#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
ADCY2	108	broad.mit.edu	37	5	7706894	7706894	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr5:7706894C>T	ENST00000338316.4	+	8	1236	c.1147C>T	c.(1147-1149)Cgc>Tgc	p.R383C	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.R203C	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	383					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TATCAACATGCGCGTGGGCGT	0.473																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1147-1149)Cgc>Tgc		adenylate cyclase 2 (brain)							274.0	241.0	252.0					5																	7706894		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7706894C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1147C>T	5.37:g.7706894C>T	ENSP00000342952:p.Arg383Cys					ADCY2_ENST00000537121.1_Missense_Mutation_p.R203C	p.R383C	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			8	1236	+			383					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1147C>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862584	0.91511	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	D;D	0.88277	-2.36;-2.36	5.29	5.29	0.74685	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.97269	0.9107	H	0.99156	4.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99167	1.0863	10	0.87932	D	0	.	18.964	0.92687	0.0:1.0:0.0:0.0	.	203;383	B7Z2C1;Q08462	.;ADCY2_HUMAN	C	383;234;203	ENSP00000342952:R383C;ENSP00000444803:R203C	ENSP00000342952:R383C	R	+	1	0	ADCY2	7759894	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.771000	0.68881	2.480000	0.83734	0.655000	0.94253	CGC		0.473	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		57	224	0	0	0	1	0	57	224				
WNK2	65268	broad.mit.edu	37	9	96021600	96021600	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr9:96021600G>A	ENST00000297954.4	+	11	2770	c.2770G>A	c.(2770-2772)Gtc>Atc	p.V924I	WNK2_ENST00000395477.2_Missense_Mutation_p.V924I|WNK2_ENST00000427277.2_Missense_Mutation_p.V536I|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.V536I|WNK2_ENST00000356055.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	924					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCCTACTGACGTCCCTCCTTC	0.667																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(2770-2772)Gtc>Atc		WNK lysine deficient protein kinase 2							84.0	69.0	74.0					9																	96021600		2203	4300	6503	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96021600G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.2770G>A	9.37:g.96021600G>A	ENSP00000297954:p.Val924Ile					WNK2_ENST00000395477.2_Missense_Mutation_p.V924I|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.V536I|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.V536I	p.V924I			Q9Y3S1	WNK2_HUMAN			11	2770	+			924					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.2770G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.922|5.922	0.354105|0.354105	0.11182|0.11182	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277	.|T;T;T;T	.|0.69435	.|-0.4;-0.39;0.17;0.16	5.11|5.11	1.72|1.72	0.24424|0.24424	.|.	.|0.783303	.|0.11827	.|N	.|0.525572	T|T	0.56124|0.56124	0.1964|0.1964	L|L	0.34521|0.34521	1.04|1.04	0.36797|0.36797	D|D	0.885158|0.885158	.|B;B;D;B;B	.|0.55385	.|0.054;0.006;0.971;0.054;0.032	.|B;B;P;B;B	.|0.44772	.|0.004;0.004;0.46;0.004;0.003	T|T	0.52823|0.52823	-0.8524|-0.8524	5|9	.|.	.|.	.|.	.|.	10.0034|10.0034	0.41942|0.41942	0.2239:0.0:0.7761:0.0|0.2239:0.0:0.7761:0.0	.|.	.|924;924;527;924;924	.|Q9Y3S1-2;Q9Y3S1-4;A6PVR4;F8W9F9;Q9Y3S1	.|.;.;.;.;WNK2_HUMAN	H|I	527|924;924;536;536	.|ENSP00000297954:V924I;ENSP00000378860:V924I;ENSP00000297876:V536I;ENSP00000411181:V536I	.|.	R|V	+|+	2|1	0|0	WNK2|WNK2	95061421|95061421	0.332000|0.332000	0.24722|0.24722	0.081000|0.081000	0.20488|0.20488	0.025000|0.025000	0.11179|0.11179	0.661000|0.661000	0.25023|0.25023	-0.018000|-0.018000	0.14079|0.14079	0.462000|0.462000	0.41574|0.41574	CGT|GTC		0.667	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		25	28	0	0	0	1	0	25	28				
PLCL1	5334	broad.mit.edu	37	2	198950713	198950713	+	Silent	SNP	G	G	A			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr2:198950713G>A	ENST00000428675.1	+	2	2870	c.2472G>A	c.(2470-2472)cgG>cgA	p.R824R	PLCL1_ENST00000437704.2_Silent_p.R726R	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	824					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTGGATATCGGCATGTTCCCC	0.448																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2470-2472)cgG>cgA		phospholipase C-like 1	Quinacrine(DB01103)						210.0	184.0	192.0					2																	198950713		2203	4300	6503	SO:0001819	synonymous_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950713G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2472G>A	2.37:g.198950713G>A						PLCL1_ENST00000437704.2_Silent_p.R726R	p.R824R	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	2870	+			824					Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.2472G>A	CCDS2326.2																																																																																				0.448	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		4	86	0	0	0	1	0	4	86				
FAM86C2P	645332	broad.mit.edu	37	11	67560661	67560661	+	RNA	SNP	G	G	A			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr11:67560661G>A	ENST00000528089.1	-	0	1089							A6NEL3	F86C2_HUMAN	family with sequence similarity 86, member C2, pseudogene																		TCGTATGTGAGTCCTACAGTG	0.463																																						ENST00000528089.1																			0																																																			645332							g.chr11:67560661G>A			11q13.2	2011-07-07			ENSG00000160172	ENSG00000160172			42392	pseudogene	pseudogene							Standard	NR_024249		Approved		uc001omt.4	A6NEL3	OTTHUMG00000167222		11.37:g.67560661G>A														0	1089	-									RNA	SNP	ENST00000528089.1	37																																																																																						0.463	FAM86C2P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393796.1			4	109	0	0	0	1	0	4	109				
ZNF781	163115	broad.mit.edu	37	19	38160892	38160892	+	Missense_Mutation	SNP	C	C	T	rs542777466	byFrequency	TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr19:38160892C>T	ENST00000590008.1	-	5	1010	c.158G>A	c.(157-159)cGa>cAa	p.R53Q	ZNF781_ENST00000358582.4_Missense_Mutation_p.R53Q|ZNF781_ENST00000593040.1_5'Flank|ZFP30_ENST00000586732.1_Intron			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	53					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R53Q(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						AGTGTGAATTCGATTATGTTG	0.383													C|||	3	0.000599042	0.0023	0.0	5008	,	,		21068	0.0		0.0	False		,,,				2504	0.0					ENST00000358582.4																			1	Substitution - Missense(1)	p.R53Q(1)	large_intestine(1)	NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(157-159)cGa>cAa		zinc finger protein 781							163.0	159.0	160.0					19																	38160892		2203	4300	6503	SO:0001583	missense	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160892C>T	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.158G>A	19.37:g.38160892C>T	ENSP00000466370:p.Arg53Gln					ZNF781_ENST00000590008.1_Missense_Mutation_p.R53Q|ZFP30_ENST00000586732.1_Intron	p.R53Q	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN			4	906	-			53					Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	c.158G>A	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692460	0.48202	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.24723	1.84	2.44	-1.92	0.07618	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38453	0.1041	M	0.75777	2.31	0.09310	N	1	D	0.76494	0.999	P	0.57960	0.83	T	0.24977	-1.0145	9	0.72032	D	0.01	.	5.6772	0.17755	0.3064:0.5615:0.0:0.1321	.	53	Q8N8C0	ZN781_HUMAN	Q	53	ENSP00000351391:R53Q	ENSP00000351391:R53Q	R	-	2	0	ZNF781	42852732	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.878000	0.28126	-0.648000	0.05437	-1.687000	0.00730	CGA		0.383	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		72	179	0	0	0	1	0	72	179				
GPR37L1	9283	broad.mit.edu	37	1	202097353	202097353	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr1:202097353C>T	ENST00000367282.5	+	2	1221	c.1115C>T	c.(1114-1116)aCc>aTc	p.T372I		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	372					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GCCTTCTGCACCCTCCCAGAG	0.632																																						ENST00000367282.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						c.(1114-1116)aCc>aTc		G protein-coupled receptor 37 like 1							157.0	140.0	146.0					1																	202097353		2203	4300	6503	SO:0001583	missense	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202097353C>T	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.1115C>T	1.37:g.202097353C>T	ENSP00000356251:p.Thr372Ile						p.T372I	NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN			2	1221	+			372					B2R7M9|Q5SXP7|Q86VP7	Missense_Mutation	SNP	ENST00000367282.5	37	c.1115C>T	CCDS1420.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509296	0.27036	.	.	ENSG00000170075	ENST00000541334;ENST00000367282	T	0.71579	-0.58	5.18	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.322504	0.33591	N	0.004741	T	0.60143	0.2246	L	0.38175	1.15	0.42079	D	0.991249	B	0.15473	0.013	B	0.18871	0.023	T	0.54576	-0.8273	10	0.24483	T	0.36	-13.175	13.4214	0.61001	0.0:0.9242:0.0:0.0758	.	372	O60883	ETBR2_HUMAN	I	239;372	ENSP00000356251:T372I	ENSP00000356251:T372I	T	+	2	0	GPR37L1	200363976	0.052000	0.20516	0.263000	0.24496	0.973000	0.67179	1.075000	0.30716	1.192000	0.43071	0.561000	0.74099	ACC		0.632	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		27	59	0	0	0	1	0	27	59				
VSTM4	196740	broad.mit.edu	37	10	50272780	50272780	+	Splice_Site	SNP	C	C	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr10:50272780C>T	ENST00000332853.4	-	5	659	c.636G>A	c.(634-636)gtG>gtA	p.V212V		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						AATAATGTCTCACTGTGAAAG	0.353																																						ENST00000332853.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						c.e5-1		V-set and transmembrane domain containing 4							97.0	98.0	97.0					10																	50272780		2203	4300	6503	SO:0001630	splice_region_variant	196740					integral to membrane|plasma membrane		g.chr10:50272780C>T	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.635-1G>A	10.37:g.50272780C>T							p.V212_splice	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN			5	659	-			212					B4DNI6|Q96MX7	Splice_Site	SNP	ENST00000332853.4	37	c.634_splice	CCDS31198.1																																																																																				0.353	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984	Silent	22	77	0	0	0	1	0	22	77				
NCOR2	9612	broad.mit.edu	37	12	124856569	124856569	+	Splice_Site	SNP	G	G	A	rs147831485	byFrequency	TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr12:124856569G>A	ENST00000405201.1	-	20	2806	c.2806C>T	c.(2806-2808)Cgg>Tgg	p.R936W	NCOR2_ENST00000397355.1_Splice_Site_p.R919W|NCOR2_ENST00000404621.1_Splice_Site_p.R918W|NCOR2_ENST00000429285.2_Splice_Site_p.R918W|NCOR2_ENST00000356219.3_Splice_Site_p.R936W|NCOR2_ENST00000404121.2_Splice_Site_p.R489W			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	936					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCCACTCACCGGTTCTTGTCG	0.647													G|||	3	0.000599042	0.0023	0.0	5008	,	,		15076	0.0		0.0	False		,,,				2504	0.0					ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.e21+1		nuclear receptor corepressor 2		G	TRP/ARG,TRP/ARG,TRP/ARG	13,4223		0,13,2105	23.0	29.0	27.0		2752,2752,2806	2.5	1.0	12	dbSNP_134	27	0,8440		0,0,4220	yes	missense-near-splice,missense-near-splice,missense-near-splice	NCOR2	NM_001077261.3,NM_001206654.1,NM_006312.5	101,101,101	0,13,6325	AA,AG,GG		0.0,0.3069,0.1026	probably-damaging,probably-damaging,probably-damaging	918/2459,918/2505,936/2515	124856569	13,12663	2118	4220	6338	SO:0001630	splice_region_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124856569G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2807+1C>T	12.37:g.124856569G>A						NCOR2_ENST00000397355.1_Splice_Site_p.R919_splice|NCOR2_ENST00000429285.2_Splice_Site_p.R918_splice|NCOR2_ENST00000404121.2_Splice_Site_p.R489_splice|NCOR2_ENST00000405201.1_Splice_Site_p.R936_splice|NCOR2_ENST00000404621.1_Splice_Site_p.R918_splice	p.R936_splice	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	21	2961	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		936					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Splice_Site	SNP	ENST00000405201.1	37	c.2807_splice	CCDS41858.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.90	2.374388	0.42105	0.003069	0.0	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54	4.92	2.51	0.30379	.	0.130754	0.56097	D	0.000034	T	0.46502	0.1396	M	0.64997	1.995	0.52099	D	0.999947	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.974;0.974;0.984	T	0.33624	-0.9861	10	0.87932	D	0	-36.8314	7.1163	0.25418	0.1357:0.0:0.3056:0.5587	.	918;919;936	C9J0Q5;C9J239;C9JFD3	.;.;.	W	936;918;936;919;935;489;918;936	ENSP00000384018:R936W;ENSP00000384202:R918W;ENSP00000348551:R936W;ENSP00000380513:R919W;ENSP00000385618:R489W;ENSP00000400281:R918W;ENSP00000402808:R936W	ENSP00000348551:R936W	R	-	1	2	NCOR2	123422522	1.000000	0.71417	0.987000	0.45799	0.776000	0.43924	1.651000	0.37302	0.225000	0.20959	-0.397000	0.06425	CGG		0.647	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	Missense_Mutation	12	26	0	0	0	1	0	12	26				
CDKL1	8814	broad.mit.edu	37	14	50808858	50808858	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr14:50808858C>T	ENST00000216378.2	-	5	1093	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	CDKL1_ENST00000395834.1_Missense_Mutation_p.R150Q|CDKL1_ENST00000356146.1_5'UTR	NM_001282236.1	NP_001269165.1	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	149	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					ACTCAAAAGCCGAGCAAATCC	0.328																																						ENST00000216378.2																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12						c.(448-450)cGg>cAg		cyclin-dependent kinase-like 1 (CDC2-related kinase)							114.0	99.0	104.0					14																	50808858		2203	4300	6503	SO:0001583	missense	8814					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr14:50808858C>T	AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000216378.2:c.449G>A	14.37:g.50808858C>T	ENSP00000216378:p.Arg150Gln					CDKL1_ENST00000395834.1_Missense_Mutation_p.R150Q|CDKL1_ENST00000356146.1_5'UTR	p.R150Q			Q00532	CDKL1_HUMAN			5	1093	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		149			Protein kinase.		Q2M3A4|Q6QUA0|Q8WXQ5	Missense_Mutation	SNP	ENST00000216378.2	37	c.449G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.352429	0.95830	.	.	ENSG00000100490	ENST00000395834;ENST00000216378	T;T	0.66815	-0.23;-0.23	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.82834	0.5123	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.983	D	0.84379	0.0548	9	0.66056	D	0.02	.	19.2866	0.94077	0.0:1.0:0.0:0.0	.	821;149	Q00532-2;Q00532	.;CDKL1_HUMAN	Q	150	ENSP00000379176:R150Q;ENSP00000216378:R150Q	ENSP00000216378:R150Q	R	-	2	0	CDKL1	49878608	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.399000	0.79935	2.723000	0.93209	0.655000	0.94253	CGG		0.328	CDKL1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382103.1			4	104	0	0	0	1	0	4	104				
IQGAP3	128239	broad.mit.edu	37	1	156499965	156499965	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr1:156499965G>A	ENST00000361170.2	-	34	4346	c.4336C>T	c.(4336-4338)Cga>Tga	p.R1446*	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1446					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTTCAAGTCGGCGTAGGTTC	0.652																																						ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(4336-4338)Cga>Tga		IQ motif containing GTPase activating protein 3							51.0	43.0	46.0					1																	156499965		2203	4300	6503	SO:0001587	stop_gained	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156499965G>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4336C>T	1.37:g.156499965G>A	ENSP00000354451:p.Arg1446*						p.R1446*	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			34	4346	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1446					Q5T3H8	Nonsense_Mutation	SNP	ENST00000361170.2	37	c.4336C>T	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	42	9.409153	0.99163	.	.	ENSG00000183856	ENST00000361170	.	.	.	4.5	3.57	0.40892	.	0.304130	0.29053	N	0.013289	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-3.6124	10.7297	0.46089	0.0:0.0:0.6546:0.3454	.	.	.	.	X	1446	.	ENSP00000354451:R1446X	R	-	1	2	IQGAP3	154766589	0.056000	0.20664	0.541000	0.28102	0.543000	0.35085	0.752000	0.26362	1.090000	0.41315	0.561000	0.74099	CGA		0.652	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		7	5	0	0	0	1	0	7	5				
