#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_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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MYOM3	127294	broad.mit.edu	37	1	24419567	24419567	+	Silent	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:24419567C>T	ENST00000374434.3	-	10	1122	c.960G>A	c.(958-960)aaG>aaA	p.K320K	MYOM3_ENST00000330966.7_Silent_p.K321K|MYOM3_ENST00000329601.7_Silent_p.K320K|MYOM3_ENST00000475306.1_5'UTR	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	320	Ig-like C2-type 2.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGTAGAGGATCTTCCGACGTC	0.627																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(961-963)aaG>aaA		myomesin 3							53.0	59.0	57.0					1																	24419567		1949	4127	6076	SO:0001819	synonymous_variant	127294							g.chr1:24419567C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.960G>A	1.37:g.24419567C>T						MYOM3_ENST00000374434.3_Silent_p.K320K|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Silent_p.K320K	p.K321K			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	10	1125	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	320			Ig-like C2-type 2.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	c.963G>A	CCDS41281.1																																																																																				0.627	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		7	38	0	0	0	1	0	7	38				
SHC1	6464	broad.mit.edu	37	1	154942720	154942720	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:154942720C>T	ENST00000368445.5	-	1	497	c.283G>A	c.(283-285)Gta>Ata	p.V95I	SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000448116.2_Missense_Mutation_p.V95I	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	95				V -> D (in Ref. 2; AAB49972). {ECO:0000305}.	actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTGCCCCTACGATCCCCTCC	0.687																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(283-285)Gta>Ata		SHC (Src homology 2 domain containing) transforming protein 1							27.0	33.0	31.0					1																	154942720		2203	4299	6502	SO:0001583	missense	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154942720C>T	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.283G>A	1.37:g.154942720C>T	ENSP00000357430:p.Val95Ile					SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000368445.5_Missense_Mutation_p.V95I	p.V95I	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	503	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		95	V -> D (in Ref. 2; AAB49972).				B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.283G>A	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625547	0.28889	.	.	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368443	T;T	0.63417	-0.04;-0.04	4.06	-3.1	0.05315	.	2.000660	0.02576	N	0.098336	T	0.12603	0.0306	N	0.03608	-0.345	0.09310	N	1	B;B	0.26318	0.011;0.146	B;B	0.14578	0.001;0.011	T	0.03335	-1.1047	10	0.30854	T	0.27	.	3.8341	0.08886	0.262:0.337:0.0:0.4011	.	95;95	P29353-6;P29353	.;SHC1_HUMAN	I	95;95;31	ENSP00000357430:V95I;ENSP00000401303:V95I	ENSP00000357428:V31I	V	-	1	0	SHC1	153209344	0.000000	0.05858	0.001000	0.08648	0.981000	0.71138	-0.336000	0.07863	-0.785000	0.04522	0.555000	0.69702	GTA		0.687	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		9	106	0	0	0	1	0	9	106				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	122	0	0	0	1	0	5	122				
ATHL1	80162	broad.mit.edu	37	11	293076	293076	+	Intron	SNP	C	C	T	rs542587412		TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr11:293076C>T	ENST00000409548.2	+	7	1385				ATHL1_ENST00000409655.1_Intron|ATHL1_ENST00000409479.1_Missense_Mutation_p.T422M	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)						carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGACACCTCACGTGTGCCAGC	0.612																																						ENST00000409479.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17						c.(1264-1266)aCg>aTg		ATH1, acid trehalase-like 1 (yeast)																																				SO:0001627	intron_variant	80162				carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds	g.chr11:293076C>T	AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.1270+79C>T	11.37:g.293076C>T						ATHL1_ENST00000409655.1_Intron|ATHL1_ENST00000409548.2_Intron	p.T422M			Q32M88	ATHL1_HUMAN		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	7	1523	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	419					Q658X8|Q8TEG9|Q9H635	Missense_Mutation	SNP	ENST00000409548.2	37	c.1265C>T	CCDS31322.2	.	.	.	.	.	.	.	.	.	.	C	8.546	0.874314	0.17395	.	.	ENSG00000142102	ENST00000409479	.	.	.	1.7	-2.15	0.07102	.	.	.	.	.	T	0.22742	0.0549	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.22173	-1.0224	7	0.21540	T	0.41	.	7.5855	0.27991	0.0:0.7798:0.0:0.2202	.	422	E7EMA9	.	M	422	.	ENSP00000387099:T422M	T	+	2	0	ATHL1	283076	0.000000	0.05858	0.001000	0.08648	0.139000	0.21198	-1.374000	0.02566	-0.666000	0.05310	0.478000	0.44815	ACG		0.612	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330164.3	NM_025092		13	114	0	0	0	1	0	13	114				
WHSC1L1	54904	broad.mit.edu	37	8	38157097	38157097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr8:38157097G>A	ENST00000317025.8	-	15	3140	c.2623C>T	c.(2623-2625)Cag>Tag	p.Q875*	WHSC1L1_ENST00000433384.2_Intron|WHSC1L1_ENST00000527502.1_Nonsense_Mutation_p.Q875*	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	875					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)			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)			GAATGGTCCTGAACTATCAGC	0.393			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2623-2625)Cag>Tag		Wolf-Hirschhorn syndrome candidate 1-like 1							93.0	86.0	88.0					8																	38157097		1907	4118	6025	SO:0001587	stop_gained	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38157097G>A	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.2623C>T	8.37:g.38157097G>A	ENSP00000313983:p.Gln875*					WHSC1L1_ENST00000527502.1_Nonsense_Mutation_p.Q875*|WHSC1L1_ENST00000433384.2_Intron	p.Q875*	NM_023034.1	NP_075447.1	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	3140	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	875					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Nonsense_Mutation	SNP	ENST00000317025.8	37	c.2623C>T	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	G	46	12.195036	0.99645	.	.	ENSG00000147548	ENST00000317025;ENST00000446459;ENST00000527502	.	.	.	5.83	5.83	0.93111	.	0.000000	0.46145	U	0.000313	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	20.111	0.97911	0.0:0.0:1.0:0.0	.	.	.	.	X	875;812;875	.	ENSP00000313983:Q875X	Q	-	1	0	WHSC1L1	38276254	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.747000	0.94245	0.650000	0.86243	CAG		0.393	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		10	47	0	0	0	1	0	10	47				
IL1RAPL2	26280	broad.mit.edu	37	X	104728369	104728369	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chrX:104728369T>A	ENST00000372582.1	+	6	1518	c.762T>A	c.(760-762)gaT>gaA	p.D254E	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D254E	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	254	Ig-like C2-type 3.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTGTTATAGATGTCCAGCTGG	0.423																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(760-762)gaT>gaA		interleukin 1 receptor accessory protein-like 2							106.0	93.0	98.0					X																	104728369		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104728369T>A	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.762T>A	X.37:g.104728369T>A	ENSP00000361663:p.Asp254Glu					IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D254E	p.D254E	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			6	1518	+			254			Ig-like C2-type 3.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.762T>A	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	T	3.349	-0.132896	0.06711	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.75938	-0.98;-0.98	5.88	4.69	0.59074	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.186757	0.38164	N	0.001796	T	0.54382	0.1855	N	0.17474	0.49	0.80722	D	1	B	0.23591	0.088	B	0.27500	0.08	T	0.46707	-0.9172	10	0.02654	T	1	.	10.6795	0.45807	0.1452:0.0:0.0:0.8548	.	254	Q9NP60	IRPL2_HUMAN	E	254	ENSP00000361663:D254E;ENSP00000344976:D254E	ENSP00000344976:D254E	D	+	3	2	IL1RAPL2	104615025	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.206000	0.58473	0.803000	0.34113	0.486000	0.48141	GAT		0.423	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		16	51	0	0	0	1	0	16	51				
GRIN2A	2903	broad.mit.edu	37	16	10273944	10273944	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr16:10273944C>T	ENST00000396573.2	-	3	634	c.325G>A	c.(325-327)Gta>Ata	p.V109I	GRIN2A_ENST00000562109.1_Missense_Mutation_p.V109I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V109I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V109I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V109I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	109					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATCTGGGCTACGGCCTCCTGG	0.612																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(325-327)Gta>Ata		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						85.0	81.0	82.0					16																	10273944		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10273944C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.325G>A	16.37:g.10273944C>T	ENSP00000379818:p.Val109Ile					GRIN2A_ENST00000404927.2_Missense_Mutation_p.V109I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V109I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V109I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V109I	p.V109I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			3	634	-			109					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.325G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	7.439	0.640383	0.14386	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000330684;ENST00000396575	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	4.54	3.46	0.39613	Extracellular ligand-binding receptor (1);	0.152333	0.38897	N	0.001532	T	0.67906	0.2943	N	0.04116	-0.275	0.80722	D	1	B;B;B	0.17268	0.021;0.002;0.001	B;B;B	0.17433	0.018;0.004;0.002	T	0.61352	-0.7080	9	.	.	.	.	6.8525	0.24022	0.0:0.747:0.0:0.253	.	109;109;109	Q547U9;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	I	109	ENSP00000379818:V109I;ENSP00000385872:V109I;ENSP00000332549:V109I;ENSP00000379820:V109I	.	V	-	1	0	GRIN2A	10181445	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.091000	0.57700	2.088000	0.63022	0.561000	0.74099	GTA		0.612	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			11	108	0	0	0	1	0	11	108				
CELSR2	1952	broad.mit.edu	37	1	109812119	109812119	+	Missense_Mutation	SNP	C	C	T	rs377326489		TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:109812119C>T	ENST00000271332.3	+	21	6947	c.6886C>T	c.(6886-6888)Cgg>Tgg	p.R2296W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2296					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)			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)		GCTTCTGCCCCGGGCCCTGGA	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18589	0.0		0.0	False		,,,				2504	0.0				NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				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						c.(6886-6888)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 2		C	TRP/ARG	0,4406		0,0,2203	69.0	63.0	65.0		6886	4.4	0.9	1		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR2	NM_001408.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2296/2924	109812119	1,13005	2203	4300	6503	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.chr1:109812119C>T	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.6886C>T	1.37:g.109812119C>T	ENSP00000271332:p.Arg2296Trp						p.R2296W	NM_001408.2	NP_001399.1	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)	21	6947	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2296					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.6886C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529714	0.64860	0.0	1.16E-4	ENSG00000143126	ENST00000271332	T	0.68903	-0.36	4.41	4.41	0.53225	.	.	.	.	.	T	0.61837	0.2379	L	0.42245	1.32	0.35781	D	0.821628	D	0.71674	0.998	P	0.59546	0.859	T	0.67589	-0.5632	9	0.66056	D	0.02	.	9.1181	0.36771	0.1622:0.6802:0.1576:0.0	.	2296	Q9HCU4	CELR2_HUMAN	W	2296	ENSP00000271332:R2296W	ENSP00000271332:R2296W	R	+	1	2	CELSR2	109613642	0.016000	0.18221	0.950000	0.38849	0.956000	0.61745	2.114000	0.41911	2.302000	0.77476	0.462000	0.41574	CGG		0.592	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		4	91	0	0	0	1	0	4	91				
SMCHD1	23347	broad.mit.edu	37	18	2760731	2760731	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr18:2760731T>G	ENST00000320876.6	+	35	4766	c.4428T>G	c.(4426-4428)agT>agG	p.S1476R	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1476R	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1476					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTCTCAACAGTGAACAGGTTT	0.294																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(4426-4428)agT>agG		structural maintenance of chromosomes flexible hinge domain containing 1							72.0	71.0	71.0					18																	2760731		1814	4067	5881	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2760731T>G	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4428T>G	18.37:g.2760731T>G	ENSP00000326603:p.Ser1476Arg					SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1476R|RP11-703M24.5_ENST00000583546.1_RNA	p.S1476R	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			35	4766	+			1476					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.4428T>G	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.573151	0.65765	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.27402	1.67;1.68	5.11	2.59	0.31030	.	0.082507	0.85682	D	0.000000	T	0.49372	0.1553	M	0.72894	2.215	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.44283	-0.9338	10	0.87932	D	0	-18.102	8.4493	0.32860	0.0:0.2153:0.0:0.7847	.	1476	A6NHR9	SMHD1_HUMAN	R	1476	ENSP00000326603:S1476R;ENSP00000261598:S1476R	ENSP00000261598:S1476R	S	+	3	2	SMCHD1	2750731	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.008000	0.29872	0.330000	0.23485	0.533000	0.62120	AGT		0.294	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			3	46	0	0	0	1	0	3	46				
