	Y	+	2	0	MED25	55014242	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	6.348000	0.73009	2.125000	0.65367	0.533000	0.62120	TAT		PASS	0.547	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973	Missense_Mutation	27	27	27	27	---	---	---	---
KLK1	3816	broad.mit.edu	37	19	51322498	51322498	+	Silent	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr19:51322498C>T	ENST00000301420.2	-	5	776	c.741G>A	c.(739-741)gtG>gtA	p.V247V	CTD-2568A17.5_ENST00000326989.5_lincRNA|KLK1_ENST00000448701.2_Silent_p.V145V	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	247	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.V247V(1)		breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	CATAAGACAGCACTCTGACGG	0.562																																						uc002ptk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(739-741)GTG>GTA		kallikrein 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						141.0	119.0	127.0					19																	51322498		2203	4300	6503	SO:0001819	synonymous_variant	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51322498C>T	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.741G>A	19.37:g.51322498C>T						KLK1_uc010ycg.1_RNA	p.V247V	NM_002257	NP_002248	P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	5	780	-		all_neural(266;0.0199)	247			Peptidase S1.		Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Silent	SNP	ENST00000301420.2	37	c.741G>A	CCDS12804.1																																																																																				PASS	0.562	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		28	78	28	78	---	---	---	---
SIGLEC12	89858	broad.mit.edu	37	19	52004673	52004673	+	Silent	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr19:52004673G>A	ENST00000291707.3	-	1	370	c.315C>T	c.(313-315)acC>acT	p.T105T	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	105	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.T105T(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGATGCTCAGGGTACAATCCT	0.498																																						uc002pwx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(313-315)ACC>ACT		sialic acid binding immunoglobulin-like							169.0	151.0	157.0					19																	52004673		2203	4300	6503	SO:0001819	synonymous_variant	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52004673G>A	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.315C>T	19.37:g.52004673G>A						SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	p.T105T	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	1	371	-		all_neural(266;0.0199)	105			Ig-like V-type 1.|Extracellular (Potential).		Q8IYH7	Silent	SNP	ENST00000291707.3	37	c.315C>T	CCDS12833.1																																																																																				PASS	0.498	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		63	90	63	90	---	---	---	---
ZNF677	342926	broad.mit.edu	37	19	53740440	53740440	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr19:53740440G>T	ENST00000598513.1	-	5	1690	c.1540C>A	c.(1540-1542)Cct>Act	p.P514T	ZNF677_ENST00000333952.4_Missense_Mutation_p.P514T	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	514					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.P514T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CATTTGTAAGGTTTCTCTCCA	0.348																																						uc002qbf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1540-1542)CCT>ACT		zinc finger protein 677							112.0	109.0	110.0					19																	53740440		2203	4299	6502	SO:0001583	missense	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53740440G>T	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1540C>A	19.37:g.53740440G>T	ENSP00000469391:p.Pro514Thr					ZNF677_uc002qbg.1_Missense_Mutation_p.P514T	p.P514T	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	5	1725	-			514						Missense_Mutation	SNP	ENST00000598513.1	37	c.1540C>A	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.906491	0.52333	.	.	ENSG00000197928	ENST00000333952	T	0.28895	1.59	2.21	1.17	0.20885	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34879	N	0.003608	T	0.32675	0.0837	M	0.72624	2.21	0.26356	N	0.977124	P	0.44734	0.842	P	0.44477	0.451	T	0.20438	-1.0275	10	0.87932	D	0	.	6.8941	0.24247	0.1513:0.0:0.8487:0.0	.	514	Q86XU0	ZN677_HUMAN	T	514	ENSP00000334394:P514T	ENSP00000334394:P514T	P	-	1	0	ZNF677	58432252	0.706000	0.27856	1.000000	0.80357	0.962000	0.63368	2.770000	0.47662	0.506000	0.28125	0.655000	0.94253	CCT		PASS	0.348	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		19	41	19	41	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55354367	55354367	+	Intron	SNP	A	A	G	rs202149687		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr19:55354367A>G	ENST00000402254.2	+	6	1033				KIR2DS4_ENST00000339924.8_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ACCAAGCTCCAAAACCGGTGA	0.507																																						uc002qhm.1																			0					0						c.(709-711)AAA>GAA		killer cell immunoglobulin-like receptor, two							139.0	122.0	129.0					19																	55354367		1491	2626	4117	SO:0001627	intron_variant	3809					integral to plasma membrane	receptor activity	g.chr19:55354367A>G	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000402254.2:c.1000+17834A>G	19.37:g.55354367A>G						KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Intron|KIR2DS4_uc002qhn.1_Intron	p.K237E	NM_012314	NP_036446	P43632	KI2S4_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	6	755	+			237			Extracellular (Potential).		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000402254.2	37	c.709A>G																																																																																					PASS	0.507	KIR3DL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_013289		6	48	6	48	---	---	---	---
EPS8L1	54869	broad.mit.edu	37	19	55590382	55590382	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr19:55590382A>G	ENST00000201647.6	+	4	130	c.74A>G	c.(73-75)tAc>tGc	p.Y25C	EPS8L1_ENST00000588359.1_5'Flank|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000245618.5_5'Flank|EPS8L1_ENST00000586329.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	25					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)	p.Y25C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AGGAAGCGTTACTCCACAGTT	0.597																																					Ovarian(149;255 1863 3636 27051 29647)	uc002qis.3																			1	Substitution - Missense(1)		lung(1)		0						c.(73-75)TAC>TGC		epidermal growth factor receptor pathway							139.0	113.0	121.0					19																	55590382		2203	4300	6503	SO:0001583	missense	54869					cytoplasm		g.chr19:55590382A>G	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.74A>G	19.37:g.55590382A>G	ENSP00000201647:p.Tyr25Cys					EPS8L1_uc010ess.1_Intron|EPS8L1_uc010est.1_Missense_Mutation_p.Y25C|EPS8L1_uc010yfr.1_Intron|EPS8L1_uc010esu.1_Intron|EPS8L1_uc002qiu.2_5'Flank|EPS8L1_uc002qiv.2_5'Flank|EPS8L1_uc002qiw.2_5'Flank	p.Y25C	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	4	178	+			25					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.74A>G	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.129325	0.56721	.	.	ENSG00000131037	ENST00000201647	T	0.08896	3.04	3.97	3.97	0.46021	.	0.099937	0.41823	D	0.000811	T	0.23611	0.0571	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.00628	-1.1637	10	0.87932	D	0	-18.0779	9.5604	0.39366	1.0:0.0:0.0:0.0	.	25	Q8TE68	ES8L1_HUMAN	C	25	ENSP00000201647:Y25C	ENSP00000201647:Y25C	Y	+	2	0	EPS8L1	60282194	0.999000	0.42202	0.998000	0.56505	0.922000	0.55478	4.825000	0.62708	1.577000	0.49804	0.459000	0.35465	TAC		PASS	0.597	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		41	47	41	47	---	---	---	---
FIZ1	84922	broad.mit.edu	37	19	56104586	56104586	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr19:56104586C>A	ENST00000221665.3	-	3	810	c.721G>T	c.(721-723)Gcg>Tcg	p.A241S		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	241					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)	p.A241S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TCCAGCAGCGCGGGCGCGTTG	0.776																																						uc002qli.3																			1	Substitution - Missense(1)		lung(1)		0						c.(721-723)GCG>TCG		FLT3-interacting zinc finger 1							4.0	5.0	5.0					19																	56104586		1127	2242	3369	SO:0001583	missense	84922				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	g.chr19:56104586C>A	AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"""Zinc fingers, C2H2-type"""	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.721G>T	19.37:g.56104586C>A	ENSP00000221665:p.Ala241Ser					FIZ1_uc002qlj.3_Missense_Mutation_p.A241S	p.A241S	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	3	811	-			241			C2H2-type 6.		A2RU72|Q6ZMJ7	Missense_Mutation	SNP	ENST00000221665.3	37	c.721G>T	CCDS12928.1	.	.	.	.	.	.	.	.	.	.	C	0.432	-0.902765	0.02453	.	.	ENSG00000179943	ENST00000221665	T	0.39229	1.09	3.7	2.6	0.31112	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15652	0.0377	N	0.05414	-0.055	0.09310	N	0.999999	P	0.34864	0.473	B	0.34138	0.176	T	0.23297	-1.0192	9	0.02654	T	1	-9.6349	2.3738	0.04337	0.2006:0.4953:0.1948:0.1093	.	241	Q96SL8	FIZ1_HUMAN	S	241	ENSP00000221665:A241S	ENSP00000221665:A241S	A	-	1	0	FIZ1	60796398	0.495000	0.26051	0.558000	0.28319	0.636000	0.38137	2.846000	0.48262	0.838000	0.34948	0.511000	0.50034	GCG		PASS	0.776	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	NM_032836		3	4	3	4	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56423967	56423967	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr19:56423967C>G	ENST00000342929.3	-	5	1215	c.1216G>C	c.(1216-1218)Gag>Cag	p.E406Q	NLRP13_ENST00000588751.1_Missense_Mutation_p.E406Q	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	406	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.E406Q(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGGATTTTCTCAACTTCACTT	0.458																																						uc010ygg.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(1216-1218)GAG>CAG		NACHT, leucine rich repeat and PYD containing							85.0	90.0	88.0					19																	56423967		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56423967C>G	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1216G>C	19.37:g.56423967C>G	ENSP00000343891:p.Glu406Gln						p.E406Q	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1241	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	406			NACHT.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.1216G>C	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	1.180	-0.638442	0.03557	.	.	ENSG00000173572	ENST00000342929	T	0.73897	-0.79	2.7	0.169	0.15017	.	.	.	.	.	T	0.56337	0.1978	N	0.25286	0.73	0.09310	N	1	P	0.41475	0.751	B	0.42771	0.397	T	0.46091	-0.9216	9	0.13470	T	0.59	.	5.0291	0.14400	0.0:0.3234:0.0:0.6766	.	406	Q86W25	NAL13_HUMAN	Q	406	ENSP00000343891:E406Q	ENSP00000343891:E406Q	E	-	1	0	NLRP13	61115779	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.480000	0.06559	-0.097000	0.12307	-0.423000	0.05987	GAG		PASS	0.458	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		41	46	41	46	---	---	---	---
SRXN1	140809	broad.mit.edu	37	20	629441	629441	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr20:629441C>A	ENST00000381962.3	-	2	515	c.331G>T	c.(331-333)Gag>Tag	p.E111*	RP5-850E9.3_ENST00000488788.2_3'UTR	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1	111					response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	ATP binding (GO:0005524)|oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)|sulfiredoxin activity (GO:0032542)	p.E111*(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						GGGATGGTCTCTCGCTGCAGT	0.602																																						uc002wea.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(331-333)GAG>TAG		sulfiredoxin 1 homolog							111.0	107.0	109.0					20																	629441		2203	4300	6503	SO:0001587	stop_gained	140809				response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity	g.chr20:629441C>A	AF075053	CCDS13005.1	20p13	2013-05-22	2010-06-24	2005-05-10	ENSG00000271303	ENSG00000271303			16132	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 139"", ""sulfiredoxin 1 homolog (S. cerevisiae)"""	C20orf139			Standard	NM_080725		Approved	Npn3, SRX1, YKL086W, dJ850E9.2	uc002wea.4	Q9BYN0	OTTHUMG00000031644	ENST00000381962.3:c.331G>T	20.37:g.629441C>A	ENSP00000371388:p.Glu111*					SRXN1_uc002web.2_RNA	p.E111*	NM_080725	NP_542763	Q9BYN0	SRXN1_HUMAN			2	392	-			111					B2R543|Q8NDM3|Q96AK6	Nonsense_Mutation	SNP	ENST00000381962.3	37	c.331G>T	CCDS13005.1	.	.	.	.	.	.	.	.	.	.	C	38	6.852289	0.97885	.	.	ENSG00000172070	ENST00000381962	.	.	.	5.69	4.75	0.60458	.	0.310205	0.26723	U	0.022835	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-27.0256	11.4831	0.50337	0.0:0.9168:0.0:0.0832	.	.	.	.	X	111	.	ENSP00000371388:E111X	E	-	1	0	SRXN1	577441	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.335000	0.52105	1.422000	0.47177	0.650000	0.86243	GAG		PASS	0.602	SRXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077479.2	NM_080725		4	72	4	72	---	---	---	---