OTOGL	283310	broad.mit.edu	37	12	80651657	80651657	+	Silent	SNP	A	A	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr12:80651657A>T	ENST00000547103.1	+	17	1743	c.1737A>T	c.(1735-1737)acA>acT	p.T579T	OTOGL_ENST00000458043.2_Silent_p.T579T			Q3ZCN5	OTOGL_HUMAN	otogelin-like	579	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TAAAAACCACATTTGGTTTAA	0.343																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(1735-1737)acA>acT		otogelin-like							110.0	103.0	105.0					12																	80651657		1824	4075	5899	SO:0001819	synonymous_variant	283310							g.chr12:80651657A>T	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1737A>T	12.37:g.80651657A>T						OTOGL_ENST00000547103.1_Silent_p.T579T	p.T579T	NM_173591.3	NP_775862.3					17	1743	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Silent	SNP	ENST00000547103.1	37	c.1737A>T																																																																																					0.343	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		7	25	0	0	0	1	0	7	25				
MBL1P	8512	broad.mit.edu	37	10	81680769	81680769	+	RNA	SNP	G	G	A			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr10:81680769G>A	ENST00000480805.1	+	0	836					NR_002724.2				mannose-binding lectin (protein A) 1, pseudogene																		GAAACACAGGGACTTCTGGAA	0.592																																						ENST00000480805.1																			0																																																			8512							g.chr10:81680769G>A	AF019382		10q22.3	2012-11-02	2009-12-02	2009-12-02	ENSG00000242600	ENSG00000242600		"""Collectins"""	6921	pseudogene	pseudogene			"""mannose-binding lectin (protein A) 1, pseudogene 1"""	MBL1P1		9501312	Standard	NR_002724		Approved	COLEC3P	uc001kbg.1		OTTHUMG00000018595		10.37:g.81680769G>A								NR_002724.2						0	836	+									RNA	SNP	ENST00000480805.1	37																																																																																						0.592	MBL1P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000049017.1			4	23	0	0	0	1	0	4	23				
ANKRD50	57182	broad.mit.edu	37	4	125592402	125592402	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr4:125592402C>T	ENST00000504087.1	-	4	3067	c.2030G>A	c.(2029-2031)gGt>gAt	p.G677D	ANKRD50_ENST00000515641.1_Missense_Mutation_p.G498D	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	677										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AGCAGTTCTACCTTCATTATC	0.463																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(2029-2031)gGt>gAt		ankyrin repeat domain 50							206.0	173.0	184.0					4																	125592402		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125592402C>T	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.2030G>A	4.37:g.125592402C>T	ENSP00000425658:p.Gly677Asp					ANKRD50_ENST00000515641.1_Missense_Mutation_p.G498D	p.G677D	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	3067	-			677					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.2030G>A	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650083	0.67472	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.73575	-0.76;-0.76	5.52	5.52	0.82312	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.85327	0.5671	M	0.75447	2.3	0.80722	D	1	D	0.63880	0.993	P	0.61477	0.889	D	0.85873	0.1417	10	0.66056	D	0.02	.	19.6361	0.95733	0.0:1.0:0.0:0.0	.	677	Q9ULJ7	ANR50_HUMAN	D	677;498	ENSP00000425658:G677D;ENSP00000425355:G498D	ENSP00000425658:G677D	G	-	2	0	ANKRD50	125811852	1.000000	0.71417	0.972000	0.41901	0.574000	0.36063	7.164000	0.77533	2.878000	0.98634	0.650000	0.86243	GGT		0.463	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		51	81	0	0	0	1	0	51	81				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		555	Substitution - Missense(555)	p.E542K(545)|p.E542Q(10)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1624-1626)Gaa>Aaa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			40	79	0	0	0	1	0	40	79				
CYTH3	9265	broad.mit.edu	37	7	6204942	6204942	+	Silent	SNP	C	C	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr7:6204942C>T	ENST00000350796.3	-	12	1225	c.1089G>A	c.(1087-1089)ccG>ccA	p.P363P	CYTH3_ENST00000396741.2_Silent_p.P278P|CYTH3_ENST00000488964.1_5'Flank	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	364	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						CCTCCGGGCTCGGGGCTGAGA	0.647																																						ENST00000350796.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						c.(1087-1089)ccG>ccA		cytohesin 3							42.0	43.0	42.0					7																	6204942		2203	4300	6503	SO:0001819	synonymous_variant	9265				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr7:6204942C>T	AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.1089G>A	7.37:g.6204942C>T						CYTH3_ENST00000396741.2_Silent_p.P278P	p.P363P	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN			12	1225	-			364			PH.		A4D2N8	Silent	SNP	ENST00000350796.3	37	c.1089G>A	CCDS5346.1																																																																																				0.647	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227		31	34	0	0	0	1	0	31	34				
ADAM2	2515	broad.mit.edu	37	8	39626997	39626997	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr8:39626997G>A	ENST00000265708.4	-	12	1229	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	ADAM2_ENST00000347580.4_Missense_Mutation_p.R357C|ADAM2_ENST00000521880.1_Missense_Mutation_p.R376C|ADAM2_ENST00000379853.2_Missense_Mutation_p.R250C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	376					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GGATCTAAGCGAGGCTGATTG	0.433																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1126-1128)Cgc>Tgc		ADAM metallopeptidase domain 2							154.0	136.0	142.0					8																	39626997		2203	4300	6503	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39626997G>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1126C>T	8.37:g.39626997G>A	ENSP00000265708:p.Arg376Cys					ADAM2_ENST00000379853.2_Missense_Mutation_p.R250C|ADAM2_ENST00000521880.1_Missense_Mutation_p.R376C|ADAM2_ENST00000347580.4_Missense_Mutation_p.R357C	p.R376C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	12	1229	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	376					P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1126C>T	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.134834	0.37728	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02258	4.99;4.37;5.23;5.19	5.11	3.29	0.37713	Metallopeptidase, catalytic domain (1);	.	.	.	.	T	0.08044	0.0201	M	0.81802	2.56	0.09310	N	0.999999	P;D;D;P	0.69078	0.955;0.997;0.973;0.955	P;P;P;P	0.55667	0.608;0.649;0.781;0.608	T	0.18241	-1.0343	8	.	.	.	.	6.5366	0.22357	0.0932:0.0:0.7281:0.1787	.	376;250;357;376	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	C	357;250;376;376	ENSP00000343854:R357C;ENSP00000369182:R250C;ENSP00000265708:R376C;ENSP00000429352:R376C	.	R	-	1	0	ADAM2	39746154	0.001000	0.12720	0.048000	0.18961	0.292000	0.27327	0.361000	0.20267	0.635000	0.30488	0.650000	0.86243	CGC		0.433	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		19	135	0	0	0	1	0	19	135				
AGO1	26523	broad.mit.edu	37	1	36372605	36372605	+	Silent	SNP	C	C	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr1:36372605C>T	ENST00000373204.4	+	12	1680	c.1467C>T	c.(1465-1467)ttC>ttT	p.F489F	AGO1_ENST00000373206.1_Silent_p.F414F	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	489					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										AACCTTGTTTCTGCAAATATG	0.537																																						ENST00000373204.4																			0											c.(1465-1467)ttC>ttT		argonaute RISC catalytic component 1							131.0	110.0	117.0					1																	36372605		2203	4300	6503	SO:0001819	synonymous_variant	26523							g.chr1:36372605C>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1467C>T	1.37:g.36372605C>T						AGO1_ENST00000373206.1_Silent_p.F414F	p.F489F	NM_012199.2	NP_036331.1					12	1680	+								Q5TA57|Q6P4S0	Silent	SNP	ENST00000373204.4	37	c.1467C>T	CCDS398.1																																																																																				0.537	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			45	71	0	0	0	1	0	45	71				
LRRC7	57554	broad.mit.edu	37	1	70505431	70505431	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr1:70505431G>A	ENST00000035383.5	+	19	3840	c.3810G>A	c.(3808-3810)tgG>tgA	p.W1270*	LRRC7_ENST00000310961.5_Nonsense_Mutation_p.W1275*|LRRC7_ENST00000415775.2_Nonsense_Mutation_p.W554*	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1270						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTGCAGACTGGAGACAACAGC	0.448																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(3823-3825)tgG>tgA		leucine rich repeat containing 7							91.0	89.0	90.0					1																	70505431		2203	4300	6503	SO:0001587	stop_gained	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70505431G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3810G>A	1.37:g.70505431G>A	ENSP00000035383:p.Trp1270*					LRRC7_ENST00000415775.2_Nonsense_Mutation_p.W554*|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.W1270*	p.W1275*			Q96NW7	LRRC7_HUMAN			22	4243	+			1270					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Nonsense_Mutation	SNP	ENST00000035383.5	37	c.3825G>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	50	16.368709	0.99861	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.848	0.96722	0.0:0.0:1.0:0.0	.	.	.	.	X	1275;1270;554;1093	.	ENSP00000035383:W1270X	W	+	3	0	LRRC7	70278019	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.328000	0.96403	2.937000	0.99478	0.650000	0.86243	TGG		0.448	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		46	97	0	0	0	1	0	46	97				
ZNF395	55893	broad.mit.edu	37	8	28217203	28217203	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr8:28217203G>T	ENST00000344423.5	-	3	510	c.379C>A	c.(379-381)Ctg>Atg	p.L127M	ZNF395_ENST00000523202.1_Missense_Mutation_p.L127M|ZNF395_ENST00000523095.1_Missense_Mutation_p.L127M	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGGCCCTGCAGCTCTGCCAGC	0.662																																						ENST00000344423.5																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(379-381)Ctg>Atg		zinc finger protein 395							53.0	50.0	51.0					8																	28217203		2203	4300	6503	SO:0001583	missense	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28217203G>T	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.379C>A	8.37:g.28217203G>T	ENSP00000340494:p.Leu127Met					ZNF395_ENST00000523202.1_Missense_Mutation_p.L127M|ZNF395_ENST00000523095.1_Missense_Mutation_p.L127M	p.L127M	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	3	510	-		Ovarian(32;2.06e-05)	127					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	ENST00000344423.5	37	c.379C>A	CCDS6067.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413976	0.25465	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095;ENST00000521912;ENST00000520290	T;T;T	0.45668	0.89;0.89;0.89	5.5	3.67	0.42095	.	0.594534	0.14584	N	0.310660	T	0.25717	0.0626	N	0.08118	0	0.23464	N	0.997626	D	0.54207	0.965	P	0.48141	0.568	T	0.03524	-1.1028	10	0.36615	T	0.2	-2.858	4.3943	0.11355	0.0839:0.1551:0.6006:0.1603	.	127	Q9H8N7	ZN395_HUMAN	M	127	ENSP00000340494:L127M;ENSP00000429640:L127M;ENSP00000428452:L127M	ENSP00000340494:L127M	L	-	1	2	ZNF395	28273122	0.000000	0.05858	0.031000	0.17742	0.321000	0.28281	0.438000	0.21559	0.660000	0.30964	0.555000	0.69702	CTG		0.662	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			15	122	1	0	1.3612e-06	1	1.40245e-06	15	122				
MINOS1	440574	broad.mit.edu	37	1	19923551	19923551	+	Silent	SNP	G	G	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr1:19923551G>T	ENST00000322753.6	+	1	68	c.12G>T	c.(10-12)tcG>tcT	p.S4S	RP5-1056L3.1_ENST00000416470.1_RNA|MINOS1-NBL1_ENST00000602662.1_5'UTR|MINOS1_ENST00000486890.1_3'UTR	NM_001032363.3|NM_001204082.1|NM_001204083.1	NP_001027535.1|NP_001191011.1|NP_001191012.1	Q5TGZ0	MIC10_HUMAN	mitochondrial inner membrane organizing system 1	4						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)											TGTCTGAGTCGGAGCTCGGCA	0.667																																						ENST00000322753.6																			0											c.(10-12)tcG>tcT		mitochondrial inner membrane organizing system 1							55.0	60.0	58.0					1																	19923551		2203	4300	6503	SO:0001819	synonymous_variant	440574					integral to membrane|mitochondrion		g.chr1:19923551G>T	AK094318	CCDS30620.1, CCDS72719.1	1p36.13	2013-10-11	2011-10-04	2011-10-04	ENSG00000173436	ENSG00000173436			32068	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 151"""	C1orf151		21944719	Standard	NM_001032363		Approved	RP5-1056L3.2, FLJ36999, MIO10	uc021ohu.1	Q5TGZ0	OTTHUMG00000002712	ENST00000322753.6:c.12G>T	1.37:g.19923551G>T						MINOS1-NBL1_ENST00000602662.1_5'UTR|MINOS1_ENST00000486890.1_3'UTR	p.S4S	NM_001032363.3|NM_001204082.1|NM_001204083.1	NP_001027535.1|NP_001191011.1|NP_001191012.1	Q5TGZ0	CA151_HUMAN			1	68	+			4					Q96G68	Silent	SNP	ENST00000322753.6	37	c.12G>T	CCDS30620.1																																																																																				0.667	MINOS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007697.2	NM_001032363		25	38	1	0	2.44723e-14	1	2.68406e-14	25	38				
KCNH3	23416	broad.mit.edu	37	12	49948282	49948282	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr12:49948282G>A	ENST00000257981.6	+	11	2341	c.2081G>A	c.(2080-2082)cGt>cAt	p.R694H		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	694					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CGCTTCAGTCGTGGCCTCCGA	0.652																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(2080-2082)cGt>cAt		potassium voltage-gated channel, subfamily H (eag-related), member 3							55.0	53.0	54.0					12																	49948282		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49948282G>A	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2081G>A	12.37:g.49948282G>A	ENSP00000257981:p.Arg694His						p.R694H	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			11	2341	+			694					Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.2081G>A	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061194	0.36373	.	.	ENSG00000135519	ENST00000257981	D	0.96913	-4.17	4.81	3.92	0.45320	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.152220	0.30869	N	0.008719	D	0.89086	0.6615	N	0.08118	0	0.28503	N	0.913891	B	0.12013	0.005	B	0.08055	0.003	T	0.82820	-0.0268	10	0.49607	T	0.09	.	8.027	0.30442	0.1897:0.0:0.8103:0.0	.	694	Q9ULD8	KCNH3_HUMAN	H	694	ENSP00000257981:R694H	ENSP00000257981:R694H	R	+	2	0	KCNH3	48234549	0.000000	0.05858	0.999000	0.59377	0.990000	0.78478	-0.129000	0.10515	1.360000	0.45960	0.563000	0.77884	CGT		0.652	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		30	66	0	0	0	1	0	30	66				
SCN4A	6329	broad.mit.edu	37	17	62019186	62019186	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr17:62019186C>T	ENST00000435607.1	-	24	4532	c.4456G>A	c.(4456-4458)Ggc>Agc	p.G1486S	SCN4A_ENST00000578147.1_Missense_Mutation_p.G1486S	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1486					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGAGGAGGCCGATGTTGAAG	0.582																																						ENST00000435607.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(4456-4458)Ggc>Agc		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						131.0	124.0	127.0					17																	62019186		2203	4300	6503	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62019186C>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4456G>A	17.37:g.62019186C>T	ENSP00000396320:p.Gly1486Ser					SCN4A_ENST00000578147.1_Missense_Mutation_p.G1486S	p.G1486S	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			24	4532	-			1486					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.4456G>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	c	25.1	4.607476	0.87157	.	.	ENSG00000007314	ENST00000435607	D	0.98512	-4.97	3.7	3.7	0.42460	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98356	0.9454	M	0.73598	2.24	0.80722	D	1	D	0.67145	0.996	P	0.59171	0.853	D	0.98352	1.0544	10	0.49607	T	0.09	.	14.9931	0.71406	0.0:1.0:0.0:0.0	.	1486	P35499	SCN4A_HUMAN	S	1486	ENSP00000396320:G1486S	ENSP00000396320:G1486S	G	-	1	0	SCN4A	59372918	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.596000	0.82721	2.071000	0.62044	0.401000	0.26515	GGC		0.582	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		15	44	0	0	0	1	0	15	44				