IRX1	79192	broad.mit.edu	37	5	3600022	3600022	+	Silent	SNP	G	G	C	rs200644003	byFrequency	TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr5:3600022G>C	ENST00000302006.3	+	2	1012	c.960G>C	c.(958-960)gcG>gcC	p.A320A	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	320					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGTCGCTGGCGGAGACAGCCA	0.786																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(958-960)gcG>gcC		iroquois homeobox 1							2.0	2.0	2.0					5																	3600022		1581	3237	4818	SO:0001819	synonymous_variant	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3600022G>C	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.960G>C	5.37:g.3600022G>C						CTD-2012M11.3_ENST00000559410.1_RNA	p.A320A	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			2	1012	+			320					Q7Z2F8|Q8N312	Silent	SNP	ENST00000302006.3	37	c.960G>C	CCDS34132.1																																																																																				0.786	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		2	7	0	0	0	1	0	2	7				
ZHX3	23051	broad.mit.edu	37	20	39832183	39832183	+	Silent	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr20:39832183G>A	ENST00000309060.3	-	4	1789	c.1374C>T	c.(1372-1374)ccC>ccT	p.P458P	ZHX3_ENST00000540170.1_Silent_p.P458P|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Silent_p.P458P|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Silent_p.P458P|ZHX3_ENST00000544979.2_Silent_p.P458P|ZHX3_ENST00000560361.1_Silent_p.P458P			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	458	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CAGTGTTAATGGGTGCCACAC	0.572																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1372-1374)ccC>ccT		zinc fingers and homeoboxes 3							62.0	50.0	54.0					20																	39832183		2203	4300	6503	SO:0001819	synonymous_variant	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39832183G>A	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1374C>T	20.37:g.39832183G>A						ZHX3_ENST00000559234.1_Silent_p.P458P|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Silent_p.P458P|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Silent_p.P458P|ZHX3_ENST00000432768.2_Silent_p.P458P|ZHX3_ENST00000560361.1_Silent_p.P458P	p.P458P			Q9H4I2	ZHX3_HUMAN			4	1789	-		Myeloproliferative disorder(115;0.00425)	458			Required for homodimerization and interaction with NFYA.|Required for repressor activity.		E1P5W5|F5H820|O43145|Q6NUJ7	Silent	SNP	ENST00000309060.3	37	c.1374C>T	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	G	5.698	0.313244	0.10789	.	.	ENSG00000174306	ENST00000421422	.	.	.	6.07	-2.55	0.06288	.	.	.	.	.	T	0.38799	0.1054	.	.	.	0.50632	D	0.999884	.	.	.	.	.	.	T	0.35425	-0.9789	4	.	.	.	-21.0808	1.4327	0.02337	0.4268:0.1899:0.2219:0.1614	.	.	.	.	Y	167	.	.	H	-	1	0	ZHX3	39265597	0.630000	0.27155	0.990000	0.47175	0.980000	0.70556	-0.083000	0.11286	-0.035000	0.13691	-0.136000	0.14681	CAT		0.572	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		10	57	0	0	0	1	0	10	57				
PROS1	5627	broad.mit.edu	37	3	93646107	93646107	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr3:93646107T>A	ENST00000394236.3	-	2	537	c.221A>T	c.(220-222)aAt>aTt	p.N74I	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	74	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TTCCGGGTCATTTTCAAAGAC	0.403																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(220-222)aAt>aTt		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						110.0	107.0	108.0					3																	93646107		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93646107T>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.221A>T	3.37:g.93646107T>A	ENSP00000377783:p.Asn74Ile					PROS1_ENST00000407433.1_5'UTR	p.N74I	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			2	537	-			74			Gla.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.221A>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108905	0.77096	.	.	ENSG00000184500	ENST00000394236;ENST00000348974	D;D	0.99252	-5.63;-5.63	4.53	4.53	0.55603	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.173980	0.49916	D	0.000130	D	0.99542	0.9836	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98008	1.0364	10	0.87932	D	0	.	13.9809	0.64304	0.0:0.0:0.0:1.0	.	74	P07225	PROS_HUMAN	I	74;106	ENSP00000377783:N74I;ENSP00000330021:N106I	ENSP00000330021:N106I	N	-	2	0	PROS1	95128797	1.000000	0.71417	0.884000	0.34674	0.925000	0.55904	7.200000	0.77838	2.032000	0.59987	0.368000	0.22195	AAT		0.403	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		13	115	0	0	0	1	0	13	115				
RYR1	6261	broad.mit.edu	37	19	38934381	38934381	+	Silent	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr19:38934381C>T	ENST00000359596.3	+	5	369	c.369C>T	c.(367-369)tcC>tcT	p.S123S	RYR1_ENST00000360985.3_Silent_p.S123S|RYR1_ENST00000355481.4_Silent_p.S123S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	123	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCACCACCTCCCGCTCCATGA	0.647																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(367-369)tcC>tcT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						92.0	75.0	80.0					19																	38934381		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38934381C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.369C>T	19.37:g.38934381C>T						RYR1_ENST00000359596.3_Silent_p.S123S|RYR1_ENST00000360985.3_Silent_p.S123S	p.S123S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		5	500	+	all_cancers(60;7.91e-06)		123			MIR 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.369C>T	CCDS33011.1																																																																																				0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			9	93	0	0	0	1	0	9	93				
MKL2	57496	broad.mit.edu	37	16	14304154	14304154	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr16:14304154G>A	ENST00000341243.5	+	2	176	c.176G>A	c.(175-177)gGc>gAc	p.G59D	MKL2_ENST00000571589.1_Missense_Mutation_p.G70D|MKL2_ENST00000318282.5_Missense_Mutation_p.G70D|MKL2_ENST00000572567.1_Missense_Mutation_p.G59D|MKL2_ENST00000574045.1_Missense_Mutation_p.G70D|MKL2_ENST00000573051.1_Missense_Mutation_p.G19D			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	59					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGGACCAGGGCATCATGCCA	0.493																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(208-210)gGc>gAc		MKL/myocardin-like 2							187.0	140.0	156.0					16																	14304154		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14304154G>A	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.176G>A	16.37:g.14304154G>A	ENSP00000345841:p.Gly59Asp					MKL2_ENST00000318282.5_Missense_Mutation_p.G70D|MKL2_ENST00000574045.1_Missense_Mutation_p.G70D|MKL2_ENST00000572567.1_Missense_Mutation_p.G59D|MKL2_ENST00000573051.1_Missense_Mutation_p.G19D|MKL2_ENST00000341243.5_Missense_Mutation_p.G59D	p.G70D	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			4	381	+			59					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.209G>A		.	.	.	.	.	.	.	.	.	.	g	35	5.436380	0.96168	.	.	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	D;D	0.99855	-7.2;-7.2	5.68	5.68	0.88126	.	0.048575	0.85682	D	0.000000	D	0.99871	0.9939	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96908	0.9665	10	0.72032	D	0.01	-29.7831	19.1345	0.93420	0.0:0.0:1.0:0.0	.	19;70;59;70	Q9ULH7-2;B4DGT8;Q9ULH7;Q9ULH7-4	.;.;MKL2_HUMAN;.	D	70;59;59	ENSP00000339086:G70D;ENSP00000345841:G59D	ENSP00000339086:G70D	G	+	2	0	MKL2	14211655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.549000	0.98106	2.838000	0.97847	0.655000	0.94253	GGC		0.493	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		9	81	0	0	0	1	0	9	81				
POLR2J4	84820	broad.mit.edu	37	7	44012847	44012847	+	RNA	SNP	G	G	A	rs144729196	byFrequency	TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr7:44012847G>A	ENST00000427076.1	-	0	969				RP5-1165K10.2_ENST00000454572.1_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		AAGCCACAGCGTGGAAGGTGG	0.612													N|||	102	0.0203674	0.003	0.0605	5008	,	,		20486	0.001		0.0507	False		,,,				2504	0.0041					ENST00000427076.1																			0																																																			0							g.chr7:44012847G>A			7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44012847G>A								NR_003655.2						0	969	-									RNA	SNP	ENST00000427076.1	37																																																																																						0.612	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473169.1	NR_003655		3	24	0	0	0	1	0	3	24				
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	lincRNA	SNP	G	G	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr15:45848224G>T	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							TGCAGATTTTGTTTAGCTTTT	0.318																																						ENST00000409454.1																			0																																																			0							g.chr15:45848224G>T																													15.37:g.45848224G>T														0	1219	+									RNA	SNP	ENST00000557965.1	37																																																																																						0.318	RP11-96O20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416553.1			6	21	1	0	5.18039e-06	1	5.43941e-06	6	21				
GMCL1	64395	broad.mit.edu	37	2	70068104	70068104	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr2:70068104G>A	ENST00000282570.3	+	4	763	c.512G>A	c.(511-513)cGa>cAa	p.R171Q		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	171	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TCACTGTATCGAGATGATGTC	0.388																																						ENST00000282570.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						c.(511-513)cGa>cAa		germ cell-less, spermatogenesis associated 1							148.0	123.0	131.0					2																	70068104		2203	4300	6503	SO:0001583	missense	64395				cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix		g.chr2:70068104G>A	AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"""BTB/POZ domain containing"""	23843	protein-coding gene	gene with protein product	"""spermatogenesis associated 29"""		"""germ cell-less homolog 1 (Drosophila)"""				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.512G>A	2.37:g.70068104G>A	ENSP00000282570:p.Arg171Gln						p.R171Q	NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN			4	763	+			171			BTB.		Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	ENST00000282570.3	37	c.512G>A	CCDS1895.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785481	0.90282	.	.	ENSG00000087338	ENST00000282570	T	0.70631	-0.5	4.04	4.04	0.47022	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.66197	0.2765	N	0.08118	0	0.53688	D	0.999979	D	0.76494	0.999	D	0.69142	0.962	T	0.64542	-0.6383	10	0.21014	T	0.42	-6.8167	14.0842	0.64944	0.0:0.0:1.0:0.0	.	171	Q96IK5	GMCL1_HUMAN	Q	171	ENSP00000282570:R171Q	ENSP00000282570:R171Q	R	+	2	0	GMCL1	69921608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.658000	0.91110	2.243000	0.73865	0.555000	0.69702	CGA		0.388	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439		4	48	0	0	0	1	0	4	48				
SPATA31A6	389730	broad.mit.edu	37	9	43625382	43625382	+	Missense_Mutation	SNP	G	G	A	rs143826416	byFrequency	TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr9:43625382G>A	ENST00000332857.6	-	4	3333	c.3305C>T	c.(3304-3306)cCt>cTt	p.P1102L	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1102					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTGTGAATAGGGGGAAACAT	0.483													G|||	2248	0.448882	0.3132	0.4625	5008	,	,		13804	0.6458		0.5	False		,,,				2504	0.3671					ENST00000332857.6																			0											c.(3304-3306)cCt>cTt		SPATA31 subfamily A, member 6							1.0	2.0	2.0					9																	43625382		372	1032	1404	SO:0001583	missense	389730							g.chr9:43625382G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3305C>T	9.37:g.43625382G>A	ENSP00000329825:p.Pro1102Leu						p.P1102L	NM_001145196.1	NP_001138668.1					4	3333	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.3305C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762340	0.31228	.	.	ENSG00000185775	ENST00000332857	T	0.04970	3.52	2.44	0.396	0.16309	.	1.512980	0.04100	N	0.312673	T	0.12860	0.0312	M	0.71206	2.165	0.80722	P	0.0	B	0.33044	0.395	B	0.42495	0.389	T	0.36648	-0.9739	9	0.56958	D	0.05	.	2.8448	0.05540	0.1624:0.0:0.5643:0.2733	.	1102	Q5VVP1	F75A6_HUMAN	L	1102	ENSP00000329825:P1102L	ENSP00000329825:P1102L	P	-	2	0	FAM75A6	43565378	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.063000	0.14410	0.111000	0.17947	0.383000	0.25322	CCT		0.483	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		6	135	0	0	0	1	0	6	135				
