#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MED18	54797	broad.mit.edu	37	1	28660972	28660972	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:28660972C>T	ENST00000373842.4	+	3	327	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	MED18_ENST00000398997.2_Missense_Mutation_p.R40C|MED18_ENST00000479574.1_3'UTR	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	40						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.R40C(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCGCCTTCGTGGTTTGTG	0.478																																						uc001bpt.3																			2	Substitution - Missense(2)		lung(2)		0						c.(118-120)CGT>TGT		mediator complex subunit 18							196.0	187.0	190.0					1																	28660972		2203	4300	6503	SO:0001583	missense	54797				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding	g.chr1:28660972C>T	BC002694	CCDS322.1	1p35.3	2007-07-30	2007-07-30		ENSG00000130772	ENSG00000130772			25944	protein-coding gene	gene with protein product		612384	"""mediator of RNA polymerase II transcription, subunit 18 homolog (S. cerevisiae)"""			15175163	Standard	NM_001127350		Approved	FLJ20045, p28b	uc009vtg.3	Q9BUE0	OTTHUMG00000003537	ENST00000373842.4:c.118C>T	1.37:g.28660972C>T	ENSP00000362948:p.Arg40Cys					MED18_uc009vtg.2_Missense_Mutation_p.R40C	p.R40C	NM_017638	NP_060108	Q9BUE0	MED18_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)	3	363	+		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)	40					D3DPM1|Q9NXU9	Missense_Mutation	SNP	ENST00000373842.4	37	c.118C>T	CCDS322.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418907	0.83559	.	.	ENSG00000130772	ENST00000373842;ENST00000398997	.	.	.	5.75	3.79	0.43588	Mediator complex, subunit Med18, metazoa/fungi (1);	0.057054	0.64402	D	0.000003	T	0.77103	0.4081	M	0.73962	2.25	0.38801	D	0.955191	D	0.89917	1.0	D	0.79784	0.993	T	0.81754	-0.0788	9	0.87932	D	0	-12.1451	13.0814	0.59115	0.2908:0.7092:0.0:0.0	.	40	Q9BUE0	MED18_HUMAN	C	40	.	ENSP00000362948:R40C	R	+	1	0	MED18	28533559	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	3.440000	0.52886	1.418000	0.47098	0.655000	0.94253	CGT		PASS	0.478	MED18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009856.1	NM_017638		125	329	125	329	---	---	---	---
GRIK3	2899	broad.mit.edu	37	1	37346432	37346432	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:37346432G>T	ENST00000373091.3	-	3	369	c.353C>A	c.(352-354)aCc>aAc	p.T118N	GRIK3_ENST00000373093.4_Missense_Mutation_p.T118N	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	118					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.T118N(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GACGGCATTGGTGCAGGAGCC	0.627																																						uc001caz.2																			1	Substitution - Missense(1)	p.T118T(1)	lung(1)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(352-354)ACC>AAC		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						124.0	116.0	119.0					1																	37346432		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37346432G>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.353C>A	1.37:g.37346432G>T	ENSP00000362183:p.Thr118Asn					GRIK3_uc001cba.1_Missense_Mutation_p.T118N	p.T118N	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			3	488	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	118			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.353C>A	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578281	0.45902	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.83591	-1.74;-1.74	4.77	4.77	0.60923	Extracellular ligand-binding receptor (1);	0.065636	0.64402	D	0.000006	T	0.73024	0.3534	N	0.12182	0.205	0.43061	D	0.994681	B;B	0.22746	0.074;0.03	B;B	0.23716	0.048;0.048	T	0.72057	-0.4405	10	0.72032	D	0.01	.	18.1519	0.89677	0.0:0.0:1.0:0.0	.	118;118	A9Z1Z8;Q13003	.;GRIK3_HUMAN	N	118	ENSP00000362183:T118N;ENSP00000362185:T118N	ENSP00000362183:T118N	T	-	2	0	GRIK3	37119019	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	7.553000	0.82203	2.370000	0.80446	0.561000	0.74099	ACC		PASS	0.627	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		19	50	19	50	---	---	---	---
INPP5B	3633	broad.mit.edu	37	1	38397681	38397681	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:38397681G>C	ENST00000373026.1	-	6	436	c.436C>G	c.(436-438)Cgg>Ggg	p.R146G	INPP5B_ENST00000373021.1_Missense_Mutation_p.R146G|INPP5B_ENST00000373024.3_Missense_Mutation_p.R146G|INPP5B_ENST00000373023.2_Missense_Mutation_p.R146G|INPP5B_ENST00000373027.1_5'Flank			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	146	PH.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)	p.R146G(1)|p.R183G(1)		breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CACCTATACCGAGACAGCCAC	0.612																																						uc001ccg.1																			2	Substitution - Missense(2)		lung(2)	urinary_tract(1)	1						c.(436-438)CGG>GGG		inositol polyphosphate-5-phosphatase, 75kDa							25.0	28.0	27.0					1																	38397681		1990	4158	6148	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38397681G>C	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.436C>G	1.37:g.38397681G>C	ENSP00000362117:p.Arg146Gly					INPP5B_uc009vvk.1_Missense_Mutation_p.R87G|INPP5B_uc001cch.2_Missense_Mutation_p.R87G|INPP5B_uc001ccf.1_5'Flank	p.R146G	NM_005540	NP_005531	P32019	I5P2_HUMAN			7	530	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	146					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.436C>G		.	.	.	.	.	.	.	.	.	.	G	13.32	2.201487	0.38905	.	.	ENSG00000204084	ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024;ENST00000373021	D;D;D;T	0.94000	-3.27;-3.27;-3.33;0.54	5.0	1.9	0.25705	.	0.943966	0.08803	N	0.891419	D	0.94994	0.8380	M	0.62723	1.935	0.18873	N	0.999987	P;D;B	0.64830	0.947;0.994;0.447	P;D;B	0.64506	0.507;0.926;0.11	D	0.85349	0.1100	10	0.87932	D	0	.	7.5767	0.27939	0.0:0.1562:0.5067:0.3371	.	146;146;146	P32019;B1ARF3;P32019-2	I5P2_HUMAN;.;.	G	146	ENSP00000362114:R146G;ENSP00000362117:R146G;ENSP00000362115:R146G;ENSP00000362112:R146G	ENSP00000362112:R146G	R	-	1	2	INPP5B	38170268	0.003000	0.15002	0.100000	0.21137	0.230000	0.25150	0.423000	0.21313	0.308000	0.22923	0.563000	0.77884	CGG		PASS	0.612	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		5	69	5	69	---	---	---	---
SMAP2	64744	broad.mit.edu	37	1	40882625	40882625	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:40882625G>T	ENST00000539317.1	+	9	974	c.781G>T	c.(781-783)Ggt>Tgt	p.G261C		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	341					regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G341C(1)		central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			AGGCTATATGGGTGGCATGCA	0.577																																						uc001cfj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1021-1023)GGT>TGT		small ArfGAP2							56.0	50.0	52.0					1																	40882625		2203	4300	6503	SO:0001583	missense	64744				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding	g.chr1:40882625G>T	AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"""ADP-ribosylation factor GTPase activating proteins"""	25082	protein-coding gene	gene with protein product			"""stromal membrane-associated protein 1-like"", ""stromal membrane-associated GTPase-activating protein 2"""	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.781G>T	1.37:g.40882625G>T	ENSP00000442835:p.Gly261Cys					SMAP2_uc001cfk.2_Missense_Mutation_p.G311C|SMAP2_uc010oji.1_Missense_Mutation_p.G258C|SMAP2_uc010ojj.1_Missense_Mutation_p.G157C	p.G341C	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)		9	1086	+	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	341			Interaction with PICALM (By similarity).|Met-rich.		B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Missense_Mutation	SNP	ENST00000539317.1	37	c.1021G>T	CCDS55593.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147710	0.77888	.	.	ENSG00000084070	ENST00000372718;ENST00000372708;ENST00000539317	T;T;T	0.50548	0.74;0.74;0.74	6.17	5.27	0.74061	.	0.248267	0.46758	D	0.000274	T	0.62134	0.2403	M	0.71036	2.16	0.58432	D	0.999998	D;D	0.71674	0.998;0.997	P;P	0.57548	0.823;0.67	T	0.66416	-0.5929	10	0.62326	D	0.03	-17.8373	13.3519	0.60607	0.0754:0.0:0.9246:0.0	.	311;341	Q8WU79-2;Q8WU79	.;SMAP2_HUMAN	C	341;311;261	ENSP00000361803:G341C;ENSP00000361793:G311C;ENSP00000442835:G261C	ENSP00000361793:G311C	G	+	1	0	SMAP2	40655212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.429000	0.90280	1.632000	0.50472	0.655000	0.94253	GGT		PASS	0.577	SMAP2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022733		21	100	21	100	---	---	---	---
ZMYND12	84217	broad.mit.edu	37	1	42896432	42896432	+	Missense_Mutation	SNP	G	G	A	rs143931631	byFrequency	TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:42896432G>A	ENST00000372565.3	-	8	1342	c.1073C>T	c.(1072-1074)tCa>tTa	p.S358L	ZMYND12_ENST00000433602.2_Missense_Mutation_p.S248L|ZMYND12_ENST00000475426.1_5'Flank	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	358						intracellular (GO:0005622)	metal ion binding (GO:0046872)	p.S358L(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTCTTCAGTTGAAATGAGACT	0.453																																						uc001chj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1072-1074)TCA>TTA		zinc finger, MYND-type containing 12 isoform 1							246.0	224.0	232.0					1																	42896432		2203	4300	6503	SO:0001583	missense	84217					intracellular	zinc ion binding	g.chr1:42896432G>A	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.1073C>T	1.37:g.42896432G>A	ENSP00000361646:p.Ser358Leu					ZMYND12_uc010ojt.1_Missense_Mutation_p.S248L	p.S358L	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN			8	1343	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	358					Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	ENST00000372565.3	37	c.1073C>T	CCDS467.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594913	0.28445	.	.	ENSG00000066185	ENST00000372565;ENST00000433602	T;T	0.51574	0.7;0.7	4.93	0.659	0.17861	.	1.159010	0.06584	N	0.750765	T	0.37945	0.1022	L	0.51422	1.61	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.09377	0.004;0.001	T	0.24764	-1.0151	10	0.29301	T	0.29	4.4347	3.5873	0.07975	0.3044:0.0:0.5234:0.1722	.	248;358	E9PFV0;Q9H0C1	.;ZMY12_HUMAN	L	358;248	ENSP00000361646:S358L;ENSP00000398340:S248L	ENSP00000361646:S358L	S	-	2	0	ZMYND12	42669019	0.134000	0.22483	0.000000	0.03702	0.015000	0.08874	0.693000	0.25497	0.030000	0.15379	0.591000	0.81541	TCA		PASS	0.453	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		59	216	59	216	---	---	---	---
ZFYVE9	9372	broad.mit.edu	37	1	52703393	52703393	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:52703393A>G	ENST00000371591.1	+	3	435	c.304A>G	c.(304-306)Aca>Gca	p.T102A	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.T102A|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.T102A	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	102					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.T102A(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AGAGATTGCCACAATGTGGAT	0.438																																						uc001cto.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(304-306)ACA>GCA		zinc finger, FYVE domain containing 9 isoform 3							85.0	85.0	85.0					1																	52703393		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52703393A>G	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.304A>G	1.37:g.52703393A>G	ENSP00000360647:p.Thr102Ala					ZFYVE9_uc001ctn.2_Missense_Mutation_p.T102A|ZFYVE9_uc001ctp.2_Missense_Mutation_p.T102A	p.T102A	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			4	476	+			102					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.304A>G	CCDS563.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.684616	0.29872	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.53423	1.1;0.62;1.11;1.11	5.77	3.47	0.39725	.	0.440513	0.21179	N	0.078848	T	0.38665	0.1049	N	0.19112	0.55	0.23003	N	0.99845	B;B;D	0.55385	0.4;0.278;0.971	B;B;P	0.50659	0.173;0.084;0.647	T	0.11817	-1.0572	10	0.39692	T	0.17	.	8.6063	0.33775	0.7802:0.0:0.2198:0.0	.	102;102;102	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	A	102	ENSP00000349737:T102A;ENSP00000355358:T102A;ENSP00000287727:T102A;ENSP00000360647:T102A	ENSP00000287727:T102A	T	+	1	0	ZFYVE9	52475981	0.889000	0.30405	1.000000	0.80357	0.999000	0.98932	1.696000	0.37773	1.009000	0.39289	0.533000	0.62120	ACA		PASS	0.438	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		42	136	42	136	---	---	---	---