LAMA3	3909	broad.mit.edu	37	18	21333768	21333768	+	Silent	SNP	T	T	C			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr18:21333768T>C	ENST00000313654.9	+	6	1180	c.939T>C	c.(937-939)ccT>ccC	p.P313P	LAMA3_ENST00000399516.3_Silent_p.P313P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	313	Domain V.|Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TAAACAATCCTGAAAAACTGT	0.368																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(937-939)ccT>ccC		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						110.0	104.0	106.0					18																	21333768		1922	4132	6054	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21333768T>C	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.939T>C	18.37:g.21333768T>C						LAMA3_ENST00000399516.3_Silent_p.P313P	p.P313P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			6	1180	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		313			Domain V.|Laminin EGF-like 1.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.939T>C	CCDS42419.1																																																																																				0.368	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		4	50	0	0	0	1	0	4	50				
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																						ENST00000594520.1																			0																																																			414212							g.chr10:48968566A>G	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G														0	723	+									RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		4	39	0	0	0	1	0	4	39				
DOCK1	1793	broad.mit.edu	37	10	129172386	129172386	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr10:129172386G>A	ENST00000280333.6	+	35	3629	c.3520G>A	c.(3520-3522)Gtt>Att	p.V1174I		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1174					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TGTAAAACTCGTTGTGCGCTT	0.423																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(3520-3522)Gtt>Att		dedicator of cytokinesis 1							80.0	78.0	79.0					10																	129172386		1898	4122	6020	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129172386G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.3520G>A	10.37:g.129172386G>A	ENSP00000280333:p.Val1174Ile						p.V1174I	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	35	3629	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1174			DHR-2.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.3520G>A		.	.	.	.	.	.	.	.	.	.	G	12.44	1.937601	0.34189	.	.	ENSG00000150760	ENST00000280333	T	0.64991	-0.13	5.31	5.31	0.75309	.	0.074871	0.53938	D	0.000053	T	0.53286	0.1787	L	0.39692	1.235	0.80722	D	1	P;P;P	0.46706	0.731;0.883;0.579	B;B;B	0.36845	0.234;0.23;0.088	T	0.57493	-0.7802	10	0.41790	T	0.15	.	18.7713	0.91893	0.0:0.0:1.0:0.0	.	1174;1240;1174	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	I	1174	ENSP00000280333:V1174I	ENSP00000280333:V1174I	V	+	1	0	DOCK1	129062376	1.000000	0.71417	0.119000	0.21687	0.249000	0.25844	5.241000	0.65384	2.768000	0.95171	0.650000	0.86243	GTT		0.423	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		13	26	0	0	0	1	0	13	26				
RNF213	57674	broad.mit.edu	37	17	78341825	78341825	+	Missense_Mutation	SNP	G	G	A	rs397514563		TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr17:78341825G>A	ENST00000582970.1	+	44	12180	c.12037G>A	c.(12037-12039)Gac>Aac	p.D4013N	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.D2086N|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.D4062N	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4013			D -> N (variant detected in cases of Moyamoya disease in Caucasian populations). {ECO:0000269|PubMed:21799892}.		ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCTGCCCTGCGACCACGTGCA	0.562																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(12037-12039)Gac>Aac		ring finger protein 213							149.0	143.0	145.0					17																	78341825		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78341825G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.12037G>A	17.37:g.78341825G>A	ENSP00000464087:p.Asp4013Asn					CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.D4062N|RNF213_ENST00000336301.6_Missense_Mutation_p.D2086N	p.D4013N	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		44	12180	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.12037G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052252	0.55218	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T;T	0.25912	1.77;2.33	4.67	4.67	0.58626	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.413735	0.26503	N	0.024003	T	0.21227	0.0511	L	0.31664	0.95	0.30154	N	0.802756	D;P	0.56287	0.975;0.473	P;B	0.45753	0.492;0.095	T	0.06463	-1.0825	10	0.45353	T	0.12	.	9.8622	0.41120	0.102:0.0:0.898:0.0	.	4062;2086	C9JCP4;Q63HN8	.;RN213_HUMAN	N	4013;4062;2086	ENSP00000425956:D4013N;ENSP00000338218:D2086N	ENSP00000338218:D2086N	D	+	1	0	RNF213	75956420	1.000000	0.71417	0.955000	0.39395	0.690000	0.40134	3.227000	0.51262	2.419000	0.82065	0.655000	0.94253	GAC		0.562	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		38	90	0	0	0	1	0	38	90				
RNF5	6048	broad.mit.edu	37	6	32147865	32147865	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr6:32147865C>T	ENST00000375094.3	+	5	565	c.407C>T	c.(406-408)aCc>aTc	p.T136I	AGPAT1_ENST00000336984.6_5'Flank|AGPAT1_ENST00000490711.1_5'Flank|AGPAT1_ENST00000395497.1_5'Flank|AGPAT1_ENST00000375104.2_5'Flank|RNF5_ENST00000427134.2_Missense_Mutation_p.T136I	NM_006913.3	NP_008844.1	Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	136					cellular protein catabolic process (GO:0044257)|ER-associated misfolded protein catabolic process (GO:0071712)|negative regulation of autophagy (GO:0010507)|protein destabilization (GO:0031648)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of autophagic vacuole assembly (GO:2000785)|response to bacterium (GO:0009617)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T136I(3)		endometrium(1)|lung(7)|urinary_tract(2)	10						TTTTTCACCACCGTCTTCAAT	0.557																																						ENST00000427134.2																			3	Substitution - Missense(3)	p.T136I(3)	lung(3)	endometrium(1)|lung(7)|urinary_tract(2)	10						c.(406-408)aCc>aTc		ring finger protein 5, E3 ubiquitin protein ligase							151.0	153.0	152.0					6																	32147865		1511	2709	4220	SO:0001583	missense	6048				ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:32147865C>T	U89336	CCDS4745.1	6p21.31	2013-01-09	2012-02-23			ENSG00000204308		"""RING-type (C3HC4) zinc fingers"""	10068	protein-coding gene	gene with protein product		602677	"""ring finger protein 5"""			9533025	Standard	NM_006913		Approved	NG2, G16, RING5, RMA1	uc031snv.1	Q99942	OTTHUMG00000031093	ENST00000375094.3:c.407C>T	6.37:g.32147865C>T	ENSP00000364235:p.Thr136Ile					RNF5_ENST00000375094.3_Missense_Mutation_p.T136I	p.T136I			Q99942	RNF5_HUMAN			5	422	+			136					A2BFI6|B2R4K3|Q0VDB7|Q9UMQ2	Missense_Mutation	SNP	ENST00000375094.3	37	c.407C>T	CCDS4745.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403896	0.83230	.	.	ENSG00000204308	ENST00000375094;ENST00000427134	D;D	0.93604	-3.25;-3.25	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.86723	0.6001	L	0.47716	1.5	0.58432	D	0.999999	B	0.33345	0.409	B	0.27715	0.082	D	0.86266	0.1658	10	0.37606	T	0.19	-2.0092	16.9524	0.86249	0.0:1.0:0.0:0.0	.	136	Q99942	RNF5_HUMAN	I	136	ENSP00000364235:T136I;ENSP00000407656:T136I	ENSP00000364235:T136I	T	+	2	0	RNF5	32255843	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.897000	0.75671	2.666000	0.90696	0.655000	0.94253	ACC		0.557	RNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076133.2	NM_006913		6	122	0	0	0	1	0	6	122				
PLCB1	23236	broad.mit.edu	37	20	8741071	8741071	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr20:8741071G>A	ENST00000338037.6	+	25	2701	c.2674G>A	c.(2674-2676)Gcc>Acc	p.A892T	PLCB1_ENST00000378641.3_Missense_Mutation_p.A892T|PLCB1_ENST00000378637.2_Missense_Mutation_p.A892T|PLCB1_ENST00000494924.1_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	892					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAAGGCACCTGCCAAAACAGA	0.358																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(2674-2676)Gcc>Acc		phospholipase C, beta 1 (phosphoinositide-specific)							52.0	51.0	51.0					20																	8741071		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8741071G>A	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2674G>A	20.37:g.8741071G>A	ENSP00000338185:p.Ala892Thr					PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.A892T|PLCB1_ENST00000338037.6_Missense_Mutation_p.A892T	p.A892T	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			25	3149	+			892					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.2674G>A	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630800	0.67015	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.18810	2.2;2.19;2.2	6.07	5.12	0.69794	.	0.242928	0.41500	D	0.000865	T	0.23766	0.0575	L	0.47716	1.5	0.43913	D	0.996557	P;P	0.37061	0.544;0.58	B;B	0.38755	0.162;0.281	T	0.01600	-1.1315	10	0.28530	T	0.3	.	17.4012	0.87460	0.0:0.1247:0.8753:0.0	.	892;892	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	T	892;892;892;812;812	ENSP00000367908:A892T;ENSP00000338185:A892T;ENSP00000367904:A892T	ENSP00000338185:A892T	A	+	1	0	PLCB1	8689071	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.960000	0.93117	1.556000	0.49512	0.655000	0.94253	GCC		0.358	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			5	235	0	0	0	1	0	5	235				
SRGAP1	57522	broad.mit.edu	37	12	64505656	64505656	+	Silent	SNP	T	T	C			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr12:64505656T>C	ENST00000355086.3	+	17	2558	c.2034T>C	c.(2032-2034)caT>caC	p.H678H	RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Silent_p.H655H|SRGAP1_ENST00000543397.1_Silent_p.H615H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	678	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GCCAGGCACATGTGAATGAAA	0.443																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(2032-2034)caT>caC		SLIT-ROBO Rho GTPase activating protein 1							164.0	143.0	150.0					12																	64505656		2203	4300	6503	SO:0001819	synonymous_variant	57522				axon guidance	cytosol		g.chr12:64505656T>C	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.2034T>C	12.37:g.64505656T>C						RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Silent_p.H655H|SRGAP1_ENST00000543397.1_Silent_p.H615H	p.H678H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	17	2558	+			678			Rho-GAP.		Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	c.2034T>C	CCDS8967.1																																																																																				0.443	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			8	139	0	0	0	1	0	8	139				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - coding silent(2)	p.V49V(2)	lung(1)|kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(145-147)gtG>gtC		major histocompatibility complex, class I, A																																				SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910607G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.147G>C	6.37:g.29910607G>C		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V	p.V49V			P30443	1A01_HUMAN			4	488	+			49			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.147G>C	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		4	40	0	0	0	1	0	4	40				
EPM2AIP1	9852	broad.mit.edu	37	3	37034286	37034286	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr3:37034286C>T	ENST00000322716.5	-	1	509	c.283G>A	c.(283-285)Gag>Aag	p.E95K	MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000455445.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	95					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						GCAGCTCTCTCTTCAGGAGTG	0.652																																						ENST00000322716.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						c.(283-285)Gag>Aag		EPM2A (laforin) interacting protein 1							53.0	58.0	57.0					3																	37034286		1953	4161	6114	SO:0001583	missense	9852					endoplasmic reticulum		g.chr3:37034286C>T	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.283G>A	3.37:g.37034286C>T	ENSP00000406027:p.Glu95Lys						p.E95K	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN			1	509	-			95					O94866|Q9H3L3	Missense_Mutation	SNP	ENST00000322716.5	37	c.283G>A	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507604	0.44558	.	.	ENSG00000178567	ENST00000322716	T	0.15017	2.46	5.26	3.43	0.39272	.	.	.	.	.	T	0.16599	0.0399	L	0.36672	1.1	0.30872	N	0.732396	B	0.27416	0.178	B	0.36808	0.233	T	0.19745	-1.0296	9	0.16420	T	0.52	-0.9524	11.9091	0.52729	0.0:0.6616:0.3384:0.0	.	95	Q7L775	EPMIP_HUMAN	K	95	ENSP00000406027:E95K	ENSP00000406027:E95K	E	-	1	0	EPM2AIP1	37009290	1.000000	0.71417	0.996000	0.52242	0.795000	0.44927	2.322000	0.43814	0.756000	0.33013	0.563000	0.77884	GAG		0.652	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		40	74	0	0	0	1	0	40	74				
SFMBT2	57713	broad.mit.edu	37	10	7214537	7214537	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr10:7214537G>A	ENST00000361972.4	-	18	2161	c.2071C>T	c.(2071-2073)Cgg>Tgg	p.R691W	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R691W	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	691					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.R691W(2)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CGCTTCCTCCGCCTGGCGGGT	0.587																																						ENST00000361972.4																			2	Substitution - Missense(2)	p.R691W(2)	central_nervous_system(1)|pancreas(1)	NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(2071-2073)Cgg>Tgg		Scm-like with four mbt domains 2							45.0	51.0	49.0					10																	7214537		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7214537G>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2071C>T	10.37:g.7214537G>A	ENSP00000355109:p.Arg691Trp					SFMBT2_ENST00000397167.1_Missense_Mutation_p.R691W	p.R691W	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			18	2161	-			691					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.2071C>T	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128638	0.77549	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.20738	2.05;2.05	5.37	4.42	0.53409	.	0.117031	0.64402	D	0.000014	T	0.45094	0.1325	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.45644	-0.9247	10	0.72032	D	0.01	.	13.7566	0.62940	0.0:0.0:0.816:0.184	.	691	Q5VUG0	SMBT2_HUMAN	W	691	ENSP00000355109:R691W;ENSP00000380353:R691W	ENSP00000355109:R691W	R	-	1	2	SFMBT2	7254543	1.000000	0.71417	0.065000	0.19835	0.664000	0.39144	5.692000	0.68256	1.152000	0.42452	0.484000	0.47621	CGG		0.587	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		9	22	0	0	0	1	0	9	22				
BTN2A1	11120	broad.mit.edu	37	6	26458872	26458872	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr6:26458872C>T	ENST00000312541.5	+	2	256	c.8C>T	c.(7-9)tCa>tTa	p.S3L	BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000469185.1_Missense_Mutation_p.S3L|BTN2A1_ENST00000429381.1_Missense_Mutation_p.S3L	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	3					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CTCATGGAATCAGCTGCTGCC	0.622																																						ENST00000429381.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						c.(7-9)tCa>tTa		butyrophilin, subfamily 2, member A1							232.0	171.0	191.0					6																	26458872		2203	4300	6503	SO:0001583	missense	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26458872C>T	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.8C>T	6.37:g.26458872C>T	ENSP00000312158:p.Ser3Leu					BTN2A1_ENST00000469185.1_Missense_Mutation_p.S3L|BTN2A1_ENST00000312541.5_Missense_Mutation_p.S3L|BTN2A1_ENST00000541522.1_Intron	p.S3L			Q7KYR7	BT2A1_HUMAN			2	220	+			3					B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	c.8C>T	CCDS4613.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510906	0.27036	.	.	ENSG00000112763	ENST00000312541;ENST00000429381;ENST00000265424;ENST00000469185	T;T;T	0.77098	-0.48;-1.07;-1.06	3.03	0.102	0.14522	.	0.876207	0.09516	N	0.791659	T	0.41581	0.1165	L	0.27053	0.805	0.09310	N	0.999998	B;B	0.12013	0.005;0.005	B;B	0.11329	0.004;0.006	T	0.31806	-0.9930	10	0.44086	T	0.13	.	5.0586	0.14546	0.0:0.4487:0.4235:0.1277	.	3;3	Q96AV7;Q7KYR7	.;BT2A1_HUMAN	L	3	ENSP00000312158:S3L;ENSP00000416945:S3L;ENSP00000419043:S3L	ENSP00000265424:S3L	S	+	2	0	BTN2A1	26566851	0.020000	0.18652	0.003000	0.11579	0.023000	0.10783	0.059000	0.14322	-0.006000	0.14370	0.484000	0.47621	TCA		0.622	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		4	74	0	0	0	1	0	4	74				