VPS16	64601	broad.mit.edu	37	20	2845948	2845948	+	Missense_Mutation	SNP	G	G	A	rs575359761	byFrequency	TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr20:2845948G>A	ENST00000380445.3	+	21	2231	c.2159G>A	c.(2158-2160)cGc>cAc	p.R720H	VPS16_ENST00000380469.3_Missense_Mutation_p.R576H|VPS16_ENST00000380443.3_Missense_Mutation_p.R406H|PTPRA_ENST00000380393.3_5'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	720					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)		p.R720H(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CGTGACTTCCGCATCCCTGAC	0.602													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18583	0.0		0.0	False		,,,				2504	0.001					uc002whe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(2158-2160)CGC>CAC		vacuolar protein sorting 16 isoform 1							64.0	52.0	56.0					20																	2845948		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2845948G>A	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.2159G>A	20.37:g.2845948G>A	ENSP00000369810:p.Arg720His					VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'UTR|VPS16_uc002whf.2_Missense_Mutation_p.R576H|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.R406H|VPS16_uc002whi.2_Missense_Mutation_p.R204H	p.R720H	NM_022575	NP_072097	Q9H269	VPS16_HUMAN			21	2207	+			720					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.2159G>A	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871887	0.72180	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000380443	T;T;T	0.52983	0.64;0.64;0.64	5.4	5.4	0.78164	Vps16, C-terminal (1);	0.170680	0.53938	D	0.000047	T	0.44052	0.1275	N	0.25890	0.77	0.80722	D	1	D;D;D;D	0.71674	0.988;0.995;0.998;0.995	P;P;P;P	0.51918	0.615;0.684;0.669;0.684	T	0.44097	-0.9350	10	0.87932	D	0	-17.633	10.1604	0.42849	0.0904:0.0:0.9096:0.0	.	196;406;576;720	A1A4H0;Q5JUA8;Q9H269-2;Q9H269	.;.;.;VPS16_HUMAN	H	720;576;406	ENSP00000369810:R720H;ENSP00000369836:R576H;ENSP00000369808:R406H	ENSP00000369808:R406H	R	+	2	0	VPS16	2793948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.118000	0.41949	2.539000	0.85634	0.655000	0.94253	CGC		PASS	0.602	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		3	27	3	27	---	---	---	---
CHGB	1114	broad.mit.edu	37	20	5905692	5905692	+	Silent	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr20:5905692C>G	ENST00000378961.4	+	5	2235	c.2031C>G	c.(2029-2031)ggC>ggG	p.G677G		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	677						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.G677G(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GCCAAAGGGGCTGACTGTCAT	0.443																																						uc002wmg.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(2029-2031)GGC>GGG		chromogranin B precursor							76.0	74.0	75.0					20																	5905692		2203	4300	6503	SO:0001819	synonymous_variant	1114					extracellular region	hormone activity	g.chr20:5905692C>G		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.2031C>G	20.37:g.5905692C>G						CHGB_uc010zqz.1_Silent_p.G360G	p.G677G	NM_001819	NP_001810	P05060	SCG1_HUMAN			5	2337	+			677					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	c.2031C>G	CCDS13092.1																																																																																				PASS	0.443	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		30	23	30	23	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20243735	20243735	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr20:20243735G>T	ENST00000245957.5	+	21	2540	c.2464G>T	c.(2464-2466)Gca>Tca	p.A822S	RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000389656.3_Missense_Mutation_p.A178S|C20orf26_ENST00000377293.1_Missense_Mutation_p.A178S|C20orf26_ENST00000377309.2_Missense_Mutation_p.A178S	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		822								p.A822S(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TTGCTTTAAGGCACTGATTTG	0.453																																						uc002wru.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(2464-2466)GCA>TCA		hypothetical protein LOC26074							123.0	118.0	120.0					20																	20243735		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20243735G>T																												ENST00000245957.5:c.2464G>T	20.37:g.20243735G>T	ENSP00000245957:p.Ala822Ser					C20orf26_uc010zse.1_Missense_Mutation_p.A802S|C20orf26_uc002wrw.2_RNA|C20orf26_uc002wrv.2_Missense_Mutation_p.A178S	p.A822S	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	21	2540	+			822					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.2464G>T	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658132	0.47467	.	.	ENSG00000089101	ENST00000343997;ENST00000377309;ENST00000389656;ENST00000389655;ENST00000245957;ENST00000377293	T;T;T;T	0.38401	1.14;1.14;1.14;1.14	5.1	3.13	0.36017	.	0.170563	0.51477	N	0.000094	T	0.44746	0.1308	M	0.68593	2.085	0.23823	N	0.996747	P;P;P	0.52061	0.95;0.905;0.944	P;P;P	0.52909	0.713;0.625;0.572	T	0.32824	-0.9892	10	0.21014	T	0.42	.	11.4518	0.50158	0.1467:0.0:0.8533:0.0	.	802;178;822	F8W6K4;Q8NHU2-5;Q8NHU2	.;.;CT026_HUMAN	S	762;178;178;802;822;178	ENSP00000366524:A178S;ENSP00000374307:A178S;ENSP00000245957:A822S;ENSP00000366508:A178S	ENSP00000245957:A822S	A	+	1	0	C20orf26	20191735	1.000000	0.71417	0.008000	0.14137	0.002000	0.02628	2.861000	0.48380	0.706000	0.31912	0.655000	0.94253	GCA		PASS	0.453	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			46	60	46	60	---	---	---	---
TGIF2	60436	broad.mit.edu	37	20	35219734	35219734	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr20:35219734C>T	ENST00000373874.2	+	3	813	c.614C>T	c.(613-615)gCg>gTg	p.A205V	TGIF2_ENST00000373872.4_Missense_Mutation_p.A205V|RP5-977B1.11_ENST00000561134.1_RNA|TGIF2-C20orf24_ENST00000558530.1_Intron	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	205	Repressive function.				gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway (GO:0038092)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|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)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A205V(1)		cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GTGGAGGTGGCGCTACAGAGG	0.577																																						uc002xfn.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(613-615)GCG>GTG		TGFB-induced factor homeobox 2							91.0	94.0	93.0					20																	35219734		2199	4295	6494	SO:0001583	missense	60436					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:35219734C>T	AB042646	CCDS13278.1	20q11.23	2012-12-12	2007-02-07		ENSG00000118707	ENSG00000118707		"""Homeoboxes / TALE class"""	15764	protein-coding gene	gene with protein product		607294	"""TGFB-induced factor 2 (TALE family homeobox)"""			11006116	Standard	NM_021809		Approved		uc021wcv.1	Q9GZN2	OTTHUMG00000172332	ENST00000373874.2:c.614C>T	20.37:g.35219734C>T	ENSP00000362981:p.Ala205Val					C20orf24_uc002xfo.2_Intron	p.A205V	NM_021809	NP_068581	Q9GZN2	TGIF2_HUMAN			3	787	+	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)	205			Repressive function.		B2R9U3|E1P5T9|H0YNI0	Missense_Mutation	SNP	ENST00000373874.2	37	c.614C>T	CCDS13278.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269160	0.80469	.	.	ENSG00000118707	ENST00000373874;ENST00000373872	T;T	0.81330	-1.48;-1.48	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.80555	0.4645	M	0.75085	2.285	0.80722	D	1	D	0.53745	0.962	B	0.38500	0.275	D	0.84951	0.0871	10	0.87932	D	0	-26.4308	18.3852	0.90464	0.0:1.0:0.0:0.0	.	205	Q9GZN2	TGIF2_HUMAN	V	205	ENSP00000362981:A205V;ENSP00000362979:A205V	ENSP00000362979:A205V	A	+	2	0	TGIF2	34653148	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.440000	0.80464	2.569000	0.86673	0.561000	0.74099	GCG		PASS	0.577	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079004.2	NM_021809		6	166	6	166	---	---	---	---
CDH22	64405	broad.mit.edu	37	20	44839103	44839103	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr20:44839103C>A	ENST00000372262.3	-	6	1529	c.1129G>T	c.(1129-1131)Gac>Tac	p.D377Y	CDH22_ENST00000537909.1_Missense_Mutation_p.D377Y|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	377	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D377Y(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				ATCGCCTGGTCGCGGAACGTG	0.711																																						uc002xrm.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1129-1131)GAC>TAC		cadherin 22 precursor							24.0	23.0	23.0					20																	44839103		2201	4295	6496	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44839103C>A	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1129G>T	20.37:g.44839103C>A	ENSP00000361336:p.Asp377Tyr					CDH22_uc010ghk.1_Missense_Mutation_p.D377Y|CDH22_uc002xrn.1_Missense_Mutation_p.D128Y	p.D377Y	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN			6	1530	-		Myeloproliferative disorder(115;0.0122)	377			Extracellular (Potential).|Cadherin 3.		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.1129G>T	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.786541	0.90367	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.39229	1.09;1.09	4.17	4.17	0.49024	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	M	0.92784	3.345	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.80663	-0.1282	10	0.87932	D	0	.	15.6457	0.77049	0.0:1.0:0.0:0.0	.	377	Q9UJ99	CAD22_HUMAN	Y	377	ENSP00000361336:D377Y;ENSP00000437790:D377Y	ENSP00000361336:D377Y	D	-	1	0	CDH22	44272510	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.582000	0.82546	2.171000	0.68590	0.555000	0.69702	GAC		PASS	0.711	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		19	16	19	16	---	---	---	---