KANK4	163782	broad.mit.edu	37	1	62740491	62740491	+	Silent	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:62740491C>A	ENST00000371153.4	-	3	663	c.285G>T	c.(283-285)gtG>gtT	p.V95V	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	95						cytoplasm (GO:0005737)		p.V95V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCTCCCTTGGCACCACGGGAG	0.607																																						uc001dah.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|lung(1)	6						c.(283-285)GTG>GTT		ankyrin repeat domain 38							61.0	70.0	67.0					1																	62740491		2203	4300	6503	SO:0001819	synonymous_variant	163782							g.chr1:62740491C>A	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.285G>T	1.37:g.62740491C>A						KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	p.V95V	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			3	662	-			95					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	ENST00000371153.4	37	c.285G>T	CCDS620.1																																																																																				PASS	0.607	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		4	181	4	181	---	---	---	---
LEPROT	54741	broad.mit.edu	37	1	65895721	65895721	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:65895721G>A	ENST00000371065.4	+	3	407	c.269G>A	c.(268-270)cGt>cAt	p.R90H	LEPROT_ENST00000484243.1_3'UTR|LEPR_ENST00000371059.3_Intron|LEPR_ENST00000371060.3_Intron|LEPR_ENST00000344610.8_Intron|LEPR_ENST00000349533.6_Intron|LEPR_ENST00000406510.3_Intron	NM_001198681.1|NM_017526.4	NP_001185610.1|NP_059996.1	O15243	OBRG_HUMAN	leptin receptor overlapping transcript	90					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.R90H(1)		kidney(1)|large_intestine(1)|lung(5)	7				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATTCTTGCTCGTGTGGCTGTG	0.433																																						uc001dcf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(268-270)CGT>CAT		leptin receptor gene-related protein							344.0	332.0	336.0					1																	65895721		2203	4300	6503	SO:0001583	missense	54741					endosome membrane|Golgi membrane|integral to plasma membrane		g.chr1:65895721G>A	Y12670	CCDS630.1, CCDS72801.1	1p31.2	2008-02-05			ENSG00000213625	ENSG00000213625			29477	protein-coding gene	gene with protein product	"""leptin receptor gene related protein"""	613461				9207021	Standard	NM_001198681		Approved	OBRGRP, OB-RGRP, VPS55, FLJ90360	uc001dcf.3	O15243	OTTHUMG00000009065	ENST00000371065.4:c.269G>A	1.37:g.65895721G>A	ENSP00000360104:p.Arg90His					LEPR_uc001dcg.2_Intron|LEPR_uc001dch.2_Intron|LEPR_uc001dci.2_Intron|LEPR_uc009waq.2_Intron|LEPROT_uc009wap.2_Missense_Mutation_p.R99H	p.R90H	NM_017526	NP_059996	O15243	OBRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	3	358	+			90					Q6FHL5	Missense_Mutation	SNP	ENST00000371065.4	37	c.269G>A	CCDS630.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753431	0.69648	.	.	ENSG00000213625	ENST00000371065	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	U	0.000000	T	0.67767	0.2928	L	0.35593	1.075	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.70346	-0.4897	9	0.87932	D	0	-11.4278	20.2625	0.98452	0.0:0.0:1.0:0.0	.	90	O15243	OBRG_HUMAN	H	90	.	ENSP00000360104:R90H	R	+	2	0	LEPROT	65668309	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	9.476000	0.97823	2.782000	0.95742	0.557000	0.71058	CGT		PASS	0.433	LEPROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025132.4	NM_017526		106	514	106	514	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70505002	70505002	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:70505002G>T	ENST00000035383.5	+	19	3411	c.3381G>T	c.(3379-3381)atG>atT	p.M1127I	LRRC7_ENST00000310961.5_Missense_Mutation_p.M1132I|LRRC7_ENST00000415775.2_Missense_Mutation_p.M411I	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1127						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.M1127I(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAATGGCCATGTTTAGAAGGG	0.587																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(3379-3381)ATG>ATT		leucine rich repeat containing 7							78.0	81.0	80.0					1																	70505002		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70505002G>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3381G>T	1.37:g.70505002G>T	ENSP00000035383:p.Met1127Ile					LRRC7_uc009wbg.2_Missense_Mutation_p.M411I|LRRC7_uc001deq.2_Missense_Mutation_p.M368I	p.M1127I	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	3411	+			1127					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.3381G>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	5.797	0.331347	0.10956	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.37235	1.21;1.28;2.38	5.84	4.92	0.64577	.	0.210131	0.48767	D	0.000162	T	0.19805	0.0476	L	0.47716	1.5	0.43913	D	0.996554	B;B;B	0.32573	0.376;0.001;0.07	B;B;B	0.30401	0.115;0.006;0.016	T	0.03231	-1.1058	10	0.39692	T	0.17	.	16.0918	0.81094	0.0:0.134:0.866:0.0	.	411;1127;1127	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	I	1132;1127;411;950	ENSP00000309245:M1132I;ENSP00000035383:M1127I;ENSP00000394867:M411I	ENSP00000035383:M1127I	M	+	3	0	LRRC7	70277590	1.000000	0.71417	0.996000	0.52242	0.003000	0.03518	5.234000	0.65343	1.455000	0.47813	-0.182000	0.12963	ATG		PASS	0.587	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		54	229	54	229	---	---	---	---
ST6GALNAC3	256435	broad.mit.edu	37	1	76779598	76779598	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:76779598C>T	ENST00000328299.3	+	2	275	c.127C>T	c.(127-129)Cct>Tct	p.P43S	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	43					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)	p.P43S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CTTTGGACAACCTGGTACAAA	0.448																																						uc001dhh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(127-129)CCT>TCT		sialyltransferase 7C isoform 1							205.0	178.0	187.0					1																	76779598		2203	4300	6503	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76779598C>T		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.127C>T	1.37:g.76779598C>T	ENSP00000329214:p.Pro43Ser					ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.P43S|ST6GALNAC3_uc010orh.1_Intron	p.P43S	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN			2	290	+			43			Lumenal (Potential).		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.127C>T	CCDS672.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291426	0.23564	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993	T	0.28069	1.63	5.12	3.21	0.36854	.	0.663946	0.14950	N	0.288996	T	0.05593	0.0147	N	0.08118	0	0.28227	N	0.926275	B;B	0.12013	0.001;0.005	B;B	0.09377	0.001;0.004	T	0.24693	-1.0153	10	0.36615	T	0.2	-33.7036	6.853	0.24024	0.1667:0.6944:0.0:0.1389	.	43;43	Q8NDV1;Q8NDV1-2	SIA7C_HUMAN;.	S	43;43;42	ENSP00000329214:P43S	ENSP00000329214:P43S	P	+	1	0	ST6GALNAC3	76552186	0.998000	0.40836	0.981000	0.43875	0.933000	0.57130	0.947000	0.29082	2.374000	0.81015	0.491000	0.48974	CCT		PASS	0.448	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		6	181	6	181	---	---	---	---
ELTD1	64123	broad.mit.edu	37	1	79387437	79387437	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:79387437C>T	ENST00000370742.3	-	9	1181	c.1118G>A	c.(1117-1119)tGg>tAg	p.W373*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	373	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.W373*(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGAGTAATTCCAAAATGCACA	0.398																																						uc001diq.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1117-1119)TGG>TAG		EGF, latrophilin and seven transmembrane domain							119.0	112.0	114.0					1																	79387437		1945	4137	6082	SO:0001587	stop_gained	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79387437C>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1118G>A	1.37:g.79387437C>T	ENSP00000359778:p.Trp373*						p.W373*	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	9	1274	-			373			GPS.|Extracellular (Potential).		B1AR71|Q5KU34	Nonsense_Mutation	SNP	ENST00000370742.3	37	c.1118G>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519018	0.85495	.	.	ENSG00000162618	ENST00000370742	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6784	0.95946	0.0:1.0:0.0:0.0	.	.	.	.	X	373	.	.	W	-	2	0	ELTD1	79160025	1.000000	0.71417	1.000000	0.80357	0.136000	0.21042	7.583000	0.82559	2.724000	0.93272	0.585000	0.79938	TGG		PASS	0.398	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		19	103	19	103	---	---	---	---
VCAM1	7412	broad.mit.edu	37	1	101186048	101186048	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:101186048C>G	ENST00000294728.2	+	2	182	c.81C>G	c.(79-81)atC>atG	p.I27M	VCAM1_ENST00000347652.2_Missense_Mutation_p.I27M|VCAM1_ENST00000370115.1_Missense_Mutation_p.I27M|VCAM1_ENST00000370119.4_Missense_Mutation_p.I27M	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	27	Ig-like C2-type 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.I27M(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTTTTAAAATCGAGACCACCC	0.408																																						uc001dti.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(79-81)ATC>ATG		vascular cell adhesion molecule 1 isoform a	Carvedilol(DB01136)						79.0	84.0	82.0					1																	101186048		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101186048C>G	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.81C>G	1.37:g.101186048C>G	ENSP00000294728:p.Ile27Met					VCAM1_uc001dtj.2_Missense_Mutation_p.I27M|VCAM1_uc010ouj.1_Missense_Mutation_p.I27M	p.I27M	NM_001078	NP_001069	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	2	201	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	27			Ig-like C2-type 1.|Extracellular (Potential).		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.81C>G	CCDS773.1	.	.	.	.	.	.	.	.	.	.	C	5.407	0.260224	0.10239	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.65364	-0.15;-0.02;0.82;0.82	5.82	-9.54	0.00572	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.396140	0.30762	N	0.008926	T	0.16257	0.0391	N	0.19112	0.55	0.20703	N	0.999862	B;P;B	0.36577	0.39;0.558;0.036	B;B;B	0.36335	0.056;0.222;0.152	T	0.11817	-1.0572	10	0.49607	T	0.09	-2.8874	6.0919	0.19999	0.0795:0.1011:0.2801:0.5394	.	27;27;27	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	M	27	ENSP00000359137:I27M;ENSP00000304611:I27M;ENSP00000294728:I27M;ENSP00000359133:I27M	ENSP00000294728:I27M	I	+	3	3	VCAM1	100958636	0.000000	0.05858	0.043000	0.18650	0.314000	0.28054	-2.764000	0.00784	-1.900000	0.01097	-0.165000	0.13383	ATC		PASS	0.408	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		50	214	50	214	---	---	---	---
OLFM3	118427	broad.mit.edu	37	1	102296361	102296361	+	Missense_Mutation	SNP	A	A	T	rs150051854	byFrequency	TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:102296361A>T	ENST00000338858.5	-	3	298	c.299T>A	c.(298-300)aTt>aAt	p.I100N	OLFM3_ENST00000359814.3_Missense_Mutation_p.I100N|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_Missense_Mutation_p.I5N|OLFM3_ENST00000370103.4_Missense_Mutation_p.I80N			Q96PB7	NOE3_HUMAN	olfactomedin 3	100					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.I80N(1)|p.I100N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TAAGACTTCAATAGACTGGGA	0.353																																						uc001duf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(298-300)ATT>AAT		olfactomedin 3							104.0	105.0	105.0					1																	102296361		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102296361A>T	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.299T>A	1.37:g.102296361A>T	ENSP00000345192:p.Ile100Asn					OLFM3_uc001dug.2_Missense_Mutation_p.I80N|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.I5N|OLFM3_uc001due.2_RNA	p.I100N	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	3	370	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	100			Potential.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.299T>A		.	.	.	.	.	.	.	.	.	.	A	24.9	4.583130	0.86748	.	.	ENSG00000118733	ENST00000370103;ENST00000338858;ENST00000536598;ENST00000359814	D;D;T;T	0.91945	-2.94;-2.94;0.69;0.69	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.94512	0.8233	M	0.68952	2.095	0.54753	D	0.999981	D;D	0.69078	0.997;0.99	D;P	0.68943	0.961;0.798	D	0.95219	0.8332	10	0.87932	D	0	.	16.1116	0.81266	1.0:0.0:0.0:0.0	.	80;100	Q5T3V6;Q96PB7	.;NOE3_HUMAN	N	80;100;5;100	ENSP00000359121:I80N;ENSP00000345192:I100N;ENSP00000443471:I5N;ENSP00000352867:I100N	ENSP00000345192:I100N	I	-	2	0	OLFM3	102068949	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.255000	0.95524	2.270000	0.75569	0.477000	0.44152	ATT		PASS	0.353	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			31	135	31	135	---	---	---	---