MROH2B	133558	broad.mit.edu	37	5	41019010	41019010	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr5:41019010G>A	ENST00000399564.4	-	25	3002	c.2552C>T	c.(2551-2553)aCa>aTa	p.T851I	MROH2B_ENST00000506092.2_Missense_Mutation_p.T406I	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	851																	GTCCTTGTCTGTCTGGCCTTC	0.507																																						ENST00000399564.4																			0											c.(2551-2553)aCa>aTa		maestro heat-like repeat family member 2B							112.0	109.0	110.0					5																	41019010		2025	4184	6209	SO:0001583	missense	133558							g.chr5:41019010G>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2552C>T	5.37:g.41019010G>A	ENSP00000382476:p.Thr851Ile					MROH2B_ENST00000506092.2_Missense_Mutation_p.T406I	p.T851I	NM_173489.4	NP_775760.3					25	3002	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2552C>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904141	0.72754	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.68903	-0.15;-0.36	6.02	6.02	0.97574	Armadillo-type fold (1);	0.102724	0.44285	D	0.000472	T	0.65688	0.2715	N	0.08118	0	0.35249	D	0.77852	D	0.76494	0.999	D	0.68192	0.956	T	0.72760	-0.4196	10	0.37606	T	0.19	.	16.0408	0.80680	0.0:0.0:1.0:0.0	.	851	Q7Z745	HTRB2_HUMAN	I	406;556;851	ENSP00000441504:T406I;ENSP00000382476:T851I	ENSP00000296803:T556I	T	-	2	0	HEATR7B2	41054767	0.993000	0.37304	0.682000	0.30024	0.922000	0.55478	3.243000	0.51392	2.865000	0.98341	0.655000	0.94253	ACA		0.507	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		33	25	0	0	0	1	0	33	25				
TBX2	6909	broad.mit.edu	37	17	59482066	59482066	+	Silent	SNP	C	C	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr17:59482066C>T	ENST00000240328.3	+	5	1268	c.987C>T	c.(985-987)ccC>ccT	p.P329P	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	329					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						ACCCTCCCCCCGCGCGGGAAC	0.726																																					GBM(3;187 253 11467 14965 23079)	ENST00000240328.3																			0				endometrium(1)|lung(7)|ovary(1)	9						c.(985-987)ccC>ccT		T-box 2							10.0	11.0	11.0					17																	59482066		2174	4262	6436	SO:0001819	synonymous_variant	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59482066C>T	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.987C>T	17.37:g.59482066C>T						RP11-332H18.4_ENST00000592009.1_RNA	p.P329P	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN			5	1268	+			329					Q16424|Q7Z647	Silent	SNP	ENST00000240328.3	37	c.987C>T	CCDS11627.2																																																																																				0.726	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	NM_005994		6	6	0	0	0	1	0	6	6				
UMODL1	89766	broad.mit.edu	37	21	43531784	43531784	+	Missense_Mutation	SNP	A	A	C			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr21:43531784A>C	ENST00000408910.2	+	12	2068	c.2068A>C	c.(2068-2070)Acc>Ccc	p.T690P	UMODL1_ENST00000400424.2_Missense_Mutation_p.T618P|UMODL1_ENST00000408989.2_Missense_Mutation_p.T818P|UMODL1_ENST00000400427.1_Missense_Mutation_p.T746P	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	690					adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCTGCCATTGACCTCCACCCT	0.582																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(2236-2238)Acc>Ccc		uromodulin-like 1							38.0	49.0	45.0					21																	43531784		2044	4185	6229	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43531784A>C		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.2068A>C	21.37:g.43531784A>C	ENSP00000386147:p.Thr690Pro					UMODL1_ENST00000400424.1_Missense_Mutation_p.T618P|UMODL1_ENST00000408989.2_Missense_Mutation_p.T818P|UMODL1_ENST00000408910.2_Missense_Mutation_p.T690P	p.T746P	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			11	2632	+			734			Fibronectin type-III 2.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.2236A>C	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	A	9.147	1.015413	0.19355	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.73152	-0.64;-0.71;-0.64;-0.72	3.76	-2.75	0.05914	.	1.150510	0.06574	N	0.749074	T	0.59569	0.2203	N	0.24115	0.695	0.09310	N	1	B;B	0.31351	0.32;0.003	B;B	0.38056	0.264;0.003	T	0.56571	-0.7957	10	0.59425	D	0.04	-11.5978	9.7453	0.40442	0.5727:0.0:0.4273:0.0	.	818;690	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	P	746;618;818;690	ENSP00000383279:T746P;ENSP00000383276:T618P;ENSP00000386126:T818P;ENSP00000386147:T690P	ENSP00000383276:T618P	T	+	1	0	UMODL1	42404853	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.155000	0.16362	-0.653000	0.05401	-0.366000	0.07423	ACC		0.582	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			6	39	0	0	0	1	0	6	39				
PREX1	57580	broad.mit.edu	37	20	47251276	47251276	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr20:47251276G>A	ENST00000371941.3	-	33	4227	c.4205C>T	c.(4204-4206)aCg>aTg	p.T1402M	PREX1_ENST00000396220.1_Missense_Mutation_p.T1402M	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1402					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTCTGACAGCGTCACCCAGAT	0.562																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(4204-4206)aCg>aTg		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							142.0	102.0	115.0					20																	47251276		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47251276G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4205C>T	20.37:g.47251276G>A	ENSP00000361009:p.Thr1402Met					PREX1_ENST00000371941.3_Missense_Mutation_p.T1402M	p.T1402M			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		33	4227	-			1402					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.4205C>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812223	0.70797	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.52526	0.66;0.66	5.22	5.22	0.72569	.	0.000000	0.56097	U	0.000030	T	0.36110	0.0955	N	0.22421	0.69	0.49051	D	0.999742	B;P	0.37500	0.152;0.597	B;B	0.32022	0.026;0.139	T	0.35500	-0.9786	10	0.59425	D	0.04	.	18.7876	0.91961	0.0:0.0:1.0:0.0	.	1402;699	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	M	1402	ENSP00000361009:T1402M;ENSP00000379522:T1402M	ENSP00000361009:T1402M	T	-	2	0	PREX1	46684683	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.409000	0.97331	2.419000	0.82065	0.561000	0.74099	ACG		0.562	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		40	66	0	0	0	1	0	40	66				
FOXF1	2294	broad.mit.edu	37	16	86544260	86544260	+	Missense_Mutation	SNP	G	G	A	rs373503439		TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr16:86544260G>A	ENST00000262426.4	+	1	128	c.85G>A	c.(85-87)Gcg>Acg	p.A29T	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	29					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CATGGACCCCGCGTCGTCCGG	0.736																																						ENST00000262426.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(85-87)Gcg>Acg		forkhead box F1							8.0	9.0	9.0					16																	86544260		2169	4255	6424	SO:0001583	missense	2294				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr16:86544260G>A	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"""Forkhead boxes"""	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.85G>A	16.37:g.86544260G>A	ENSP00000262426:p.Ala29Thr						p.A29T	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN			1	128	+			29					B2RAF4|Q5FWE5	Missense_Mutation	SNP	ENST00000262426.4	37	c.85G>A	CCDS10957.2	.	.	.	.	.	.	.	.	.	.	G	4.194	0.034689	0.08101	.	.	ENSG00000103241	ENST00000262426	D	0.96104	-3.91	3.27	2.28	0.28536	.	.	.	.	.	D	0.86351	0.5912	N	0.08118	0	0.45676	D	0.998591	B	0.18166	0.026	B	0.08055	0.003	T	0.77169	-0.2686	9	0.10902	T	0.67	.	10.2038	0.43101	0.0:0.2056:0.7944:0.0	.	29	Q12946	FOXF1_HUMAN	T	29	ENSP00000262426:A29T	ENSP00000262426:A29T	A	+	1	0	FOXF1	85101761	0.993000	0.37304	0.999000	0.59377	0.039000	0.13416	2.680000	0.46918	0.692000	0.31613	-0.502000	0.04539	GCG		0.736	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451		11	13	0	0	0	1	0	11	13				
TGM2	7052	broad.mit.edu	37	20	36775191	36775191	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr20:36775191G>A	ENST00000361475.2	-	6	960	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	TGM2_ENST00000536724.1_Missense_Mutation_p.R203C|TGM2_ENST00000536701.1_Missense_Mutation_p.R182C	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	263					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TTCTTCCAGCGCCGCAGGATG	0.652																																						ENST00000361475.2																			0				endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(787-789)Cgc>Tgc		transglutaminase 2	L-Glutamine(DB00130)						46.0	37.0	40.0					20																	36775191		2203	4299	6502	SO:0001583	missense	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36775191G>A	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.787C>T	20.37:g.36775191G>A	ENSP00000355330:p.Arg263Cys					TGM2_ENST00000536724.1_Missense_Mutation_p.R203C|TGM2_ENST00000536701.1_Missense_Mutation_p.R182C	p.R263C	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN			6	960	-		Myeloproliferative disorder(115;0.00878)	263					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	c.787C>T	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165288	0.78339	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724;ENST00000373403	D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52	5.56	4.55	0.56014	.	0.400855	0.27720	N	0.018132	D	0.92886	0.7737	M	0.65498	2.005	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.72075	0.948;0.976;0.943;0.948;0.969;0.976	D	0.93125	0.6528	10	0.87932	D	0	-5.8777	12.9079	0.58162	0.0:0.0:0.7768:0.2231	.	203;182;263;263;203;263	F5H6P0;B4DIT7;P21980-3;P21980-2;B4DTN7;P21980	.;.;.;.;.;TGM2_HUMAN	C	263;182;203;263	ENSP00000355330:R263C;ENSP00000444701:R182C;ENSP00000437479:R203C;ENSP00000362502:R263C	ENSP00000355330:R263C	R	-	1	0	TGM2	36208605	0.898000	0.30612	1.000000	0.80357	0.981000	0.71138	1.581000	0.36558	2.607000	0.88179	0.563000	0.77884	CGC		0.652	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		12	67	0	0	0	1	0	12	67				
NAA15	80155	broad.mit.edu	37	4	140291481	140291481	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr4:140291481C>T	ENST00000296543.5	+	15	2193	c.1870C>T	c.(1870-1872)Cag>Tag	p.Q624*	NAA15_ENST00000398947.1_Nonsense_Mutation_p.Q624*	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	624	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						gcagagaaatcagaaaaagaa	0.358																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1870-1872)Cag>Tag		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							74.0	72.0	73.0					4																	140291481		1845	4088	5933	SO:0001587	stop_gained	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140291481C>T	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1870C>T	4.37:g.140291481C>T	ENSP00000296543:p.Gln624*					NAA15_ENST00000398947.1_Nonsense_Mutation_p.Q624*	p.Q624*	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			15	2193	+			624					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Nonsense_Mutation	SNP	ENST00000296543.5	37	c.1870C>T	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	C	42	9.249446	0.99113	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	.	.	.	5.92	5.92	0.95590	.	0.365247	0.27759	N	0.017974	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2249	19.9374	0.97146	0.0:1.0:0.0:0.0	.	.	.	.	X	624;498;624	.	ENSP00000296543:Q624X	Q	+	1	0	NAA15	140510931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.336000	0.79245	2.794000	0.96219	0.650000	0.86243	CAG		0.358	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		21	32	0	0	0	1	0	21	32				
CAPN1	823	broad.mit.edu	37	11	64978326	64978326	+	Missense_Mutation	SNP	A	A	G			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr11:64978326A>G	ENST00000527323.1	+	20	2341	c.2101A>G	c.(2101-2103)Acc>Gcc	p.T701A	CAPN1_ENST00000533129.1_Missense_Mutation_p.T701A|CAPN1_ENST00000533820.1_Missense_Mutation_p.T701A|CAPN1_ENST00000279247.6_Missense_Mutation_p.T701A|SLC22A20_ENST00000525437.1_RNA|CAPN1_ENST00000524773.1_Missense_Mutation_p.T701A			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	701	Domain IV.|EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TGGAGTTGTGACCTTTGACTT	0.483																																						ENST00000527323.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(2101-2103)Acc>Gcc		calpain 1, (mu/I) large subunit							136.0	137.0	137.0					11																	64978326		1874	4095	5969	SO:0001583	missense	823				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding	g.chr11:64978326A>G	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.2101A>G	11.37:g.64978326A>G	ENSP00000431984:p.Thr701Ala					CAPN1_ENST00000533129.1_Missense_Mutation_p.T701A|CAPN1_ENST00000533820.1_Missense_Mutation_p.T701A|CAPN1_ENST00000524773.1_Missense_Mutation_p.T701A|CAPN1_ENST00000279247.6_Missense_Mutation_p.T701A	p.T701A			P07384	CAN1_HUMAN		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	20	2341	+		Lung NSC(402;0.094)|Melanoma(852;0.16)	701			Domain IV.|EF-hand 4.		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	ENST00000527323.1	37	c.2101A>G	CCDS44644.1	.	.	.	.	.	.	.	.	.	.	A	11.16	1.557993	0.27827	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	4.53	3.4	0.38934	.	0.632795	0.16330	N	0.219151	T	0.22085	0.0532	L	0.45352	1.415	0.25366	N	0.988748	B	0.19073	0.033	B	0.21360	0.034	T	0.08973	-1.0696	10	0.30854	T	0.27	.	4.3309	0.11062	0.6889:0.2062:0.1049:0.0	.	701	P07384	CAN1_HUMAN	A	701;701;701;701;647;701	ENSP00000435272:T701A;ENSP00000431686:T701A;ENSP00000434176:T701A;ENSP00000279247:T701A;ENSP00000431984:T701A	ENSP00000259755:T647A	T	+	1	0	CAPN1	64734902	0.553000	0.26513	1.000000	0.80357	0.968000	0.65278	1.056000	0.30480	1.830000	0.53286	0.460000	0.39030	ACC		0.483	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			24	51	0	0	0	1	0	24	51				
RGS20	8601	broad.mit.edu	37	8	54859258	54859258	+	Silent	SNP	C	C	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr8:54859258C>T	ENST00000297313.3	+	4	785	c.693C>T	c.(691-693)ccC>ccT	p.P231P	RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000276500.4_Silent_p.P84P|RGS20_ENST00000522225.1_5'UTR|RGS20_ENST00000344277.6_Silent_p.P116P	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	231					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			ATCAGAGGCCCACAATAGCTT	0.403																																						ENST00000297313.3																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(691-693)ccC>ccT		regulator of G-protein signaling 20							95.0	87.0	90.0					8																	54859258		2203	4300	6503	SO:0001819	synonymous_variant	8601				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr8:54859258C>T	AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.693C>T	8.37:g.54859258C>T						RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000522225.1_5'UTR|RGS20_ENST00000276500.4_Silent_p.P84P|RGS20_ENST00000344277.6_Silent_p.P116P	p.P231P	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)		4	785	+			231					Q96BG9	Silent	SNP	ENST00000297313.3	37	c.693C>T	CCDS6155.1																																																																																				0.403	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			29	163	0	0	0	1	0	29	163				
TRGV5	6978	broad.mit.edu	37	7	38388960	38388960	+	RNA	SNP	T	T	C			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr7:38388960T>C	ENST00000390344.2	-	0	547									T cell receptor gamma variable 5																		ACTGTGCCTGTCCCAGGTGGC	0.478																																						ENST00000390344.2																			0																				39.0	36.0	37.0					7																	38388960		1777	3864	5641			6978							g.chr7:38388960T>C	M36286		7p14	2012-02-07				ENSG00000211697		"""T cell receptors / TRG locus"""	12290	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V5"""			TCRGV5		2902186, 2969332	Standard	NG_001336		Approved	V1S5			OTTHUMG00000155101		7.37:g.38388960T>C														0	547	-									RNA	SNP	ENST00000390344.2	37																																																																																						0.478	TRGV5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338407.4	NG_001336		4	74	0	0	0	1	0	4	74				
RBL1	5933	broad.mit.edu	37	20	35635822	35635822	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr20:35635822C>T	ENST00000373664.3	-	20	2929	c.2863G>A	c.(2863-2865)Gac>Aac	p.D955N	RBL1_ENST00000344359.3_Missense_Mutation_p.D955N	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	955					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				ACCATATGGTCCTGATTCGCC	0.303																																						ENST00000373664.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(2863-2865)Gac>Aac		retinoblastoma-like 1 (p107)							127.0	123.0	124.0					20																	35635822		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35635822C>T	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.2863G>A	20.37:g.35635822C>T	ENSP00000362768:p.Asp955Asn					RBL1_ENST00000344359.3_Missense_Mutation_p.D955N	p.D955N	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			20	2929	-		Myeloproliferative disorder(115;0.00878)	955					A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.2863G>A	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998186	0.54147	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.93019	-2.94;-3.15	5.29	5.29	0.74685	Cyclin-like (2);	0.152228	0.44483	D	0.000451	D	0.94311	0.8172	M	0.63428	1.95	0.58432	D	0.999999	P;B	0.50369	0.934;0.016	P;B	0.52646	0.705;0.091	D	0.92032	0.5634	10	0.20046	T	0.44	-4.847	19.1061	0.93296	0.0:1.0:0.0:0.0	.	955;955	P28749-2;P28749	.;RBL1_HUMAN	N	955	ENSP00000362768:D955N;ENSP00000343646:D955N	ENSP00000343646:D955N	D	-	1	0	RBL1	35069236	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.261000	0.72509	2.752000	0.94435	0.585000	0.79938	GAC		0.303	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		33	142	0	0	0	1	0	33	142				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	81	1	0	0.00024832	1	0.000250779	4	81				