KCNG1	3755	broad.mit.edu	37	20	49626862	49626862	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr20:49626862G>A	ENST00000371571.4	-	2	299	c.14C>T	c.(13-15)cCg>cTg	p.P5L	KCNG1_ENST00000396017.3_Missense_Mutation_p.P5L|RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'Flank	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	5					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.P5L(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ATTGTCTCCCGGTAAGAGGGT	0.622																																						uc002xwa.3																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(1)|central_nervous_system(1)	2						c.(13-15)CCG>CTG		potassium voltage-gated channel, subfamily G,							39.0	42.0	41.0					20																	49626862		2063	4026	6089	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49626862G>A	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.14C>T	20.37:g.49626862G>A	ENSP00000360626:p.Pro5Leu					KCNG1_uc002xwb.2_Missense_Mutation_p.P5L	p.P5L	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN			2	309	-			5			Cytoplasmic (Potential).		A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.14C>T	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751446	0.69533	.	.	ENSG00000026559	ENST00000371571;ENST00000396017;ENST00000439216;ENST00000424171;ENST00000433903;ENST00000447736	D;D;D;D	0.97772	-4.53;-2.61;-3.19;-3.5	5.73	5.73	0.89815	.	0.279871	0.41605	D	0.000860	D	0.97854	0.9295	L	0.51422	1.61	0.58432	D	0.999998	D;P	0.76494	0.999;0.913	P;B	0.61592	0.891;0.089	D	0.97582	1.0111	9	.	.	.	.	18.1592	0.89703	0.0:0.0:1.0:0.0	.	5;5	Q9UIX4-2;Q9UIX4	.;KCNG1_HUMAN	L	5	ENSP00000360626:P5L;ENSP00000379338:P5L;ENSP00000394075:P5L;ENSP00000394093:P5L	.	P	-	2	0	KCNG1	49060269	1.000000	0.71417	0.995000	0.50966	0.924000	0.55760	8.856000	0.92245	2.720000	0.93068	0.555000	0.69702	CCG		PASS	0.622	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		29	16	29	16	---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50342406	50342406	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr20:50342406A>T	ENST00000338821.5	-	3	543	c.279T>A	c.(277-279)ttT>ttA	p.F93L	ATP9A_ENST00000311637.5_Missense_Mutation_p.F78L|ATP9A_ENST00000402822.1_Missense_Mutation_p.F93L|ATP9A_ENST00000477492.1_5'UTR	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	93					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.F93L(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTTCGGGAACAAACTGAGAGC	0.423																																						uc002xwg.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(277-279)TTT>TTA		ATPase, class II, type 9A							94.0	92.0	92.0					20																	50342406		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50342406A>T	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.279T>A	20.37:g.50342406A>T	ENSP00000342481:p.Phe93Leu					ATP9A_uc010gih.1_Missense_Mutation_p.F78L	p.F93L	NM_006045	NP_006036	O75110	ATP9A_HUMAN			3	279	-			93			Extracellular (Potential).		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.279T>A	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.039475	0.55003	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.77229	-1.08;-1.08;-1.08	5.49	-0.656	0.11436	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.100629	0.64402	D	0.000001	T	0.52933	0.1765	N	0.11000	0.08	0.22947	N	0.998526	B;B	0.28667	0.009;0.219	B;B	0.27380	0.006;0.079	T	0.42616	-0.9441	10	0.17369	T	0.5	-19.0839	9.6597	0.39947	0.6348:0.0:0.3652:0.0	.	93;93	O75110-2;O75110	.;ATP9A_HUMAN	L	78;93;93	ENSP00000309086:F78L;ENSP00000342481:F93L;ENSP00000385875:F93L	ENSP00000309086:F78L	F	-	3	2	ATP9A	49775813	1.000000	0.71417	0.911000	0.35937	0.977000	0.68977	1.431000	0.34925	-0.410000	0.07542	0.533000	0.62120	TTT		PASS	0.423	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		18	111	18	111	---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60887294	60887294	+	Missense_Mutation	SNP	C	C	T	rs534944818	byFrequency	TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr20:60887294C>T	ENST00000252999.3	-	69	9505	c.9439G>A	c.(9439-9441)Gtc>Atc	p.V3147I	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3147	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.V3147I(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCGGAGTAGACGTTGCCAGTG	0.682																																						uc002ycq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(9439-9441)GTC>ATC		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						36.0	38.0	37.0					20																	60887294		2190	4291	6481	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60887294C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9439G>A	20.37:g.60887294C>T	ENSP00000252999:p.Val3147Ile						p.V3147I	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		69	9506	-	Breast(26;1.57e-08)		3147			Laminin G-like 3.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.9439G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	5.516	0.280152	0.10458	.	.	ENSG00000130702	ENST00000252999	T	0.19250	2.16	4.06	-1.75	0.08031	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.234295	0.43919	N	0.000515	T	0.08846	0.0219	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23904	-1.0175	10	0.19590	T	0.45	.	3.9491	0.09361	0.279:0.3269:0.0:0.3941	.	3147	O15230	LAMA5_HUMAN	I	3147	ENSP00000252999:V3147I	ENSP00000252999:V3147I	V	-	1	0	LAMA5	60320689	0.016000	0.18221	0.108000	0.21378	0.108000	0.19459	0.367000	0.20382	-0.084000	0.12595	-0.261000	0.10672	GTC		PASS	0.682	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		8	31	8	31	---	---	---	---
OGFR	11054	broad.mit.edu	37	20	61444298	61444298	+	Missense_Mutation	SNP	G	G	A	rs41310199		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr20:61444298G>A	ENST00000290291.6	+	7	1356	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	OGFR_ENST00000370461.1_Missense_Mutation_p.R392H	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	444					opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)	p.R444H(1)		endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CAGCCCTGCCGCCAACCCCTG	0.687																																						uc002ydj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1330-1332)CGC>CAC		opioid growth factor receptor							27.0	32.0	30.0					20																	61444298		2192	4297	6489	SO:0001583	missense	11054				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity	g.chr20:61444298G>A	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1331G>A	20.37:g.61444298G>A	ENSP00000290291:p.Arg444His					OGFR_uc002ydk.2_Missense_Mutation_p.R427H|OGFR_uc002ydl.2_Missense_Mutation_p.R392H|uc011aam.1_Silent_p.G115G	p.R444H	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN			7	1366	+	Breast(26;3.65e-08)		444					O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	c.1331G>A	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.731950	0.48939	.	.	ENSG00000060491	ENST00000290291;ENST00000357163;ENST00000370469;ENST00000370461	T;T	0.32515	1.89;1.45	4.99	-1.76	0.08006	.	1.325690	0.05179	N	0.500960	T	0.12008	0.0292	N	0.08118	0	0.09310	N	1	P;P;P	0.45212	0.853;0.765;0.765	B;B;B	0.32289	0.143;0.143;0.143	T	0.14364	-1.0475	10	0.44086	T	0.13	-2.4671	5.2082	0.15302	0.0:0.4224:0.146:0.4316	rs41310199	444;427;444	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	H	444;444;299;392	ENSP00000290291:R444H;ENSP00000359491:R392H	ENSP00000290291:R444H	R	+	2	0	OGFR	60914743	0.000000	0.05858	0.002000	0.10522	0.067000	0.16453	0.149000	0.16243	-0.696000	0.05098	-0.234000	0.12200	CGC		PASS	0.687	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			5	40	5	40	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61527695	61527695	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr20:61527695T>C	ENST00000266070.4	-	8	2429	c.2104A>G	c.(2104-2106)Att>Gtt	p.I702V	DIDO1_ENST00000395343.1_Missense_Mutation_p.I702V|DIDO1_ENST00000395335.2_Missense_Mutation_p.I702V|DIDO1_ENST00000395340.1_Missense_Mutation_p.I702V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	702	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.I702V(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGAGGGCAATTTTTCCTACT	0.358																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(2104-2106)ATT>GTT		death inducer-obliterator 1 isoform c							117.0	107.0	110.0					20																	61527695		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61527695T>C	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2104A>G	20.37:g.61527695T>C	ENSP00000266070:p.Ile702Val					DIDO1_uc002yds.1_Missense_Mutation_p.I702V|DIDO1_uc002ydt.1_Missense_Mutation_p.I702V|DIDO1_uc002ydu.1_Missense_Mutation_p.I702V	p.I702V	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			8	2368	-	Breast(26;5.68e-08)		702			TFIIS central.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.2104A>G	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	T	5.395	0.258028	0.10239	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.97	-0.548	0.11833	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.157768	0.29053	N	0.013296	T	0.20210	0.0486	N	0.08118	0	0.54753	D	0.999986	B;B	0.14805	0.009;0.011	B;B	0.17098	0.004;0.017	T	0.08764	-1.0706	10	0.18710	T	0.47	-7.2868	12.36	0.55197	0.0:0.5328:0.0:0.4672	.	702;702	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	V	702	ENSP00000266070:I702V;ENSP00000378752:I702V;ENSP00000378749:I702V;ENSP00000378744:I702V	ENSP00000266070:I702V	I	-	1	0	DIDO1	60998140	0.525000	0.26290	0.000000	0.03702	0.846000	0.48090	0.776000	0.26704	-0.343000	0.08351	0.533000	0.62120	ATT		PASS	0.358	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		9	67	9	67	---	---	---	---
KCNQ2	3785	broad.mit.edu	37	20	62038588	62038588	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr20:62038588G>T	ENST00000359125.2	-	17	2202	c.2028C>A	c.(2026-2028)agC>agA	p.S676R	KCNQ2_ENST00000344462.4_Missense_Mutation_p.S645R|KCNQ2_ENST00000360480.3_Missense_Mutation_p.S648R|KCNQ2_ENST00000370224.1_Missense_Mutation_p.S684R|KCNQ2_ENST00000354587.3_Missense_Mutation_p.S684R|KCNQ2_ENST00000357249.2_Missense_Mutation_p.S658R|KCNQ2_ENST00000359689.1_Missense_Mutation_p.S676R	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	676					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.S676R(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CATGCTCCCGGCTGTCTTCCG	0.682																																						uc002yey.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2026-2028)AGC>AGA		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)						15.0	18.0	17.0					20																	62038588		2192	4284	6476	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62038588G>T	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.2028C>A	20.37:g.62038588G>T	ENSP00000352035:p.Ser676Arg					KCNQ2_uc002yez.1_Missense_Mutation_p.S645R|KCNQ2_uc002yfa.1_Missense_Mutation_p.S658R|KCNQ2_uc002yfb.1_Missense_Mutation_p.S648R	p.S676R	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		17	2205	-	all_cancers(38;1.24e-11)		676			Cytoplasmic (Potential).		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.2028C>A	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485518	0.44147	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	D;D;D;D;D;D;D;D;D	0.99136	-5.31;-5.46;-5.47;-5.24;-5.46;-5.32;-5.3;-5.4;-5.24	5.06	5.06	0.68205	.	0.349704	0.34932	N	0.003577	D	0.97614	0.9218	N	0.19112	0.55	0.41661	D	0.989189	P;P;P;P	0.43826	0.673;0.818;0.818;0.722	P;P;P;B	0.48189	0.485;0.57;0.57;0.164	D	0.99331	1.0909	10	0.59425	D	0.04	-25.7572	18.4055	0.90535	0.0:0.0:1.0:0.0	.	648;658;645;676	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	R	658;676;646;684;676;645;648;672;684	ENSP00000349789:S658R;ENSP00000352035:S676R;ENSP00000359246:S646R;ENSP00000346601:S684R;ENSP00000352718:S676R;ENSP00000399612:S645R;ENSP00000353668:S648R;ENSP00000339611:S672R;ENSP00000359244:S684R	ENSP00000339611:S672R	S	-	3	2	KCNQ2	61509032	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	5.770000	0.68873	2.359000	0.80004	0.491000	0.48974	AGC		PASS	0.682	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		27	14	27	14	---	---	---	---
C20orf195	79025	broad.mit.edu	37	20	62187601	62187601	+	Silent	SNP	C	C	A	rs73598377		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr20:62187601C>A	ENST00000370098.3	+	2	677	c.585C>A	c.(583-585)acC>acA	p.T195T	C20orf195_ENST00000370097.1_Silent_p.T195T	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	195						extracellular vesicular exosome (GO:0070062)		p.T195T(1)		large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TCAGTGCCACCAAGATCCCGC	0.642																																						uc002yfj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(583-585)ACC>ACA		hypothetical protein LOC79025							87.0	88.0	88.0					20																	62187601		2203	4300	6503	SO:0001819	synonymous_variant	79025							g.chr20:62187601C>A		CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.585C>A	20.37:g.62187601C>A						C20orf195_uc002yfk.2_Silent_p.T195T	p.T195T	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		2	677	+	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		195						Silent	SNP	ENST00000370098.3	37	c.585C>A	CCDS13526.1																																																																																				PASS	0.642	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	NM_024059		121	57	121	57	---	---	---	---