CASQ2	845	broad.mit.edu	37	1	116244008	116244008	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:116244008G>T	ENST00000261448.5	-	11	1293	c.1054C>A	c.(1054-1056)Ctt>Att	p.L352I	CASQ2_ENST00000456138.2_Missense_Mutation_p.L281I	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	352					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.L352I(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GCAGTTGGAAGATCGTCATCA	0.458																																						uc001efx.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1054-1056)CTT>ATT		cardiac calsequestrin 2 precursor							124.0	101.0	109.0					1																	116244008		2203	4300	6503	SO:0001583	missense	845				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr1:116244008G>T	BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.1054C>A	1.37:g.116244008G>T	ENSP00000261448:p.Leu352Ile					CASQ2_uc010owu.1_Missense_Mutation_p.L281I	p.L352I	NM_001232	NP_001223	O14958	CASQ2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	11	1318	-	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)	352					B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	ENST00000261448.5	37	c.1054C>A	CCDS884.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803738	0.70682	.	.	ENSG00000118729	ENST00000261448;ENST00000456138;ENST00000446755	T;T	0.79940	-1.32;-1.32	6.16	4.29	0.51040	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.84320	0.5446	M	0.83953	2.67	0.58432	D	0.999998	D;P	0.55172	0.97;0.887	P;P	0.58970	0.846;0.849	D	0.84586	0.0664	10	0.37606	T	0.19	-14.0643	13.0032	0.58687	0.133:0.0:0.867:0.0	.	281;352	B4DIB0;O14958	.;CASQ2_HUMAN	I	352;281;306	ENSP00000261448:L352I;ENSP00000403858:L281I	ENSP00000261448:L352I	L	-	1	0	CASQ2	116045531	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	5.354000	0.66040	1.627000	0.50400	0.650000	0.86243	CTT		PASS	0.458	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	NM_001232		14	112	14	112	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152187662	152187662	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:152187662C>A	ENST00000368801.2	-	3	6518	c.6443G>T	c.(6442-6444)cGa>cTa	p.R2148L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2148					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R2148L(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATCCGTGTCGTTCACCCCT	0.587																																						uc001ezt.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(6442-6444)CGA>CTA		hornerin							266.0	302.0	290.0					1																	152187662		2198	4276	6474	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187662C>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6443G>T	1.37:g.152187662C>A	ENSP00000357791:p.Arg2148Leu						p.R2148L	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6519	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2148					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6443G>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	6.261	0.416238	0.11870	.	.	ENSG00000197915	ENST00000368801	T	0.01854	4.6	3.06	-3.05	0.05396	.	.	.	.	.	T	0.00468	0.0015	N	0.22421	0.69	0.09310	N	1	B	0.29646	0.253	B	0.23275	0.045	T	0.43972	-0.9358	9	0.28530	T	0.3	.	5.2614	0.15576	0.0:0.4602:0.187:0.3528	.	2148	Q86YZ3	HORN_HUMAN	L	2148	ENSP00000357791:R2148L	ENSP00000357791:R2148L	R	-	2	0	HRNR	150454286	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.815000	0.04481	-0.505000	0.06568	-1.252000	0.01501	CGA		PASS	0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		30	696	30	696	---	---	---	---
FCRL1	115350	broad.mit.edu	37	1	157772324	157772324	+	Silent	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:157772324C>A	ENST00000368176.3	-	4	517	c.450G>T	c.(448-450)ggG>ggT	p.G150G	FCRL1_ENST00000358292.3_Silent_p.G150G|FCRL1_ENST00000491942.1_Silent_p.G150G|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	150	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G150G(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AACCTACAGCCCCTTTGTACC	0.517																																					GBM(54;482 1003 11223 30131 35730)	uc001frg.2																			2	Substitution - coding silent(2)		lung(2)	skin(4)|ovary(3)	7						c.(448-450)GGG>GGT		Fc receptor-like 1 isoform 1 precursor							106.0	90.0	95.0					1																	157772324		2203	4300	6503	SO:0001819	synonymous_variant	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157772324C>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.450G>T	1.37:g.157772324C>A						FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Silent_p.G150G|FCRL1_uc001fri.2_Silent_p.G150G|FCRL1_uc001frj.2_Intron	p.G150G	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	563	-	all_hematologic(112;0.0378)		150			Ig-like C2-type 2.|Extracellular (Potential).		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Silent	SNP	ENST00000368176.3	37	c.450G>T	CCDS1170.1																																																																																				PASS	0.517	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		40	107	40	107	---	---	---	---
PVRL4	81607	broad.mit.edu	37	1	161049520	161049520	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:161049520T>A	ENST00000368012.3	-	2	601	c.299A>T	c.(298-300)cAg>cTg	p.Q100L		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	100	Ig-like V-type 1.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q100L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGGCGGCGGCTGCTCCACGCG	0.692																																					NSCLC(76;1160 1387 14476 16172 29359)	uc001fxo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(298-300)CAG>CTG		poliovirus receptor-related 4 precursor							21.0	23.0	22.0					1																	161049520		2166	4266	6432	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161049520T>A	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.299A>T	1.37:g.161049520T>A	ENSP00000356991:p.Gln100Leu						p.Q100L	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		2	598	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		100			Ig-like V-type 1.|Extracellular (Potential).		B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.299A>T	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.885858	0.33348	.	.	ENSG00000143217	ENST00000368012	T	0.60672	0.17	5.51	1.7	0.24286	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.236194	0.30483	N	0.009521	T	0.04770	0.0129	N	0.00621	-1.32	0.20638	N	0.999872	B	0.12013	0.005	B	0.09377	0.004	T	0.44528	-0.9322	10	0.02654	T	1	.	4.0177	0.09652	0.1588:0.1884:0.0:0.6529	.	100	Q96NY8	PVRL4_HUMAN	L	100	ENSP00000356991:Q100L	ENSP00000356991:Q100L	Q	-	2	0	PVRL4	159316144	0.998000	0.40836	0.954000	0.39281	0.976000	0.68499	0.540000	0.23191	0.927000	0.37143	0.528000	0.53228	CAG		PASS	0.692	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		13	25	13	25	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190203572	190203572	+	Missense_Mutation	SNP	A	A	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:190203572A>T	ENST00000367462.3	-	5	885	c.654T>A	c.(652-654)agT>agA	p.S218R	BRINP3_ENST00000534846.1_Missense_Mutation_p.S116R	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	218	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.S218R(1)									TGTCATAGTTACTGCAGCCAA	0.373																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(652-654)AGT>AGA		family with sequence similarity 5, member C							139.0	120.0	127.0					1																	190203572		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190203572A>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.654T>A	1.37:g.190203572A>T	ENSP00000356432:p.Ser218Arg					FAM5C_uc010pot.1_Missense_Mutation_p.S116R	p.S218R	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			5	886	-	Prostate(682;0.198)		218					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.654T>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.420008	0.62622	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.22945	2.16;1.93	5.87	5.87	0.94306	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.49423	0.1556	M	0.69358	2.11	0.58432	D	0.999998	D;D	0.69078	0.997;0.995	D;D	0.75484	0.986;0.969	T	0.50499	-0.8821	10	0.72032	D	0.01	.	14.2151	0.65788	1.0:0.0:0.0:0.0	.	116;218	B7Z260;Q76B58	.;FAM5C_HUMAN	R	218;116	ENSP00000356432:S218R;ENSP00000438022:S116R	ENSP00000356432:S218R	S	-	3	2	FAM5C	188470195	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.259000	0.72494	2.239000	0.73571	0.528000	0.53228	AGT		PASS	0.373	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		43	110	43	110	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197390731	197390731	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:197390731C>A	ENST00000367400.3	+	6	1908	c.1773C>A	c.(1771-1773)tgC>tgA	p.C591*	CRB1_ENST00000535699.1_Nonsense_Mutation_p.C522*|CRB1_ENST00000367399.2_Nonsense_Mutation_p.C479*|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000544212.1_Nonsense_Mutation_p.C72*|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000538660.1_Nonsense_Mutation_p.C591*	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	591	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C591*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGGAGAAATGCATCGCGAAAG	0.463																																						uc001gtz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(1771-1773)TGC>TGA		crumbs homolog 1 precursor							120.0	114.0	116.0					1																	197390731		2203	4300	6503	SO:0001587	stop_gained	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390731C>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1773C>A	1.37:g.197390731C>A	ENSP00000356370:p.Cys591*					CRB1_uc010poz.1_Nonsense_Mutation_p.C522*|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Nonsense_Mutation_p.C479*|CRB1_uc010ppb.1_Nonsense_Mutation_p.C591*|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Nonsense_Mutation_p.C72*|CRB1_uc001gub.1_Nonsense_Mutation_p.C240*	p.C591*	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	1908	+			591			Extracellular (Potential).|Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Nonsense_Mutation	SNP	ENST00000367400.3	37	c.1773C>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406129	0.62288	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367401	.	.	.	5.84	0.00335	0.14054	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.83	0.35078	0.0:0.2734:0.0:0.7266	.	.	.	.	X	522;591;591;479;72;240	.	ENSP00000356369:C479X	C	+	3	2	CRB1	195657354	0.995000	0.38212	0.006000	0.13384	0.014000	0.08584	1.792000	0.38754	0.081000	0.16988	0.557000	0.71058	TGC		PASS	0.463	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		11	229	11	229	---	---	---	---
IRF6	3664	broad.mit.edu	37	1	209969720	209969720	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:209969720G>A	ENST00000367021.3	-	4	524	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	IRF6_ENST00000542854.1_Nonsense_Mutation_p.Q23*	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	118					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q118*(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CCCTGGGGCTGAGGGATGTCA	0.522										HNSCC(57;0.16)																												uc001hhq.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2	GRCh37	CM022392	IRF6	M		c.(352-354)CAG>TAG		interferon regulatory factor 6							107.0	98.0	101.0					1																	209969720		2203	4300	6503	SO:0001587	stop_gained	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209969720G>A	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.352C>T	1.37:g.209969720G>A	ENSP00000355988:p.Gln118*	HNSCC(57;0.16)				IRF6_uc010psm.1_Nonsense_Mutation_p.Q23*|IRF6_uc009xct.1_Nonsense_Mutation_p.Q118*	p.Q118*	NM_006147	NP_006138	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	4	615	-			118					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Nonsense_Mutation	SNP	ENST00000367021.3	37	c.352C>T	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	G	38	6.918159	0.97932	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	.	.	.	5.63	5.63	0.86233	.	0.546045	0.20684	N	0.087600	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.32	0.94234	0.0:0.0:1.0:0.0	.	.	.	.	X	118;23;118	.	.	Q	-	1	0	IRF6	208036343	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.129000	0.77225	2.652000	0.90054	0.655000	0.94253	CAG		PASS	0.522	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		29	85	29	85	---	---	---	---