SLC1A7	6512	broad.mit.edu	37	1	53600102	53600102	+	Splice_Site	SNP	C	C	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr1:53600102C>T	ENST00000371494.4	-	2	263		c.e2-1		SLC1A7_ENST00000371491.4_Splice_Site	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7						dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		AACTAATTTCCTGAAAACACA	0.502																																					NSCLC(128;80 1811 21245 38490 51715)	ENST00000371494.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.e2-1		solute carrier family 1 (glutamate transporter), member 7	L-Glutamic Acid(DB00142)						60.0	56.0	58.0					1																	53600102		2203	4300	6503	SO:0001630	splice_region_variant	6512					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr1:53600102C>T	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.136-1G>A	1.37:g.53600102C>T						SLC1A7_ENST00000371491.4_Splice_Site		NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN		Colorectal(1306;0.234)	2	263	-								Q5VVZ0|Q969Z8|Q9BW45	Splice_Site	SNP	ENST00000371494.4	37		CCDS574.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621256	0.66787	.	.	ENSG00000162383	ENST00000371494;ENST00000371491	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4267	0.90611	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC1A7	53372690	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	6.985000	0.76193	2.431000	0.82371	0.561000	0.74099	.		0.502	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671	Intron	8	23	0	0	0	1	0	8	23				
SETD7	80854	broad.mit.edu	37	4	140441448	140441448	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr4:140441448G>A	ENST00000274031.3	-	6	1381	c.745C>T	c.(745-747)Cga>Tga	p.R249*	SETD7_ENST00000506866.2_Nonsense_Mutation_p.R249*	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	249	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|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)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					TGTGTAATTCGAACTCCATTA	0.398																																						ENST00000274031.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(745-747)Cga>Tga		SET domain containing (lysine methyltransferase) 7							107.0	107.0	107.0					4																	140441448		2203	4300	6503	SO:0001587	stop_gained	80854				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding	g.chr4:140441448G>A	AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"""Chromatin-modifying enzymes / K-methyltransferases"""	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.745C>T	4.37:g.140441448G>A	ENSP00000274031:p.Arg249*					SETD7_ENST00000506866.2_Nonsense_Mutation_p.R249*	p.R249*	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN			6	1381	-	all_hematologic(180;0.156)		249			SET.		B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Nonsense_Mutation	SNP	ENST00000274031.3	37	c.745C>T	CCDS3748.1	.	.	.	.	.	.	.	.	.	.	G	39	7.405677	0.98265	.	.	ENSG00000145391	ENST00000506866;ENST00000274031	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4815	15.6629	0.77203	0.0:0.0:0.8625:0.1375	.	.	.	.	X	249	.	ENSP00000274031:R249X	R	-	1	2	SETD7	140660898	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.083000	0.76859	2.571000	0.86741	0.650000	0.86243	CGA		0.398	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257236.1	NM_030648		4	92	0	0	0	1	0	4	92				
DUSP14	11072	broad.mit.edu	37	17	35872745	35872745	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr17:35872745C>T	ENST00000487847.1	+	2	1349	c.371C>T	c.(370-372)gCg>gTg	p.A124V	DUSP14_ENST00000394389.4_Missense_Mutation_p.A124V|DUSP14_ENST00000394386.1_Missense_Mutation_p.A124V			O95147	DUS14_HUMAN	dual specificity phosphatase 14	124	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)		MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|poly(A) RNA binding (GO:0044822)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				CTGTGTATCGCGTACCTGATG	0.602																																						ENST00000487847.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9						c.(370-372)gCg>gTg		dual specificity phosphatase 14							71.0	56.0	61.0					17																	35872745		2203	4300	6503	SO:0001583	missense	11072						MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr17:35872745C>T	AF038844	CCDS11320.1	17q12	2014-05-06			ENSG00000161326	ENSG00000276023		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	17007	protein-coding gene	gene with protein product	"""MKP-1 like protein tyrosine phosphatase"""	606618				11123293	Standard	XM_005256977		Approved	MKP-L, MKP6	uc002hnx.2	O95147	OTTHUMG00000188472	ENST00000487847.1:c.371C>T	17.37:g.35872745C>T	ENSP00000466299:p.Ala124Val					DUSP14_ENST00000394386.1_Missense_Mutation_p.A124V|DUSP14_ENST00000394389.4_Missense_Mutation_p.A124V	p.A124V			O95147	DUS14_HUMAN			2	1349	+		Breast(25;0.00637)|Ovarian(249;0.15)	124			Tyrosine-protein phosphatase.			Missense_Mutation	SNP	ENST00000487847.1	37	c.371C>T	CCDS11320.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438085	0.62955	.	.	ENSG00000161326	ENST00000394389;ENST00000394386	T;T	0.66815	-0.23;-0.23	6.16	6.16	0.99307	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.85261	0.5656	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.84716	0.0737	10	0.51188	T	0.08	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	124	O95147	DUS14_HUMAN	V	124	ENSP00000377912:A124V;ENSP00000377910:A124V	ENSP00000377910:A124V	A	+	2	0	DUSP14	32946858	1.000000	0.71417	0.838000	0.33150	0.077000	0.17291	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GCG		0.602	DUSP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256680.3	NM_007026		22	27	0	0	0	1	0	22	27				
OR52N4	390072	broad.mit.edu	37	11	5776794	5776794	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr11:5776794G>T	ENST00000317254.3	+	1	872	c.824G>T	c.(823-825)tGc>tTc	p.C275F	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CCCCCTTCTTGCCACATCATT	0.458																																						ENST00000317254.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(823-825)tGc>tTc		olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)							152.0	143.0	146.0					11																	5776794		1924	4157	6081	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776794G>T	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.824G>T	11.37:g.5776794G>T	ENSP00000323224:p.Cys275Phe					TRIM5_ENST00000380027.1_Intron	p.C275F	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	872	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	275					B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.824G>T	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383407	0.25031	.	.	ENSG00000181074	ENST00000317254	T	0.00091	8.74	5.65	4.66	0.58398	GPCR, rhodopsin-like superfamily (1);	0.380726	0.19291	N	0.117884	T	0.00073	0.0002	N	0.01668	-0.77	0.26932	N	0.966448	B	0.06786	0.001	B	0.12837	0.008	T	0.48843	-0.8999	10	0.49607	T	0.09	.	13.0113	0.58733	0.0:0.0:0.7551:0.2449	.	275	Q8NGI2	O52N4_HUMAN	F	275	ENSP00000323224:C275F	ENSP00000323224:C275F	C	+	2	0	OR52N4	5733370	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	3.654000	0.54453	2.683000	0.91414	0.644000	0.83932	TGC		0.458	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		31	93	1	0	2.70662e-09	1	2.84614e-09	31	93				
PDLIM2	64236	broad.mit.edu	37	8	22449070	22449070	+	Missense_Mutation	SNP	C	C	T	rs368145484		TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr8:22449070C>T	ENST00000397760.4	+	9	1170	c.770C>T	c.(769-771)aCg>aTg	p.T257M	PDLIM2_ENST00000409141.1_Intron|AC037459.4_ENST00000430850.2_Missense_Mutation_p.T51M|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000339162.7_Intron|PDLIM2_ENST00000308354.7_Missense_Mutation_p.T507M|PDLIM2_ENST00000265810.4_Missense_Mutation_p.T257M|PDLIM2_ENST00000409417.1_Missense_Mutation_p.T257M|PDLIM2_ENST00000397761.2_Missense_Mutation_p.T257M			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	257						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		CCAGGTGGCACGCCAGCCTTC	0.632																																						ENST00000265810.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9						c.(769-771)aCg>aTg		PDZ and LIM domain 2 (mystique)							37.0	32.0	33.0					8																	22449070		2203	4300	6503	SO:0001583	missense	64236					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding	g.chr8:22449070C>T	AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.770C>T	8.37:g.22449070C>T	ENSP00000380867:p.Thr257Met					PDLIM2_ENST00000409417.1_Missense_Mutation_p.T257M|AC037459.4_ENST00000430850.2_Missense_Mutation_p.T51M|PDLIM2_ENST00000308354.7_Missense_Mutation_p.T507M|PDLIM2_ENST00000409141.1_Intron|PDLIM2_ENST00000397760.4_Missense_Mutation_p.T257M|PDLIM2_ENST00000397761.2_Missense_Mutation_p.T257M|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000339162.7_Intron	p.T257M	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)	8	885	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	257					D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Missense_Mutation	SNP	ENST00000397760.4	37	c.770C>T		.	.	.	.	.	.	.	.	.	.	C	14.08	2.429109	0.43122	.	.	ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000248235	ENST00000308354;ENST00000397760;ENST00000397761;ENST00000265810;ENST00000409417;ENST00000430850	T;T;T;T;T;T	0.32023	3.47;2.54;2.54;2.63;2.54;1.47	4.98	4.98	0.66077	.	0.467948	0.21480	N	0.073849	T	0.47893	0.1470	L	0.57536	1.79	0.80722	D	1	D;D	0.76494	0.999;0.995	P;P	0.59703	0.862;0.513	T	0.45190	-0.9278	10	0.54805	T	0.06	-0.7767	15.171	0.72872	0.0:1.0:0.0:0.0	.	257;257	Q96JY6-3;Q96JY6	.;PDLI2_HUMAN	M	507;257;257;257;257;51	ENSP00000312634:T507M;ENSP00000380867:T257M;ENSP00000380868:T257M;ENSP00000265810:T257M;ENSP00000387084:T257M;ENSP00000428700:T51M	ENSP00000428700:T51M	T	+	2	0	AC037459.4;PDLIM2	22505015	0.022000	0.18835	0.468000	0.27192	0.006000	0.05464	0.786000	0.26844	2.309000	0.77851	0.561000	0.74099	ACG		0.632	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000334167.1			9	62	0	0	0	1	0	9	62				
RRP1	8568	broad.mit.edu	37	21	45213265	45213265	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr21:45213265C>T	ENST00000497547.1	+	4	457	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C		NM_003683.5	NP_003674.1	P05386	RLA1_HUMAN	ribosomal RNA processing 1	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		TGACAGGCTGCGCCTGGATAA	0.622																																						ENST00000497547.1																			0				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8						c.(340-342)Cgc>Tgc		ribosomal RNA processing 1							69.0	71.0	71.0					21																	45213265		1954	4142	6096	SO:0001583	missense	8568				rRNA processing	nucleolus|preribosome, small subunit precursor		g.chr21:45213265C>T	U79775	CCDS42951.1	21q22.3	2013-07-02	2013-07-02		ENSG00000160214	ENSG00000160214			18785	protein-coding gene	gene with protein product	"""DNA segment on chromosome 21 (unique) 2056 expressed sequence"", ""Nnp1 homolog, nucleolar protein (Drosophila)"""	610653	"""ribosomal RNA processing 1 homolog (S. cerevisiae)"""			10830953, 10341208	Standard	NM_003683		Approved	NNP-1, Nop52, NOP52, RRP1A, D21S2056E	uc002zds.2	P56182	OTTHUMG00000086884	ENST00000497547.1:c.340C>T	21.37:g.45213265C>T	ENSP00000417464:p.Arg114Cys						p.R114C	NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN		COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)	4	457	+			114					A6NIB2	Missense_Mutation	SNP	ENST00000497547.1	37	c.340C>T	CCDS42951.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038457	0.75617	.	.	ENSG00000160214	ENST00000497547;ENST00000400387	D	0.81908	-1.55	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.93409	0.7898	H	0.96301	3.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.966;0.98	D	0.95246	0.8355	10	0.87932	D	0	.	13.8584	0.63545	0.0:1.0:0.0:0.0	.	114;114	B4DZM3;P56182	.;RRP1_HUMAN	C	114	ENSP00000417464:R114C	ENSP00000383237:R114C	R	+	1	0	RRP1	44037693	1.000000	0.71417	0.997000	0.53966	0.905000	0.53344	3.000000	0.49481	1.989000	0.58080	0.511000	0.50034	CGC		0.622	RRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195680.1	NM_003683		5	175	0	0	0	1	0	5	175				
OTC	5009	broad.mit.edu	37	X	38240682	38240682	+	Splice_Site	SNP	G	G	A	rs66656800		TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chrX:38240682G>A	ENST00000039007.4	+	4	538	c.386G>A	c.(385-387)cGt>cAt	p.R129H	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	129			R -> H (in OTCD; 2.1% of wild-type activity; early onset). {ECO:0000269|PubMed:7951259, ECO:0000269|PubMed:8081398}.		ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	GACACGGCCCGGTTTGTAAAT	0.348																																						ENST00000039007.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	GRCh37	CM062969|CM930524|CM941118|CS930849	OTC	M|S	rs66656800	c.e4+1		ornithine carbamoyltransferase	L-Citrulline(DB00155)|L-Ornithine(DB00129)						68.0	63.0	65.0					X																	38240682		2202	4300	6502	SO:0001630	splice_region_variant	5009				arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	g.chrX:38240682G>A	K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.386+1G>A	X.37:g.38240682G>A						TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	p.R129_splice	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN			4	538	+			129		R -> H (in OTCD; 2.1% of wild-type activity; early onset).			A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Splice_Site	SNP	ENST00000039007.4	37	c.386_splice	CCDS14247.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539821	0.85917	.	.	ENSG00000036473	ENST00000039007	D	0.98792	-5.14	5.91	5.91	0.95273	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);	0.000000	0.85682	D	0.000000	D	0.99048	0.9674	M	0.86097	2.795	0.80722	A	1	D	0.76494	0.999	P	0.60345	0.873	D	0.99659	1.0993	9	0.62326	D	0.03	-0.2604	17.9083	0.88926	0.0:0.0:1.0:0.0	.	129	P00480	OTC_HUMAN	H	129	ENSP00000039007:R129H	ENSP00000039007:R129H	R	+	2	0	OTC	38125626	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.848000	0.75409	2.504000	0.84457	0.600000	0.82982	CGT		0.348	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2		Missense_Mutation	27	26	0	0	0	1	0	27	26				
GRM6	2916	broad.mit.edu	37	5	178413498	178413498	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr5:178413498G>T	ENST00000517717.1	-	9	1795	c.1757C>A	c.(1756-1758)gCa>gAa	p.A586E	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.A586E			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	586					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CGGCGGGGCTGCCCAGGGGGA	0.701																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1756-1758)gCa>gAa		glutamate receptor, metabotropic 6							13.0	15.0	15.0					5																	178413498		2191	4290	6481	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413498G>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1757C>A	5.37:g.178413498G>T	ENSP00000430767:p.Ala586Glu					GRM6_ENST00000517717.1_Missense_Mutation_p.A586E|RP11-281O15.4_ENST00000519491.1_RNA	p.A586E	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	1935	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	586						Missense_Mutation	SNP	ENST00000517717.1	37	c.1757C>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226346	0.79576	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.89875	-2.58;-2.58	4.97	4.97	0.65823	GPCR, family 3, C-terminal (1);	.	.	.	.	D	0.94951	0.8367	M	0.87758	2.905	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.79784	0.993;0.988	D	0.95674	0.8726	9	0.87932	D	0	.	16.0945	0.81110	0.0:0.0:1.0:0.0	.	742;586	E7EX65;O15303	.;GRM6_HUMAN	E	742;586;586	ENSP00000231188:A586E;ENSP00000430767:A586E	ENSP00000231188:A586E	A	-	2	0	GRM6	178346104	1.000000	0.71417	0.949000	0.38748	0.486000	0.33341	9.639000	0.98448	2.461000	0.83175	0.462000	0.41574	GCA		0.701	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			14	13	1	0	0.000151284	1	0.00015431	14	13				