TPD52L2	7165	broad.mit.edu	37	20	62505156	62505156	+	Nonsense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr20:62505156C>T	ENST00000346249.4	+	3	377	c.301C>T	c.(301-303)Cag>Tag	p.Q101*	TPD52L2_ENST00000217121.5_Nonsense_Mutation_p.Q101*|TPD52L2_ENST00000358548.4_Nonsense_Mutation_p.Q101*|TPD52L2_ENST00000348257.5_Nonsense_Mutation_p.Q101*|TPD52L2_ENST00000351424.4_Nonsense_Mutation_p.Q101*|TPD52L2_ENST00000369927.4_Nonsense_Mutation_p.Q78*|TPD52L2_ENST00000352482.4_Nonsense_Mutation_p.Q101*	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2	101					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.Q101*(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					GCATGACGTGCAGGTCTCTAG	0.667																																						uc002yhc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(301-303)CAG>TAG		tumor protein D52-like 2 isoform e							34.0	33.0	34.0					20																	62505156		2201	4296	6497	SO:0001587	stop_gained	7165				regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity	g.chr20:62505156C>T	AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150			12007	protein-coding gene	gene with protein product		603747				9484778	Standard	NM_199360		Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000346249.4:c.301C>T	20.37:g.62505156C>T	ENSP00000343547:p.Gln101*					TPD52L2_uc002ygy.2_Nonsense_Mutation_p.Q101*|TPD52L2_uc002ygz.2_Nonsense_Mutation_p.Q101*|TPD52L2_uc002yha.2_Nonsense_Mutation_p.Q101*|TPD52L2_uc002yhb.2_Nonsense_Mutation_p.Q101*|TPD52L2_uc002yhd.2_Nonsense_Mutation_p.Q101*|TPD52L2_uc011abk.1_Nonsense_Mutation_p.Q52*|TPD52L2_uc011abl.1_Nonsense_Mutation_p.Q78*|TPD52L2_uc002yhe.2_Silent_p.C3C	p.Q101*	NM_003288	NP_003279	O43399	TPD54_HUMAN			3	430	+	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)		101					B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Nonsense_Mutation	SNP	ENST00000346249.4	37	c.301C>T	CCDS13540.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920039	0.73098	.	.	ENSG00000101150	ENST00000369927;ENST00000346249;ENST00000348257;ENST00000352482;ENST00000351424;ENST00000217121;ENST00000358548	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-21.6772	14.0246	0.64577	0.0:0.8486:0.1514:0.0	.	.	.	.	X	78;101;101;101;101;101;101	.	ENSP00000217121:Q101X	Q	+	1	0	TPD52L2	61975600	1.000000	0.71417	0.995000	0.50966	0.014000	0.08584	4.565000	0.60836	2.687000	0.91594	0.585000	0.79938	CAG		PASS	0.667	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080248.1			5	14	5	14	---	---	---	---
SOX18	54345	broad.mit.edu	37	20	62680665	62680665	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr20:62680665G>A	ENST00000340356.7	-	1	329	c.205C>T	c.(205-207)Ctc>Ttc	p.L69F	ZNF512B_ENST00000450537.1_5'Flank	NM_018419.2	NP_060889.1	P35713	SOX18_HUMAN	SRY (sex determining region Y)-box 18	69					angiogenesis (GO:0001525)|blood vessel endothelial cell migration (GO:0043534)|cell maturation (GO:0048469)|embryonic heart tube development (GO:0035050)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|establishment of endothelial barrier (GO:0061028)|hair cycle process (GO:0022405)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell proliferation (GO:0072091)|stem cell fate specification (GO:0048866)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)	nuclear chromatin (GO:0000790)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.L69F(1)		lung(3)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GCCGGGCTGAGGCCATAgcgc	0.806																																					GBM(27;64 690 17108 39708)	uc002yhs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(205-207)CTC>TTC		SRY-box 18							10.0	12.0	12.0					20																	62680665		2108	4119	6227	SO:0001583	missense	54345				angiogenesis|blood vessel endothelial cell migration|endocardial cell differentiation|endocardium formation|establishment of endothelial barrier|heart looping|lymphangiogenesis|lymphatic endothelial cell differentiation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|positive regulation of transcription from RNA polymerase II promoter|vasculogenesis	nucleus	transcription regulatory region DNA binding	g.chr20:62680665G>A	AB033888	CCDS13552.1	20q13.33	2008-07-28			ENSG00000203883	ENSG00000203883		"""SRY (sex determining region Y)-boxes"""	11194	protein-coding gene	gene with protein product		601618				10807548	Standard	NM_018419		Approved		uc002yhs.3	P35713	OTTHUMG00000033017	ENST00000340356.7:c.205C>T	20.37:g.62680665G>A	ENSP00000341815:p.Leu69Phe						p.L69F	NM_018419	NP_060889	P35713	SOX18_HUMAN			1	315	-	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		69					Q0VGA9|Q9NPH8	Missense_Mutation	SNP	ENST00000340356.7	37	c.205C>T	CCDS13552.1	.	.	.	.	.	.	.	.	.	.	g	2.754	-0.259458	0.05791	.	.	ENSG00000203883	ENST00000340356	D	0.97850	-4.57	2.46	0.0352	0.14187	High mobility group, superfamily (1);	0.894303	0.09476	N	0.797028	D	0.92469	0.7609	N	0.25485	0.75	0.19300	N	0.999971	B	0.06786	0.001	B	0.04013	0.001	T	0.83259	-0.0049	10	0.09843	T	0.71	.	5.9838	0.19421	0.5713:0.0:0.4287:0.0	.	69	P35713	SOX18_HUMAN	F	69	ENSP00000341815:L69F	ENSP00000341815:L69F	L	-	1	0	SOX18	62151109	0.001000	0.12720	0.963000	0.40424	0.712000	0.41017	0.509000	0.22707	0.207000	0.20607	0.197000	0.17608	CTC		PASS	0.806	SOX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080265.1			23	15	23	15	---	---	---	---
BACE2	25825	broad.mit.edu	37	21	42551398	42551398	+	Intron	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr21:42551398G>C	ENST00000330333.6	+	1	775				PLAC4_ENST00000536486.1_RNA|PLAC4_ENST00000440221.2_RNA|PLAC4_ENST00000430327.2_RNA|BACE2_ENST00000328735.6_Intron|PLAC4_ENST00000414699.1_RNA|BACE2-IT1_ENST00000433378.1_RNA|BACE2_ENST00000347667.5_Intron	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CCAGGGTGCAGAGTGAGGTGT	0.617																																						uc002yyz.2																			0					0						c.(157-159)TCT>TGT		placenta-specific 4							126.0	107.0	113.0					21																	42551398		2195	4281	6476	SO:0001627	intron_variant	191585							g.chr21:42551398G>C	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.312+10896G>C	21.37:g.42551398G>C						BACE2_uc002yyw.2_Intron|BACE2_uc002yyx.2_Intron|BACE2_uc002yyy.2_Intron	p.S53C	NM_182832	NP_878252	Q8WY50	PLAC4_HUMAN			1	5769	-		Prostate(19;2.29e-06)	53					A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	c.158C>G	CCDS13668.1																																																																																				PASS	0.617	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			9	14	9	14	---	---	---	---
KRTAP10-1	386677	broad.mit.edu	37	21	45959496	45959496	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr21:45959496G>T	ENST00000400375.1	-	1	582	c.538C>A	c.(538-540)Cag>Aag	p.Q180K	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	180	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.Q180K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CAGGCCTGCTGGCAGGGGGAG	0.622																																						uc002zfh.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(538-540)CAG>AAG		keratin associated protein 10-1							120.0	126.0	124.0					21																	45959496		2203	4300	6503	SO:0001583	missense	386677					keratin filament		g.chr21:45959496G>T	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.538C>A	21.37:g.45959496G>T	ENSP00000383226:p.Gln180Lys					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.Q180K	NM_198691	NP_941964	P60331	KR101_HUMAN			1	583	-			180			24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	37	c.538C>A	CCDS42954.1	.	.	.	.	.	.	.	.	.	.	g	5.430	0.264518	0.10294	.	.	ENSG00000215455	ENST00000400375;ENST00000545982	T	0.01455	4.87	2.61	1.69	0.24217	.	.	.	.	.	T	0.04497	0.0123	M	0.91196	3.185	0.20074	N	0.999933	B	0.18968	0.032	B	0.19666	0.026	T	0.35101	-0.9802	9	0.22109	T	0.4	.	8.655	0.34058	0.0:0.0:0.7698:0.2302	.	180	P60331	KR101_HUMAN	K	180	ENSP00000383226:Q180K	ENSP00000383226:Q180K	Q	-	1	0	KRTAP10-1	44783924	0.001000	0.12720	0.411000	0.26484	0.731000	0.41821	-0.334000	0.07883	0.631000	0.30412	0.491000	0.48974	CAG		PASS	0.622	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			71	102	71	102	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20939445	20939445	+	Silent	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr22:20939445C>T	ENST00000263205.7	+	16	2091	c.2022C>T	c.(2020-2022)atC>atT	p.I674I	MED15_ENST00000382974.2_Silent_p.I563I|MED15_ENST00000541476.1_Silent_p.I608I|MED15_ENST00000292733.7_Silent_p.I634I|MED15_ENST00000406969.1_Silent_p.I608I|MED15_ENST00000425759.2_Silent_p.I523I|MED15_ENST00000542773.1_3'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	674					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.I674I(1)|p.I634I(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GGCAGAGCATCCCCAGTGTGC	0.637																																						uc002zsp.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(2020-2022)ATC>ATT		mediator complex subunit 15 isoform a							84.0	68.0	73.0					22																	20939445		2203	4300	6503	SO:0001819	synonymous_variant	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20939445C>T	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.2022C>T	22.37:g.20939445C>T						MED15_uc002zsq.2_Silent_p.I634I|MED15_uc010gso.2_Silent_p.I617I|MED15_uc002zsr.2_Silent_p.I608I|MED15_uc011ahs.1_Silent_p.I608I|MED15_uc002zss.2_Silent_p.I553I|MED15_uc011ahu.1_Silent_p.I384I|MED15_uc002zst.2_Silent_p.I290I|MED15_uc002zsu.2_Silent_p.I279I	p.I674I	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		16	2102	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	674					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Silent	SNP	ENST00000263205.7	37	c.2022C>T	CCDS33602.1																																																																																				PASS	0.637	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		7	46	7	46	---	---	---	---
ZNF70	7621	broad.mit.edu	37	22	24086193	24086193	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr22:24086193G>C	ENST00000341976.3	-	2	1595	c.1135C>G	c.(1135-1137)Ctg>Gtg	p.L379V		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	379					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.L379V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TGCTGGATCAGCGCAGAGCTG	0.587																																						uc002zxs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1135-1137)CTG>GTG		zinc finger protein 70							104.0	92.0	96.0					22																	24086193		2203	4300	6503	SO:0001583	missense	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24086193G>C	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.1135C>G	22.37:g.24086193G>C	ENSP00000339314:p.Leu379Val					ZNF70_uc002zxr.1_5'Flank	p.L379V	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN			2	1596	-			379			C2H2-type 9.			Missense_Mutation	SNP	ENST00000341976.3	37	c.1135C>G	CCDS13812.1	.	.	.	.	.	.	.	.	.	.	G	9.501	1.103283	0.20632	.	.	ENSG00000187792	ENST00000341976	T	0.52983	0.64	3.16	3.16	0.36331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.58148	0.2102	M	0.82923	2.615	0.24219	N	0.995443	P	0.47841	0.901	P	0.47206	0.541	T	0.55535	-0.8126	9	0.66056	D	0.02	-15.0559	12.6299	0.56651	0.0:0.0:1.0:0.0	.	379	Q9UC06	ZNF70_HUMAN	V	379	ENSP00000339314:L379V	ENSP00000339314:L379V	L	-	1	2	ZNF70	22416193	0.998000	0.40836	0.138000	0.22173	0.462000	0.32619	2.731000	0.47343	2.090000	0.63153	0.555000	0.69702	CTG		PASS	0.587	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		37	41	37	41	---	---	---	---
EIF3D	8664	broad.mit.edu	37	22	36907704	36907704	+	Silent	SNP	G	G	A	rs371162938		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr22:36907704G>A	ENST00000216190.8	-	14	1849	c.1479C>T	c.(1477-1479)tgC>tgT	p.C493C	EIF3D_ENST00000405442.1_Silent_p.C493C|EIF3D_ENST00000478547.1_5'Flank|EIF3D_ENST00000541106.1_Silent_p.C444C	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D									p.C493C(1)		cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						TGTCAATGACGCAGCGTAAAA	0.552											OREG0026522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003apq.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1477-1479)TGC>TGT		eukaryotic translation initiation factor 3							156.0	119.0	131.0					22																	36907704		2203	4300	6503	SO:0001819	synonymous_variant	8664					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:36907704G>A	U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"""eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"""	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.1479C>T	22.37:g.36907704G>A			OREG0026522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	866	EIF3D_uc011amr.1_Silent_p.C320C|EIF3D_uc003apr.2_Silent_p.C493C|EIF3D_uc011ams.1_Silent_p.C396C|EIF3D_uc011amt.1_Silent_p.C444C	p.C493C	NM_003753	NP_003744	O15371	EIF3D_HUMAN			14	1595	-			493						Silent	SNP	ENST00000216190.8	37	c.1479C>T	CCDS13930.1																																																																																				PASS	0.552	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1			4	55	4	55	---	---	---	---