MAGEA12	4111	broad.mit.edu	37	X	151896589	151896589	+	IGR	SNP	C	C	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chrX:151896589C>A	ENST00000357916.4	-	0	1664				CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12									p.L11F(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGTTGGACAATGGGCTGG	0.557																																						ENST00000361201.4																			1	Substitution - Missense(1)	p.L11F(1)	kidney(1)	endometrium(2)|kidney(2)|lung(1)	5																																												SO:0001628	intergenic_variant	0							g.chrX:151896589C>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650		X.37:g.151896589C>A								NR_073432.1						0	351	-								Q9NSD3	RNA	SNP	ENST00000357916.4	37		CCDS14710.1																																																																																				0.557	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		5	127	1	0	1.23904e-05	1	1.26926e-05	5	127				
LRRC37A11P	342666	broad.mit.edu	37	17	37188037	37188037	+	RNA	SNP	A	A	G	rs34112047	byFrequency	TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr17:37188037A>G	ENST00000425901.2	+	0	1879					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		GCCAGGATCAAGCTCAGCATC	0.512													A|||	1328	0.265176	0.0658	0.4438	5008	,	,		23535	0.3333		0.2883	False		,,,				2504	0.3139					ENST00000425901.2																			0																																																			0							g.chr17:37188037A>G			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37188037A>G								NR_033753.2						0	1879	+									RNA	SNP	ENST00000425901.2	37																																																																																						0.512	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		3	54	0	0	0	1	0	3	54				
SMARCC2	6601	broad.mit.edu	37	12	56558126	56558126	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr12:56558126C>G	ENST00000267064.4	-	27	3615	c.3529G>C	c.(3529-3531)Gtt>Ctt	p.V1177L	SMARCC2_ENST00000394023.3_Missense_Mutation_p.V1115L|SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1208L|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1177	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTGCCCTGAACAGCTGCCACA	0.662																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3343-3345)Gtt>Ctt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							34.0	37.0	36.0					12																	56558126		2196	4286	6482	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558126C>G	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3529G>C	12.37:g.56558126C>G	ENSP00000267064:p.Val1177Leu					SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1208L|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000267064.4_Missense_Mutation_p.V1177L	p.V1115L	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		29	3448	-			1079			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.3343G>C	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824777	0.50739	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000267064	T;T;T	0.44083	1.16;0.93;0.95	5.28	5.28	0.74379	.	0.000000	0.42548	D	0.000686	T	0.22589	0.0545	N	0.08118	0	0.27682	N	0.946426	B;B;B	0.16396	0.017;0.01;0.01	B;B;B	0.08055	0.003;0.001;0.002	T	0.09422	-1.0675	10	0.87932	D	0	-10.1663	8.4904	0.33098	0.0:0.8328:0.0:0.1672	.	1115;1119;1177	F8VTJ5;Q59G16;Q8TAQ2	.;.;SMRC2_HUMAN	L	1115;1208;1177	ENSP00000377591:V1115L;ENSP00000449396:V1208L;ENSP00000267064:V1177L	ENSP00000267064:V1177L	V	-	1	0	SMARCC2	54844393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.495000	0.35627	2.639000	0.89480	0.563000	0.77884	GTT		0.662	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			7	108	0	0	0	1	0	7	108				
RYBP	23429	broad.mit.edu	37	3	72495650	72495650	+	Silent	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr3:72495650G>A	ENST00000477973.2	-	1	419	c.420C>T	c.(418-420)caC>caT	p.H140H		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		CAAGTACCTGGTGGAGGTGCC	0.438																																						ENST00000477973.1																			0				prostate(1)|upper_aerodigestive_tract(1)	2						c.(418-420)caC>caT		RING1 and YY1 binding protein							71.0	68.0	69.0					3																	72495650		1878	4112	5990	SO:0001819	synonymous_variant	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72495650G>A	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"""YY1 and E4TF1 associated factor 1"", ""ring1 interactor RYBP"", ""apoptin-associating protein 1"", ""death effector domain-associated factor"""	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.420C>T	3.37:g.72495650G>A							p.H140H	NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	1	419	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	0					Q9P2W5|Q9UMW4	Silent	SNP	ENST00000477973.2	37	c.420C>T																																																																																					0.438	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	NM_012234		4	32	0	0	0	1	0	4	32				
SPEN	23013	broad.mit.edu	37	1	16262301	16262301	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:16262301A>G	ENST00000375759.3	+	11	9770	c.9566A>G	c.(9565-9567)tAt>tGt	p.Y3189C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3189					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGCACCCCTATACTGTGCCA	0.607																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(9565-9567)tAt>tGt		spen family transcriptional repressor							72.0	65.0	68.0					1																	16262301		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16262301A>G		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9566A>G	1.37:g.16262301A>G	ENSP00000364912:p.Tyr3189Cys						p.Y3189C	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	9770	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3189					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.9566A>G	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.345465	0.24426	.	.	ENSG00000065526	ENST00000375759	T	0.09538	2.97	5.07	5.07	0.68467	.	.	.	.	.	T	0.27933	0.0688	L	0.60455	1.87	0.42212	D	0.991814	D	0.76494	0.999	D	0.71414	0.973	T	0.01245	-1.1407	9	0.37606	T	0.19	-8.6994	14.8231	0.70087	1.0:0.0:0.0:0.0	.	3189	Q96T58	MINT_HUMAN	C	3189	ENSP00000364912:Y3189C	ENSP00000364912:Y3189C	Y	+	2	0	SPEN	16134888	1.000000	0.71417	0.952000	0.39060	0.342000	0.28953	3.131000	0.50515	1.898000	0.54952	0.482000	0.46254	TAT		0.607	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		11	87	0	0	0	1	0	11	87				
HPS5	11234	broad.mit.edu	37	11	18313152	18313152	+	Silent	SNP	T	T	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr11:18313152T>C	ENST00000349215.3	-	16	2554	c.2277A>G	c.(2275-2277)ggA>ggG	p.G759G	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Silent_p.G645G|HPS5_ENST00000396253.3_Silent_p.G645G	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	759					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGTCCACATGTCCACTGGTGC	0.433									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1933-1935)ggA>ggG		Hermansky-Pudlak syndrome 5							148.0	137.0	141.0					11																	18313152		2199	4293	6492	SO:0001819	synonymous_variant	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18313152T>C	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2277A>G	11.37:g.18313152T>C						HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Silent_p.G759G|HPS5_ENST00000438420.2_Silent_p.G645G	p.G645G	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			15	2397	-			759					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	ENST00000349215.3	37	c.1935A>G	CCDS7836.1																																																																																				0.433	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		11	123	0	0	0	1	0	11	123				
SEMA3D	223117	broad.mit.edu	37	7	84628962	84628962	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr7:84628962G>A	ENST00000284136.6	-	17	2171	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	710					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TATCTCAACCGTGACTCAGCC	0.488																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(2128-2130)Cgg>Tgg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							163.0	135.0	145.0					7																	84628962		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84628962G>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2128C>T	7.37:g.84628962G>A	ENSP00000284136:p.Arg710Trp					SEMA3D_ENST00000484038.1_5'UTR	p.R710W	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			17	2171	-			710					A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.2128C>T	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499483	0.64298	.	.	ENSG00000153993	ENST00000284136	T	0.33654	1.4	5.73	3.85	0.44370	.	0.053759	0.85682	D	0.000000	T	0.34948	0.0915	L	0.56769	1.78	0.80722	D	1	D	0.62365	0.991	B	0.40410	0.328	T	0.43294	-0.9400	10	0.87932	D	0	.	13.9238	0.63950	0.0:0.0:0.6039:0.3961	.	710	O95025	SEM3D_HUMAN	W	710	ENSP00000284136:R710W	ENSP00000284136:R710W	R	-	1	2	SEMA3D	84466898	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.656000	0.54467	1.411000	0.46957	0.655000	0.94253	CGG		0.488	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		6	100	0	0	0	1	0	6	100				
TIGD5	84948	broad.mit.edu	37	8	144681434	144681434	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr8:144681434T>C	ENST00000504548.2	+	1	1361	c.1361T>C	c.(1360-1362)cTc>cCc	p.L454P	TIGD5_ENST00000321385.3_Missense_Mutation_p.L405P|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000526838.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000528610.1_5'Flank|EEF1D_ENST00000442189.2_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	454	DDE 2.					nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGCTTCATGCTCAAGGACATG	0.667																																						ENST00000321385.3																			0				NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7						c.(1213-1215)cTc>cCc		tigger transposable element derived 5							23.0	24.0	23.0					8																	144681434		2189	4290	6479	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144681434T>C	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1361T>C	8.37:g.144681434T>C	ENSP00000421489:p.Leu454Pro					TIGD5_ENST00000504548.2_Missense_Mutation_p.L454P	p.L405P			E7EWS2	E7EWS2_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1361	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		454					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.1214T>C	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	T	16.58	3.163734	0.57476	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.50277	0.75;0.75	4.3	4.3	0.51218	.	0.000000	0.50627	U	0.000114	T	0.60405	0.2266	L	0.48642	1.525	0.50813	D	0.999896	D	0.89917	1.0	D	0.77557	0.99	T	0.63888	-0.6535	10	0.87932	D	0	.	12.6665	0.56846	0.0:0.0:0.0:1.0	.	405	Q53EQ6	TIGD5_HUMAN	P	454;405	ENSP00000421489:L454P;ENSP00000315906:L405P	ENSP00000315906:L405P	L	+	2	0	TIGD5	144752577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.074000	0.57577	1.570000	0.49709	0.533000	0.62120	CTC		0.667	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862		6	25	0	0	0	1	0	6	25				
PTPN9	5780	broad.mit.edu	37	15	75801287	75801287	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr15:75801287G>C	ENST00000306726.2	-	6	1122	c.610C>G	c.(610-612)Ctc>Gtc	p.L204V		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	204	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCAGGAGGAGACTGATGATG	0.473																																						ENST00000306726.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(610-612)Ctc>Gtc		protein tyrosine phosphatase, non-receptor type 9							72.0	69.0	70.0					15																	75801287		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75801287G>C		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.610C>G	15.37:g.75801287G>C	ENSP00000303554:p.Leu204Val						p.L204V	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN			6	1122	-			204			CRAL-TRIO.		Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.610C>G	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808279	0.50421	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	D	0.84370	-1.84	5.48	3.35	0.38373	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.133960	0.51477	N	0.000086	T	0.78323	0.4265	L	0.48877	1.53	0.48901	D	0.999724	P	0.41080	0.737	B	0.36289	0.221	T	0.76310	-0.3006	10	0.31617	T	0.26	.	12.6584	0.56799	0.0:0.1183:0.7447:0.137	.	204	P43378	PTN9_HUMAN	V	204;194	ENSP00000303554:L204V	ENSP00000303554:L204V	L	-	1	0	PTPN9	73588342	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.015000	0.64035	1.275000	0.44379	0.467000	0.42956	CTC		0.473	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			6	42	0	0	0	1	0	6	42				