DNAJC14	85406	broad.mit.edu	37	12	56221340	56221340	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr12:56221340C>A	ENST00000357606.3	-	3	1392	c.1103G>T	c.(1102-1104)tGg>tTg	p.W368L	DNAJC14_ENST00000317269.3_Missense_Mutation_p.W368L|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317287.5_Missense_Mutation_p.W368L|RP11-762I7.5_ENST00000546837.1_5'Flank			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	368					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGAATCCAGCCAAGAGAAGAG	0.562																																						ENST00000357606.3																			0				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						c.(1102-1104)tGg>tTg		DnaJ (Hsp40) homolog, subfamily C, member 14							68.0	70.0	69.0					12																	56221340		2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56221340C>A	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1103G>T	12.37:g.56221340C>A	ENSP00000350223:p.Trp368Leu					DNAJC14_ENST00000317269.3_Missense_Mutation_p.W368L|DNAJC14_ENST00000317287.5_Missense_Mutation_p.W368L	p.W368L			Q6Y2X3	DJC14_HUMAN			3	1392	-			368					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	c.1103G>T	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	C	4.286	0.052281	0.08291	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287	T;T;T	0.27890	1.64;1.64;1.64	5.2	4.31	0.51392	.	0.672136	0.14307	N	0.327953	T	0.19366	0.0465	N	0.24115	0.695	0.29096	N	0.881792	B;B	0.17038	0.02;0.02	B;B	0.17433	0.016;0.018	T	0.16453	-1.0402	9	.	.	.	-0.0394	8.0747	0.30710	0.0:0.8186:0.0:0.1814	.	368;368	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	L	368;368;78;368	ENSP00000350223:W368L;ENSP00000316240:W368L;ENSP00000317500:W368L	.	W	-	2	0	DNAJC14	54507607	0.987000	0.35691	0.998000	0.56505	0.165000	0.22458	0.557000	0.23454	1.336000	0.45506	0.655000	0.94253	TGG		0.562	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		28	107	1	0	4.4194e-11	1	4.74504e-11	28	107				
ABCA6	23460	broad.mit.edu	37	17	67132233	67132233	+	Splice_Site	SNP	C	C	A			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr17:67132233C>A	ENST00000284425.2	-	4	634	c.460G>T	c.(460-462)Gct>Tct	p.A154S	ABCA6_ENST00000590645.1_Missense_Mutation_p.G154C	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	154					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GGAAAGTCACCTGAGAAATCT	0.328																																						ENST00000590645.1																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(460-462)Ggt>Tgt		ATP-binding cassette, sub-family A (ABC1), member 6							31.0	31.0	31.0					17																	67132233		2203	4295	6498	SO:0001630	splice_region_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67132233C>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.460+1G>T	17.37:g.67132233C>A						ABCA6_ENST00000284425.2_Splice_Site_p.A154_splice	p.G154C			Q8N139	ABCA6_HUMAN			4	648	-	Breast(10;5.65e-12)		0					Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.460G>T	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.982947	0.53827	.	.	ENSG00000154262	ENST00000284425	D	0.86366	-2.11	5.68	4.72	0.59763	.	0.514050	0.15849	N	0.241599	D	0.92361	0.7576	M	0.84683	2.71	0.28922	N	0.892051	P	0.41978	0.767	P	0.56088	0.791	D	0.87829	0.2643	9	.	.	.	.	10.407	0.44266	0.0:0.911:0.0:0.089	.	154	Q8N139	ABCA6_HUMAN	S	154	ENSP00000284425:A154S	.	A	-	1	0	ABCA6	64643828	1.000000	0.71417	0.945000	0.38365	0.144000	0.21451	0.988000	0.29616	1.416000	0.47057	0.655000	0.94253	GCT		0.328	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	Missense_Mutation	20	42	1	0	1.56452e-12	1	1.69767e-12	20	42				
KCNB2	9312	broad.mit.edu	37	8	73480508	73480508	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr8:73480508G>T	ENST00000523207.1	+	2	1127	c.539G>T	c.(538-540)tGg>tTg	p.W180L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	180					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AAGAAACTGTGGGACTTGCTG	0.463																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(538-540)tGg>tTg		potassium voltage-gated channel, Shab-related subfamily, member 2							89.0	95.0	93.0					8																	73480508		2202	4300	6502	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480508G>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.539G>T	8.37:g.73480508G>T	ENSP00000430846:p.Trp180Leu						p.W180L	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1127	+	Breast(64;0.137)		180					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.539G>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.922581	0.73213	.	.	ENSG00000182674	ENST00000523207	D	0.98221	-4.8	5.77	5.77	0.91146	.	0.000000	0.36234	U	0.002718	D	0.98604	0.9533	H	0.96460	3.825	0.80722	D	1	B	0.27765	0.188	B	0.27715	0.082	D	0.97590	1.0116	10	0.87932	D	0	.	19.973	0.97292	0.0:0.0:1.0:0.0	.	180	Q92953	KCNB2_HUMAN	L	180	ENSP00000430846:W180L	ENSP00000430846:W180L	W	+	2	0	KCNB2	73643062	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	TGG		0.463	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		37	232	1	0	9.8876e-21	1	1.09623e-20	37	232				
PCDH15	65217	broad.mit.edu	37	10	55617002	55617002	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr10:55617002C>G	ENST00000320301.6	-	28	4133	c.3739G>C	c.(3739-3741)Gat>Cat	p.D1247H	PCDH15_ENST00000361849.3_Missense_Mutation_p.D1247H|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1247H|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.D858H|PCDH15_ENST00000395445.1_Missense_Mutation_p.D1254H|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1252H|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1247H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.D1254H|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1176H|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1210H|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1225H|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1247	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACTTGCATATCCAGCTGATTG	0.333										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(3760-3762)Gat>Cat		protocadherin-related 15							76.0	76.0	76.0					10																	55617002		2203	4299	6502	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55617002C>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3739G>C	10.37:g.55617002C>G	ENSP00000322604:p.Asp1247His	HNSCC(58;0.16)				PCDH15_ENST00000320301.6_Missense_Mutation_p.D1247H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1247H|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1247H|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1247H|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Missense_Mutation_p.D1254H|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1225H|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1252H|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1176H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.D858H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1210H	p.D1254H	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			29	4154	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1247			Cadherin 11.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3760G>C	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652516	0.88056	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.17	5.17	0.71159	Cadherin (2);	.	.	.	.	T	0.80059	0.4554	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.938	D;D;D;D;D;D;D;D;D;D;D;D;P	0.91635	0.999;0.99;0.984;0.984;0.993;0.993;0.999;0.976;0.984;0.984;0.979;0.984;0.596	T	0.81616	-0.0852	9	0.66056	D	0.02	.	18.2926	0.90135	0.0:1.0:0.0:0.0	.	1225;1247;1247;1252;1176;1210;1247;1247;1254;1254;1247;1252;1247	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	H	1254;1252;1247;1247;858;1254;1210;1247;1225;1247;1247;1252;1176	ENSP00000363076:D1254H;ENSP00000410304:D1252H;ENSP00000378826:D1247H;ENSP00000386693:D858H;ENSP00000378832:D1254H;ENSP00000378820:D1210H;ENSP00000354950:D1247H;ENSP00000378821:D1225H;ENSP00000322604:D1247H;ENSP00000378818:D1247H;ENSP00000412628:D1176H	ENSP00000322604:D1247H	D	-	1	0	PCDH15	55287008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.625000	0.83145	2.418000	0.82041	0.655000	0.94253	GAT		0.333	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		35	85	0	0	0	1	0	35	85				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	284802							g.chr20:29628245G>A			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.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	236	0	0	0	1	0	5	236				
DNAJC14	85406	broad.mit.edu	37	12	56221331	56221331	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr12:56221331G>C	ENST00000357606.3	-	3	1401	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C	DNAJC14_ENST00000317269.3_Missense_Mutation_p.S371C|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317287.5_Missense_Mutation_p.S371C|RP11-762I7.5_ENST00000546837.1_5'Flank			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	371					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CAAGGCTGGAGAATCCAGCCA	0.557																																						ENST00000357606.3																			0				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						c.(1111-1113)tCt>tGt		DnaJ (Hsp40) homolog, subfamily C, member 14							69.0	70.0	70.0					12																	56221331		2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56221331G>C	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1112C>G	12.37:g.56221331G>C	ENSP00000350223:p.Ser371Cys					DNAJC14_ENST00000317269.3_Missense_Mutation_p.S371C|DNAJC14_ENST00000317287.5_Missense_Mutation_p.S371C	p.S371C			Q6Y2X3	DJC14_HUMAN			3	1401	-			371					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	c.1112C>G	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	G	8.777	0.927426	0.18056	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287	T;T;T	0.36699	1.24;1.24;1.24	5.47	3.54	0.40534	.	0.325140	0.24321	N	0.039546	T	0.27697	0.0681	L	0.27053	0.805	0.31194	N	0.700601	D;P	0.54047	0.964;0.806	P;B	0.46718	0.525;0.371	T	0.16512	-1.0400	9	.	.	.	-3.0085	7.9134	0.29803	0.0883:0.0:0.7536:0.1581	.	371;371	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	C	371;371;81;371	ENSP00000350223:S371C;ENSP00000316240:S371C;ENSP00000317500:S371C	.	S	-	2	0	DNAJC14	54507598	0.950000	0.32346	0.992000	0.48379	0.099000	0.18886	1.368000	0.34216	0.700000	0.31782	0.655000	0.94253	TCT		0.557	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		30	105	0	0	0	1	0	30	105				
ZFHX4	79776	broad.mit.edu	37	8	77768233	77768233	+	Missense_Mutation	SNP	A	A	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr8:77768233A>T	ENST00000521891.2	+	10	9524	c.9076A>T	c.(9076-9078)Att>Ttt	p.I3026F	ZFHX4_ENST00000050961.6_Missense_Mutation_p.I2981F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.I2981F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.I3000F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2981					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGAGATCACATTTTCTCCAA	0.522										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(9076-9078)Att>Ttt		zinc finger homeobox 4							61.0	60.0	60.0					8																	77768233		1956	4142	6098	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768233A>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9076A>T	8.37:g.77768233A>T	ENSP00000430497:p.Ile3026Phe	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.I3000F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.I2981F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.I2981F	p.I3026F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9524	+			2981					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9076A>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	15.51	2.855191	0.51376	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.59638	0.25;0.31;0.27;0.27	5.33	5.33	0.75918	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.44902	U	0.000410	T	0.74801	0.3764	M	0.71581	2.175	0.80722	D	1	D;D;D	0.71674	0.994;0.997;0.998	D;D;D	0.78314	0.968;0.986;0.991	T	0.77882	-0.2422	10	0.72032	D	0.01	.	15.4656	0.75397	1.0:0.0:0.0:0.0	.	2981;2981;3026	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	F	3026;3010;2981;2981;3000	ENSP00000430497:I3026F;ENSP00000399605:I2981F;ENSP00000050961:I2981F;ENSP00000430848:I3000F	ENSP00000050961:I2981F	I	+	1	0	ZFHX4	77930788	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.385000	0.79763	2.241000	0.73720	0.533000	0.62120	ATT		0.522	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		10	111	0	0	0	1	0	10	111				
SIPA1L3	23094	broad.mit.edu	37	19	38573489	38573489	+	Silent	SNP	G	G	A			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr19:38573489G>A	ENST00000222345.6	+	3	1793	c.1284G>A	c.(1282-1284)ccG>ccA	p.P428P		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	428					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCAGCTGCCCGCACTTCCGCA	0.647																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(1282-1284)ccG>ccA		signal-induced proliferation-associated 1 like 3							63.0	62.0	63.0					19																	38573489		2203	4300	6503	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38573489G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1284G>A	19.37:g.38573489G>A							p.P428P	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	1793	+			428					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.1284G>A	CCDS33007.1																																																																																				0.647	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		6	112	0	0	0	1	0	6	112				
SDC3	9672	broad.mit.edu	37	1	31346159	31346159	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr1:31346159G>A	ENST00000339394.6	-	5	1402	c.1228C>T	c.(1228-1230)Cgt>Tgt	p.R410C	SDC3_ENST00000336798.7_Missense_Mutation_p.R352C	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	410					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTCATACGATAGATGAGC	0.562																																						ENST00000336798.7																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1054-1056)Cgt>Tgt		syndecan 3							120.0	102.0	108.0					1																	31346159		2203	4300	6503	SO:0001583	missense	9672					integral to membrane	cytoskeletal protein binding	g.chr1:31346159G>A	AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"""Proteoglycans / Cell Surface : Syndecans"""	10660	protein-coding gene	gene with protein product	"""syndecan proteoglycan 3"""	186357	"""syndecan 3 (N-syndecan)"""			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.1228C>T	1.37:g.31346159G>A	ENSP00000344468:p.Arg410Cys					SDC3_ENST00000339394.6_Missense_Mutation_p.R410C	p.R352C			O75056	SDC3_HUMAN		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)	3	2546	-		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	410					Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Missense_Mutation	SNP	ENST00000339394.6	37	c.1054C>T	CCDS30661.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519348	0.85495	.	.	ENSG00000162512	ENST00000336798;ENST00000339394	T;T	0.81415	-1.46;-1.49	5.3	5.3	0.74995	Neurexin/syndecan/glycophorin C (1);	0.000000	0.64402	D	0.000014	D	0.85128	0.5626	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87038	0.2139	10	0.87932	D	0	-10.5787	18.5454	0.91044	0.0:0.0:1.0:0.0	.	410;352	O75056;D3DPN2	SDC3_HUMAN;.	C	352;410	ENSP00000338346:R352C;ENSP00000344468:R410C	ENSP00000338346:R352C	R	-	1	0	SDC3	31118746	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.637000	0.83313	2.502000	0.84385	0.462000	0.41574	CGT		0.562	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654		31	44	0	0	0	1	0	31	44				
RASGRP3	25780	broad.mit.edu	37	2	33774800	33774800	+	Silent	SNP	C	C	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr2:33774800C>T	ENST00000403687.3	+	14	2264	c.1524C>T	c.(1522-1524)tgC>tgT	p.C508C	RASGRP3_ENST00000402538.3_Silent_p.C508C|RASGRP3_ENST00000407811.1_Silent_p.C507C	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	508					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CAACCTTCTGCGAACACTGTG	0.388																																						ENST00000403687.3																			0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.(1522-1524)tgC>tgT		RAS guanyl releasing protein 3 (calcium and DAG-regulated)							173.0	152.0	159.0					2																	33774800		1874	4106	5980	SO:0001819	synonymous_variant	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33774800C>T	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1524C>T	2.37:g.33774800C>T						RASGRP3_ENST00000407811.1_Silent_p.C507C|RASGRP3_ENST00000402538.3_Silent_p.C508C	p.C508C	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN			14	2264	+	all_hematologic(175;0.115)		508					D6W583|O94931|Q53SD7	Silent	SNP	ENST00000403687.3	37	c.1524C>T	CCDS46256.1																																																																																				0.388	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		10	28	0	0	0	1	0	10	28				