B3GALNT2	148789	broad.mit.edu	37	1	235617588	235617588	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:235617588C>G	ENST00000366600.3	-	10	1419	c.1191G>C	c.(1189-1191)tgG>tgC	p.W397C		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	397					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)	p.W397C(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CCAACTCCTGCCACTTTCCGG	0.498																																						uc001hxc.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1189-1191)TGG>TGC		beta-1,3-N-acetylgalactosaminyltransferase 2							72.0	68.0	69.0					1																	235617588		2203	4300	6503	SO:0001583	missense	148789				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr1:235617588C>G	BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"""Beta 3-glycosyltransferases"""	28596	protein-coding gene	gene with protein product		610194	"""UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"""			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.1191G>C	1.37:g.235617588C>G	ENSP00000355559:p.Trp397Cys						p.W397C	NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000117)		10	1420	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	397			Lumenal (Potential).		Q59GR3|Q5TCI3|Q96AL7	Missense_Mutation	SNP	ENST00000366600.3	37	c.1191G>C	CCDS1606.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915150	0.92178	.	.	ENSG00000162885	ENST00000366600	T	0.70749	-0.51	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.88804	0.6536	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90365	0.4376	10	0.87932	D	0	-11.6201	20.3398	0.98759	0.0:1.0:0.0:0.0	.	397	Q8NCR0	B3GL2_HUMAN	C	397	ENSP00000355559:W397C	ENSP00000355559:W397C	W	-	3	0	B3GALNT2	233684211	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.440000	0.80464	2.811000	0.96726	0.557000	0.71058	TGG		PASS	0.498	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	NM_152490		8	107	8	107	---	---	---	---
ZNF496	84838	broad.mit.edu	37	1	247471832	247471832	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:247471832C>A	ENST00000294753.4	-	8	1415	c.951G>T	c.(949-951)caG>caT	p.Q317H	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.Q353H	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	317					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Q317H(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ACTCTGGCACCTGCAGCTCCT	0.512																																						uc001ico.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(949-951)CAG>CAT		zinc finger protein 496							199.0	177.0	184.0					1																	247471832		2203	4300	6503	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247471832C>A	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.951G>T	1.37:g.247471832C>A	ENSP00000294753:p.Gln317His					ZNF496_uc009xgv.2_Missense_Mutation_p.Q353H|ZNF496_uc001icp.2_Missense_Mutation_p.Q317H|ZNF496_uc001icq.1_Missense_Mutation_p.Q92H	p.Q317H	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		8	1416	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		317					Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.951G>T	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385724	0.25031	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.07114	3.22;3.22	3.56	0.527	0.17084	.	0.568977	0.14725	N	0.302114	T	0.08537	0.0212	N	0.24115	0.695	0.21527	N	0.999656	D;P	0.54207	0.965;0.94	P;B	0.54312	0.748;0.367	T	0.23868	-1.0176	10	0.41790	T	0.15	-22.8378	3.6224	0.08100	0.0:0.5504:0.2103:0.2393	.	353;317	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	H	317;353	ENSP00000294753:Q317H;ENSP00000355454:Q353H	ENSP00000294753:Q317H	Q	-	3	2	ZNF496	245538455	0.989000	0.36119	0.414000	0.26521	0.165000	0.22458	0.844000	0.27654	0.115000	0.18071	0.462000	0.41574	CAG		PASS	0.512	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		90	241	90	241	---	---	---	---
OR2G2	81470	broad.mit.edu	37	1	247752411	247752411	+	Silent	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:247752411G>A	ENST00000320065.1	+	1	750	c.750G>A	c.(748-750)gtG>gtA	p.V250V	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V250V(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ACCTGacagtggtcaccatct	0.507																																						uc010pyy.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(748-750)GTG>GTA		olfactory receptor, family 2, subfamily G,							143.0	126.0	132.0					1																	247752411		2203	4300	6503	SO:0001819	synonymous_variant	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752411G>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.750G>A	1.37:g.247752411G>A							p.V250V	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	750	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		250			Helical; Name=6; (Potential).		Q5JQT2|Q6IEZ0	Silent	SNP	ENST00000320065.1	37	c.750G>A	CCDS31092.1																																																																																				PASS	0.507	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			15	177	15	177	---	---	---	---
OR2L3	391192	broad.mit.edu	37	1	248224406	248224406	+	Silent	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr1:248224406G>T	ENST00000359959.3	+	1	423	c.423G>T	c.(421-423)gtG>gtT	p.V141V	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V141V(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GAATGTGTGTGCTGATGATAA	0.438																																						uc001idx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(421-423)GTG>GTT		olfactory receptor, family 2, subfamily L,							238.0	251.0	247.0					1																	248224406		2203	4300	6503	SO:0001819	synonymous_variant	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224406G>T	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.423G>T	1.37:g.248224406G>T						OR2L13_uc001ids.2_Intron	p.V141V	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	423	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		141			Helical; Name=4; (Potential).		B9EH44	Silent	SNP	ENST00000359959.3	37	c.423G>T	CCDS31104.1																																																																																				PASS	0.438	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		86	272	86	272	---	---	---	---
ADCY3	109	broad.mit.edu	37	2	25061400	25061400	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr2:25061400C>A	ENST00000260600.5	-	7	2298	c.1447G>T	c.(1447-1449)Gaa>Taa	p.E483*	ADCY3_ENST00000405392.1_Nonsense_Mutation_p.E116*	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	483					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)|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)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.E483*(1)		NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCCTTCTCTTCTAGGTAATCA	0.562																																						uc002rfs.3																			1	Substitution - Nonsense(1)		lung(1)	breast(3)|ovary(1)	4						c.(1447-1449)GAA>TAA		adenylate cyclase 3							175.0	168.0	171.0					2																	25061400		2203	4300	6503	SO:0001587	stop_gained	109				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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25061400C>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1447G>T	2.37:g.25061400C>A	ENSP00000260600:p.Glu483*					ADCY3_uc002rfr.3_Nonsense_Mutation_p.E116*|ADCY3_uc010ykm.1_Nonsense_Mutation_p.E483*	p.E483*	NM_004036	NP_004027	O60266	ADCY3_HUMAN			7	1646	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		483			Cytoplasmic (Potential).		B3KT86|Q53T54|Q9UDB1	Nonsense_Mutation	SNP	ENST00000260600.5	37	c.1447G>T	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187640	0.57909	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000454027;ENST00000427849;ENST00000435135	.	.	.	4.77	4.77	0.60923	.	0.863636	0.10598	N	0.656035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.0588	0.19826	0.0:0.7724:0.0:0.2276	.	.	.	.	X	483;116;458;109;239;433	.	ENSP00000260600:E483X	E	-	1	0	ADCY3	24914904	0.212000	0.23540	0.162000	0.22713	0.695000	0.40330	2.344000	0.44010	2.452000	0.82932	0.655000	0.94253	GAA		PASS	0.562	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			51	243	51	243	---	---	---	---
DRC1	92749	broad.mit.edu	37	2	26654794	26654794	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr2:26654794G>C	ENST00000288710.2	+	7	882	c.808G>C	c.(808-810)Gag>Cag	p.E270Q	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	270					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.E270Q(1)									AGAGGACTATGAGAAGCAGCT	0.493																																						uc002rhg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(808-810)GAG>CAG		hypothetical protein LOC92749							149.0	138.0	142.0					2																	26654794		2203	4300	6503	SO:0001583	missense	92749							g.chr2:26654794G>C	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.808G>C	2.37:g.26654794G>C	ENSP00000288710:p.Glu270Gln					C2orf39_uc010eym.1_RNA	p.E270Q	NM_145038	NP_659475	Q96MC2	CC164_HUMAN			7	882	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		270			Potential.		A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	c.808G>C	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332677	0.60853	.	.	ENSG00000157856	ENST00000288710;ENST00000442810	T	0.16597	2.33	5.65	5.65	0.86999	.	0.049687	0.85682	D	0.000000	T	0.33498	0.0865	L	0.57536	1.79	0.30475	N	0.772888	D	0.71674	0.998	P	0.61874	0.895	T	0.11690	-1.0577	10	0.25106	T	0.35	-40.0457	14.7434	0.69472	0.0:0.1454:0.8546:0.0	.	270	Q96MC2	CC164_HUMAN	Q	270;99	ENSP00000288710:E270Q	ENSP00000288710:E270Q	E	+	1	0	CCDC164	26508298	1.000000	0.71417	0.987000	0.45799	0.527000	0.34593	5.286000	0.65639	2.659000	0.90383	0.655000	0.94253	GAG		PASS	0.493	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		50	164	50	164	---	---	---	---
ABCG5	64240	broad.mit.edu	37	2	44051083	44051083	+	Silent	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr2:44051083C>A	ENST00000260645.1	-	9	1432	c.1293G>T	c.(1291-1293)ccG>ccT	p.P431P	ABCG5_ENST00000543989.1_Silent_p.P36P|ABCG5_ENST00000405322.1_Silent_p.P260P	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	431	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)	p.P431P(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TGCCTGTGTACGGGGTGGCGC	0.537																																						uc002rtn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1291-1293)CCG>CCT		ATP-binding cassette sub-family G member 5							88.0	71.0	77.0					2																	44051083		2203	4300	6503	SO:0001819	synonymous_variant	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44051083C>A	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1293G>T	2.37:g.44051083C>A						ABCG5_uc002rtm.2_Silent_p.P36P|ABCG5_uc002rto.2_Silent_p.P260P|ABCG5_uc002rtp.2_Silent_p.P36P	p.P431P	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN			9	1433	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	431			Helical; Name=2; (Potential).|ABC transmembrane type-2.		Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	ENST00000260645.1	37	c.1293G>T	CCDS1814.1																																																																																				PASS	0.537	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		15	115	15	115	---	---	---	---
MPHOSPH10	10199	broad.mit.edu	37	2	71360216	71360216	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr2:71360216A>G	ENST00000244230.2	+	2	630	c.278A>G	c.(277-279)aAt>aGt	p.N93S	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.N93S|MCEE_ENST00000244217.5_5'Flank|MPHOSPH10_ENST00000468427.1_3'UTR	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	93					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)	p.N93S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						TACTTTCAGAATGCAGTTAGT	0.383																																						uc002sht.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(277-279)AAT>AGT		M-phase phosphoprotein 10							52.0	51.0	51.0					2																	71360216		2203	4300	6503	SO:0001583	missense	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71360216A>G	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.278A>G	2.37:g.71360216A>G	ENSP00000244230:p.Asn93Ser					MCEE_uc002shs.2_5'Flank|MPHOSPH10_uc010feb.1_Missense_Mutation_p.N93S	p.N93S	NM_005791	NP_005782	O00566	MPP10_HUMAN			2	630	+			93					A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.278A>G	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	A	5.538	0.284090	0.10513	.	.	ENSG00000124383	ENST00000244230	T	0.09723	2.95	4.99	-3.0	0.05480	.	0.843931	0.11012	N	0.609343	T	0.05456	0.0144	N	0.12182	0.205	0.18873	N	0.999988	B;B	0.16166	0.016;0.003	B;B	0.15052	0.012;0.008	T	0.42050	-0.9474	10	0.23302	T	0.38	.	10.9872	0.47528	0.5254:0.0:0.4746:0.0	.	93;93	B3KPV5;O00566	.;MPP10_HUMAN	S	93	ENSP00000244230:N93S	ENSP00000244230:N93S	N	+	2	0	MPHOSPH10	71213724	0.416000	0.25424	0.000000	0.03702	0.945000	0.59286	1.024000	0.30077	-0.485000	0.06754	0.454000	0.30748	AAT		PASS	0.383	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		11	75	11	75	---	---	---	---