HHAT	55733	broad.mit.edu	37	1	210577986	210577986	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:210577986A>C	ENST00000367010.1	+	6	874	c.647A>C	c.(646-648)aAt>aCt	p.N216T	HHAT_ENST00000308852.6_Missense_Mutation_p.N171T|HHAT_ENST00000545781.1_Missense_Mutation_p.N153T|HHAT_ENST00000391905.3_Missense_Mutation_p.N216T|HHAT_ENST00000537898.1_Missense_Mutation_p.N151T|HHAT_ENST00000261458.3_Missense_Mutation_p.N216T|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000413764.2_Missense_Mutation_p.N216T|HHAT_ENST00000545154.1_Missense_Mutation_p.N217T	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	216					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCTTACACAATGGGCCCATC	0.532																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(646-648)aAt>aCt		hedgehog acyltransferase							76.0	72.0	74.0					1																	210577986		2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210577986A>C	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.647A>C	1.37:g.210577986A>C	ENSP00000355977:p.Asn216Thr					HHAT_ENST00000261458.3_Missense_Mutation_p.N216T|HHAT_ENST00000413764.2_Missense_Mutation_p.N216T|HHAT_ENST00000545781.1_Missense_Mutation_p.N153T|HHAT_ENST00000391905.3_Missense_Mutation_p.N216T|HHAT_ENST00000545154.1_Missense_Mutation_p.N217T|HHAT_ENST00000308852.6_Missense_Mutation_p.N171T|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000537898.1_Missense_Mutation_p.N151T	p.N216T	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	6	874	+			216					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.647A>C	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.988560	0.53934	.	.	ENSG00000054392	ENST00000413764;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000426968	T;T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.69815	0.3153	M	0.62723	1.935	0.54753	D	0.999986	B;B;P;P	0.36768	0.096;0.078;0.569;0.513	B;B;B;B	0.38880	0.098;0.036;0.284;0.202	T	0.69191	-0.5210	10	0.33141	T	0.24	-25.3402	15.3723	0.74573	1.0:0.0:0.0:0.0	.	171;217;151;216	B7Z2U8;F5H444;B7Z5I1;Q5VTY9	.;.;.;HHAT_HUMAN	T	216;217;151;216;153;216;171;216;88	ENSP00000416845:N216T;ENSP00000438468:N217T;ENSP00000442625:N151T;ENSP00000375773:N216T;ENSP00000439229:N153T;ENSP00000261458:N216T;ENSP00000308628:N171T;ENSP00000355977:N216T;ENSP00000413399:N88T	ENSP00000261458:N216T	N	+	2	0	HHAT	208644609	1.000000	0.71417	0.998000	0.56505	0.737000	0.42083	8.233000	0.89799	2.107000	0.64212	0.482000	0.46254	AAT		0.532	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		11	89	0	0	0	1	0	11	89				
IL12A-AS1	101928376	broad.mit.edu	37	3	159818785	159818785	+	RNA	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr3:159818785G>A	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		CAGCCTCTTCGAAGACAAAAA	0.493																																						ENST00000497452.1																			0																																																			0							g.chr3:159818785G>A	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159818785G>A														0	517	-									RNA	SNP	ENST00000497452.1	37																																																																																						0.493	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			7	222	0	0	0	1	0	7	222				
SPAG9	9043	broad.mit.edu	37	17	49097614	49097614	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr17:49097614C>A	ENST00000262013.7	-	8	1205	c.997G>T	c.(997-999)Gct>Tct	p.A333S	SPAG9_ENST00000510283.1_Missense_Mutation_p.A176S|SPAG9_ENST00000505279.1_Missense_Mutation_p.A319S|SPAG9_ENST00000357122.4_Missense_Mutation_p.A319S	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	333					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TCATTTTCAGCAGAGCCTTAA	0.338																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(997-999)Gct>Tct		sperm associated antigen 9							94.0	85.0	88.0					17																	49097614		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49097614C>A	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.997G>T	17.37:g.49097614C>A	ENSP00000262013:p.Ala333Ser					SPAG9_ENST00000505279.1_Missense_Mutation_p.A319S|SPAG9_ENST00000510283.1_Missense_Mutation_p.A176S|SPAG9_ENST00000357122.4_Missense_Mutation_p.A319S	p.A333S	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		8	1205	-			333					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.997G>T	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748362	0.49257	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000511795	T;T;T;T	0.22134	1.97;1.98;1.98;1.98	5.37	4.19	0.49359	.	0.869884	0.10406	N	0.678492	T	0.10252	0.0251	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.21147	0.052;0.026;0.001;0.001;0.007;0.003	B;B;B;B;B;B	0.28916	0.046;0.096;0.009;0.004;0.018;0.007	T	0.38779	-0.9645	10	0.09338	T	0.73	-0.8009	6.2208	0.20681	0.0:0.7266:0.0:0.2734	.	319;333;319;333;319;176	O60271-5;O60271-3;O60271-2;O60271;O60271-4;E7ENU2	.;.;.;JIP4_HUMAN;.;.	S	333;89;75;75;176;319;319;3	ENSP00000262013:A333S;ENSP00000423165:A176S;ENSP00000426900:A319S;ENSP00000349636:A319S	ENSP00000262013:A333S	A	-	1	0	SPAG9	46452613	0.992000	0.36948	0.953000	0.39169	0.377000	0.30045	1.572000	0.36461	2.517000	0.84864	0.563000	0.77884	GCT		0.338	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		3	28	1	0	0.115264	1	0.115264	3	28				
CHAT	1103	broad.mit.edu	37	10	50835782	50835782	+	Silent	SNP	G	G	A	rs529337162	byFrequency	TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr10:50835782G>A	ENST00000337653.2	+	7	1215	c.1062G>A	c.(1060-1062)acG>acA	p.T354T	CHAT_ENST00000339797.1_Silent_p.T236T|CHAT_ENST00000351556.3_Silent_p.T236T|CHAT_ENST00000395559.2_Silent_p.T236T|CHAT_ENST00000395562.2_Silent_p.T272T|CHAT_ENST00000455728.2_Silent_p.T236T	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	354					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)			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)	GCCTGCTGACGTCTGACGGGA	0.592													G|||	8	0.00159744	0.0	0.0	5008	,	,		21417	0.0		0.0	False		,,,				2504	0.0082					ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(814-816)acG>acA		choline O-acetyltransferase	Choline(DB00122)						99.0	82.0	88.0					10																	50835782		2203	4300	6503	SO:0001819	synonymous_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50835782G>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.1062G>A	10.37:g.50835782G>A						CHAT_ENST00000337653.2_Silent_p.T354T|CHAT_ENST00000395559.2_Silent_p.T236T|CHAT_ENST00000455728.2_Silent_p.T236T|CHAT_ENST00000351556.3_Silent_p.T236T|CHAT_ENST00000339797.1_Silent_p.T236T	p.T272T	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	8	1285	+		all_neural(218;0.107)	354					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	c.816G>A	CCDS7232.1																																																																																				0.592	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		7	71	0	0	0	1	0	7	71				
PDE1C	5137	broad.mit.edu	37	7	31862844	31862844	+	Silent	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr7:31862844C>T	ENST00000396191.1	-	14	1880	c.1425G>A	c.(1423-1425)tcG>tcA	p.S475S	PDE1C_ENST00000479980.1_5'Flank|PDE1C_ENST00000396182.2_Silent_p.S475S|PDE1C_ENST00000396184.3_Silent_p.S475S|PDE1C_ENST00000321453.7_Silent_p.S475S|PDE1C_ENST00000396193.1_Silent_p.S535S	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	475	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TGGCATCTGACGAGCTGATGC	0.438																																						ENST00000396184.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(1423-1425)tcG>tcA		phosphodiesterase 1C, calmodulin-dependent 70kDa							70.0	66.0	67.0					7																	31862844		2203	4300	6503	SO:0001819	synonymous_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31862844C>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1425G>A	7.37:g.31862844C>T						PDE1C_ENST00000321453.7_Silent_p.S475S|PDE1C_ENST00000396182.2_Silent_p.S475S|PDE1C_ENST00000396191.1_Silent_p.S475S|PDE1C_ENST00000396193.1_Silent_p.S535S	p.S475S	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		15	1629	-			475			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396191.1	37	c.1425G>A	CCDS55099.1																																																																																				0.438	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			7	60	0	0	0	1	0	7	60				
IL1RAPL2	26280	broad.mit.edu	37	X	104728369	104728369	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chrX:104728369T>A	ENST00000372582.1	+	6	1518	c.762T>A	c.(760-762)gaT>gaA	p.D254E	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D254E	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	254	Ig-like C2-type 3.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTGTTATAGATGTCCAGCTGG	0.423																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(760-762)gaT>gaA		interleukin 1 receptor accessory protein-like 2							106.0	93.0	98.0					X																	104728369		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104728369T>A	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.762T>A	X.37:g.104728369T>A	ENSP00000361663:p.Asp254Glu					IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D254E	p.D254E	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			6	1518	+			254			Ig-like C2-type 3.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.762T>A	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	T	3.349	-0.132896	0.06711	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.75938	-0.98;-0.98	5.88	4.69	0.59074	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.186757	0.38164	N	0.001796	T	0.54382	0.1855	N	0.17474	0.49	0.80722	D	1	B	0.23591	0.088	B	0.27500	0.08	T	0.46707	-0.9172	10	0.02654	T	1	.	10.6795	0.45807	0.1452:0.0:0.0:0.8548	.	254	Q9NP60	IRPL2_HUMAN	E	254	ENSP00000361663:D254E;ENSP00000344976:D254E	ENSP00000344976:D254E	D	+	3	2	IL1RAPL2	104615025	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.206000	0.58473	0.803000	0.34113	0.486000	0.48141	GAT		0.423	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		16	51	0	0	0	1	0	16	51				
MYOM3	127294	broad.mit.edu	37	1	24419567	24419567	+	Silent	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr1:24419567C>T	ENST00000374434.3	-	10	1122	c.960G>A	c.(958-960)aaG>aaA	p.K320K	MYOM3_ENST00000330966.7_Silent_p.K321K|MYOM3_ENST00000329601.7_Silent_p.K320K|MYOM3_ENST00000475306.1_5'UTR	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	320	Ig-like C2-type 2.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGTAGAGGATCTTCCGACGTC	0.627																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(961-963)aaG>aaA		myomesin 3							53.0	59.0	57.0					1																	24419567		1949	4127	6076	SO:0001819	synonymous_variant	127294							g.chr1:24419567C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.960G>A	1.37:g.24419567C>T						MYOM3_ENST00000329601.7_Silent_p.K320K|MYOM3_ENST00000374434.3_Silent_p.K320K|MYOM3_ENST00000475306.1_5'UTR	p.K321K			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	10	1125	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	320			Ig-like C2-type 2.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	c.963G>A	CCDS41281.1																																																																																				0.627	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		7	38	0	0	0	1	0	7	38				
SHC1	6464	broad.mit.edu	37	1	154942720	154942720	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr1:154942720C>T	ENST00000368445.5	-	1	497	c.283G>A	c.(283-285)Gta>Ata	p.V95I	SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000448116.2_Missense_Mutation_p.V95I	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	95				V -> D (in Ref. 2; AAB49972). {ECO:0000305}.	actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTGCCCCTACGATCCCCTCC	0.687																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(283-285)Gta>Ata		SHC (Src homology 2 domain containing) transforming protein 1							27.0	33.0	31.0					1																	154942720		2203	4299	6502	SO:0001583	missense	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154942720C>T	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.283G>A	1.37:g.154942720C>T	ENSP00000357430:p.Val95Ile					SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000368445.5_Missense_Mutation_p.V95I|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368453.4_Intron	p.V95I	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	503	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		95	V -> D (in Ref. 2; AAB49972).				B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.283G>A	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625547	0.28889	.	.	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368443	T;T	0.63417	-0.04;-0.04	4.06	-3.1	0.05315	.	2.000660	0.02576	N	0.098336	T	0.12603	0.0306	N	0.03608	-0.345	0.09310	N	1	B;B	0.26318	0.011;0.146	B;B	0.14578	0.001;0.011	T	0.03335	-1.1047	10	0.30854	T	0.27	.	3.8341	0.08886	0.262:0.337:0.0:0.4011	.	95;95	P29353-6;P29353	.;SHC1_HUMAN	I	95;95;31	ENSP00000357430:V95I;ENSP00000401303:V95I	ENSP00000357428:V31I	V	-	1	0	SHC1	153209344	0.000000	0.05858	0.001000	0.08648	0.981000	0.71138	-0.336000	0.07863	-0.785000	0.04522	0.555000	0.69702	GTA		0.687	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		9	106	0	0	0	1	0	9	106				
ATHL1	80162	broad.mit.edu	37	11	293076	293076	+	Intron	SNP	C	C	T	rs542587412		TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr11:293076C>T	ENST00000409548.2	+	7	1385				ATHL1_ENST00000409655.1_Intron|ATHL1_ENST00000409479.1_Missense_Mutation_p.T422M	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)						carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGACACCTCACGTGTGCCAGC	0.612																																						ENST00000409479.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17						c.(1264-1266)aCg>aTg		ATH1, acid trehalase-like 1 (yeast)																																				SO:0001627	intron_variant	80162				carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds	g.chr11:293076C>T	AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.1270+79C>T	11.37:g.293076C>T						ATHL1_ENST00000409655.1_Intron|ATHL1_ENST00000409548.2_Intron	p.T422M			Q32M88	ATHL1_HUMAN		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	7	1523	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	419					Q658X8|Q8TEG9|Q9H635	Missense_Mutation	SNP	ENST00000409548.2	37	c.1265C>T	CCDS31322.2	.	.	.	.	.	.	.	.	.	.	C	8.546	0.874314	0.17395	.	.	ENSG00000142102	ENST00000409479	.	.	.	1.7	-2.15	0.07102	.	.	.	.	.	T	0.22742	0.0549	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.22173	-1.0224	7	0.21540	T	0.41	.	7.5855	0.27991	0.0:0.7798:0.0:0.2202	.	422	E7EMA9	.	M	422	.	ENSP00000387099:T422M	T	+	2	0	ATHL1	283076	0.000000	0.05858	0.001000	0.08648	0.139000	0.21198	-1.374000	0.02566	-0.666000	0.05310	0.478000	0.44815	ACG		0.612	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330164.3	NM_025092		13	114	0	0	0	1	0	13	114				