PLA2G6	8398	broad.mit.edu	37	22	38512212	38512212	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr22:38512212C>G	ENST00000332509.3	-	13	1932	c.1749G>C	c.(1747-1749)atG>atC	p.M583I	PLA2G6_ENST00000402064.1_Missense_Mutation_p.M529I|PLA2G6_ENST00000335539.3_Missense_Mutation_p.M529I	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	583	Patatin.				cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)	p.M583I(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TCCCTGTCAGCATCACCCTGG	0.597																																						uc003auy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1747-1749)ATG>ATC		phospholipase A2, group VI isoform a	Quinacrine(DB01103)						61.0	59.0	59.0					22																	38512212		2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38512212C>G	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.1749G>C	22.37:g.38512212C>G	ENSP00000333142:p.Met583Ile					PLA2G6_uc003auz.1_Missense_Mutation_p.M529I|PLA2G6_uc003ava.1_Missense_Mutation_p.M583I|PLA2G6_uc003avb.2_Missense_Mutation_p.M529I|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc003aux.1_5'Flank	p.M583I	NM_003560	NP_003551	O60733	PA2G6_HUMAN			13	1885	-	Melanoma(58;0.045)		583					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.1749G>C	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846902	0.51164	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.78246	-1.16;-1.16;-1.16	4.68	4.68	0.58851	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.079216	0.85682	D	0.000000	T	0.64260	0.2582	N	0.12887	0.27	0.80722	D	1	B;B	0.31893	0.11;0.345	B;B	0.37346	0.018;0.247	T	0.65092	-0.6252	10	0.38643	T	0.18	-35.0987	12.1594	0.54096	0.3006:0.6994:0.0:0.0	.	529;583	O60733-2;O60733	.;PA2G6_HUMAN	I	583;444;529;529	ENSP00000333142:M583I;ENSP00000335149:M529I;ENSP00000386100:M529I	ENSP00000333142:M583I	M	-	3	0	PLA2G6	36842158	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.613000	0.46351	2.142000	0.66516	0.563000	0.77884	ATG		PASS	0.597	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		18	19	18	19	---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46859807	46859807	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr22:46859807G>A	ENST00000262738.3	-	2	3979	c.3980C>T	c.(3979-3981)tCc>tTc	p.S1327F	CELSR1_ENST00000395964.1_Missense_Mutation_p.S1327F	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1327	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.S1327F(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAAGGGCGCGGAGCTGTCGAA	0.662																																						uc003bhw.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(3979-3981)TCC>TTC		cadherin EGF LAG seven-pass G-type receptor 1							97.0	72.0	80.0					22																	46859807		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46859807G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3980C>T	22.37:g.46859807G>A	ENSP00000262738:p.Ser1327Phe						p.S1327F	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	2	3980	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1327			Extracellular (Potential).|EGF-like 1; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.3980C>T	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.06|17.06	3.291704|3.291704	0.59976|0.59976	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000454637|ENST00000262738;ENST00000395964	.|T;T	.|0.38077	.|1.16;1.16	4.75|4.75	4.75|4.75	0.60458|0.60458	.|Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|0.000000	.|0.64402	.|U	.|0.000011	T|T	0.57917|0.57917	0.2086|0.2086	M|M	0.65320|0.65320	2|2	0.39860|0.39860	D|D	0.973366|0.973366	.|D	.|0.67145	.|0.996	.|D	.|0.70227	.|0.968	T|T	0.64753|0.64753	-0.6333|-0.6333	5|10	.|0.87932	.|D	.|0	.|.	17.3622|17.3622	0.87354|0.87354	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1327	.|Q9NYQ6	.|CELR1_HUMAN	S|F	702|1327	.|ENSP00000262738:S1327F;ENSP00000379293:S1327F	.|ENSP00000262738:S1327F	P|S	-|-	1|2	0|0	CELSR1|CELSR1	45238471|45238471	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.952000|0.952000	0.60782|0.60782	5.077000|5.077000	0.64419|0.64419	2.173000|2.173000	0.68751|0.68751	0.655000|0.655000	0.94253|0.94253	CCG|TCC		PASS	0.662	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		5	31	5	31	---	---	---	---
BRD1	23774	broad.mit.edu	37	22	50187932	50187932	+	Missense_Mutation	SNP	C	C	A	rs371713541		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr22:50187932C>A	ENST00000216267.8	-	6	2595	c.2109G>T	c.(2107-2109)ttG>ttT	p.L703F	BRD1_ENST00000342989.5_Missense_Mutation_p.L298F|BRD1_ENST00000404034.1_Missense_Mutation_p.L703F|BRD1_ENST00000457780.2_Missense_Mutation_p.L703F|BRD1_ENST00000542442.1_Missense_Mutation_p.L391F|BRD1_ENST00000404760.1_Missense_Mutation_p.L703F	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	703					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.L298F(1)|p.L703F(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGGGGTCCAGCAACCTGTCCA	0.602																																						uc003biv.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(2107-2109)TTG>TTT		bromodomain containing protein 1							59.0	63.0	62.0					22																	50187932		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50187932C>A	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2109G>T	22.37:g.50187932C>A	ENSP00000216267:p.Leu703Phe					BRD1_uc011arf.1_Missense_Mutation_p.L298F|BRD1_uc011arg.1_Missense_Mutation_p.L752F|BRD1_uc011arh.1_Missense_Mutation_p.L703F|BRD1_uc003biu.3_Missense_Mutation_p.L703F	p.L703F	NM_014577	NP_055392	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	6	2596	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	703					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.2109G>T	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.582319	0.46006	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.30448	2.44;2.44;2.41;2.2;1.53;1.84	5.4	0.546	0.17196	.	0.069485	0.64402	D	0.000016	T	0.46946	0.1419	M	0.70595	2.14	0.53005	D	0.999961	D;P;D;D	0.89917	1.0;0.765;0.999;1.0	D;B;D;D	0.77004	0.974;0.353;0.974;0.989	T	0.35076	-0.9803	10	0.48119	T	0.1	.	7.59	0.28015	0.0:0.4774:0.0:0.5226	.	703;298;703;703	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	F	703;703;703;703;391;298;163	ENSP00000216267:L703F;ENSP00000384076:L703F;ENSP00000385858:L703F;ENSP00000410042:L703F;ENSP00000437514:L391F;ENSP00000345886:L298F	ENSP00000216267:L703F	L	-	3	2	BRD1	48573936	0.869000	0.29996	1.000000	0.80357	0.998000	0.95712	-0.038000	0.12144	0.266000	0.21894	0.655000	0.94253	TTG		PASS	0.602	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		36	46	36	46	---	---	---	---
SHANK3	85358	broad.mit.edu	37	22	51117572	51117572	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr22:51117572G>T	ENST00000414786.2	+	6	953	c.726G>T	c.(724-726)caG>caT	p.Q242H	SHANK3_ENST00000445220.2_Missense_Mutation_p.Q242H|SHANK3_ENST00000262795.3_Missense_Mutation_p.Q242H			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	242					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.Q242H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		ACCACGCTCAGCTGGGGATCA	0.667																																						uc003bne.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(724-726)CAG>CAT		SH3 and multiple ankyrin repeat domains 3							16.0	19.0	18.0					22																	51117572		2052	4172	6224	SO:0001583	missense	85358							g.chr22:51117572G>T	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.726G>T	22.37:g.51117572G>T	ENSP00000464552:p.Gln242His						p.Q242H	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	6	726	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	242					D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37	c.726G>T		.	.	.	.	.	.	.	.	.	.	G	15.41	2.825099	0.50739	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.53206	0.63;0.63	5.18	0.69	0.18039	.	.	.	.	.	T	0.33059	0.0850	L	0.33668	1.02	0.09310	N	0.999998	B	0.22146	0.065	B	0.21917	0.037	T	0.29731	-1.0002	9	0.62326	D	0.03	.	5.021	0.14361	0.3357:0.1428:0.5215:0.0	.	242	F2Z3L0	.	H	242	ENSP00000442518:Q242H;ENSP00000446078:Q242H	ENSP00000442518:Q242H	Q	+	3	2	SHANK3	49464438	0.001000	0.12720	0.984000	0.44739	0.987000	0.75469	-0.079000	0.11357	0.212000	0.20703	-0.147000	0.13772	CAG		PASS	0.667	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		5	5	5	5	---	---	---	---
ASMTL	8623	broad.mit.edu	37	X	1554621	1554621	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chrX:1554621C>T	ENST00000381317.3	-	4	336	c.304G>A	c.(304-306)Gtg>Atg	p.V102M	ASMTL_ENST00000463763.1_5'Flank|ASMTL_ENST00000416733.2_Intron|ASMTL_ENST00000381333.4_Missense_Mutation_p.V86M|ASMTL_ENST00000534940.1_Missense_Mutation_p.V44M	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	102	MAF-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)	p.V102M(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCTTGTCCACCGGCTTCTCC	0.617																																						uc004cpx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)GTG>ATG		acetylserotonin O-methyltransferase-like							110.0	125.0	120.0					X																	1554621		1966	4135	6101	SO:0001583	missense	8623				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	g.chrX:1554621C>T	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.304G>A	X.37:g.1554621C>T	ENSP00000370718:p.Val102Met					ASMTL_uc011mhe.1_Intron|ASMTL_uc004cpy.1_Missense_Mutation_p.V86M|ASMTL_uc011mhf.1_Missense_Mutation_p.V44M	p.V102M	NM_004192	NP_004183	O95671	ASML_HUMAN			4	415	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	102			MAF-like.		B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	ENST00000381317.3	37	c.304G>A	CCDS43917.1	.	.	.	.	.	.	.	.	.	.	c	16.53	3.148286	0.57151	.	.	ENSG00000169093	ENST00000534940;ENST00000381333;ENST00000381317	T;T;T	0.01947	4.55;4.54;4.54	2.47	2.47	0.30058	.	0.775970	0.11256	U	0.583084	T	0.10723	0.0262	M	0.83312	2.635	0.18873	N	0.999989	D;P	0.62365	0.991;0.95	P;P	0.59056	0.851;0.705	T	0.07829	-1.0752	10	0.66056	D	0.02	.	11.1516	0.48462	0.0:1.0:0.0:0.0	.	86;102	O95671-2;O95671	.;ASML_HUMAN	M	44;86;102	ENSP00000446410:V44M;ENSP00000370734:V86M;ENSP00000370718:V102M	ENSP00000370718:V102M	V	-	1	0	ASMTL	1514621	0.757000	0.28394	0.982000	0.44146	0.993000	0.82548	2.166000	0.42406	0.841000	0.35020	0.525000	0.51046	GTG		PASS	0.617	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		19	49	19	49	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21609200	21609200	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chrX:21609200G>C	ENST00000379510.3	+	15	1754	c.1718G>C	c.(1717-1719)tGt>tCt	p.C573S	CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000543067.1_Missense_Mutation_p.C524S|CNKSR2_ENST00000279451.4_Missense_Mutation_p.C573S|CNKSR2_ENST00000425654.2_Missense_Mutation_p.C543S	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	573	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.C573S(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CGTGGTGACTGTGAGGGCTGG	0.398																																						uc004czx.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(1717-1719)TGT>TCT		connector enhancer of kinase suppressor of Ras							123.0	122.0	122.0					X																	21609200		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21609200G>C	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1718G>C	X.37:g.21609200G>C	ENSP00000368824:p.Cys573Ser					CNKSR2_uc004czw.2_Missense_Mutation_p.C573S|CNKSR2_uc011mjn.1_Missense_Mutation_p.C524S|CNKSR2_uc011mjo.1_Missense_Mutation_p.C543S|CNKSR2_uc004czy.2_Missense_Mutation_p.C165S	p.C573S	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			15	1754	+			573			PH.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.1718G>C	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655329	0.88056	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.29	5.29	0.74685	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.47451	0.1446	M	0.90369	3.11	0.80722	D	1	D;D;D;D	0.89917	0.985;1.0;1.0;0.989	D;D;D;D	0.97110	0.959;0.99;1.0;0.95	T	0.59397	-0.7462	10	0.87932	D	0	-12.1439	18.1345	0.89614	0.0:0.0:1.0:0.0	.	543;524;165;573	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	S	543;524;573;573	ENSP00000397906:C543S;ENSP00000444633:C524S;ENSP00000279451:C573S;ENSP00000368824:C573S	ENSP00000279451:C573S	C	+	2	0	CNKSR2	21519121	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.632000	0.83247	2.219000	0.72066	0.523000	0.50628	TGT		PASS	0.398	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		70	58	70	58	---	---	---	---