REV1	51455	broad.mit.edu	37	2	100019492	100019492	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr2:100019492A>G	ENST00000258428.3	-	20	3472	c.3244T>C	c.(3244-3246)Tca>Cca	p.S1082P	REV1_ENST00000465835.1_5'Flank|RP11-527J8.1_ENST00000608144.1_RNA|REV1_ENST00000393445.3_Missense_Mutation_p.S1081P	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1082					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.S1082P(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTTTTGGTGAACCAATGGtt	0.403								Direct reversal of damage																														uc002tad.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3244-3246)TCA>CCA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	REV1-like isoform 1							86.0	81.0	83.0					2																	100019492		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100019492A>G	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.3244T>C	2.37:g.100019492A>G	ENSP00000258428:p.Ser1082Pro					REV1_uc002tac.2_Missense_Mutation_p.S1081P	p.S1082P	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN			20	3456	-			1082					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.3244T>C	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	A	2.149	-0.394950	0.04899	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.27890	1.64;1.64	5.95	-0.197	0.13228	.	0.246314	0.49305	N	0.000160	T	0.07052	0.0179	N	0.00500	-1.43	0.41077	D	0.985496	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.19418	-1.0306	10	0.29301	T	0.29	.	5.4439	0.16524	0.3454:0.0:0.5252:0.1294	.	1082;1081	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	P	1081;1082	ENSP00000377091:S1081P;ENSP00000258428:S1082P	ENSP00000258428:S1082P	S	-	1	0	REV1	99385924	1.000000	0.71417	0.007000	0.13788	0.006000	0.05464	1.260000	0.32968	-0.351000	0.08249	-1.216000	0.01612	TCA		PASS	0.403	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		11	116	11	116	---	---	---	---
MAP4K4	9448	broad.mit.edu	37	2	102460737	102460737	+	Silent	SNP	T	T	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr2:102460737T>A	ENST00000347699.4	+	12	1197	c.1197T>A	c.(1195-1197)atT>atA	p.I399I	MAP4K4_ENST00000456652.1_Silent_p.I252I|MAP4K4_ENST00000302217.5_Silent_p.I252I|MAP4K4_ENST00000350198.4_Silent_p.I399I|MAP4K4_ENST00000413150.2_Silent_p.I399I|MAP4K4_ENST00000425019.1_Silent_p.I399I|MAP4K4_ENST00000324219.4_Silent_p.I399I|MAP4K4_ENST00000350878.4_Silent_p.I379I	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	399					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.I399I(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGAAGCGGATTGAGCAGCAGA	0.478																																						uc002tbg.2																			1	Substitution - coding silent(1)		lung(1)	stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1195-1197)ATT>ATA		mitogen-activated protein kinase kinase kinase							27.0	30.0	29.0					2																	102460737		2003	4187	6190	SO:0001819	synonymous_variant	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102460737T>A	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.1197T>A	2.37:g.102460737T>A						MAP4K4_uc002tbc.2_Silent_p.I399I|MAP4K4_uc002tbd.2_Silent_p.I399I|MAP4K4_uc002tbe.2_Silent_p.I399I|MAP4K4_uc002tbf.2_Silent_p.I399I|MAP4K4_uc010yvy.1_Silent_p.I399I|MAP4K4_uc002tbh.2_Silent_p.I399I|MAP4K4_uc002tbi.2_Silent_p.I252I|MAP4K4_uc010yvz.1_Silent_p.I379I|MAP4K4_uc002tbk.2_5'UTR|MAP4K4_uc002tbj.1_Silent_p.I295I	p.I399I	NM_145687	NP_663720	O95819	M4K4_HUMAN			12	1252	+			399					O75172|Q9NST7	Silent	SNP	ENST00000347699.4	37	c.1197T>A	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	T	10.75	1.438353	0.25900	.	.	ENSG00000071054	ENST00000421882	.	.	.	5.72	-3.5	0.04710	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1435	0.25570	0.1877:0.2326:0.0:0.5797	.	.	.	.	R	139	.	.	X	+	1	0	MAP4K4	101827169	0.000000	0.05858	0.982000	0.44146	0.995000	0.86356	-2.067000	0.01383	-0.296000	0.08947	-0.242000	0.12053	TGA		PASS	0.478	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		4	17	4	17	---	---	---	---
IL1RL1	9173	broad.mit.edu	37	2	102968370	102968370	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr2:102968370C>G	ENST00000233954.1	+	11	1931	c.1660C>G	c.(1660-1662)Cag>Gag	p.Q554E		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	554					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)	p.Q554E(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CTTGGCTGCCCAGAAGCAATA	0.498																																						uc002tbu.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1660-1662)CAG>GAG		interleukin 1 receptor-like 1 isoform 1							51.0	62.0	58.0					2																	102968370		2191	4296	6487	SO:0001583	missense	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102968370C>G	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.1660C>G	2.37:g.102968370C>G	ENSP00000233954:p.Gln554Glu					IL18R1_uc002tbw.3_Intron	p.Q554E	NM_016232	NP_057316	Q01638	ILRL1_HUMAN			11	1931	+			554			Cytoplasmic (Potential).		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	c.1660C>G	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	C	1.403	-0.577718	0.03854	.	.	ENSG00000115602	ENST00000233954	T	0.60299	0.2	4.39	3.42	0.39159	.	2.341320	0.01614	N	0.022686	T	0.55114	0.1900	L	0.53249	1.67	0.23232	N	0.99807	B	0.29378	0.243	B	0.24541	0.054	T	0.38542	-0.9656	10	0.35671	T	0.21	.	8.9861	0.35994	0.3051:0.6949:0.0:0.0	.	554	Q01638	ILRL1_HUMAN	E	554	ENSP00000233954:Q554E	ENSP00000233954:Q554E	Q	+	1	0	IL1RL1	102334802	0.002000	0.14202	0.009000	0.14445	0.102000	0.19082	1.038000	0.30254	0.999000	0.39023	0.555000	0.69702	CAG		PASS	0.498	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		12	96	12	96	---	---	---	---
PDE11A	50940	broad.mit.edu	37	2	178936561	178936561	+	Missense_Mutation	SNP	G	G	T	rs77063376	byFrequency	TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr2:178936561G>T	ENST00000286063.6	-	1	921	c.604C>A	c.(604-606)Cgt>Agt	p.R202S	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	202					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.R202C(1)|p.R202S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	AAGAACTGACGCTCATTATGC	0.478									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(3)|large_intestine(1)	4						c.(604-606)CGT>AGT		phosphodiesterase 11A isoform 4							119.0	105.0	110.0					2																	178936561		2203	4300	6503	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178936561G>T	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.604C>A	2.37:g.178936561G>T	ENSP00000286063:p.Arg202Ser					PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron	p.R202S	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		1	922	-			202					Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.604C>A	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688345	0.29962	.	.	ENSG00000128655	ENST00000286063	T	0.68765	-0.35	5.28	5.28	0.74379	.	0.160316	0.52532	D	0.000071	T	0.52661	0.1748	L	0.33753	1.03	0.80722	D	1	P	0.35793	0.521	B	0.30855	0.121	T	0.54241	-0.8323	10	0.35671	T	0.21	.	12.9262	0.58262	0.0:0.0:0.8379:0.1621	.	202	Q9HCR9	PDE11_HUMAN	S	202	ENSP00000286063:R202S	ENSP00000286063:R202S	R	-	1	0	PDE11A	178644807	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.851000	0.48302	2.473000	0.83533	0.655000	0.94253	CGT		PASS	0.478	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			35	240	35	240	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179576701	179576701	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr2:179576701C>A	ENST00000591111.1	-	94	27129	c.26905G>T	c.(26905-26907)Gtt>Ttt	p.V8969F	TTN_ENST00000342992.6_Missense_Mutation_p.V8042F|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V9286F|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13110	Ig-like 72.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V8042F(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGCAGAAACTTCTCCCACG	0.353																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(24124-24126)GTT>TTT		titin isoform N2-A							102.0	102.0	102.0					2																	179576701		1837	4093	5930	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179576701C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.26905G>T	2.37:g.179576701C>A	ENSP00000465570:p.Val8969Phe					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V4703F	p.V8042F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		93	24348	-			8969					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.24124G>T		.	.	.	.	.	.	.	.	.	.	c	9.341	1.063125	0.19987	.	.	ENSG00000155657	ENST00000342992	T	0.69306	-0.39	5.47	4.6	0.57074	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.79975	0.4539	M	0.90082	3.085	0.80722	D	1	D	0.54397	0.966	P	0.52109	0.69	D	0.85164	0.0994	9	0.87932	D	0	.	14.8264	0.70117	0.0:0.9305:0.0:0.0695	.	8969	Q8WZ42	TITIN_HUMAN	F	8042	ENSP00000343764:V8042F	ENSP00000343764:V8042F	V	-	1	0	TTN	179284946	0.696000	0.27757	1.000000	0.80357	0.429000	0.31625	1.227000	0.32576	1.441000	0.47550	-0.119000	0.15052	GTT		PASS	0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		37	132	37	132	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179640549	179640549	+	Silent	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr2:179640549G>T	ENST00000591111.1	-	28	6266	c.6042C>A	c.(6040-6042)acC>acA	p.T2014T	TTN_ENST00000342992.6_Silent_p.T2014T|TTN_ENST00000359218.5_Silent_p.T1968T|TTN_ENST00000460472.2_Silent_p.T1968T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Silent_p.T2014T|TTN_ENST00000589042.1_Silent_p.T2014T|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.T1968T|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12808					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T2014T(3)|p.T1968T(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCCACAGCGGTAATGGCTT	0.458																																						uc010zfg.1																			6	Substitution - coding silent(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(6040-6042)ACC>ACA		titin isoform N2-A							128.0	133.0	131.0					2																	179640549		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640549G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6042C>A	2.37:g.179640549G>T						TTN_uc010zfh.1_Silent_p.T1968T|TTN_uc010zfi.1_Silent_p.T1968T|TTN_uc010zfj.1_Silent_p.T1968T|TTN_uc002unb.2_Silent_p.T2014T|uc002unc.1_5'Flank	p.T2014T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6266	-			2014					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.6042C>A																																																																																					PASS	0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		78	259	78	259	---	---	---	---
PGAP1	80055	broad.mit.edu	37	2	197706014	197706014	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr2:197706014G>T	ENST00000354764.4	-	27	2827	c.2713C>A	c.(2713-2715)Ctt>Att	p.L905I		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	905					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)	p.L905I(1)		breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AAGCATGGAAGCCTATATAAA	0.368																																						uc002utw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2713-2715)CTT>ATT		GPI deacylase							100.0	93.0	95.0					2																	197706014		2203	4300	6503	SO:0001583	missense	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197706014G>T		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.2713C>A	2.37:g.197706014G>T	ENSP00000346809:p.Leu905Ile					PGAP1_uc002utx.2_Missense_Mutation_p.L731I|PGAP1_uc010fsi.2_Missense_Mutation_p.L144I	p.L905I	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN			27	2827	-			905			Helical; (Potential).		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	c.2713C>A	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032763	0.35893	.	.	ENSG00000197121	ENST00000354764;ENST00000422444	.	.	.	4.89	4.02	0.46733	.	0.271813	0.35378	N	0.003249	T	0.31979	0.0814	N	0.02539	-0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07481	-1.0770	9	0.21540	T	0.41	-7.255	15.5359	0.76001	0.0:0.8613:0.1386:0.0	.	731;905	Q75T13-2;Q75T13	.;PGAP1_HUMAN	I	905;142	.	ENSP00000346809:L905I	L	-	1	0	PGAP1	197414259	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.629000	0.54266	1.311000	0.45024	-0.204000	0.12730	CTT		PASS	0.368	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		14	72	14	72	---	---	---	---