WHSC1L1	54904	broad.mit.edu	37	8	38157097	38157097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr8:38157097G>A	ENST00000317025.8	-	15	3140	c.2623C>T	c.(2623-2625)Cag>Tag	p.Q875*	WHSC1L1_ENST00000433384.2_Intron|WHSC1L1_ENST00000527502.1_Nonsense_Mutation_p.Q875*	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	875					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)			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)			GAATGGTCCTGAACTATCAGC	0.393			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2623-2625)Cag>Tag		Wolf-Hirschhorn syndrome candidate 1-like 1							93.0	86.0	88.0					8																	38157097		1907	4118	6025	SO:0001587	stop_gained	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38157097G>A	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.2623C>T	8.37:g.38157097G>A	ENSP00000313983:p.Gln875*					WHSC1L1_ENST00000433384.2_Intron|WHSC1L1_ENST00000527502.1_Nonsense_Mutation_p.Q875*	p.Q875*	NM_023034.1	NP_075447.1	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	3140	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	875					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Nonsense_Mutation	SNP	ENST00000317025.8	37	c.2623C>T	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	G	46	12.195036	0.99645	.	.	ENSG00000147548	ENST00000317025;ENST00000446459;ENST00000527502	.	.	.	5.83	5.83	0.93111	.	0.000000	0.46145	U	0.000313	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	20.111	0.97911	0.0:0.0:1.0:0.0	.	.	.	.	X	875;812;875	.	ENSP00000313983:Q875X	Q	-	1	0	WHSC1L1	38276254	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.747000	0.94245	0.650000	0.86243	CAG		0.393	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		10	47	0	0	0	1	0	10	47				
GRIN2A	2903	broad.mit.edu	37	16	10273944	10273944	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr16:10273944C>T	ENST00000396573.2	-	3	634	c.325G>A	c.(325-327)Gta>Ata	p.V109I	GRIN2A_ENST00000562109.1_Missense_Mutation_p.V109I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V109I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V109I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V109I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	109					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATCTGGGCTACGGCCTCCTGG	0.612																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(325-327)Gta>Ata		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						85.0	81.0	82.0					16																	10273944		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10273944C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.325G>A	16.37:g.10273944C>T	ENSP00000379818:p.Val109Ile					GRIN2A_ENST00000562109.1_Missense_Mutation_p.V109I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V109I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V109I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V109I	p.V109I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			3	634	-			109					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.325G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	7.439	0.640383	0.14386	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000330684;ENST00000396575	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	4.54	3.46	0.39613	Extracellular ligand-binding receptor (1);	0.152333	0.38897	N	0.001532	T	0.67906	0.2943	N	0.04116	-0.275	0.80722	D	1	B;B;B	0.17268	0.021;0.002;0.001	B;B;B	0.17433	0.018;0.004;0.002	T	0.61352	-0.7080	9	.	.	.	.	6.8525	0.24022	0.0:0.747:0.0:0.253	.	109;109;109	Q547U9;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	I	109	ENSP00000379818:V109I;ENSP00000385872:V109I;ENSP00000332549:V109I;ENSP00000379820:V109I	.	V	-	1	0	GRIN2A	10181445	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.091000	0.57700	2.088000	0.63022	0.561000	0.74099	GTA		0.612	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			11	108	0	0	0	1	0	11	108				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			4	111	0	0	0	1	0	4	111				
CELSR2	1952	broad.mit.edu	37	1	109812119	109812119	+	Missense_Mutation	SNP	C	C	T	rs377326489		TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr1:109812119C>T	ENST00000271332.3	+	21	6947	c.6886C>T	c.(6886-6888)Cgg>Tgg	p.R2296W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2296					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)			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)		GCTTCTGCCCCGGGCCCTGGA	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18589	0.0		0.0	False		,,,				2504	0.0				NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				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						c.(6886-6888)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 2		C	TRP/ARG	0,4406		0,0,2203	69.0	63.0	65.0		6886	4.4	0.9	1		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR2	NM_001408.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2296/2924	109812119	1,13005	2203	4300	6503	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.chr1:109812119C>T	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.6886C>T	1.37:g.109812119C>T	ENSP00000271332:p.Arg2296Trp						p.R2296W	NM_001408.2	NP_001399.1	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)	21	6947	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2296					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.6886C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529714	0.64860	0.0	1.16E-4	ENSG00000143126	ENST00000271332	T	0.68903	-0.36	4.41	4.41	0.53225	.	.	.	.	.	T	0.61837	0.2379	L	0.42245	1.32	0.35781	D	0.821628	D	0.71674	0.998	P	0.59546	0.859	T	0.67589	-0.5632	9	0.66056	D	0.02	.	9.1181	0.36771	0.1622:0.6802:0.1576:0.0	.	2296	Q9HCU4	CELR2_HUMAN	W	2296	ENSP00000271332:R2296W	ENSP00000271332:R2296W	R	+	1	2	CELSR2	109613642	0.016000	0.18221	0.950000	0.38849	0.956000	0.61745	2.114000	0.41911	2.302000	0.77476	0.462000	0.41574	CGG		0.592	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		4	91	0	0	0	1	0	4	91				
SMCHD1	23347	broad.mit.edu	37	18	2760731	2760731	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr18:2760731T>G	ENST00000320876.6	+	35	4766	c.4428T>G	c.(4426-4428)agT>agG	p.S1476R	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1476R	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1476					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTCTCAACAGTGAACAGGTTT	0.294																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(4426-4428)agT>agG		structural maintenance of chromosomes flexible hinge domain containing 1							72.0	71.0	71.0					18																	2760731		1814	4067	5881	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2760731T>G	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4428T>G	18.37:g.2760731T>G	ENSP00000326603:p.Ser1476Arg					SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1476R|RP11-703M24.5_ENST00000583546.1_RNA	p.S1476R	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			35	4766	+			1476					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.4428T>G	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.573151	0.65765	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.27402	1.67;1.68	5.11	2.59	0.31030	.	0.082507	0.85682	D	0.000000	T	0.49372	0.1553	M	0.72894	2.215	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.44283	-0.9338	10	0.87932	D	0	-18.102	8.4493	0.32860	0.0:0.2153:0.0:0.7847	.	1476	A6NHR9	SMHD1_HUMAN	R	1476	ENSP00000326603:S1476R;ENSP00000261598:S1476R	ENSP00000261598:S1476R	S	+	3	2	SMCHD1	2750731	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.008000	0.29872	0.330000	0.23485	0.533000	0.62120	AGT		0.294	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			3	46	0	0	0	1	0	3	46				
ZHX3	23051	broad.mit.edu	37	20	39832183	39832183	+	Silent	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr20:39832183G>A	ENST00000309060.3	-	4	1789	c.1374C>T	c.(1372-1374)ccC>ccT	p.P458P	ZHX3_ENST00000540170.1_Silent_p.P458P|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Silent_p.P458P|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Silent_p.P458P|ZHX3_ENST00000544979.2_Silent_p.P458P|ZHX3_ENST00000560361.1_Silent_p.P458P			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	458	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CAGTGTTAATGGGTGCCACAC	0.572																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1372-1374)ccC>ccT		zinc fingers and homeoboxes 3							62.0	50.0	54.0					20																	39832183		2203	4300	6503	SO:0001819	synonymous_variant	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39832183G>A	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1374C>T	20.37:g.39832183G>A						ZHX3_ENST00000559234.1_Silent_p.P458P|ZHX3_ENST00000432768.2_Silent_p.P458P|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Silent_p.P458P|ZHX3_ENST00000540170.1_Silent_p.P458P|ZHX3_ENST00000560361.1_Silent_p.P458P	p.P458P			Q9H4I2	ZHX3_HUMAN			4	1789	-		Myeloproliferative disorder(115;0.00425)	458			Required for homodimerization and interaction with NFYA.|Required for repressor activity.		E1P5W5|F5H820|O43145|Q6NUJ7	Silent	SNP	ENST00000309060.3	37	c.1374C>T	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	G	5.698	0.313244	0.10789	.	.	ENSG00000174306	ENST00000421422	.	.	.	6.07	-2.55	0.06288	.	.	.	.	.	T	0.38799	0.1054	.	.	.	0.50632	D	0.999884	.	.	.	.	.	.	T	0.35425	-0.9789	4	.	.	.	-21.0808	1.4327	0.02337	0.4268:0.1899:0.2219:0.1614	.	.	.	.	Y	167	.	.	H	-	1	0	ZHX3	39265597	0.630000	0.27155	0.990000	0.47175	0.980000	0.70556	-0.083000	0.11286	-0.035000	0.13691	-0.136000	0.14681	CAT		0.572	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		10	57	0	0	0	1	0	10	57				
PROS1	5627	broad.mit.edu	37	3	93646107	93646107	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr3:93646107T>A	ENST00000394236.3	-	2	537	c.221A>T	c.(220-222)aAt>aTt	p.N74I	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	74	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TTCCGGGTCATTTTCAAAGAC	0.403																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(220-222)aAt>aTt		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						110.0	107.0	108.0					3																	93646107		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93646107T>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.221A>T	3.37:g.93646107T>A	ENSP00000377783:p.Asn74Ile					PROS1_ENST00000407433.1_5'UTR	p.N74I	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			2	537	-			74			Gla.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.221A>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108905	0.77096	.	.	ENSG00000184500	ENST00000394236;ENST00000348974	D;D	0.99252	-5.63;-5.63	4.53	4.53	0.55603	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.173980	0.49916	D	0.000130	D	0.99542	0.9836	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98008	1.0364	10	0.87932	D	0	.	13.9809	0.64304	0.0:0.0:0.0:1.0	.	74	P07225	PROS_HUMAN	I	74;106	ENSP00000377783:N74I;ENSP00000330021:N106I	ENSP00000330021:N106I	N	-	2	0	PROS1	95128797	1.000000	0.71417	0.884000	0.34674	0.925000	0.55904	7.200000	0.77838	2.032000	0.59987	0.368000	0.22195	AAT		0.403	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		13	115	0	0	0	1	0	13	115				
RYR1	6261	broad.mit.edu	37	19	38934381	38934381	+	Silent	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr19:38934381C>T	ENST00000359596.3	+	5	369	c.369C>T	c.(367-369)tcC>tcT	p.S123S	RYR1_ENST00000360985.3_Silent_p.S123S|RYR1_ENST00000355481.4_Silent_p.S123S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	123	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCACCACCTCCCGCTCCATGA	0.647																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(367-369)tcC>tcT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						92.0	75.0	80.0					19																	38934381		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38934381C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.369C>T	19.37:g.38934381C>T						RYR1_ENST00000359596.3_Silent_p.S123S|RYR1_ENST00000360985.3_Silent_p.S123S	p.S123S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		5	500	+	all_cancers(60;7.91e-06)		123			MIR 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.369C>T	CCDS33011.1																																																																																				0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			9	93	0	0	0	1	0	9	93				