MDN1	23195	broad.mit.edu	37	6	90455081	90455081	+	Silent	SNP	G	G	A	rs565438867		TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr6:90455081G>A	ENST00000369393.3	-	29	4204	c.4089C>T	c.(4087-4089)atC>atT	p.I1363I	MDN1_ENST00000428876.1_Silent_p.I1363I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1363					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAGTCCACACGATATGGCCAA	0.433																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(4087-4089)atC>atT		MDN1, midasin homolog (yeast)							123.0	109.0	114.0					6																	90455081		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90455081G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.4089C>T	6.37:g.90455081G>A						MDN1_ENST00000428876.1_Silent_p.I1363I	p.I1363I			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	29	4204	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1363					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.4089C>T	CCDS5024.1																																																																																				0.433	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			35	69	0	0	0	1	0	35	69				
IL9	3578	broad.mit.edu	37	5	135229825	135229825	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr5:135229825G>C	ENST00000274520.1	-	4	209	c.199C>G	c.(199-201)Cca>Gca	p.P67A		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	67					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-5 biosynthetic process (GO:0045407)	extracellular space (GO:0005615)				large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGAAGCATGGTCTGGTGCAG	0.373																																						ENST00000274520.1																			0				large_intestine(3)|lung(2)|pancreas(1)	6						c.(199-201)Cca>Gca		interleukin 9							141.0	133.0	136.0					5																	135229825		2203	4300	6503	SO:0001583	missense	3578				immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity	g.chr5:135229825G>C	S63356	CCDS4189.1	5q31-q35	2008-07-18			ENSG00000145839	ENSG00000145839		"""Interleukins and interleukin receptors"""	6029	protein-coding gene	gene with protein product	"""p40 T-cell and mast cell growth factor"", ""T-cell growth factor p40"", ""p40 cytokine"", ""homolog of mouse T cell and mast cell growth factor 40"""	146931				8379467	Standard	NM_000590		Approved	IL-9, HP40, P40	uc003lbb.1	P15248	OTTHUMG00000129147	ENST00000274520.1:c.199C>G	5.37:g.135229825G>C	ENSP00000274520:p.Pro67Ala						p.P67A	NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		4	209	-			67						Missense_Mutation	SNP	ENST00000274520.1	37	c.199C>G	CCDS4189.1	.	.	.	.	.	.	.	.	.	.	G	3.448	-0.112629	0.06881	.	.	ENSG00000145839	ENST00000274520	T	0.41065	1.01	5.81	2.67	0.31697	.	0.256684	0.27673	N	0.018340	T	0.17831	0.0428	N	0.11064	0.09	0.09310	N	0.999997	B	0.25048	0.117	B	0.29524	0.103	T	0.32508	-0.9904	10	0.02654	T	1	2.217	5.7484	0.18132	0.1217:0.4386:0.4398:0.0	.	67	P15248	IL9_HUMAN	A	67	ENSP00000274520:P67A	ENSP00000274520:P67A	P	-	1	0	IL9	135257724	0.098000	0.21812	0.054000	0.19295	0.079000	0.17450	0.712000	0.25779	0.798000	0.33994	0.650000	0.86243	CCA		0.373	IL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251210.1	NM_000590		4	59	0	0	0	1	0	4	59				
NLRP13	126204	broad.mit.edu	37	19	56424579	56424579	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr19:56424579C>T	ENST00000342929.3	-	5	603	c.604G>A	c.(604-606)Gta>Ata	p.V202I	NLRP13_ENST00000588751.1_Missense_Mutation_p.V202I	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	202							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CGGATATATACGTGGTCTTTA	0.498																																						ENST00000588751.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(604-606)Gta>Ata		NLR family, pyrin domain containing 13							170.0	181.0	177.0					19																	56424579		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56424579C>T	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.604G>A	19.37:g.56424579C>T	ENSP00000343891:p.Val202Ile					NLRP13_ENST00000342929.3_Missense_Mutation_p.V202I	p.V202I			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	628	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	202					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.604G>A	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.358252	0.01245	.	.	ENSG00000173572	ENST00000342929	T	0.72051	-0.62	2.12	1.07	0.20283	.	.	.	.	.	T	0.44644	0.1303	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25710	-1.0124	9	0.36615	T	0.2	.	3.576	0.07934	0.0:0.2209:0.0:0.7791	.	202	Q86W25	NAL13_HUMAN	I	202	ENSP00000343891:V202I	ENSP00000343891:V202I	V	-	1	0	NLRP13	61116391	0.001000	0.12720	0.003000	0.11579	0.004000	0.04260	-0.013000	0.12678	0.296000	0.22592	-0.482000	0.04802	GTA		0.498	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		8	191	0	0	0	1	0	8	191				
CD47	961	broad.mit.edu	37	3	107799072	107799072	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr3:107799072C>T	ENST00000361309.5	-	2	271	c.166G>A	c.(166-168)Gta>Ata	p.V56I	CD47_ENST00000355354.7_Missense_Mutation_p.V56I	NM_001777.3	NP_001768.1	Q08722	CD47_HUMAN	CD47 molecule	56	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|opsonization (GO:0008228)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of inflammatory response (GO:0050729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T cell activation (GO:0050870)|response to bacterium (GO:0009617)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			TTCCACTTTACGTATACTTCA	0.353																																						ENST00000355354.7																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9						c.(166-168)Gta>Ata		CD47 molecule							144.0	128.0	133.0					3																	107799072		1857	4101	5958	SO:0001583	missense	961				blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to plasma membrane	protein binding|thrombospondin receptor activity	g.chr3:107799072C>T		CCDS43125.1, CCDS43126.1	3q13.1-q13.2	2013-01-11	2006-03-28		ENSG00000196776	ENSG00000196776		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1682	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibody 1D8"", ""antigenic surface determinant protein OA3"", ""integrin associated protein"", ""Rh-related antigen"", ""leukocyte surface antigen CD47"", ""CD47 glycoprotein"""	601028	"""CD47 antigen (Rh-related antigen, integrin-associated signal transducer)"""	MER6		8294396, 2277087	Standard	XM_005247908		Approved	IAP, OA3	uc003dwt.1	Q08722	OTTHUMG00000044216	ENST00000361309.5:c.166G>A	3.37:g.107799072C>T	ENSP00000355361:p.Val56Ile					CD47_ENST00000361309.5_Missense_Mutation_p.V56I	p.V56I	NM_198793.2	NP_942088.1	Q08722	CD47_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)		2	282	-			56			Ig-like V-type.		A8K198|D3DN59|Q53Y71|Q96A60	Missense_Mutation	SNP	ENST00000361309.5	37	c.166G>A	CCDS43126.1	.	.	.	.	.	.	.	.	.	.	C	5.976	0.364087	0.11296	.	.	ENSG00000196776	ENST00000355354;ENST00000361309	T;T	0.02863	4.13;4.13	6.04	5.16	0.70880	Immunoglobulin-like (1);CD47 immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	T	0.03178	0.0093	L	0.47190	1.495	0.30309	N	0.788738	P;P;P;P	0.41784	0.762;0.524;0.579;0.579	B;B;B;B	0.27715	0.049;0.049;0.082;0.082	T	0.13415	-1.0510	10	0.59425	D	0.04	.	14.0095	0.64486	0.1516:0.8484:0.0:0.0	.	56;56;56;56	Q08722-2;Q08722-3;E9PB22;Q08722	.;.;.;CD47_HUMAN	I	56	ENSP00000347512:V56I;ENSP00000355361:V56I	ENSP00000347512:V56I	V	-	1	0	CD47	109281762	0.600000	0.26899	0.279000	0.24732	0.048000	0.14542	1.044000	0.30329	1.543000	0.49345	0.561000	0.74099	GTA		0.353	CD47-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000102793.1	NM_001777		35	123	0	0	0	1	0	35	123				
ZFYVE26	23503	broad.mit.edu	37	14	68249661	68249661	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr14:68249661C>T	ENST00000347230.4	-	21	4346	c.4208G>A	c.(4207-4209)gGc>gAc	p.G1403D	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.G1403D	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1403					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGAATGTAGGCCCAGGAGAAC	0.577																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(4207-4209)gGc>gAc		zinc finger, FYVE domain containing 26							89.0	92.0	91.0					14																	68249661		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68249661C>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.4208G>A	14.37:g.68249661C>T	ENSP00000251119:p.Gly1403Asp					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.G1403D	p.G1403D	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	21	4346	-			1403					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.4208G>A	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443097	0.83993	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.38722	1.33;1.12	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.67163	0.2864	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.66460	-0.5918	10	0.66056	D	0.02	-20.5698	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1403;1403	G3V2D8;Q68DK2	.;ZFY26_HUMAN	D	1403;1382;1403	ENSP00000251119:G1403D;ENSP00000450603:G1403D	ENSP00000251119:G1403D	G	-	2	0	ZFYVE26	67319414	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	7.014000	0.76380	2.861000	0.98227	0.655000	0.94253	GGC		0.577	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		40	85	0	0	0	1	0	40	85				
VLDLR	7436	broad.mit.edu	37	9	2643960	2643960	+	Splice_Site	SNP	G	G	A			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr9:2643960G>A	ENST00000382100.3	+	7	1422		c.e7+1		RP11-125B21.2_ENST00000599229.1_RNA|VLDLR_ENST00000382099.2_Splice_Site	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor						cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		AAAGAGTGTCGTAAGTGTACT	0.448																																						ENST00000382100.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.e7+1		very low density lipoprotein receptor							113.0	119.0	117.0					9																	2643960		2203	4300	6503	SO:0001630	splice_region_variant	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2643960G>A		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.1066+1G>A	9.37:g.2643960G>A						VLDLR_ENST00000382099.2_Splice_Site		NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	7	1422	+								B2RMZ7|D3DRH6|Q5VVF6	Splice_Site	SNP	ENST00000382100.3	37		CCDS6446.1	.	.	.	.	.	.	.	.	.	.	.	25.9	4.683175	0.88542	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0058	0.92851	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VLDLR	2633960	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	9.657000	0.98554	2.721000	0.93114	0.655000	0.94253	.		0.448	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383	Intron	35	123	0	0	0	1	0	35	123				
AKAP3	10566	broad.mit.edu	37	12	4735810	4735810	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr12:4735810G>A	ENST00000545990.2	-	5	2782	c.2258C>T	c.(2257-2259)gCa>gTa	p.A753V	AKAP3_ENST00000228850.1_Missense_Mutation_p.A753V|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	753					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CGTGGGTGCTGCACACCCTTC	0.527																																						ENST00000545990.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						c.(2257-2259)gCa>gTa		A kinase (PRKA) anchor protein 3							152.0	135.0	141.0					12																	4735810		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4735810G>A	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.2258C>T	12.37:g.4735810G>A	ENSP00000440994:p.Ala753Val					AKAP3_ENST00000228850.1_Missense_Mutation_p.A753V	p.A753V	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN			5	2782	-			753					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.2258C>T	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	G	5.502	0.277632	0.10403	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.07114	3.22;3.22	4.91	-1.07	0.09968	A-kinase anchor 110kDa, C-terminal (1);	1.646220	0.03191	N	0.173306	T	0.06781	0.0173	L	0.36672	1.1	0.09310	N	1	B	0.15719	0.014	B	0.16289	0.015	T	0.37033	-0.9723	10	0.17369	T	0.5	1.0532	3.7499	0.08562	0.2735:0.0:0.2569:0.4696	.	753	O75969	AKAP3_HUMAN	V	753	ENSP00000228850:A753V;ENSP00000440994:A753V	ENSP00000228850:A753V	A	-	2	0	AKAP3	4606071	0.000000	0.05858	0.000000	0.03702	0.515000	0.34225	0.261000	0.18442	-0.032000	0.13758	0.655000	0.94253	GCA		0.527	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		4	138	0	0	0	1	0	4	138				
PRDX2	7001	broad.mit.edu	37	19	12907963	12907963	+	Missense_Mutation	SNP	T	T	C			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr19:12907963T>C	ENST00000301522.2	-	6	657	c.529A>G	c.(529-531)Aag>Gag	p.K177E	PRDX2_ENST00000334482.5_Missense_Mutation_p.E133G|CTD-2659N19.10_ENST00000585496.1_RNA	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	177					cellular response to oxidative stress (GO:0034599)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of apoptotic process (GO:0042981)|removal of superoxide radicals (GO:0019430)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CTGCCAGGCTTCCAGCCAGCG	0.522											OREG0025274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301522.2																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(529-531)Aag>Gag		peroxiredoxin 2							138.0	101.0	114.0					19																	12907963		2203	4300	6503	SO:0001583	missense	7001				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity	g.chr19:12907963T>C		CCDS12281.1	19p13.2	2008-07-17			ENSG00000167815	ENSG00000167815			9353	protein-coding gene	gene with protein product	"""thioredoxin-dependent peroxide reductase 1"", ""thiol-specific antioxidant 1"", ""natural killer-enhancing factor B"", ""thioredoxin peroxidase 1"", ""torin"""	600538		TDPX1		7607688	Standard	NM_005809		Approved	PRP, NKEFB, TSA, PRXII, PRX2, MGC4104	uc002mvd.4	P32119	OTTHUMG00000134285	ENST00000301522.2:c.529A>G	19.37:g.12907963T>C	ENSP00000301522:p.Lys177Glu		OREG0025274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000334482.5_Missense_Mutation_p.E133G	p.K177E	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN			6	657	-			177					A8K0C0|P31945|P32118|P35701|Q6FHG4|Q92763|Q9UC23	Missense_Mutation	SNP	ENST00000301522.2	37	c.529A>G	CCDS12281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.46|15.46	2.840749|2.840749	0.51057|0.51057	.|.	.|.	ENSG00000167815|ENSG00000167815	ENST00000334482|ENST00000301522	T|T	0.32515|0.34072	1.45|1.38	4.94|4.94	3.93|3.93	0.45458|0.45458	.|Peroxiredoxin, C-terminal (1);Thioredoxin-like fold (1);	.|0.747740	.|0.12312	.|N	.|0.480129	T|T	0.37348|0.37348	0.1000|0.1000	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|B	.|0.14805	.|0.011	.|B	.|0.24701	.|0.055	T|T	0.28138|0.28138	-1.0053|-1.0053	7|10	0.72032|0.66056	D|D	0.01|0.02	-19.1785|-19.1785	6.2953|6.2953	0.21083|0.21083	0.0:0.0858:0.1604:0.7538|0.0:0.0858:0.1604:0.7538	.|.	.|177	.|P32119	.|PRDX2_HUMAN	G|E	133|177	ENSP00000334063:E133G|ENSP00000301522:K177E	ENSP00000334063:E133G|ENSP00000301522:K177E	E|K	-|-	2|1	0|0	PRDX2|PRDX2	12768963|12768963	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.996000|0.996000	0.88848|0.88848	2.342000|2.342000	0.43992|0.43992	0.923000|0.923000	0.37045|0.37045	0.379000|0.379000	0.24179|0.24179	GAA|AAG		0.522	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258950.2	NM_005809		19	46	0	0	0	1	0	19	46				
MUC4	4585	broad.mit.edu	37	3	195512606	195512606	+	Missense_Mutation	SNP	G	G	C	rs201293918	byFrequency	TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr3:195512606G>C	ENST00000463781.3	-	2	6304	c.5845C>G	c.(5845-5847)Cac>Gac	p.H1949D	MUC4_ENST00000475231.1_Missense_Mutation_p.H1949D|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGTGGTGTGACCTGAGGAT	0.597																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(5845-5847)Cac>Gac		mucin 4, cell surface associated							49.0	44.0	45.0					3																	195512606		691	1589	2280	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195512606G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5845C>G	3.37:g.195512606G>C	ENSP00000417498:p.His1949Asp					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H1949D	p.H1949D	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6304	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	709					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.5845C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	1.416	-0.574101	0.03882	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.28069	1.65;1.63	.	.	.	.	.	.	.	.	T	0.11153	0.0272	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.01281	0.0	T	0.25152	-1.0140	7	.	.	.	.	5.4844	0.16741	1.0E-4:0.348:0.652:0.0	.	1949	E7ESK3	.	D	1949	ENSP00000417498:H1949D;ENSP00000420243:H1949D	.	H	-	1	0	MUC4	196997001	0.006000	0.16342	0.024000	0.17045	0.016000	0.09150	-2.324000	0.01116	-2.418000	0.00566	-2.366000	0.00237	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	5	0	0	0	1	0	3	5				