CLK1	1195	broad.mit.edu	37	2	201724413	201724413	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr2:201724413C>A	ENST00000321356.4	-	5	673	c.538G>T	c.(538-540)Gat>Tat	p.D180Y	CLK1_ENST00000492793.1_5'Flank|CLK1_ENST00000434813.2_Missense_Mutation_p.D222Y|CLK1_ENST00000409769.2_5'Flank	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	180	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.D222Y(1)|p.D180Y(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GCTTTATGATCGATGCACTCC	0.363																																						uc002uwe.2																			2	Substitution - Missense(2)		lung(2)	pancreas(2)	2						c.(538-540)GAT>TAT		CDC-like kinase 1 isoform 1							90.0	86.0	87.0					2																	201724413		2203	4300	6503	SO:0001583	missense	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201724413C>A	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.538G>T	2.37:g.201724413C>A	ENSP00000326830:p.Asp180Tyr					CLK1_uc002uwd.2_5'Flank|CLK1_uc010zhi.1_Missense_Mutation_p.D222Y|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_Missense_Mutation_p.D29Y|CLK1_uc010fsv.2_RNA	p.D180Y	NM_004071	NP_004062	P49759	CLK1_HUMAN			5	719	-			180			Protein kinase.		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	c.538G>T	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.836849	0.71373	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000434813	T;T	0.24723	1.84;1.84	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60495	0.2273	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.67122	-0.5750	10	0.87932	D	0	.	19.3793	0.94525	0.0:1.0:0.0:0.0	.	222;150;180	B4DFW7;E9PH13;P49759	.;.;CLK1_HUMAN	Y	180;150;222	ENSP00000326830:D180Y;ENSP00000394734:D222Y	ENSP00000326830:D180Y	D	-	1	0	CLK1	201432658	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.091000	0.71406	2.753000	0.94483	0.555000	0.69702	GAT		PASS	0.363	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			17	108	17	108	---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212652768	212652768	+	Missense_Mutation	SNP	T	T	C	rs78887537		TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr2:212652768T>C	ENST00000342788.4	-	4	848	c.538A>G	c.(538-540)Aca>Gca	p.T180A	ERBB4_ENST00000436443.1_Missense_Mutation_p.T180A|ERBB4_ENST00000402597.1_Missense_Mutation_p.T180A|ERBB4_ENST00000484474.1_5'UTR	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	180					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T180A(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CTACCATTTGTTGACACAAGA	0.363										TSP Lung(8;0.080)																												uc002veg.1																			1	Substitution - Missense(1)		lung(1)	lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(538-540)ACA>GCA		v-erb-a erythroblastic leukemia viral oncogene							100.0	94.0	96.0					2																	212652768		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212652768T>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.538A>G	2.37:g.212652768T>C	ENSP00000342235:p.Thr180Ala	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.T180A|ERBB4_uc010zji.1_Missense_Mutation_p.T180A|ERBB4_uc010zjj.1_Missense_Mutation_p.T180A|ERBB4_uc010fut.1_Missense_Mutation_p.T180A	p.T180A	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	4	636	-		Renal(323;0.06)|Lung NSC(271;0.197)	180			Extracellular (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.538A>G	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	5.528	0.282437	0.10458	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597;ENST00000435846	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.32	5.32	0.75619	.	0.097312	0.64402	D	0.000001	T	0.75087	0.3802	L	0.28556	0.865	0.38289	D	0.942649	B;B;B;B;B	0.19445	0.029;0.001;0.011;0.029;0.036	B;B;B;B;B	0.29716	0.064;0.005;0.054;0.064;0.106	T	0.70655	-0.4812	10	0.14656	T	0.56	.	13.8429	0.63451	0.0:0.0:0.0:1.0	.	180;180;39;180;180	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	A	180;180;180;121	ENSP00000342235:T180A;ENSP00000403204:T180A;ENSP00000385565:T180A;ENSP00000405564:T121A	ENSP00000342235:T180A	T	-	1	0	ERBB4	212361013	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.603000	0.54074	2.008000	0.58898	0.397000	0.26171	ACA		PASS	0.363	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		21	109	21	109	---	---	---	---
PECR	55825	broad.mit.edu	37	2	216930136	216930136	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr2:216930136C>T	ENST00000265322.7	-	3	397	c.323G>A	c.(322-324)gGa>gAa	p.G108E	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	108					fatty acid biosynthetic process (GO:0006633)|oxidation-reduction process (GO:0055114)|phytol metabolic process (GO:0033306)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)	p.G108E(1)		endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	CTGGCCTCCTCCATTGTTCAC	0.418																																						uc002vft.2																			1	Substitution - Missense(1)		lung(1)		0						c.(322-324)GGA>GAA		peroxisomal trans-2-enoyl-CoA reductase	Adenine(DB00173)						115.0	108.0	110.0					2																	216930136		2203	4300	6503	SO:0001583	missense	55825				fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity	g.chr2:216930136C>T	AF119841	CCDS33375.1	2q35	2011-09-14			ENSG00000115425	ENSG00000115425	1.3.1.38	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18281	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 29C, member 1"""	605843				10811639, 11669066, 19027726	Standard	NM_018441		Approved	HSA250303, TERP, SDR29C1	uc002vft.3	Q9BY49	OTTHUMG00000154825	ENST00000265322.7:c.323G>A	2.37:g.216930136C>T	ENSP00000265322:p.Gly108Glu					PECR_uc010zjq.1_RNA|PECR_uc002vfr.2_5'UTR|PECR_uc002vfs.2_5'UTR|PECR_uc002vfu.1_Missense_Mutation_p.G127E	p.G108E	NM_018441	NP_060911	Q9BY49	PECR_HUMAN		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	3	391	-		Renal(323;0.0327)	108					B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Missense_Mutation	SNP	ENST00000265322.7	37	c.323G>A	CCDS33375.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382014	0.82792	.	.	ENSG00000115425	ENST00000265322	T	0.21734	1.99	5.8	2.87	0.33458	Apoptosis regulator, Bcl-2, BH (1);NAD(P)-binding domain (1);	0.149685	0.64402	D	0.000011	T	0.35189	0.0923	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.19257	-1.0311	10	0.87932	D	0	.	15.4202	0.75006	0.0:0.6079:0.3921:0.0	.	108;108	B4DJS2;Q9BY49	.;PECR_HUMAN	E	108	ENSP00000265322:G108E	ENSP00000265322:G108E	G	-	2	0	PECR	216638381	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.855000	0.48333	0.754000	0.32968	0.655000	0.94253	GGA		PASS	0.418	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337277.1	NM_018441		24	177	24	177	---	---	---	---
GIGYF2	26058	broad.mit.edu	37	2	233677120	233677120	+	Missense_Mutation	SNP	A	A	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr2:233677120A>T	ENST00000409547.1	+	20	2337	c.2026A>T	c.(2026-2028)Att>Ttt	p.I676F	GIGYF2_ENST00000409451.3_Missense_Mutation_p.I697F|GIGYF2_ENST00000409196.3_Missense_Mutation_p.I670F|GIGYF2_ENST00000452341.2_Missense_Mutation_p.I507F|GIGYF2_ENST00000373563.4_Missense_Mutation_p.I676F|GIGYF2_ENST00000373566.3_Missense_Mutation_p.I698F|GIGYF2_ENST00000409480.1_Missense_Mutation_p.I698F	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	676	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.I697F(1)|p.I676F(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TCAGAACATCATTCCCTCAGT	0.378																																						uc002vti.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(3)	7						c.(2026-2028)ATT>TTT		GRB10 interacting GYF protein 2 isoform b							87.0	83.0	84.0					2																	233677120		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233677120A>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2026A>T	2.37:g.233677120A>T	ENSP00000386537:p.Ile676Phe					GIGYF2_uc010zmj.1_Missense_Mutation_p.I676F|GIGYF2_uc002vtg.2_Missense_Mutation_p.I670F|GIGYF2_uc002vtj.3_Missense_Mutation_p.I697F|GIGYF2_uc002vtk.3_Missense_Mutation_p.I676F|GIGYF2_uc002vth.3_Missense_Mutation_p.I670F|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Missense_Mutation_p.I507F|GIGYF2_uc002vtq.3_Missense_Mutation_p.I9F	p.I676F	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	20	2363	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	676			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.2026A>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.793201	0.50102	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.74421	-0.72;-0.69;-0.72;-0.69;-0.84;-0.69;-0.73;-0.84;-0.56	5.28	2.73	0.32206	.	0.293264	0.33854	N	0.004490	T	0.75532	0.3862	M	0.61703	1.905	0.39558	D	0.969082	D;D;B;P	0.58970	0.96;0.984;0.089;0.956	P;P;B;P	0.52672	0.602;0.706;0.04;0.527	T	0.73630	-0.3922	10	0.52906	T	0.07	-4.7899	7.4363	0.27158	0.494:0.431:0.0749:0.0	.	507;697;676;670	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	F	698;619;676;698;676;676;619;670;697;670;507	ENSP00000362667:I698F;ENSP00000362664:I676F;ENSP00000386765:I698F;ENSP00000386537:I676F;ENSP00000404195:I619F;ENSP00000387070:I670F;ENSP00000387170:I697F;ENSP00000410297:I670F;ENSP00000411505:I507F	ENSP00000362664:I676F	I	+	1	0	GIGYF2	233385364	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.418000	0.44662	0.268000	0.21939	0.533000	0.62120	ATT		PASS	0.378	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		20	67	20	67	---	---	---	---
UGT1A1	54658	broad.mit.edu	37	2	234526363	234526363	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr2:234526363A>G	ENST00000373450.4	+	1	73	c.10A>G	c.(10-12)Aca>Gca	p.T4A		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	0					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.T4A(3)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CATGGCTCGCACAGGGTGGAC	0.562																																						uc002vup.2																			3	Substitution - Missense(3)		prostate(1)|lung(1)|kidney(1)	ovary(2)	2						c.(10-12)ACA>GCA		UDP glycosyltransferase 1 family, polypeptide A8							61.0	53.0	56.0					2																	234526363		2203	4300	6503	SO:0001583	missense	54576				drug metabolic process|fatty acid metabolic process|flavone metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme inhibitor activity|fatty acid binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|steroid binding	g.chr2:234526363A>G	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.10A>G	2.37:g.234526363A>G	ENSP00000362549:p.Thr4Ala					UGT1A8_uc010zmv.1_Missense_Mutation_p.T4A	p.T4A	NM_019076	NP_061949	Q9HAW9	UD18_HUMAN		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	73	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	4					A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.10A>G	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	A	1.349	-0.591910	0.03799	.	.	ENSG00000242366	ENST00000373450	T	0.57273	0.41	3.96	-1.46	0.08800	.	.	.	.	.	T	0.20577	0.0495	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27331	-1.0077	9	0.06891	T	0.86	.	5.6018	0.17357	0.3817:0.1909:0.4274:0.0	.	4;4	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	A	4	ENSP00000362549:T4A	ENSP00000362549:T4A	T	+	1	0	UGT1A8	234191102	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	0.041000	0.13927	-0.096000	0.12329	-1.318000	0.01297	ACA		PASS	0.562	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			3	78	3	78	---	---	---	---
ATG7	10533	broad.mit.edu	37	3	11340856	11340856	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr3:11340856G>T	ENST00000354449.3	+	3	206	c.181G>T	c.(181-183)Gct>Tct	p.A61S	ATG7_ENST00000446450.2_Missense_Mutation_p.A61S|ATG7_ENST00000354956.5_Missense_Mutation_p.A61S|ATG7_ENST00000469654.2_3'UTR	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	61					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)	p.A61S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TGGGCTGCCAGCTCGCTTAAC	0.368																																						uc003bwc.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(181-183)GCT>TCT		APG7 autophagy 7-like isoform a							150.0	142.0	144.0					3																	11340856		2203	4300	6503	SO:0001583	missense	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11340856G>T	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.181G>T	3.37:g.11340856G>T	ENSP00000346437:p.Ala61Ser					ATG7_uc003bwd.2_Missense_Mutation_p.A61S|ATG7_uc011aum.1_Missense_Mutation_p.A61S	p.A61S	NM_006395	NP_006386	O95352	ATG7_HUMAN			3	298	+			61					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	c.181G>T	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363556	0.41902	.	.	ENSG00000197548	ENST00000451513;ENST00000435760;ENST00000451830;ENST00000444619;ENST00000446450;ENST00000354956;ENST00000354449;ENST00000419112;ENST00000423116	T;T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	6.07	4.27	0.50696	.	0.117410	0.64402	D	0.000016	T	0.29126	0.0724	L	0.35542	1.07	0.36519	D	0.870032	B;B;B	0.17667	0.023;0.023;0.008	B;B;B	0.17722	0.019;0.016;0.01	T	0.18398	-1.0338	10	0.16420	T	0.52	-6.5953	9.6227	0.39732	0.1634:0.0:0.8366:0.0	.	61;61;61	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	S	61	ENSP00000415223:A61S;ENSP00000390547:A61S;ENSP00000411880:A61S;ENSP00000389996:A61S;ENSP00000412580:A61S;ENSP00000347042:A61S;ENSP00000346437:A61S;ENSP00000408303:A61S;ENSP00000416644:A61S	ENSP00000346437:A61S	A	+	1	0	ATG7	11315856	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	3.375000	0.52410	0.877000	0.35895	0.655000	0.94253	GCT		PASS	0.368	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		49	175	49	175	---	---	---	---