MKL2	57496	broad.mit.edu	37	16	14304154	14304154	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr16:14304154G>A	ENST00000341243.5	+	2	176	c.176G>A	c.(175-177)gGc>gAc	p.G59D	MKL2_ENST00000571589.1_Missense_Mutation_p.G70D|MKL2_ENST00000318282.5_Missense_Mutation_p.G70D|MKL2_ENST00000572567.1_Missense_Mutation_p.G59D|MKL2_ENST00000574045.1_Missense_Mutation_p.G70D|MKL2_ENST00000573051.1_Missense_Mutation_p.G19D			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	59					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGGACCAGGGCATCATGCCA	0.493																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(208-210)gGc>gAc		MKL/myocardin-like 2							187.0	140.0	156.0					16																	14304154		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14304154G>A	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.176G>A	16.37:g.14304154G>A	ENSP00000345841:p.Gly59Asp					MKL2_ENST00000318282.5_Missense_Mutation_p.G70D|MKL2_ENST00000573051.1_Missense_Mutation_p.G19D|MKL2_ENST00000572567.1_Missense_Mutation_p.G59D|MKL2_ENST00000341243.5_Missense_Mutation_p.G59D|MKL2_ENST00000574045.1_Missense_Mutation_p.G70D	p.G70D	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			4	381	+			59					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.209G>A		.	.	.	.	.	.	.	.	.	.	g	35	5.436380	0.96168	.	.	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	D;D	0.99855	-7.2;-7.2	5.68	5.68	0.88126	.	0.048575	0.85682	D	0.000000	D	0.99871	0.9939	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96908	0.9665	10	0.72032	D	0.01	-29.7831	19.1345	0.93420	0.0:0.0:1.0:0.0	.	19;70;59;70	Q9ULH7-2;B4DGT8;Q9ULH7;Q9ULH7-4	.;.;MKL2_HUMAN;.	D	70;59;59	ENSP00000339086:G70D;ENSP00000345841:G59D	ENSP00000339086:G70D	G	+	2	0	MKL2	14211655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.549000	0.98106	2.838000	0.97847	0.655000	0.94253	GGC		0.493	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		9	81	0	0	0	1	0	9	81				
POLR2J4	84820	broad.mit.edu	37	7	44012847	44012847	+	RNA	SNP	G	G	A	rs144729196	byFrequency	TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr7:44012847G>A	ENST00000427076.1	-	0	969				RP5-1165K10.2_ENST00000454572.1_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		AAGCCACAGCGTGGAAGGTGG	0.612													N|||	102	0.0203674	0.003	0.0605	5008	,	,		20486	0.001		0.0507	False		,,,				2504	0.0041					ENST00000427076.1																			0																																																			0							g.chr7:44012847G>A			7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44012847G>A								NR_003655.2						0	969	-									RNA	SNP	ENST00000427076.1	37																																																																																						0.612	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473169.1	NR_003655		3	24	0	0	0	1	0	3	24				
TRHDE	29953	broad.mit.edu	37	12	73056936	73056936	+	Silent	SNP	C	C	T	rs200307970	byFrequency	TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr12:73056936C>T	ENST00000261180.4	+	19	3132	c.3036C>T	c.(3034-3036)gaC>gaT	p.D1012D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1012					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTTACCAAGACGAGCTTTTCC	0.388													C|||	2	0.000399361	0.0	0.0	5008	,	,		16857	0.001		0.001	False		,,,				2504	0.0					ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(3034-3036)gaC>gaT		thyrotropin-releasing hormone degrading enzyme							53.0	55.0	54.0					12																	73056936		2203	4300	6503	SO:0001819	synonymous_variant	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73056936C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.3036C>T	12.37:g.73056936C>T							p.D1012D	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			19	3132	+			1012					A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	c.3036C>T	CCDS9004.1																																																																																				0.388	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		6	66	0	0	0	1	0	6	66				
GMCL1	64395	broad.mit.edu	37	2	70068104	70068104	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr2:70068104G>A	ENST00000282570.3	+	4	763	c.512G>A	c.(511-513)cGa>cAa	p.R171Q		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	171	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TCACTGTATCGAGATGATGTC	0.388																																						ENST00000282570.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						c.(511-513)cGa>cAa		germ cell-less, spermatogenesis associated 1							148.0	123.0	131.0					2																	70068104		2203	4300	6503	SO:0001583	missense	64395				cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix		g.chr2:70068104G>A	AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"""BTB/POZ domain containing"""	23843	protein-coding gene	gene with protein product	"""spermatogenesis associated 29"""		"""germ cell-less homolog 1 (Drosophila)"""				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.512G>A	2.37:g.70068104G>A	ENSP00000282570:p.Arg171Gln						p.R171Q	NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN			4	763	+			171			BTB.		Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	ENST00000282570.3	37	c.512G>A	CCDS1895.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785481	0.90282	.	.	ENSG00000087338	ENST00000282570	T	0.70631	-0.5	4.04	4.04	0.47022	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.66197	0.2765	N	0.08118	0	0.53688	D	0.999979	D	0.76494	0.999	D	0.69142	0.962	T	0.64542	-0.6383	10	0.21014	T	0.42	-6.8167	14.0842	0.64944	0.0:0.0:1.0:0.0	.	171	Q96IK5	GMCL1_HUMAN	Q	171	ENSP00000282570:R171Q	ENSP00000282570:R171Q	R	+	2	0	GMCL1	69921608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.658000	0.91110	2.243000	0.73865	0.555000	0.69702	CGA		0.388	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439		4	48	0	0	0	1	0	4	48				
SPEN	23013	broad.mit.edu	37	1	16262301	16262301	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr1:16262301A>G	ENST00000375759.3	+	11	9770	c.9566A>G	c.(9565-9567)tAt>tGt	p.Y3189C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3189					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGCACCCCTATACTGTGCCA	0.607																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(9565-9567)tAt>tGt		spen family transcriptional repressor							72.0	65.0	68.0					1																	16262301		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16262301A>G		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9566A>G	1.37:g.16262301A>G	ENSP00000364912:p.Tyr3189Cys						p.Y3189C	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	9770	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3189					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.9566A>G	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.345465	0.24426	.	.	ENSG00000065526	ENST00000375759	T	0.09538	2.97	5.07	5.07	0.68467	.	.	.	.	.	T	0.27933	0.0688	L	0.60455	1.87	0.42212	D	0.991814	D	0.76494	0.999	D	0.71414	0.973	T	0.01245	-1.1407	9	0.37606	T	0.19	-8.6994	14.8231	0.70087	1.0:0.0:0.0:0.0	.	3189	Q96T58	MINT_HUMAN	C	3189	ENSP00000364912:Y3189C	ENSP00000364912:Y3189C	Y	+	2	0	SPEN	16134888	1.000000	0.71417	0.952000	0.39060	0.342000	0.28953	3.131000	0.50515	1.898000	0.54952	0.482000	0.46254	TAT		0.607	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		11	87	0	0	0	1	0	11	87				
LRRC37A11P	342666	broad.mit.edu	37	17	37188037	37188037	+	RNA	SNP	A	A	G	rs34112047	byFrequency	TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr17:37188037A>G	ENST00000425901.2	+	0	1879					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		GCCAGGATCAAGCTCAGCATC	0.512													A|||	1328	0.265176	0.0658	0.4438	5008	,	,		23535	0.3333		0.2883	False		,,,				2504	0.3139					ENST00000425901.2																			0																																																			0							g.chr17:37188037A>G			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37188037A>G								NR_033753.2						0	1879	+									RNA	SNP	ENST00000425901.2	37																																																																																						0.512	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		3	54	0	0	0	1	0	3	54				
SMARCC2	6601	broad.mit.edu	37	12	56558126	56558126	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr12:56558126C>G	ENST00000267064.4	-	27	3615	c.3529G>C	c.(3529-3531)Gtt>Ctt	p.V1177L	SMARCC2_ENST00000394023.3_Missense_Mutation_p.V1115L|SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1208L|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1177	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTGCCCTGAACAGCTGCCACA	0.662																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3343-3345)Gtt>Ctt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							34.0	37.0	36.0					12																	56558126		2196	4286	6482	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558126C>G	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3529G>C	12.37:g.56558126C>G	ENSP00000267064:p.Val1177Leu					SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000267064.4_Missense_Mutation_p.V1177L|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1208L	p.V1115L	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		29	3448	-			1079			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.3343G>C	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824777	0.50739	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000267064	T;T;T	0.44083	1.16;0.93;0.95	5.28	5.28	0.74379	.	0.000000	0.42548	D	0.000686	T	0.22589	0.0545	N	0.08118	0	0.27682	N	0.946426	B;B;B	0.16396	0.017;0.01;0.01	B;B;B	0.08055	0.003;0.001;0.002	T	0.09422	-1.0675	10	0.87932	D	0	-10.1663	8.4904	0.33098	0.0:0.8328:0.0:0.1672	.	1115;1119;1177	F8VTJ5;Q59G16;Q8TAQ2	.;.;SMRC2_HUMAN	L	1115;1208;1177	ENSP00000377591:V1115L;ENSP00000449396:V1208L;ENSP00000267064:V1177L	ENSP00000267064:V1177L	V	-	1	0	SMARCC2	54844393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.495000	0.35627	2.639000	0.89480	0.563000	0.77884	GTT		0.662	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			7	108	0	0	0	1	0	7	108				
RYBP	23429	broad.mit.edu	37	3	72495650	72495650	+	Silent	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr3:72495650G>A	ENST00000477973.2	-	1	419	c.420C>T	c.(418-420)caC>caT	p.H140H		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		CAAGTACCTGGTGGAGGTGCC	0.438																																						ENST00000477973.1																			0				prostate(1)|upper_aerodigestive_tract(1)	2						c.(418-420)caC>caT		RING1 and YY1 binding protein							71.0	68.0	69.0					3																	72495650		1878	4112	5990	SO:0001819	synonymous_variant	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72495650G>A	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"""YY1 and E4TF1 associated factor 1"", ""ring1 interactor RYBP"", ""apoptin-associating protein 1"", ""death effector domain-associated factor"""	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.420C>T	3.37:g.72495650G>A							p.H140H	NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	1	419	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	0					Q9P2W5|Q9UMW4	Silent	SNP	ENST00000477973.2	37	c.420C>T																																																																																					0.438	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	NM_012234		4	32	0	0	0	1	0	4	32				
HPS5	11234	broad.mit.edu	37	11	18313152	18313152	+	Silent	SNP	T	T	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr11:18313152T>C	ENST00000349215.3	-	16	2554	c.2277A>G	c.(2275-2277)ggA>ggG	p.G759G	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Silent_p.G645G|HPS5_ENST00000396253.3_Silent_p.G645G	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	759					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGTCCACATGTCCACTGGTGC	0.433									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1933-1935)ggA>ggG		Hermansky-Pudlak syndrome 5							148.0	137.0	141.0					11																	18313152		2199	4293	6492	SO:0001819	synonymous_variant	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18313152T>C	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2277A>G	11.37:g.18313152T>C						HPS5_ENST00000349215.3_Silent_p.G759G|HPS5_ENST00000438420.2_Silent_p.G645G|HPS5_ENST00000352460.3_5'UTR	p.G645G	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			15	2397	-			759					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	ENST00000349215.3	37	c.1935A>G	CCDS7836.1																																																																																				0.433	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		11	123	0	0	0	1	0	11	123				
SEMA3D	223117	broad.mit.edu	37	7	84628962	84628962	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr7:84628962G>A	ENST00000284136.6	-	17	2171	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	710					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TATCTCAACCGTGACTCAGCC	0.488																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(2128-2130)Cgg>Tgg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							163.0	135.0	145.0					7																	84628962		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84628962G>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2128C>T	7.37:g.84628962G>A	ENSP00000284136:p.Arg710Trp					SEMA3D_ENST00000484038.1_5'UTR	p.R710W	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			17	2171	-			710					A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.2128C>T	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499483	0.64298	.	.	ENSG00000153993	ENST00000284136	T	0.33654	1.4	5.73	3.85	0.44370	.	0.053759	0.85682	D	0.000000	T	0.34948	0.0915	L	0.56769	1.78	0.80722	D	1	D	0.62365	0.991	B	0.40410	0.328	T	0.43294	-0.9400	10	0.87932	D	0	.	13.9238	0.63950	0.0:0.0:0.6039:0.3961	.	710	O95025	SEM3D_HUMAN	W	710	ENSP00000284136:R710W	ENSP00000284136:R710W	R	-	1	2	SEMA3D	84466898	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.656000	0.54467	1.411000	0.46957	0.655000	0.94253	CGG		0.488	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		6	100	0	0	0	1	0	6	100				