TTI2	80185	broad.mit.edu	37	8	33356711	33356711	+	Missense_Mutation	SNP	C	C	T	rs139842383		TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr8:33356711C>T	ENST00000431156.2	-	8	2125	c.1507G>A	c.(1507-1509)Gca>Aca	p.A503T	TTI2_ENST00000520636.1_Missense_Mutation_p.A472T|TTI2_ENST00000519356.1_Intron|TTI2_ENST00000360742.5_Missense_Mutation_p.A503T|MAK16_ENST00000360128.6_3'UTR	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	503																	TTGTAGGGTGCGCCTTCAGAA	0.398													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14863	0.0		0.0	False		,,,				2504	0.0					ENST00000431156.2																			0											c.(1507-1509)Gca>Aca		TELO2 interacting protein 2		C	THR/ALA,THR/ALA,	1,4405	2.1+/-5.4	0,1,2202	99.0	98.0	98.0		1507,1507,	-7.9	0.0	8	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,utr-3	TTI2,MAK16	NM_001102401.1,NM_025115.2,NM_032509.3	58,58,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,	503/509,503/509,	33356711	2,13004	2203	4300	6503	SO:0001583	missense	80185						binding	g.chr8:33356711C>T	AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.1507G>A	8.37:g.33356711C>T	ENSP00000411169:p.Ala503Thr					MAK16_ENST00000360128.6_3'UTR|TTI2_ENST00000519356.1_Intron|TTI2_ENST00000360742.5_Missense_Mutation_p.A503T|TTI2_ENST00000520636.1_Missense_Mutation_p.A472T	p.A503T	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN			8	2125	-			503					D3DSV7|Q96IM2|Q9H5N4	Missense_Mutation	SNP	ENST00000431156.2	37	c.1507G>A	CCDS6090.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.87	2.365161	0.41902	2.27E-4	1.16E-4	ENSG00000129696	ENST00000360742;ENST00000431156;ENST00000522668;ENST00000520636;ENST00000520397	T;T;T	0.55413	0.53;0.53;0.52	5.94	-7.89	0.01174	.	1.689140	0.03042	N	0.153505	T	0.30166	0.0756	L	0.27053	0.805	0.09310	N	0.999999	B;B;B	0.21452	0.056;0.018;0.007	B;B;B	0.10450	0.002;0.005;0.002	T	0.28235	-1.0050	10	0.06891	T	0.86	2.3133	7.3096	0.26467	0.0996:0.1297:0.0986:0.672	.	338;503;472	E5RH83;Q6NXR4;E5RIH5	.;TTI2_HUMAN;.	T	503;503;492;472;338	ENSP00000353971:A503T;ENSP00000411169:A503T;ENSP00000428401:A472T	ENSP00000353971:A503T	A	-	1	0	C8orf41	33476253	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-3.356000	0.00499	-1.240000	0.02529	0.563000	0.77884	GCA		0.398	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115		15	112	0	0	0	1	0	15	112				
ZNF658	26149	broad.mit.edu	37	9	40774444	40774444	+	Silent	SNP	T	T	C			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr9:40774444T>C	ENST00000602553.1	-	5	1125	c.831A>G	c.(829-831)acA>acG	p.T277T	ZNF658_ENST00000441795.1_Silent_p.T275T|ZNF658_ENST00000377626.3_Silent_p.T277T			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGTCACAGGATGTCCCATATT	0.363																																						ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(829-831)acA>acG		zinc finger protein 658							156.0	160.0	158.0					9																	40774444		2203	4300	6503	SO:0001819	synonymous_variant	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40774444T>C	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.831A>G	9.37:g.40774444T>C						ZNF658_ENST00000441795.1_Silent_p.T275T|ZNF658_ENST00000377626.3_Silent_p.T277T	p.T277T			Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	1125	-			277					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Silent	SNP	ENST00000602553.1	37	c.831A>G	CCDS35023.1																																																																																				0.363	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		5	451	0	0	0	1	0	5	451				
TRPV5	56302	broad.mit.edu	37	7	142605775	142605775	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr7:142605775G>A	ENST00000265310.1	-	15	2443	c.2095C>T	c.(2095-2097)Cga>Tga	p.R699*		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	699					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCCCAGCCTCGGTGACTGCTG	0.562																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(2095-2097)Cga>Tga		transient receptor potential cation channel, subfamily V, member 5							93.0	86.0	88.0					7																	142605775		2203	4300	6503	SO:0001587	stop_gained	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142605775G>A	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.2095C>T	7.37:g.142605775G>A	ENSP00000265310:p.Arg699*						p.R699*	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN			15	2443	-	Melanoma(164;0.059)		699					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Nonsense_Mutation	SNP	ENST00000265310.1	37	c.2095C>T	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873145	0.91664	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	.	.	.	4.99	0.706	0.18133	.	0.560888	0.18924	N	0.127385	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.5235	4.9499	0.14009	0.1724:0.0:0.4205:0.4071	.	.	.	.	X	699;644	.	ENSP00000265310:R699X	R	-	1	2	TRPV5	142315897	0.998000	0.40836	0.997000	0.53966	0.888000	0.51559	0.811000	0.27198	0.263000	0.21812	-0.181000	0.13052	CGA		0.562	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		22	44	0	0	0	1	0	22	44				
ADRA1D	146	broad.mit.edu	37	20	4229106	4229106	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr20:4229106C>T	ENST00000379453.4	-	1	615	c.499G>A	c.(499-501)Gcc>Acc	p.A167T		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	167					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TCGCAGAAGGCGCGGCCAAAG	0.667																																						ENST00000379453.4																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(499-501)Gcc>Acc		adrenoceptor alpha 1D	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)						33.0	45.0	41.0					20																	4229106		2197	4300	6497	SO:0001583	missense	146				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr20:4229106C>T	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.499G>A	20.37:g.4229106C>T	ENSP00000368766:p.Ala167Thr						p.A167T	NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN			1	615	-			167					Q9NPY0	Missense_Mutation	SNP	ENST00000379453.4	37	c.499G>A	CCDS13079.1	.	.	.	.	.	.	.	.	.	.	c	12.59	1.984684	0.35036	.	.	ENSG00000171873	ENST00000379453	T	0.73789	-0.78	4.57	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.204155	0.40908	N	0.000983	T	0.54175	0.1842	N	0.16130	0.375	0.23168	N	0.998184	B	0.10296	0.003	B	0.15870	0.014	T	0.36866	-0.9730	10	0.22109	T	0.4	.	9.6021	0.39609	0.0:0.8945:0.0:0.1055	.	167	P25100	ADA1D_HUMAN	T	167	ENSP00000368766:A167T	ENSP00000368766:A167T	A	-	1	0	ADRA1D	4177106	0.999000	0.42202	0.975000	0.42487	0.963000	0.63663	1.450000	0.35134	1.124000	0.41980	0.552000	0.68991	GCC		0.667	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	NM_000678		6	33	0	0	0	1	0	6	33				
KCNAB2	8514	broad.mit.edu	37	1	6156814	6156814	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr1:6156814delT	ENST00000164247.1	+	14	1487	c.923delT	c.(922-924)atafs	p.I308fs	KCNAB2_ENST00000352527.1_Frame_Shift_Del_p.I294fs|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000602612.1_Frame_Shift_Del_p.I308fs|KCNAB2_ENST00000341524.1_Frame_Shift_Del_p.I308fs|KCNAB2_ENST00000378097.1_Frame_Shift_Del_p.I308fs|KCNAB2_ENST00000378083.3_Frame_Shift_Del_p.I356fs|KCNAB2_ENST00000458166.2_Frame_Shift_Del_p.I241fs|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378092.1_Frame_Shift_Del_p.I294fs	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	308					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCTGGCCATAGGTAACGGT	0.682																																						ENST00000164247.1																			0				large_intestine(1)|lung(4)|skin(3)	8						c.(922-924)aafs		potassium voltage-gated channel, shaker-related subfamily, beta member 2							12.0	15.0	14.0					1																	6156814		2184	4275	6459	SO:0001589	frameshift_variant	8514					cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr1:6156814delT	U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"""Potassium channels"", ""Aldo-keto reductases"""	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.923delT	1.37:g.6156814delT	ENSP00000164247:p.Ile308fs					KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000378092.1_Frame_Shift_Del_p.I294fs|KCNAB2_ENST00000378083.3_Frame_Shift_Del_p.I356fs|KCNAB2_ENST00000378097.1_Frame_Shift_Del_p.I308fs|KCNAB2_ENST00000602612.1_Frame_Shift_Del_p.I308fs|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000352527.1_Frame_Shift_Del_p.I294fs|KCNAB2_ENST00000341524.1_Frame_Shift_Del_p.I308fs|KCNAB2_ENST00000458166.2_Frame_Shift_Del_p.I241fs	p.I308fs	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)	14	1487	+	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	308					A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Frame_Shift_Del	DEL	ENST00000164247.1	37	c.923delT	CCDS55.1																																																																																				0.682	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002114.3	NM_172130		2	4						2	4	---	---	---	---
IGKV1D-8	28904	broad.mit.edu	37	2	90259860	90259861	+	RNA	INS	-	-	C			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr2:90259860_90259861insC	ENST00000471857.1	+	0	236									immunoglobulin kappa variable 1D-8																		AATTTACTCAGCCAATGTGCTC	0.48																																						ENST00000471857.1																			0																																																			28904							g.chr2:90259860_90259861insC	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90259862_90259862dupC														0	236	+									RNA	INS	ENST00000471857.1	37																																																																																						0.480	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		7	208						7	208	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35771703	35771710	+	Splice_Site	DEL	GCAACCAG	GCAACCAG	-	rs138022749	byFrequency	TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr5:35771703_35771710delGCAACCAG	ENST00000356031.3	+	27	3955		c.e27-1		SPEF2_ENST00000440995.2_Splice_Site|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2						axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGCTGTTACGCAACCAGGTGGCTGCTG	0.375																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.e27-1		sperm flagellar 2																																				SO:0001630	splice_region_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35771703_35771710delGCAACCAG	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3802-1GCAACCAG>-	5.37:g.35771703_35771710delGCAACCAG						CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Splice_Site				Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		27	3786	+	all_lung(31;7.56e-05)							Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Splice_Site	DEL	ENST00000356031.3	37		CCDS43309.1																																																																																				0.375	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	Intron	9	75						9	75	---	---	---	---
MYBL1	4603	broad.mit.edu	37	8	67488453	67488453	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr8:67488453delT	ENST00000522677.3	-	10	1669	c.1259delA	c.(1258-1260)aacfs	p.N420fs	MYBL1_ENST00000524176.2_Frame_Shift_Del_p.N420fs|MYBL1_ENST00000517885.1_Intron	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	420	Negative regulatory domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			ATTACAAGTGTTTTTTTTCCC	0.403																																						ENST00000522677.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25						c.(1258-1260)acfs		v-myb avian myeloblastosis viral oncogene homolog-like 1							210.0	194.0	199.0					8																	67488453		1900	4122	6022	SO:0001589	frameshift_variant	4603				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr8:67488453delT	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.1259delA	8.37:g.67488453delT	ENSP00000429633:p.Asn420fs					MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Frame_Shift_Del_p.N420fs	p.N420fs	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		10	1669	-			420			Negative regulatory domain (By similarity).		E7EW29|Q495F9	Frame_Shift_Del	DEL	ENST00000522677.3	37	c.1259delA	CCDS47867.1																																																																																				0.403	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		8	443						8	443	---	---	---	---
AC124997.1	0	broad.mit.edu	37	15	25773086	25773088	+	lincRNA	DEL	GGT	GGT	-	rs200990535	byFrequency	TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr15:25773086_25773088delGGT	ENST00000422117.1	-	0	167																											TGGTATTTGAggtggtggtggtg	0.542														93	0.0185703	0.0643	0.0072	5008	,	,		24108	0.002		0.001	False		,,,				2504	0.0					ENST00000422117.1																			0																																																			0							g.chr15:25773086_25773088delGGT																													15.37:g.25773095_25773097delGGT														0	167	-									RNA	DEL	ENST00000422117.1	37																																																																																						0.542	AC124997.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000126738.1			2	4						2	4	---	---	---	---
MTMR10	54893	broad.mit.edu	37	15	31245804	31245804	+	Frame_Shift_Del	DEL	A	A	-			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr15:31245804delA	ENST00000435680.1	-	11	1194	c.1097delT	c.(1096-1098)ttafs	p.L366fs	MTMR10_ENST00000563714.1_Frame_Shift_Del_p.L284fs|MTMR10_ENST00000314404.8_Frame_Shift_Del_p.L118fs|RNU6-466P_ENST00000391224.1_RNA|MTMR10_ENST00000425768.1_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	366	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CAGTGAAGATAACCATTTCTC	0.284																																						ENST00000435680.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(1096-1098)tafs		myotubularin related protein 10							59.0	55.0	56.0					15																	31245804		1766	3955	5721	SO:0001589	frameshift_variant	54893						phosphatase activity	g.chr15:31245804delA	AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.1097delT	15.37:g.31245804delA	ENSP00000402537:p.Leu366fs					MTMR10_ENST00000563714.1_Frame_Shift_Del_p.L284fs|MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000314404.8_Frame_Shift_Del_p.L118fs	p.L366fs	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)	11	1194	-		all_lung(180;2.81e-11)	366			Myotubularin phosphatase.		Q6P4Q6	Frame_Shift_Del	DEL	ENST00000435680.1	37	c.1097delT	CCDS45204.1																																																																																				0.284	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		2	4						2	4	---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1265068	1265070	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr16:1265068_1265070delTTC	ENST00000348261.5	+	28	5274_5276	c.5026_5028delTTC	c.(5026-5028)ttcdel	p.F1677del	CACNA1H_ENST00000565831.1_In_Frame_Del_p.F1671del|CACNA1H_ENST00000358590.4_In_Frame_Del_p.F1671del	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1677					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GTTCCGTCGGTTCTTCAAGGACA	0.621																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(5026-5028)del		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)																																			SO:0001651	inframe_deletion	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1265068_1265070delTTC	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.5026_5028delTTC	16.37:g.1265071_1265073delTTC	ENSP00000334198:p.Phe1677del					CACNA1H_ENST00000358590.4_In_Frame_Del_p.F1671del|CACNA1H_ENST00000565831.1_In_Frame_Del_p.F1671del	p.F1677del	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			28	5274_5276	+		Hepatocellular(780;0.00369)	1677					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	In_Frame_Del	DEL	ENST00000348261.5	37	c.5026_5028delTTC	CCDS45375.1																																																																																				0.621	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		10	18						10	18	---	---	---	---
YTHDF1	54915	broad.mit.edu	37	20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-TN-A7HI-01A-11D-A34J-08	TCGA-TN-A7HI-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c79dc7-ef60-45fe-b9e6-f662d4be6b65	7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gaggtg>gtg	p.E547del	YTHDF1_ENST00000370333.4_In_Frame_Del_p.E497del|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1639-1644)gtg>g		YTH domain family, member 1																																				SO:0001651	inframe_deletion	54915							g.chr20:61833650_61833652delCCT	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1640_1642delAGG	20.37:g.61833659_61833661delCCT	ENSP00000359364:p.Glu547del					YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron	p.EV547del	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	1981_1983	-			547					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	In_Frame_Del	DEL	ENST00000370339.3	37	c.1640_1642delAGG	CCDS13511.1																																																																																				0.557	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		8	256						8	256	---	---	---	---