DCAF8L1	139425	broad.mit.edu	37	X	27999094	27999094	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chrX:27999094A>T	ENST00000441525.1	-	1	472	c.358T>A	c.(358-360)Tgt>Agt	p.C120S		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	120								p.C120S(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CATCGTGGACACATCCGAGGC	0.537																																						uc004dbx.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(358-360)TGT>AGT		DDB1 and CUL4 associated factor 8-like 1							156.0	83.0	108.0					X																	27999094		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27999094A>T		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.358T>A	X.37:g.27999094A>T	ENSP00000405222:p.Cys120Ser						p.C120S	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	473	-			120					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.358T>A	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	A	0.022	-1.416648	0.01136	.	.	ENSG00000226372	ENST00000441525	T	0.61627	0.09	0.842	0.842	0.18927	.	2.408670	0.02264	N	0.067828	T	0.32194	0.0821	N	0.08118	0	0.09310	N	0.999997	B	0.09022	0.002	B	0.06405	0.002	T	0.23940	-1.0174	10	0.08837	T	0.75	0.9634	2.7468	0.05270	0.6655:0.0:0.3345:0.0	.	120	A6NGE4	DC8L1_HUMAN	S	120	ENSP00000405222:C120S	ENSP00000405222:C120S	C	-	1	0	DCAF8L1	27909015	0.002000	0.14202	0.002000	0.10522	0.015000	0.08874	0.051000	0.14141	0.571000	0.29365	0.235000	0.17854	TGT		PASS	0.537	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		20	16	20	16	---	---	---	---
IL1RAPL1	11141	broad.mit.edu	37	X	29973346	29973346	+	Silent	SNP	T	T	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chrX:29973346T>A	ENST00000378993.1	+	11	2173	c.1500T>A	c.(1498-1500)ctT>ctA	p.L500L	IL1RAPL1_ENST00000302196.4_Silent_p.L500L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	500	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.L500L(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GAAATATGCTTGTGACTGGAG	0.443																																						uc004dby.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(1)|pancreas(1)	5						c.(1498-1500)CTT>CTA		interleukin 1 receptor accessory protein-like 1							90.0	83.0	86.0					X																	29973346		2202	4300	6502	SO:0001819	synonymous_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29973346T>A	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1500T>A	X.37:g.29973346T>A							p.L500L	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			11	2008	+			500			Cytoplasmic (Potential).|TIR.		A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	c.1500T>A	CCDS14218.1																																																																																				PASS	0.443	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		43	22	43	22	---	---	---	---
SYTL5	94122	broad.mit.edu	37	X	37965892	37965892	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chrX:37965892A>G	ENST00000357972.5	+	11	1748	c.1202A>G	c.(1201-1203)tAt>tGt	p.Y401C	SYTL5_ENST00000456733.2_Missense_Mutation_p.Y423C|SYTL5_ENST00000297875.2_Missense_Mutation_p.Y401C|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	401					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.Y401C(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						ACGGGAGACTATGGCAACGTG	0.423																																						uc004ddu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1201-1203)TAT>TGT		synaptotagmin-like 5 isoform 1							210.0	166.0	181.0					X																	37965892		2202	4300	6502	SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37965892A>G		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1202A>G	X.37:g.37965892A>G	ENSP00000350657:p.Tyr401Cys					SYTL5_uc004ddv.2_Missense_Mutation_p.Y401C|SYTL5_uc004ddx.2_Missense_Mutation_p.Y423C	p.Y401C	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN			12	1736	+			401					A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.1202A>G	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.328233	0.81690	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.08193	3.12;3.12;3.12	5.71	5.71	0.89125	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	M	0.72894	2.215	0.80722	D	1	D;P	0.89917	1.0;0.835	D;B	0.91635	0.999;0.186	T	0.01259	-1.1403	10	0.62326	D	0.03	-12.769	14.9521	0.71083	1.0:0.0:0.0:0.0	.	423;401	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	C	401;401;423	ENSP00000297875:Y401C;ENSP00000350657:Y401C;ENSP00000395220:Y423C	ENSP00000297875:Y401C	Y	+	2	0	SYTL5	37850836	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.102000	0.77005	1.913000	0.55393	0.481000	0.45027	TAT		PASS	0.423	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		3	53	3	53	---	---	---	---
RPGR	6103	broad.mit.edu	37	X	38164003	38164003	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chrX:38164003C>A	ENST00000339363.3	-	8	986	c.819G>T	c.(817-819)caG>caT	p.Q273H	RPGR_ENST00000309513.3_Missense_Mutation_p.Q273H|RPGR_ENST00000342811.3_Missense_Mutation_p.Q273H|RPGR_ENST00000318842.7_Missense_Mutation_p.Q273H|RPGR_ENST00000378505.2_Missense_Mutation_p.Q273H|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Missense_Mutation_p.Q273H			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	273					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)	p.Q273H(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CAAGACCCAGCTGACCAAATT	0.388																																						uc004ded.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(817-819)CAG>CAT		retinitis pigmentosa GTPase regulator isoform C							48.0	43.0	45.0					X																	38164003		2202	4300	6502	SO:0001583	missense	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38164003C>A	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.819G>T	X.37:g.38164003C>A	ENSP00000343671:p.Gln273His					RPGR_uc004deb.2_Missense_Mutation_p.Q273H|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA|RPGR_uc004dee.1_5'UTR	p.Q273H	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN			8	987	-			273			RCC1 5.		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.819G>T		.	.	.	.	.	.	.	.	.	.	c	14.32	2.499125	0.44455	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	5.5	-2.22	0.06952	.	0.000000	0.85682	D	0.000000	D	0.96880	0.8981	H	0.99404	4.55	0.46149	D	0.998893	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95131	0.8255	10	0.87932	D	0	.	11.9897	0.53168	0.0:0.4016:0.0:0.5984	.	273;273	E9PE28;Q92834-2	.;.	H	273	ENSP00000343671:Q273H;ENSP00000308783:Q273H;ENSP00000340208:Q273H;ENSP00000322219:Q273H;ENSP00000339531:Q273H;ENSP00000367766:Q273H	ENSP00000308783:Q273H	Q	-	3	2	RPGR	38048947	0.987000	0.35691	0.636000	0.29352	0.412000	0.31113	0.267000	0.18552	-0.728000	0.04882	-0.468000	0.05107	CAG		PASS	0.388	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		14	6	14	6	---	---	---	---
RIBC1	158787	broad.mit.edu	37	X	53455274	53455274	+	Silent	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chrX:53455274G>A	ENST00000375327.3	+	5	396	c.243G>A	c.(241-243)gaG>gaA	p.E81E	RIBC1_ENST00000414955.2_Intron|RIBC1_ENST00000457095.1_Silent_p.E81E	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	81								p.E81E(2)		lung(2)	2						AGATGTTAGAGAAGGAAGAGG	0.532																																						uc004dsk.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(241-243)GAG>GAA		RIB43A domain with coiled-coils 1 isoform 1							95.0	83.0	87.0					X																	53455274		2203	4300	6503	SO:0001819	synonymous_variant	158787							g.chrX:53455274G>A	AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.243G>A	X.37:g.53455274G>A						RIBC1_uc004dsj.1_Silent_p.E81E|RIBC1_uc011mog.1_Intron	p.E81E	NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN			5	396	+			81					B4E297|E9PDU2|Q5H931|Q96A80	Silent	SNP	ENST00000375327.3	37	c.243G>A	CCDS35299.1																																																																																				PASS	0.532	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056762.1	NM_144968		20	43	20	43	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73042695	73042695	+	lincRNA	SNP	C	C	T	rs375186074		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chrX:73042695C>T	ENST00000604411.1	+	0	30656				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		TCCTTAGTATCGAACATATCA	0.348																																						uc004ebn.2																			0					0								Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.		C		2,1414		0,2,539,334	61.0	62.0	62.0			1.7	0.0	X		62	0,3107		0,0,1116,875	no	intergenic				0,2,1655,1209	TT,TC,CC,C		0.0,0.1412,0.0442			73042695	2,4521	875	1991	2866			9383							g.chrX:73042695C>T			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73042695C>T						XIST_uc004ebm.1_RNA		NR_003255						1		+									RNA	SNP	ENST00000604411.1	37	c.30656C>T																																																																																					PASS	0.348	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		27	17	27	17	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91090520	91090520	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chrX:91090520G>T	ENST00000373094.1	+	1	862	c.17G>T	c.(16-18)gGg>gTg	p.G6V	PCDH11X_ENST00000361724.1_Missense_Mutation_p.G6V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.G6V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G6V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G6V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G6V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G6V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G6V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G6V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	6					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G6V(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTGTTGTCCGGGACGTACATT	0.483																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(16-18)GGG>GTG		protocadherin 11 X-linked isoform c							130.0	107.0	114.0					X																	91090520		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090520G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.17G>T	X.37:g.91090520G>T	ENSP00000362186:p.Gly6Val					PCDH11X_uc004efl.1_Missense_Mutation_p.G6V|PCDH11X_uc004efo.1_Missense_Mutation_p.G6V|PCDH11X_uc010nmv.1_Missense_Mutation_p.G6V|PCDH11X_uc004efm.1_Missense_Mutation_p.G6V|PCDH11X_uc004efn.1_Missense_Mutation_p.G6V|PCDH11X_uc004efh.1_Missense_Mutation_p.G6V|PCDH11X_uc004efj.1_Missense_Mutation_p.G6V	p.G6V	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	862	+			6					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.17G>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507061	0.44558	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.52057	0.68;0.71;0.72;0.68;0.74;0.71;0.7;0.73;0.74	4.46	4.46	0.54185	.	0.191668	0.38326	N	0.001732	T	0.47135	0.1429	N	0.08118	0	0.53005	D	0.999963	D;P;D;D;D;D;D;D	0.65815	0.973;0.732;0.995;0.995;0.995;0.992;0.987;0.987	P;P;D;D;D;P;P;P	0.64237	0.809;0.458;0.923;0.923;0.923;0.84;0.88;0.88	T	0.59295	-0.7481	10	0.66056	D	0.02	.	15.517	0.75833	0.0:0.0:1.0:0.0	.	6;6;6;6;6;6;6;6	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	V	6	ENSP00000378746:G6V;ENSP00000362186:G6V;ENSP00000362189:G6V;ENSP00000355040:G6V;ENSP00000362180:G6V;ENSP00000423762:G6V;ENSP00000355105:G6V;ENSP00000384758:G6V;ENSP00000298274:G6V	ENSP00000298274:G6V	G	+	2	0	PCDH11X	90977176	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	3.832000	0.55783	1.935000	0.56089	0.415000	0.27848	GGG		PASS	0.483	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		47	31	47	31	---	---	---	---