ARPP21	10777	broad.mit.edu	37	3	35835355	35835355	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr3:35835355C>T	ENST00000187397.4	+	20	2800	c.2344C>T	c.(2344-2346)Cca>Tca	p.P782S	ARPP21_ENST00000337271.5_Missense_Mutation_p.P763S|ARPP21_ENST00000458225.1_Missense_Mutation_p.P783S|ARPP21_ENST00000417925.1_Missense_Mutation_p.P783S|ARPP21_ENST00000444190.1_Missense_Mutation_p.P763S|ARPP21_ENST00000476052.1_3'UTR	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	782					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.P782S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCTGATTGGCCCACACTGCCC	0.537																																						uc003cgb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2344-2346)CCA>TCA		cyclic AMP-regulated phosphoprotein, 21 kD							142.0	122.0	129.0					3																	35835355		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35835355C>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2344C>T	3.37:g.35835355C>T	ENSP00000187397:p.Pro782Ser					ARPP21_uc003cga.2_Missense_Mutation_p.P763S|ARPP21_uc011axy.1_Missense_Mutation_p.P783S|ARPP21_uc003cgf.2_Missense_Mutation_p.P618S|ARPP21_uc003cgg.2_Missense_Mutation_p.P305S	p.P782S	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			20	2608	+			782					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.2344C>T	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.668241	0.67814	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000001	T	0.67344	0.2883	L	0.57536	1.79	0.46356	D	0.999008	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.997;0.999	T	0.65890	-0.6058	10	0.59425	D	0.04	-13.4781	18.7472	0.91797	0.0:1.0:0.0:0.0	.	783;305;782;763	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	S	783;763;763;782;783	ENSP00000414351:P783S;ENSP00000337792:P763S;ENSP00000405276:P763S;ENSP00000187397:P782S;ENSP00000412326:P783S	ENSP00000187397:P782S	P	+	1	0	ARPP21	35810359	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.937000	0.70162	2.854000	0.98071	0.655000	0.94253	CCA		PASS	0.537	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		29	101	29	101	---	---	---	---
CCDC36	339834	broad.mit.edu	37	3	49294148	49294148	+	Silent	SNP	T	T	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr3:49294148T>C	ENST00000438782.1	+	8	1454	c.1218T>C	c.(1216-1218)aaT>aaC	p.N406N	CCDC36_ENST00000296449.5_Silent_p.N406N|CCDC36_ENST00000452691.2_Silent_p.N406N			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	406								p.N396N(1)		endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		GCATTAAGAATGCCTGCCAAA	0.458																																						uc003cwk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)	2						c.(1216-1218)AAT>AAC		coiled-coil domain containing 36							97.0	99.0	98.0					3																	49294148		2203	4300	6503	SO:0001819	synonymous_variant	339834							g.chr3:49294148T>C	AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"""cancer/testis antigen 74"""						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.1218T>C	3.37:g.49294148T>C						CCDC36_uc011bck.1_Silent_p.N406N	p.N406N	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)	10	1605	+			406					C9JJL0|Q05DG9|Q96LP7	Silent	SNP	ENST00000438782.1	37	c.1218T>C	CCDS33755.2																																																																																				PASS	0.458	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1	NM_178173		34	120	34	120	---	---	---	---
ARHGEF3	50650	broad.mit.edu	37	3	56763415	56763415	+	Silent	SNP	T	T	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr3:56763415T>C	ENST00000296315.3	-	10	1632	c.1464A>G	c.(1462-1464)caA>caG	p.Q488Q	ARHGEF3_ENST00000413728.2_Silent_p.Q494Q|ARHGEF3_ENST00000338458.4_Silent_p.Q520Q|ARHGEF3_ENST00000497267.1_Silent_p.Q459Q|ARHGEF3_ENST00000496106.1_Silent_p.Q494Q	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	488					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|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)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q488Q(2)|p.Q520Q(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CACTGTCCGATTGGTCCATCT	0.557																																						uc003dig.2																			3	Substitution - coding silent(3)		lung(3)	ovary(1)	1						c.(1462-1464)CAA>CAG		Rho guanine nucleotide exchange factor 3 isoform							247.0	207.0	221.0					3																	56763415		2203	4300	6503	SO:0001819	synonymous_variant	50650				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr3:56763415T>C	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.1464A>G	3.37:g.56763415T>C						ARHGEF3_uc011bew.1_Silent_p.Q488Q|ARHGEF3_uc003dih.2_Silent_p.Q520Q|ARHGEF3_uc011bev.1_Silent_p.Q459Q|ARHGEF3_uc003dif.2_Silent_p.Q494Q|ARHGEF3_uc010hmy.1_Silent_p.Q286Q	p.Q488Q	NM_019555	NP_062455	Q9NR81	ARHG3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)	10	1633	-			488					A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Silent	SNP	ENST00000296315.3	37	c.1464A>G	CCDS2878.1																																																																																				PASS	0.557	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		30	119	30	119	---	---	---	---
SHQ1	55164	broad.mit.edu	37	3	72799702	72799702	+	Missense_Mutation	SNP	A	A	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr3:72799702A>C	ENST00000325599.8	-	11	1606	c.1467T>G	c.(1465-1467)agT>agG	p.S489R	SHQ1_ENST00000468371.1_5'UTR|SHQ1_ENST00000463369.1_Missense_Mutation_p.S461R	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	489	Ser-rich.		S -> N (in dbSNP:rs35178407). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.		negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S489R(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CTTGCAAAGAACTGACTGTCT	0.473																																						uc003dpf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1465-1467)AGT>AGG		SHQ1 homolog							125.0	121.0	122.0					3																	72799702		2203	4300	6503	SO:0001583	missense	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72799702A>C	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.1467T>G	3.37:g.72799702A>C	ENSP00000315182:p.Ser489Arg					SHQ1_uc010hod.2_Missense_Mutation_p.S400R	p.S489R	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	11	1574	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	489			Ser-rich.		B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	ENST00000325599.8	37	c.1467T>G	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	A	6.652	0.488860	0.12641	.	.	ENSG00000144736	ENST00000325599;ENST00000463369	T;T	0.30714	1.54;1.52	5.52	3.02	0.34903	.	2.458750	0.01385	N	0.013072	T	0.26340	0.0643	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32561	-0.9902	10	0.48119	T	0.1	5.7921	11.1617	0.48520	0.7047:0.2953:0.0:0.0	.	489	Q6PI26	SHQ1_HUMAN	R	489;461	ENSP00000315182:S489R;ENSP00000417452:S461R	ENSP00000315182:S489R	S	-	3	2	SHQ1	72882392	0.007000	0.16637	0.005000	0.12908	0.027000	0.11550	0.592000	0.23984	0.333000	0.23563	0.533000	0.62120	AGT		PASS	0.473	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		13	159	13	159	---	---	---	---
MIR1324	100302212	broad.mit.edu	37	3	75679975	75679975	+	RNA	SNP	C	C	A	rs111606583		TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr3:75679975C>A	ENST00000408868.1	+	0	62					NR_031714.1				microRNA 1324																		CTCTGGGTACCAGACAGAATT	0.507																																						hsa-mir-1324|MI0006657																			0					0															83.0	80.0	81.0					3																	75679975		1568	3578	5146			100302212							g.chr3:75679975C>A			3	2011-09-12		2008-12-18	ENSG00000221795	ENSG00000221795		"""ncRNAs / Micro RNAs"""	35377	non-coding RNA	RNA, micro				MIRN1324			Standard	NR_031714		Approved	hsa-mir-1324	uc021xar.1				3.37:g.75679975C>A																+									RNA	SNP	ENST00000408868.1	37	c.62C>A																																																																																					PASS	0.507	MIR1324-201	KNOWN	basic	miRNA	miRNA		NR_031714		6	128	6	128	---	---	---	---
DZIP3	9666	broad.mit.edu	37	3	108363259	108363259	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr3:108363259C>T	ENST00000361582.3	+	14	1620	c.1390C>T	c.(1390-1392)Cag>Tag	p.Q464*	DZIP3_ENST00000463306.1_Nonsense_Mutation_p.Q464*	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	464					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q464*(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GCAATCCAAACAGTTTGACTT	0.428																																						uc003dxd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1390-1392)CAG>TAG		DAZ interacting protein 3, zinc finger							154.0	147.0	149.0					3																	108363259		2203	4300	6503	SO:0001587	stop_gained	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108363259C>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1390C>T	3.37:g.108363259C>T	ENSP00000355028:p.Gln464*					DZIP3_uc003dxf.1_Nonsense_Mutation_p.Q464*|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Nonsense_Mutation_p.Q464*|DZIP3_uc003dxg.1_Nonsense_Mutation_p.Q187*	p.Q464*	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			14	1812	+			464					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Nonsense_Mutation	SNP	ENST00000361582.3	37	c.1390C>T	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674596	0.88445	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	.	.	.	4.39	3.51	0.40186	.	0.000000	0.49916	D	0.000136	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-4.8595	9.8143	0.40842	0.2048:0.7952:0.0:0.0	.	.	.	.	X	464	.	ENSP00000355028:Q464X	Q	+	1	0	DZIP3	109845949	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.018000	0.49625	1.421000	0.47157	-0.181000	0.13052	CAG		PASS	0.428	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		29	269	29	269	---	---	---	---
CD80	941	broad.mit.edu	37	3	119256055	119256055	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr3:119256055G>C	ENST00000264246.3	-	4	991	c.629C>G	c.(628-630)aCc>aGc	p.T210S	CD80_ENST00000383669.3_Missense_Mutation_p.T210S|CD80_ENST00000383668.3_Intron|CD80_ENST00000478182.1_Missense_Mutation_p.T210S	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	210	Ig-like C2-type.				cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.T210S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	GCTGTGGTTGGTTGTCATATT	0.393																																					Melanoma(132;135 1764 1806 5833 14593)	uc003ecq.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(628-630)ACC>AGC		CD80 antigen precursor	Abatacept(DB01281)						227.0	199.0	209.0					3																	119256055		2203	4300	6503	SO:0001583	missense	941				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding	g.chr3:119256055G>C		CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1700	protein-coding gene	gene with protein product	"""B-lymphocyte activation antigen B7"""	112203	"""CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)"", ""CD80 molecule """	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.629C>G	3.37:g.119256055G>C	ENSP00000264246:p.Thr210Ser					CD80_uc010hqt.1_Missense_Mutation_p.T210S|CD80_uc010hqu.1_Intron	p.T210S	NM_005191	NP_005182	P33681	CD80_HUMAN			4	1024	-			210			Extracellular (Potential).|Ig-like C2-type.		Q5DTA9|Q5DTB0	Missense_Mutation	SNP	ENST00000264246.3	37	c.629C>G	CCDS2989.1	.	.	.	.	.	.	.	.	.	.	G	2.445	-0.327720	0.05314	.	.	ENSG00000121594	ENST00000264246;ENST00000478182;ENST00000383669	T;T;T	0.12569	2.67;2.67;2.67	5.19	-8.54	0.00912	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.754380	0.02489	N	0.089239	T	0.04815	0.0130	N	0.03324	-0.35	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.33828	-0.9853	10	0.07644	T	0.81	0.8322	9.8674	0.41152	0.0:0.1386:0.2011:0.6603	.	210;210	Q5DTB0;P33681	.;CD80_HUMAN	S	210	ENSP00000264246:T210S;ENSP00000418364:T210S;ENSP00000373165:T210S	ENSP00000264246:T210S	T	-	2	0	CD80	120738745	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.564000	0.02152	-1.838000	0.01187	-0.884000	0.02946	ACC		PASS	0.393	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	NM_005191		80	379	80	379	---	---	---	---