TIGD5	84948	broad.mit.edu	37	8	144681434	144681434	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr8:144681434T>C	ENST00000504548.2	+	1	1361	c.1361T>C	c.(1360-1362)cTc>cCc	p.L454P	TIGD5_ENST00000321385.3_Missense_Mutation_p.L405P|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000526838.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000528610.1_5'Flank|EEF1D_ENST00000442189.2_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	454	DDE 2.					nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGCTTCATGCTCAAGGACATG	0.667																																						ENST00000321385.3																			0				NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7						c.(1213-1215)cTc>cCc		tigger transposable element derived 5							23.0	24.0	23.0					8																	144681434		2189	4290	6479	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144681434T>C	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1361T>C	8.37:g.144681434T>C	ENSP00000421489:p.Leu454Pro					TIGD5_ENST00000504548.2_Missense_Mutation_p.L454P	p.L405P			E7EWS2	E7EWS2_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1361	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		454					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.1214T>C	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	T	16.58	3.163734	0.57476	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.50277	0.75;0.75	4.3	4.3	0.51218	.	0.000000	0.50627	U	0.000114	T	0.60405	0.2266	L	0.48642	1.525	0.50813	D	0.999896	D	0.89917	1.0	D	0.77557	0.99	T	0.63888	-0.6535	10	0.87932	D	0	.	12.6665	0.56846	0.0:0.0:0.0:1.0	.	405	Q53EQ6	TIGD5_HUMAN	P	454;405	ENSP00000421489:L454P;ENSP00000315906:L405P	ENSP00000315906:L405P	L	+	2	0	TIGD5	144752577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.074000	0.57577	1.570000	0.49709	0.533000	0.62120	CTC		0.667	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862		6	25	0	0	0	1	0	6	25				
PTPN9	5780	broad.mit.edu	37	15	75801287	75801287	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr15:75801287G>C	ENST00000306726.2	-	6	1122	c.610C>G	c.(610-612)Ctc>Gtc	p.L204V		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	204	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCAGGAGGAGACTGATGATG	0.473																																						ENST00000306726.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(610-612)Ctc>Gtc		protein tyrosine phosphatase, non-receptor type 9							72.0	69.0	70.0					15																	75801287		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75801287G>C		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.610C>G	15.37:g.75801287G>C	ENSP00000303554:p.Leu204Val						p.L204V	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN			6	1122	-			204			CRAL-TRIO.		Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.610C>G	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808279	0.50421	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	D	0.84370	-1.84	5.48	3.35	0.38373	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.133960	0.51477	N	0.000086	T	0.78323	0.4265	L	0.48877	1.53	0.48901	D	0.999724	P	0.41080	0.737	B	0.36289	0.221	T	0.76310	-0.3006	10	0.31617	T	0.26	.	12.6584	0.56799	0.0:0.1183:0.7447:0.137	.	204	P43378	PTN9_HUMAN	V	204;194	ENSP00000303554:L204V	ENSP00000303554:L204V	L	-	1	0	PTPN9	73588342	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.015000	0.64035	1.275000	0.44379	0.467000	0.42956	CTC		0.473	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			6	42	0	0	0	1	0	6	42				
HHAT	55733	broad.mit.edu	37	1	210577986	210577986	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr1:210577986A>C	ENST00000367010.1	+	6	874	c.647A>C	c.(646-648)aAt>aCt	p.N216T	HHAT_ENST00000308852.6_Missense_Mutation_p.N171T|HHAT_ENST00000545781.1_Missense_Mutation_p.N153T|HHAT_ENST00000391905.3_Missense_Mutation_p.N216T|HHAT_ENST00000537898.1_Missense_Mutation_p.N151T|HHAT_ENST00000261458.3_Missense_Mutation_p.N216T|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000413764.2_Missense_Mutation_p.N216T|HHAT_ENST00000545154.1_Missense_Mutation_p.N217T	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	216					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCTTACACAATGGGCCCATC	0.532																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(646-648)aAt>aCt		hedgehog acyltransferase							76.0	72.0	74.0					1																	210577986		2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210577986A>C	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.647A>C	1.37:g.210577986A>C	ENSP00000355977:p.Asn216Thr					HHAT_ENST00000261458.3_Missense_Mutation_p.N216T|HHAT_ENST00000413764.2_Missense_Mutation_p.N216T|HHAT_ENST00000537898.1_Missense_Mutation_p.N151T|HHAT_ENST00000308852.6_Missense_Mutation_p.N171T|HHAT_ENST00000545781.1_Missense_Mutation_p.N153T|HHAT_ENST00000391905.3_Missense_Mutation_p.N216T|HHAT_ENST00000545154.1_Missense_Mutation_p.N217T|HHAT_ENST00000541565.1_Intron	p.N216T	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	6	874	+			216					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.647A>C	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.988560	0.53934	.	.	ENSG00000054392	ENST00000413764;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000426968	T;T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.69815	0.3153	M	0.62723	1.935	0.54753	D	0.999986	B;B;P;P	0.36768	0.096;0.078;0.569;0.513	B;B;B;B	0.38880	0.098;0.036;0.284;0.202	T	0.69191	-0.5210	10	0.33141	T	0.24	-25.3402	15.3723	0.74573	1.0:0.0:0.0:0.0	.	171;217;151;216	B7Z2U8;F5H444;B7Z5I1;Q5VTY9	.;.;.;HHAT_HUMAN	T	216;217;151;216;153;216;171;216;88	ENSP00000416845:N216T;ENSP00000438468:N217T;ENSP00000442625:N151T;ENSP00000375773:N216T;ENSP00000439229:N153T;ENSP00000261458:N216T;ENSP00000308628:N171T;ENSP00000355977:N216T;ENSP00000413399:N88T	ENSP00000261458:N216T	N	+	2	0	HHAT	208644609	1.000000	0.71417	0.998000	0.56505	0.737000	0.42083	8.233000	0.89799	2.107000	0.64212	0.482000	0.46254	AAT		0.532	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		11	89	0	0	0	1	0	11	89				
IL12A-AS1	101928376	broad.mit.edu	37	3	159818785	159818785	+	RNA	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr3:159818785G>A	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		CAGCCTCTTCGAAGACAAAAA	0.493																																						ENST00000497452.1																			0																																																			0							g.chr3:159818785G>A	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159818785G>A														0	517	-									RNA	SNP	ENST00000497452.1	37																																																																																						0.493	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			7	222	0	0	0	1	0	7	222				
SPAG9	9043	broad.mit.edu	37	17	49097614	49097614	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr17:49097614C>A	ENST00000262013.7	-	8	1205	c.997G>T	c.(997-999)Gct>Tct	p.A333S	SPAG9_ENST00000510283.1_Missense_Mutation_p.A176S|SPAG9_ENST00000505279.1_Missense_Mutation_p.A319S|SPAG9_ENST00000357122.4_Missense_Mutation_p.A319S	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	333					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TCATTTTCAGCAGAGCCTTAA	0.338																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(997-999)Gct>Tct		sperm associated antigen 9							94.0	85.0	88.0					17																	49097614		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49097614C>A	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.997G>T	17.37:g.49097614C>A	ENSP00000262013:p.Ala333Ser					SPAG9_ENST00000357122.4_Missense_Mutation_p.A319S|SPAG9_ENST00000505279.1_Missense_Mutation_p.A319S|SPAG9_ENST00000510283.1_Missense_Mutation_p.A176S	p.A333S	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		8	1205	-			333					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.997G>T	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748362	0.49257	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000511795	T;T;T;T	0.22134	1.97;1.98;1.98;1.98	5.37	4.19	0.49359	.	0.869884	0.10406	N	0.678492	T	0.10252	0.0251	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.21147	0.052;0.026;0.001;0.001;0.007;0.003	B;B;B;B;B;B	0.28916	0.046;0.096;0.009;0.004;0.018;0.007	T	0.38779	-0.9645	10	0.09338	T	0.73	-0.8009	6.2208	0.20681	0.0:0.7266:0.0:0.2734	.	319;333;319;333;319;176	O60271-5;O60271-3;O60271-2;O60271;O60271-4;E7ENU2	.;.;.;JIP4_HUMAN;.;.	S	333;89;75;75;176;319;319;3	ENSP00000262013:A333S;ENSP00000423165:A176S;ENSP00000426900:A319S;ENSP00000349636:A319S	ENSP00000262013:A333S	A	-	1	0	SPAG9	46452613	0.992000	0.36948	0.953000	0.39169	0.377000	0.30045	1.572000	0.36461	2.517000	0.84864	0.563000	0.77884	GCT		0.338	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		3	28	1	0	0.115264	1	0.115264	3	28				
CHAT	1103	broad.mit.edu	37	10	50835782	50835782	+	Silent	SNP	G	G	A	rs529337162	byFrequency	TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr10:50835782G>A	ENST00000337653.2	+	7	1215	c.1062G>A	c.(1060-1062)acG>acA	p.T354T	CHAT_ENST00000339797.1_Silent_p.T236T|CHAT_ENST00000351556.3_Silent_p.T236T|CHAT_ENST00000395559.2_Silent_p.T236T|CHAT_ENST00000395562.2_Silent_p.T272T|CHAT_ENST00000455728.2_Silent_p.T236T	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	354					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)			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)	GCCTGCTGACGTCTGACGGGA	0.592													G|||	8	0.00159744	0.0	0.0	5008	,	,		21417	0.0		0.0	False		,,,				2504	0.0082					ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(814-816)acG>acA		choline O-acetyltransferase	Choline(DB00122)						99.0	82.0	88.0					10																	50835782		2203	4300	6503	SO:0001819	synonymous_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50835782G>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.1062G>A	10.37:g.50835782G>A						CHAT_ENST00000351556.3_Silent_p.T236T|CHAT_ENST00000395559.2_Silent_p.T236T|CHAT_ENST00000455728.2_Silent_p.T236T|CHAT_ENST00000339797.1_Silent_p.T236T|CHAT_ENST00000337653.2_Silent_p.T354T	p.T272T	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	8	1285	+		all_neural(218;0.107)	354					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	c.816G>A	CCDS7232.1																																																																																				0.592	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		7	71	0	0	0	1	0	7	71				
PDE1C	5137	broad.mit.edu	37	7	31862844	31862844	+	Silent	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr7:31862844C>T	ENST00000396191.1	-	14	1880	c.1425G>A	c.(1423-1425)tcG>tcA	p.S475S	PDE1C_ENST00000479980.1_5'Flank|PDE1C_ENST00000396182.2_Silent_p.S475S|PDE1C_ENST00000396184.3_Silent_p.S475S|PDE1C_ENST00000321453.7_Silent_p.S475S|PDE1C_ENST00000396193.1_Silent_p.S535S	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	475	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TGGCATCTGACGAGCTGATGC	0.438																																						ENST00000396184.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(1423-1425)tcG>tcA		phosphodiesterase 1C, calmodulin-dependent 70kDa							70.0	66.0	67.0					7																	31862844		2203	4300	6503	SO:0001819	synonymous_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31862844C>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1425G>A	7.37:g.31862844C>T						PDE1C_ENST00000396182.2_Silent_p.S475S|PDE1C_ENST00000396191.1_Silent_p.S475S|PDE1C_ENST00000396193.1_Silent_p.S535S|PDE1C_ENST00000321453.7_Silent_p.S475S	p.S475S	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		15	1629	-			475			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396191.1	37	c.1425G>A	CCDS55099.1																																																																																				0.438	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			7	60	0	0	0	1	0	7	60				
APOB	338	broad.mit.edu	37	2	21266775	21266783	+	In_Frame_Del	DEL	GCAGCGCCA	GCAGCGCCA	-	rs17240441	byFrequency	TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr2:21266775_21266783delGCAGCGCCA	ENST00000233242.1	-	1	162_170	c.35_43delTGGCGCTGC	c.(34-45)ctggcgctgcct>cct	p.LAL12del	APOB_ENST00000399256.4_In_Frame_Del_p.LAL12del	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	12			Missing. {ECO:0000269|PubMed:22095935}.	Missing (in Ref. 5; AAB60718/CAA28420). {ECO:0000305}.	artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					agcagcgcaggcagcgccagcagcgccag	0.794														1108	0.221246	0.202	0.3271	5008	,	,		8689	0.1815		0.3012	False		,,,				2504	0.1309					ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	GRCh37	CD068106	APOB	D	rs17240441	c.(34-45)cct>c		apolipoprotein B	Atorvastatin(DB01076)			24,258		10,4,127						-3.0	0.0		dbSNP_123	1	109,613		53,3,305	no	coding	APOB	NM_000384.2		63,7,432	A1A1,A1R,RR		15.097,8.5106,13.247				133,871				SO:0001651	inframe_deletion	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21266775_21266783delGCAGCGCCA	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.35_43delTGGCGCTGC	2.37:g.21266784_21266792delGCAGCGCCA	ENSP00000233242:p.Leu12_Leu14del					APOB_ENST00000399256.4_In_Frame_Del_p.LALP12del	p.LALP12del	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			1	162_170	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		12	Missing (in Ref. 5; AAB60718/CAA28420).				O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	In_Frame_Del	DEL	ENST00000233242.1	37	c.35_43delTGGCGCTGC	CCDS1703.1																																																																																				0.794	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			2	4						2	4	---	---	---	---