MORF4L2	9643	broad.mit.edu	37	X	102931868	102931868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chrX:102931868G>A	ENST00000441076.2	-	4	392	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000423833.2_Nonsense_Mutation_p.Q30*|MORF4L2_ENST00000433176.2_Nonsense_Mutation_p.Q30*|MORF4L2_ENST00000451301.1_Nonsense_Mutation_p.Q30*|MORF4L2_ENST00000360458.1_Nonsense_Mutation_p.Q30*|MORF4L2_ENST00000422154.2_Nonsense_Mutation_p.Q30*	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	30					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.Q30*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						TTACTTCTCTGCATGTTGCTT	0.478																																						uc004ekw.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(88-90)CAG>TAG		mortality factor 4 like 2							80.0	81.0	81.0					X																	102931868		2203	4300	6503	SO:0001587	stop_gained	9643				chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931868G>A	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.88C>T	X.37:g.102931868G>A	ENSP00000391969:p.Gln30*					MORF4L2_uc004ela.2_Nonsense_Mutation_p.Q30*|MORF4L2_uc004ekx.2_Nonsense_Mutation_p.Q30*|MORF4L2_uc004elb.2_Nonsense_Mutation_p.Q30*|MORF4L2_uc004eky.2_Nonsense_Mutation_p.Q30*|MORF4L2_uc010nos.2_Nonsense_Mutation_p.Q30*|MORF4L2_uc004ekz.2_Nonsense_Mutation_p.Q30*|MORF4L2_uc011mry.1_Nonsense_Mutation_p.Q30*|MORF4L2_uc011mrz.1_Nonsense_Mutation_p.Q30*|MORF4L2_uc004elc.2_Nonsense_Mutation_p.Q30*|MORF4L2_uc004elf.2_Nonsense_Mutation_p.Q30*|MORF4L2_uc004ele.2_Nonsense_Mutation_p.Q30*|MORF4L2_uc011msa.1_Nonsense_Mutation_p.Q30*|MORF4L2_uc011msb.1_Nonsense_Mutation_p.Q30*|MORF4L2_uc011msc.1_Nonsense_Mutation_p.Q30*|MORF4L2_uc011msd.1_Nonsense_Mutation_p.Q30*|MORF4L2_uc004eld.2_Nonsense_Mutation_p.Q30*	p.Q30*	NM_012286	NP_036418	Q15014	MO4L2_HUMAN			4	1320	-			30					B3KP92|D3DXA5|Q567V0|Q8J026	Nonsense_Mutation	SNP	ENST00000441076.2	37	c.88C>T	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078851	0.94050	.	.	ENSG00000123562	ENST00000360458;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833;ENST00000434230;ENST00000418819;ENST00000442614;ENST00000422355	.	.	.	4.43	3.56	0.40772	.	0.678279	0.14624	N	0.308210	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-20.6663	5.8647	0.18768	0.233:0.0:0.767:0.0	.	.	.	.	X	30	.	ENSP00000353643:Q30X	Q	-	1	0	MORF4L2	102818524	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.649000	0.54417	1.208000	0.43306	0.600000	0.82982	CAG		PASS	0.478	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		5	119	5	119	---	---	---	---
PRPS1	5631	broad.mit.edu	37	X	106888416	106888416	+	Silent	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chrX:106888416C>T	ENST00000372435.4	+	5	662	c.540C>T	c.(538-540)tcC>tcT	p.S180S	PRPS1_ENST00000372418.1_Silent_p.S80S|PRPS1_ENST00000543248.1_Silent_p.S180S|PRPS1_ENST00000372428.4_Silent_p.S113S	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	180					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|hypoxanthine biosynthetic process (GO:0046101)|nervous system development (GO:0007399)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|pyrimidine nucleotide biosynthetic process (GO:0006221)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|urate biosynthetic process (GO:0034418)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.S180S(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						GAGTGACCTCCATTGCAGACA	0.498																																						uc004ene.3																			1	Substitution - coding silent(1)		lung(1)	breast(3)|large_intestine(1)	4						c.(538-540)TCC>TCT		phosphoribosyl pyrophosphate synthetase 1							204.0	184.0	191.0					X																	106888416		2203	4300	6503	SO:0001819	synonymous_variant	5631				5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:106888416C>T	X15331	CCDS14529.1, CCDS76007.1	Xq22.3	2014-09-17			ENSG00000147224	ENSG00000147224	2.7.6.1		9462	protein-coding gene	gene with protein product	"""PRS I"", ""ribose-phosphate diphosphokinase 1"""	311850	"""deafness, X-linked 2, perceptive, congenital"""	DFN2		1962753, 20021999	Standard	NM_002764		Approved	CMTX5, DFNX1	uc004ene.4	P60891	OTTHUMG00000022167	ENST00000372435.4:c.540C>T	X.37:g.106888416C>T						PRPS1_uc010npg.2_Silent_p.S147S|PRPS1_uc011msj.1_5'UTR	p.S180S	NM_002764	NP_002755	P60891	PRPS1_HUMAN			5	745	+			180					B1ALA8|B2R6T7|B4DNL6|D3DUX6|P09329	Silent	SNP	ENST00000372435.4	37	c.540C>T	CCDS14529.1																																																																																				PASS	0.498	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057840.1			67	116	67	116	---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117809915	117809915	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chrX:117809915A>G	ENST00000276202.7	+	47	5279	c.5216A>G	c.(5215-5217)tAt>tGt	p.Y1739C	DOCK11_ENST00000276204.6_Missense_Mutation_p.Y1739C	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1739	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y1739C(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ACTCAAGTTTATAGAACTCTT	0.289																																						uc004eqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(5215-5217)TAT>TGT		dedicator of cytokinesis 11							31.0	30.0	30.0					X																	117809915		2202	4290	6492	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117809915A>G	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5216A>G	X.37:g.117809915A>G	ENSP00000276202:p.Tyr1739Cys					DOCK11_uc004eqq.2_Missense_Mutation_p.Y1518C	p.Y1739C	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			47	5279	+			1739			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.5216A>G	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	A	19.41	3.822071	0.71028	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.20463	2.08;2.07	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.51924	0.1703	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.60561	-0.7239	10	0.87932	D	0	-3.3646	13.81	0.63256	1.0:0.0:0.0:0.0	.	1739;1739	A6NIW2;Q5JSL3	.;DOC11_HUMAN	C	1739	ENSP00000276204:Y1739C;ENSP00000276202:Y1739C	ENSP00000276202:Y1739C	Y	+	2	0	DOCK11	117693943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.918000	0.92759	1.857000	0.53885	0.486000	0.48141	TAT		PASS	0.289	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		22	11	22	11	---	---	---	---
GRIA3	2892	broad.mit.edu	37	X	122537353	122537353	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chrX:122537353G>T	ENST00000371251.1	+	9	1328	c.1276G>T	c.(1276-1278)Gta>Tta	p.V426L	GRIA3_ENST00000542149.1_Missense_Mutation_p.V426L|GRIA3_ENST00000264357.5_Missense_Mutation_p.V426L|GRIA3_ENST00000541091.1_Missense_Mutation_p.V410L|GRIA3_ENST00000371256.5_Missense_Mutation_p.V426L			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	426					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.V426L(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TCGGACCATAGTAGTGACTAC	0.438																																						uc004etq.3																			3	Substitution - Missense(3)		lung(3)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1276-1278)GTA>TTA		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						161.0	145.0	151.0					X																	122537353		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122537353G>T	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1276G>T	X.37:g.122537353G>T	ENSP00000360297:p.Val426Leu					GRIA3_uc004etr.3_Missense_Mutation_p.V426L|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.V410L	p.V426L	NM_007325	NP_015564	P42263	GRIA3_HUMAN			10	1569	+			426			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.1276G>T	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198931	0.58126	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.52526	1.14;1.14;1.14;1.14;0.66	5.73	5.73	0.89815	Ionotropic glutamate receptor (1);	0.051975	0.85682	D	0.000000	T	0.45498	0.1345	L	0.60904	1.88	0.58432	D	0.999999	B;B;B	0.18013	0.021;0.014;0.025	B;B;B	0.20384	0.027;0.023;0.029	T	0.45056	-0.9287	10	0.87932	D	0	.	11.2537	0.49041	0.0847:0.0:0.9153:0.0	.	410;426;426	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	L	426;426;426;426;410	ENSP00000264357:V426L;ENSP00000446146:V426L;ENSP00000360302:V426L;ENSP00000360297:V426L;ENSP00000446440:V410L	ENSP00000264357:V426L	V	+	1	0	GRIA3	122365034	1.000000	0.71417	0.770000	0.31555	0.959000	0.62525	7.690000	0.84178	2.402000	0.81655	0.594000	0.82650	GTA		PASS	0.438	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		96	47	96	47	---	---	---	---
AFF2	2334	broad.mit.edu	37	X	147743938	147743938	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chrX:147743938C>G	ENST00000370460.2	+	3	1169	c.690C>G	c.(688-690)ttC>ttG	p.F230L	AFF2_ENST00000370458.1_Missense_Mutation_p.F226L|AFF2_ENST00000342251.3_Missense_Mutation_p.F226L|AFF2_ENST00000370457.5_Missense_Mutation_p.F226L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	230					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.F230L(2)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGATGCTTTCAAAGAAATCT	0.468																																						uc004fcp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(2)	5						c.(688-690)TTC>TTG		fragile X mental retardation 2							142.0	146.0	145.0					X																	147743938		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147743938C>G	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.690C>G	X.37:g.147743938C>G	ENSP00000359489:p.Phe230Leu					AFF2_uc004fco.2_Missense_Mutation_p.F226L|AFF2_uc004fcq.2_Missense_Mutation_p.F226L|AFF2_uc004fcr.2_Missense_Mutation_p.F226L|AFF2_uc011mxb.1_Missense_Mutation_p.F230L|AFF2_uc004fcs.2_Missense_Mutation_p.F226L	p.F230L	NM_002025	NP_002016	P51816	AFF2_HUMAN			3	1169	+	Acute lymphoblastic leukemia(192;6.56e-05)		230					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.690C>G	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.005794	0.54254	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.82	3.82	0.43975	.	0.305128	0.28889	N	0.013820	T	0.42471	0.1204	N	0.14661	0.345	0.80722	D	1	P;P;P;P;P;P	0.48407	0.89;0.89;0.89;0.89;0.91;0.907	B;B;B;B;P;P	0.45099	0.337;0.337;0.337;0.337;0.468;0.469	T	0.17899	-1.0354	10	0.17369	T	0.5	.	6.9598	0.24591	0.0:0.6178:0.0:0.3822	.	230;226;226;226;230;226	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	L	230;226;226;226	ENSP00000359489:F230L;ENSP00000359486:F226L;ENSP00000345459:F226L;ENSP00000359487:F226L	ENSP00000345459:F226L	F	+	3	2	AFF2	147551630	0.998000	0.40836	0.998000	0.56505	0.984000	0.73092	0.595000	0.24029	1.213000	0.43380	0.600000	0.82982	TTC		PASS	0.468	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		115	65	115	65	---	---	---	---
PCDH11Y	83259	broad.mit.edu	37	Y	5605740	5605740	+	Silent	SNP	C	C	T			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chrY:5605740C>T	ENST00000215473.6	+	6	3780	c.3780C>T	c.(3778-3780)ctC>ctT	p.L1260L				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1260					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1260L(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTATTGCCCTCCATCGTAGTC	0.547																																						uc004fqo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(3778-3780)CTC>CTT		protocadherin 11 Y-linked isoform c																																				SO:0001819	synonymous_variant	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:5605740C>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000215473.6:c.3780C>T	Y.37:g.5605740C>T							p.L1260L	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			5	4514	+			1260			Cytoplasmic (Potential).		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Silent	SNP	ENST00000215473.6	37	c.3780C>T																																																																																					PASS	0.547	PCDH11Y-201	KNOWN	basic	protein_coding	protein_coding		NM_032973		70	119	70	119	---	---	---	---
LOC101930107	101930107	broad.mit.edu	37	2	88025476	88025476	+	IGR	DEL	A	A	-			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr2:88025476delA								MIR4435-1 (96123 upstream) : PLGLB2 (22129 downstream)																							TCCTCGGAACACAACAGTAGA	0.453																																						uc002srs.3																			0				ovary(1)|skin(1)	2						c.(301-303)ACAfs		SubName: Full=cDNA FLJ10361 fis, clone NT2RM2001256, highly similar to Anaphase-promoting complex subunit 1;																																				SO:0001628	intergenic_variant	64795							g.chr2:88025476delA																													2.37:g.88025476delA							p.T101fs			Q9H871	RMD5A_HUMAN			6	1196	+			Error:Variant_position_missing_in_Q9H871_after_alignment						Frame_Shift_Del	DEL		37	c.301delA																																																																																				0		0.453									12	6	12	6	---	---	---	---
PGM2	55276	broad.mit.edu	37	4	37851992	37851992	+	Frame_Shift_Del	DEL	G	G	-			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr4:37851992delG	ENST00000381967.4	+	12	1700	c.1600delG	c.(1600-1602)gctfs	p.A534fs	PGM2_ENST00000537241.1_Frame_Shift_Del_p.A374fs	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	534					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TGATAAAAAAGCTGTAAGTAA	0.294																																						uc011byb.1																			0				ovary(1)	1						c.(1600-1602)GCTfs		phosphoglucomutase 2							43.0	45.0	44.0					4																	37851992		2203	4298	6501	SO:0001589	frameshift_variant	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37851992delG	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1600delG	4.37:g.37851992delG	ENSP00000371393:p.Ala534fs					PGM2_uc011byc.1_Frame_Shift_Del_p.A374fs	p.A534fs	NM_018290	NP_060760	Q96G03	PGM2_HUMAN			12	1673	+			534					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Frame_Shift_Del	DEL	ENST00000381967.4	37	c.1600delG	CCDS3443.1																																																																																					0.294	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		14	8	14	8	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55974019	55974019	+	Frame_Shift_Del	DEL	C	C	-			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr4:55974019delC	ENST00000263923.4	-	10	1592	c.1297delG	c.(1297-1299)gatfs	p.D433fs		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	433	Ig-like C2-type 5.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|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 focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGTAGGAATCCACAGGAGAG	0.473			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		0				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(1297-1299)GATfs		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						198.0	171.0	180.0					4																	55974019		2203	4300	6503	SO:0001589	frameshift_variant	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55974019delC	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1297delG	4.37:g.55974019delC	ENSP00000263923:p.Asp433fs	TSP Lung(20;0.16)				KDR_uc003hat.1_Frame_Shift_Del_p.D433fs|KDR_uc011bzx.1_Frame_Shift_Del_p.D433fs	p.D433fs	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		10	1599	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		433			Ig-like C2-type 5.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Frame_Shift_Del	DEL	ENST00000263923.4	37	c.1297delG	CCDS3497.1																																																																																					0.473	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			56	51	56	51	---	---	---	---
C4orf29	80167	broad.mit.edu	37	4	128938586	128938587	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr4:128938586_128938587delCT	ENST00000444616.1	+	8	786_787	c.539_540delCT	c.(538-540)gctfs	p.A180fs	C4orf29_ENST00000388795.5_Frame_Shift_Del_p.A98fs|C4orf29_ENST00000398965.1_Frame_Shift_Del_p.A180fs			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	180						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GAATCTGCAGCTCTCTTGCACT	0.411																																						uc003ifr.2																			0				ovary(1)	1						c.(538-540)GCTfs		hypothetical protein LOC80167 precursor																																				SO:0001589	frameshift_variant	80167					extracellular region		g.chr4:128938586_128938587delCT	AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.539_540delCT	4.37:g.128938590_128938591delCT	ENSP00000397229:p.Ala180fs					C4orf29_uc003ifs.2_Frame_Shift_Del_p.A74fs|C4orf29_uc003ift.2_Frame_Shift_Del_p.A11fs|C4orf29_uc003ifu.2_Frame_Shift_Del_p.A11fs|C4orf29_uc010inz.2_Intron|C4orf29_uc003ifv.2_Frame_Shift_Del_p.A11fs	p.A180fs	NM_001039717	NP_001034806	Q0P651	CD029_HUMAN			9	857_858	+			180					A1A4W8|A1A4W9|Q9H7A7	Frame_Shift_Del	DEL	ENST00000444616.1	37	c.539_540delCT																																																																																						0.411	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257098.1	NM_001039717		13	27	13	27	---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140176148	140176148	+	Frame_Shift_Del	DEL	C	C	-	rs201395161	byFrequency	TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr5:140176148delC	ENST00000526136.1	+	1	1599	c.1599delC	c.(1597-1599)ttcfs	p.F533fs	PCDHA2_ENST00000378132.1_Frame_Shift_Del_p.F533fs|PCDHA2_ENST00000520672.2_Frame_Shift_Del_p.F533fs|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	533	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGCAGTTCCAGGTGAGCG	0.677																																						uc003lhd.2																			0				ovary(4)	4						c.(1597-1599)TTCfs		protocadherin alpha 2 isoform 1 precursor							58.0	62.0	60.0					5																	140176148		2203	4297	6500	SO:0001589	frameshift_variant	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140176148delC	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1599delC	5.37:g.140176148delC	ENSP00000431748:p.Phe533fs					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Frame_Shift_Del_p.F533fs|PCDHA2_uc011czy.1_Frame_Shift_Del_p.F533fs	p.F533fs	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1705	+			533			Cadherin 5.|Extracellular (Potential).		O75287|Q9BTV3	Frame_Shift_Del	DEL	ENST00000526136.1	37	c.1599delC	CCDS54914.1																																																																																					0.677	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		54	40	54	40	---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130912803	130912805	+	In_Frame_Del	DEL	TCG	TCG	-	rs200738479		TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr12:130912803_130912805delTCG	ENST00000261655.4	-	12	2443_2445	c.2280_2282delCGA	c.(2278-2283)gacgag>gag	p.D760del		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	760					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CAGCTCCTCCTCGTCCTCCTCCA	0.616																																						uc001uil.2																			0				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(2278-2283)GACGAG>GAG		RIM-binding protein 2																																				SO:0001651	inframe_deletion	23504					cell junction|synapse		g.chr12:130912803_130912805delTCG	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2280_2282delCGA	12.37:g.130912803_130912805delTCG	ENSP00000261655:p.Asp760del						p.D760del	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	12	2444_2446	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	760					Q96ID2	In_Frame_Del	DEL	ENST00000261655.4	37	c.2280_2282delCGA	CCDS31925.1																																																																																					0.616	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		50	22	50	22	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11520921	11520922	+	Frame_Shift_Ins	INS	-	-	A			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr17:11520921_11520922insA	ENST00000262442.4	+	5	1166_1167	c.1098_1099insA	c.(1099-1101)aacfs	p.N367fs	DNAH9_ENST00000454412.2_Frame_Shift_Ins_p.N367fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	367	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGAGATTTGCAACCTTCTCAT	0.609																																						uc002gne.2																			0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(1096-1101)TGCAACfs		dynein, axonemal, heavy chain 9 isoform 2																																				SO:0001589	frameshift_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11520921_11520922insA	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1100dupA	17.37:g.11520923_11520923dupA	ENSP00000262442:p.Asn367fs						p.C366fs	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	5	1166_1167	+		Breast(5;0.0122)|all_epithelial(5;0.131)	366_367			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Frame_Shift_Ins	INS	ENST00000262442.4	37	c.1098_1099insA	CCDS11160.1																																																																																					0.609	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		40	18	40	18	---	---	---	---
PSG9	5678	broad.mit.edu	37	19	43763205	43763206	+	Frame_Shift_Ins	INS	-	-	C			TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr19:43763205_43763206insC	ENST00000270077.3	-	4	887_888	c.791_792insG	c.(790-792)cctfs	p.P264fs	PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000443718.3_Frame_Shift_Ins_p.P171fs|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000418820.2_Frame_Shift_Ins_p.P171fs	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	264	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TCTCACTCTTAGGTTCACAGGT	0.495																																						uc002owd.3																			0				ovary(1)|skin(1)	2						c.(790-792)CCTfs		pregnancy specific beta-1-glycoprotein 9																																				SO:0001589	frameshift_variant	5678				female pregnancy	extracellular region		g.chr19:43763205_43763206insC	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.791_792insG	19.37:g.43763205_43763206insC	ENSP00000270077:p.Pro264fs					PSG9_uc002owe.3_Intron|PSG9_uc010xwm.1_Frame_Shift_Ins_p.P171fs|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Intron|PSG9_uc002owh.2_Intron	p.P264fs	NM_002784	NP_002775	Q00887	PSG9_HUMAN			4	890_891	-		Prostate(69;0.00682)	264			Ig-like C2-type 2.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Frame_Shift_Ins	INS	ENST00000270077.3	37	c.791_792insG	CCDS12618.1																																																																																					0.495	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		170	140	170	140	---	---	---	---
FAM83D	81610	broad.mit.edu	37	20	37555322	37555323	+	In_Frame_Ins	INS	-	-	GCG	rs570408132|rs534813259	byFrequency	TCGA-85-6560-01A-11D-1817-08	TCGA-85-6560-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5a156b8-2c8a-4ed0-8bae-b60cdc95698f	c8421b8a-09f9-4107-a899-d3bd3ca78b71	g.chr20:37555322_37555323insGCG	ENST00000217429.4	+	1	368_369	c.327_328insGCG	c.(328-330)gcg>GCGgcg	p.110_110A>AA		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	80					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GAGAGGAGGGCgcggcggcggc	0.718																																						uc002xjg.2																			0				ovary(3)	3						c.(325-330)insGCG		hypothetical protein LOC81610																																				SO:0001652	inframe_insertion	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37555322_37555323insGCG	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.343_345dupGCG	20.37:g.37555329_37555331dupGCG	ENSP00000217429:p.Ala116dup					FAM83D_uc002xjf.2_In_Frame_Ins_p.116_117insA	p.116_117insA	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN			1	368_369	+		Myeloproliferative disorder(115;0.00878)	86_87					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	In_Frame_Ins	INS	ENST00000217429.4	37	c.327_328insGCG	CCDS42872.1																																																																																					0.718	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			3	3	3	3	---	---	---	---