FAM115C	285966	broad.mit.edu	37	7	143417404	143417405	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr7:143417404_143417405delCT	ENST00000441159.2	+	3	1318_1319	c.1252_1253delCT	c.(1252-1254)ctcfs	p.L418fs	FAM115C_ENST00000411497.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000411935.1_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000444908.2_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000425618.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000357344.4_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000409703.3_Frame_Shift_Del_p.L254fs			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	418					hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						CCGCAAGGCGCTCTCTCAATTC	0.53																																						ENST00000441159.2																			0				endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						c.(1252-1254)cfs		family with sequence similarity 115, member C			,,	39,207		18,3,102					,,	-7.1	0.0			1	22,442		10,2,220	no	frameshift,frameshift,frameshift	FAM115C	NM_173678.2,NM_001130026.2,NM_001130025.1	,,	28,5,322	A1A1,A1R,RR		4.7414,15.8537,8.5915	,,	,,		61,649				SO:0001589	frameshift_variant	285966							g.chr7:143417404_143417405delCT	AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.1252_1253delCT	7.37:g.143417408_143417409delCT	ENSP00000404265:p.Leu418fs					FAM115C_ENST00000411497.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000409703.3_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000357344.4_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000411935.1_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000425618.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000444908.2_Frame_Shift_Del_p.L418fs	p.L418fs			A6NFQ2	F115C_HUMAN			3	1318_1319	+			418					B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Frame_Shift_Del	DEL	ENST00000441159.2	37	c.1252_1253delCT																																																																																					0.530	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330287.1	NM_173678		3	3						3	3	---	---	---	---
RABL6	55684	broad.mit.edu	37	9	139734633	139734635	+	In_Frame_Del	DEL	AGA	AGA	-	rs571278001|rs145591109		TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr9:139734633_139734635delAGA	ENST00000311502.7	+	14	2194_2196	c.1958_1960delAGA	c.(1957-1962)gagaag>gag	p.K660del	RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371675.3_In_Frame_Del_p.K545del|RABL6_ENST00000371663.4_In_Frame_Del_p.K661del			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	660	Interaction with CDKN2A.|Lys-rich.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										CCCTCTaaggagaagaagaagaa	0.571																																						ENST00000371675.3																			0											c.(1612-1617)gag>g		RAB, member RAS oncogene family-like 6			,	149,3501		4,141,1680					,	2.6	1.0		dbSNP_134	65	433,7429		12,409,3510	no	coding,coding	C9orf86	NM_024718.4,NM_001173988.1	,	16,550,5190	A1A1,A1R,RR		5.5075,4.0822,5.0556	,	,		582,10930				SO:0001651	inframe_deletion	55684							g.chr9:139734633_139734635delAGA	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1958_1960delAGA	9.37:g.139734642_139734644delAGA	ENSP00000311134:p.Lys660del					RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del	p.EK538del							14	2498_2500	+								A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	In_Frame_Del	DEL	ENST00000311502.7	37	c.1613_1615delAGA	CCDS48058.1																																																																																				0.571	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		10	120						10	120	---	---	---	---
NAA25	80018	broad.mit.edu	37	12	112486111	112486113	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr12:112486111_112486113delAGA	ENST00000261745.4	-	16	2111_2113	c.1863_1865delTCT	c.(1861-1866)cttcta>cta	p.621_622LL>L		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	621						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TGCTTCAAGTAGAAGGTCTAACA	0.399																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(1861-1866)cta>ct		N(alpha)-acetyltransferase 25, NatB auxiliary subunit																																				SO:0001651	inframe_deletion	80018					cytoplasm	protein binding	g.chr12:112486111_112486113delAGA	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1863_1865delTCT	12.37:g.112486111_112486113delAGA	ENSP00000261745:p.Leu623del						p.LL621del	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			16	2111_2113	-			621					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	In_Frame_Del	DEL	ENST00000261745.4	37	c.1863_1865delTCT	CCDS9159.1																																																																																				0.399	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		8	65						8	65	---	---	---	---
HEATR5A	25938	broad.mit.edu	37	14	31841095	31841095	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr14:31841095delG	ENST00000389961.3	-	12	1863	c.1864delC	c.(1864-1866)cacfs	p.H622fs	HEATR5A_ENST00000543095.2_Frame_Shift_Del_p.H628fs|HEATR5A_ENST00000439727.1_Frame_Shift_Del_p.H335fs|HEATR5A_ENST00000439348.1_Frame_Shift_Del_p.H622fs|HEATR5A_ENST00000404677.3_Frame_Shift_Del_p.H628fs			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	622										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCACCACAGTGGGAAACAAAG	0.408																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(1882-1884)acfs		HEAT repeat containing 5A							50.0	47.0	48.0					14																	31841095		1906	4100	6006	SO:0001589	frameshift_variant	25938						binding	g.chr14:31841095delG	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1864delC	14.37:g.31841095delG	ENSP00000374611:p.His622fs					HEATR5A_ENST00000389961.3_Frame_Shift_Del_p.H622fs|HEATR5A_ENST00000439348.1_Frame_Shift_Del_p.H622fs|HEATR5A_ENST00000404677.3_Frame_Shift_Del_p.H628fs|HEATR5A_ENST00000439727.1_Frame_Shift_Del_p.H335fs	p.H628fs	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	13	2066	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		622					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Frame_Shift_Del	DEL	ENST00000389961.3	37	c.1882delC																																																																																					0.408	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		2	4						2	4	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21142454	21142455	+	RNA	INS	-	-	C	rs556051843|rs45603533|rs11482592|rs73133315	byFrequency	TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr20:21142454_21142455insC	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							AAAAAAAAAAACCCCACCTAAT	0.376													|||unknown(HR)	2735	0.546126	0.2625	0.5648	5008	,	,		17164	0.5595		0.6471	False		,,,				2504	0.7986					ENST00000591761.1																			0																																																			0							g.chr20:21142454_21142455insC																													20.37:g.21142458_21142458dupC						RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA								0	5142	-									RNA	INS	ENST00000591761.1	37																																																																																						0.376	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			8	15						8	15	---	---	---	---
APOB	338	broad.mit.edu	37	2	21266775	21266783	+	In_Frame_Del	DEL	GCAGCGCCA	GCAGCGCCA	-	rs17240441	byFrequency	TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr2:21266775_21266783delGCAGCGCCA	ENST00000233242.1	-	1	162_170	c.35_43delTGGCGCTGC	c.(34-45)ctggcgctgcct>cct	p.LAL12del	APOB_ENST00000399256.4_In_Frame_Del_p.LAL12del	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	12			Missing. {ECO:0000269|PubMed:22095935}.	Missing (in Ref. 5; AAB60718/CAA28420). {ECO:0000305}.	artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					agcagcgcaggcagcgccagcagcgccag	0.794														1108	0.221246	0.202	0.3271	5008	,	,		8689	0.1815		0.3012	False		,,,				2504	0.1309					ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	GRCh37	CD068106	APOB	D	rs17240441	c.(34-45)cct>c		apolipoprotein B	Atorvastatin(DB01076)			24,258		10,4,127						-3.0	0.0		dbSNP_123	1	109,613		53,3,305	no	coding	APOB	NM_000384.2		63,7,432	A1A1,A1R,RR		15.097,8.5106,13.247				133,871				SO:0001651	inframe_deletion	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21266775_21266783delGCAGCGCCA	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.35_43delTGGCGCTGC	2.37:g.21266784_21266792delGCAGCGCCA	ENSP00000233242:p.Leu12_Leu14del					APOB_ENST00000399256.4_In_Frame_Del_p.LALP12del	p.LALP12del	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			1	162_170	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		12	Missing (in Ref. 5; AAB60718/CAA28420).				O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	In_Frame_Del	DEL	ENST00000233242.1	37	c.35_43delTGGCGCTGC	CCDS1703.1																																																																																				0.794	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			2	4						2	4	---	---	---	---
FAM115C	285966	broad.mit.edu	37	7	143417404	143417405	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr7:143417404_143417405delCT	ENST00000441159.2	+	3	1318_1319	c.1252_1253delCT	c.(1252-1254)ctcfs	p.L418fs	FAM115C_ENST00000411497.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000411935.1_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000444908.2_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000425618.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000357344.4_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000409703.3_Frame_Shift_Del_p.L254fs			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	418					hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						CCGCAAGGCGCTCTCTCAATTC	0.53																																						ENST00000441159.2																			0				endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						c.(1252-1254)cfs		family with sequence similarity 115, member C			,,	39,207		18,3,102					,,	-7.1	0.0			1	22,442		10,2,220	no	frameshift,frameshift,frameshift	FAM115C	NM_173678.2,NM_001130026.2,NM_001130025.1	,,	28,5,322	A1A1,A1R,RR		4.7414,15.8537,8.5915	,,	,,		61,649				SO:0001589	frameshift_variant	285966							g.chr7:143417404_143417405delCT	AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.1252_1253delCT	7.37:g.143417408_143417409delCT	ENSP00000404265:p.Leu418fs					FAM115C_ENST00000411497.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000411935.1_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000409703.3_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000357344.4_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000425618.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000444908.2_Frame_Shift_Del_p.L418fs	p.L418fs			A6NFQ2	F115C_HUMAN			3	1318_1319	+			418					B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Frame_Shift_Del	DEL	ENST00000441159.2	37	c.1252_1253delCT																																																																																					0.530	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330287.1	NM_173678		3	3						3	3	---	---	---	---
NAA25	80018	broad.mit.edu	37	12	112486111	112486113	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr12:112486111_112486113delAGA	ENST00000261745.4	-	16	2111_2113	c.1863_1865delTCT	c.(1861-1866)cttcta>cta	p.621_622LL>L		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	621						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TGCTTCAAGTAGAAGGTCTAACA	0.399																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(1861-1866)cta>ct		N(alpha)-acetyltransferase 25, NatB auxiliary subunit																																				SO:0001651	inframe_deletion	80018					cytoplasm	protein binding	g.chr12:112486111_112486113delAGA	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1863_1865delTCT	12.37:g.112486111_112486113delAGA	ENSP00000261745:p.Leu623del						p.LL621del	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			16	2111_2113	-			621					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	In_Frame_Del	DEL	ENST00000261745.4	37	c.1863_1865delTCT	CCDS9159.1																																																																																				0.399	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		8	65						8	65	---	---	---	---
HEATR5A	25938	broad.mit.edu	37	14	31841095	31841095	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr14:31841095delG	ENST00000389961.3	-	12	1863	c.1864delC	c.(1864-1866)cacfs	p.H622fs	HEATR5A_ENST00000543095.2_Frame_Shift_Del_p.H628fs|HEATR5A_ENST00000439727.1_Frame_Shift_Del_p.H335fs|HEATR5A_ENST00000439348.1_Frame_Shift_Del_p.H622fs|HEATR5A_ENST00000404677.3_Frame_Shift_Del_p.H628fs			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	622										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCACCACAGTGGGAAACAAAG	0.408																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(1882-1884)acfs		HEAT repeat containing 5A							50.0	47.0	48.0					14																	31841095		1906	4100	6006	SO:0001589	frameshift_variant	25938						binding	g.chr14:31841095delG	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1864delC	14.37:g.31841095delG	ENSP00000374611:p.His622fs					HEATR5A_ENST00000439348.1_Frame_Shift_Del_p.H622fs|HEATR5A_ENST00000404677.3_Frame_Shift_Del_p.H628fs|HEATR5A_ENST00000439727.1_Frame_Shift_Del_p.H335fs|HEATR5A_ENST00000389961.3_Frame_Shift_Del_p.H622fs	p.H628fs	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	13	2066	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		622					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Frame_Shift_Del	DEL	ENST00000389961.3	37	c.1882delC																																																																																					0.408	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		2	4						2	4	---	---	---	---