MAATS1	89876	broad.mit.edu	37	3	119434428	119434428	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr3:119434428C>A	ENST00000273390.5	+	6	597	c.520C>A	c.(520-522)Cct>Act	p.P174T	MAATS1_ENST00000463700.1_Missense_Mutation_p.P174T	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	174						mitochondrion (GO:0005739)		p.P174T(1)									ATACACTTTTCCTCCTACTTC	0.368																																						uc003ede.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(520-522)CCT>ACT		AAT1-alpha							176.0	179.0	178.0					3																	119434428		2203	4300	6503	SO:0001583	missense	89876					mitochondrion	protein binding	g.chr3:119434428C>A	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.520C>A	3.37:g.119434428C>A	ENSP00000273390:p.Pro174Thr					C3orf15_uc003edc.2_Missense_Mutation_p.P174T|C3orf15_uc010hqy.1_Missense_Mutation_p.P174T|C3orf15_uc010hqz.2_Missense_Mutation_p.P112T|C3orf15_uc011bjd.1_Missense_Mutation_p.P48T|C3orf15_uc011bje.1_Missense_Mutation_p.P154T|C3orf15_uc010hra.1_5'UTR	p.P174T	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	6	597	+			174					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.520C>A	CCDS2994.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.45|13.45	2.240968|2.240968	0.39598|0.39598	.|.	.|.	ENSG00000183833|ENSG00000183833	ENST00000383667|ENST00000273390;ENST00000463700	.|T;T	.|0.44881	.|1.88;0.91	4.47|4.47	-2.19|-2.19	0.07015|0.07015	.|.	.|1.292170	.|0.05065	.|N	.|0.480493	T|T	0.25754|0.25754	0.0627|0.0627	L|L	0.33485|0.33485	1.01|1.01	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.20052	.|0.015;0.016;0.019;0.013;0.041	.|B;B;B;B;B	.|0.17433	.|0.015;0.01;0.005;0.007;0.018	T|T	0.13899|0.13899	-1.0492|-1.0492	6|10	0.87932|0.15952	D|T	0|0.53	-11.5086|-11.5086	2.3774|2.3774	0.04346|0.04346	0.4003:0.2299:0.2756:0.0941|0.4003:0.2299:0.2756:0.0941	.|.	.|174;112;174;174;174	.|Q7Z4T9;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7;Q7Z4T9-2	.|AAT1_HUMAN;.;.;.;.	L|T	151|174	.|ENSP00000273390:P174T;ENSP00000419489:P174T	ENSP00000373163:F151L|ENSP00000273390:P174T	F|P	+|+	3|1	2|0	C3orf15|C3orf15	120917118|120917118	0.000000|0.000000	0.05858|0.05858	0.032000|0.032000	0.17829|0.17829	0.790000|0.790000	0.44656|0.44656	-0.840000|-0.840000	0.04363|0.04363	-0.063000|-0.063000	0.13065|0.13065	0.585000|0.585000	0.79938|0.79938	TTC|CCT		PASS	0.368	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		137	397	137	397	---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183683230	183683230	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr3:183683230C>G	ENST00000334444.6	-	13	2133	c.1893G>C	c.(1891-1893)caG>caC	p.Q631H	ABCC5_ENST00000265586.6_Missense_Mutation_p.Q631H	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	631	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.Q631H(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GGATCCAGGCCTGCTGGGCCA	0.473																																						uc003fmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1891-1893)CAG>CAC		ATP-binding cassette, sub-family C, member 5							138.0	133.0	135.0					3																	183683230		2042	4207	6249	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183683230C>G	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1893G>C	3.37:g.183683230C>G	ENSP00000333926:p.Gln631His					ABCC5_uc011bqt.1_Missense_Mutation_p.Q159H|ABCC5_uc010hxl.2_Missense_Mutation_p.Q631H	p.Q631H	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		13	2058	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		631			ABC transporter 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.1893G>C	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106890	0.77096	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.90563	-2.69;-2.69	5.43	5.43	0.79202	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.91520	0.7322	L	0.28649	0.875	0.58432	D	0.999995	D;P	0.65815	0.995;0.954	D;P	0.66716	0.946;0.78	D	0.92287	0.5838	10	0.87932	D	0	-17.4068	13.526	0.61594	0.0:0.9255:0.0:0.0745	.	631;631	Q86UX3;O15440	.;MRP5_HUMAN	H	631;567;631	ENSP00000333926:Q631H;ENSP00000265586:Q631H	ENSP00000265586:Q631H	Q	-	3	2	ABCC5	185165924	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.371000	0.44248	2.527000	0.85204	0.655000	0.94253	CAG		PASS	0.473	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		43	201	43	201	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195517500	195517500	+	Silent	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr3:195517500G>A	ENST00000463781.3	-	2	1410	c.951C>T	c.(949-951)gaC>gaT	p.D317D	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.D317D	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	322					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)	p.D317D(1)		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)		AAGCTGTTGTGTCCTGAGTAG	0.463																																						uc011bto.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(949-951)GAC>GAT		mucin 4 isoform a							243.0	235.0	238.0					3																	195517500		2025	4174	6199	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195517500G>A	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.951C>T	3.37:g.195517500G>A						MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Silent_p.D199D	p.D317D	NM_018406	NP_060876	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	1411	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	322					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.951C>T	CCDS54700.1																																																																																				PASS	0.463	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		53	261	53	261	---	---	---	---
C4orf50	389197	broad.mit.edu	37	4	5981919	5981919	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr4:5981919C>A	ENST00000324058.5	-	2	239	c.150G>T	c.(148-150)caG>caT	p.Q50H	C4orf50_ENST00000531445.1_Missense_Mutation_p.Q524H			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	50								p.Q50H(1)		breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						GGAGCTCCTCCTGGAGGCGGG	0.652																																						uc003git.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|breast(1)	3						c.(148-150)CAG>CAT		hypothetical protein LOC389197							22.0	21.0	21.0					4																	5981919		2185	4260	6445	SO:0001583	missense	389197							g.chr4:5981919C>A	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.150G>T	4.37:g.5981919C>A	ENSP00000317287:p.Gln50His						p.Q50H	NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN			2	240	-			50			Potential.			Missense_Mutation	SNP	ENST00000324058.5	37	c.150G>T		.	.	.	.	.	.	.	.	.	.	C	11.23	1.577622	0.28180	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.26373	1.74;1.74	2.9	1.11	0.20524	.	0.664722	0.11626	U	0.545307	T	0.26882	0.0658	L	0.43152	1.355	0.09310	N	1	P	0.52061	0.95	P	0.50708	0.648	T	0.11108	-1.0601	10	0.48119	T	0.1	-4.1023	5.1957	0.15236	0.2374:0.5318:0.2308:0.0	.	50	Q6ZRC1	CD050_HUMAN	H	524;50	ENSP00000437121:Q524H;ENSP00000317287:Q50H	ENSP00000317287:Q50H	Q	-	3	2	C4orf50	6032820	0.079000	0.21365	0.011000	0.14972	0.331000	0.28603	0.556000	0.23438	0.270000	0.21984	0.655000	0.94253	CAG		PASS	0.652	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_207405		6	61	6	61	---	---	---	---
TBC1D14	57533	broad.mit.edu	37	4	7012487	7012487	+	Missense_Mutation	SNP	T	T	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr4:7012487T>G	ENST00000409757.4	+	11	1750	c.1626T>G	c.(1624-1626)ttT>ttG	p.F542L	TBC1D14_ENST00000410031.1_Missense_Mutation_p.F314L|TBC1D14_ENST00000446947.2_Missense_Mutation_p.F189L|TBC1D14_ENST00000448507.1_Missense_Mutation_p.F542L|TBC1D14_ENST00000451522.2_Missense_Mutation_p.F262L	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	542	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)	p.F542L(1)|p.F527L(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						AAATGGCGTTTTTTAGAGTGG	0.443																																						uc011bwg.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1624-1626)TTT>TTG		TBC1 domain family, member 14 isoform a							221.0	200.0	207.0					4																	7012487		2203	4300	6503	SO:0001583	missense	57533					intracellular	Rab GTPase activator activity	g.chr4:7012487T>G	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1626T>G	4.37:g.7012487T>G	ENSP00000386921:p.Phe542Leu					TBC1D14_uc003gjs.3_Missense_Mutation_p.F542L|TBC1D14_uc010idh.2_Missense_Mutation_p.F262L|TBC1D14_uc011bwh.1_Missense_Mutation_p.F189L|TBC1D14_uc003gju.3_Missense_Mutation_p.F33L	p.F542L	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN			11	1705	+			542			Rab-GAP TBC.		B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	c.1626T>G	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	T	23.3	4.394435	0.83011	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031;ENST00000451522;ENST00000439515;ENST00000446947	T;T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;3.7;2.84	5.45	0.363	0.16118	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	L	0.50847	1.595	0.80722	D	1	D;P;B	0.89917	1.0;0.542;0.384	D;B;P	0.79108	0.992;0.327;0.678	T	0.03296	-1.1051	10	0.20519	T	0.43	-22.6354	8.4633	0.32940	0.0:0.3217:0.0:0.6783	.	189;262;542	F5GXK4;Q9P2M4-2;Q9P2M4	.;.;TBC14_HUMAN	L	542;542;314;262;195;189	ENSP00000404041:F542L;ENSP00000386921:F542L;ENSP00000386343:F314L;ENSP00000388886:F262L;ENSP00000389082:F195L;ENSP00000405875:F189L	ENSP00000386921:F542L	F	+	3	2	TBC1D14	7063388	1.000000	0.71417	0.976000	0.42696	0.980000	0.70556	1.382000	0.34374	-0.136000	0.11475	0.448000	0.29417	TTT		PASS	0.443	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		35	302	35	302	---	---	---	---
PDGFRA	5156	broad.mit.edu	37	4	55139838	55139838	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr4:55139838G>T	ENST00000257290.5	+	10	1830	c.1499G>T	c.(1498-1500)cGa>cTa	p.R500L	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	500	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R500L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	ATCGCCGTGCGATGCCTGGCT	0.557			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.3				Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		1	Substitution - Missense(1)	p.R500R(1)	lung(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(1498-1500)CGA>CTA		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						82.0	80.0	81.0					4																	55139838		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55139838G>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1499G>T	4.37:g.55139838G>T	ENSP00000257290:p.Arg500Leu	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.R394L|PDGFRA_uc003ham.2_RNA	p.R500L	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		10	1830	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		500			Ig-like C2-type 5.|Extracellular (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1499G>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574589	0.65878	.	.	ENSG00000134853	ENST00000257290	T	0.76060	-0.99	5.9	5.9	0.94986	Immunoglobulin-like fold (1);	0.000000	0.27600	U	0.018647	D	0.86797	0.6019	M	0.78049	2.395	0.80722	D	1	P;D	0.89917	0.92;1.0	P;D	0.75484	0.788;0.986	D	0.83935	0.0308	10	0.33141	T	0.24	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	500;500	P16234-3;P16234	.;PGFRA_HUMAN	L	500	ENSP00000257290:R500L	ENSP00000257290:R500L	R	+	2	0	PDGFRA	54834595	1.000000	0.71417	0.017000	0.16124	0.010000	0.07245	6.812000	0.75226	2.788000	0.95919	0.650000	0.86243	CGA		PASS	0.557	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		18	141	18	141	---	---	---	---
RASGEF1B	153020	broad.mit.edu	37	4	82363480	82363480	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr4:82363480C>G	ENST00000264400.2	-	9	1130	c.979G>C	c.(979-981)Gtg>Ctg	p.V327L	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.V285L|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.V326L	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	327	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.V327L(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GCAGTCTTCACTTTGGCCCAA	0.388																																						uc003hmi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(979-981)GTG>CTG		RasGEF domain family, member 1B							145.0	130.0	135.0					4																	82363480		2203	4300	6503	SO:0001583	missense	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82363480C>G	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.979G>C	4.37:g.82363480C>G	ENSP00000264400:p.Val327Leu					RASGEF1B_uc003hmj.1_Missense_Mutation_p.V326L|RASGEF1B_uc010ijq.1_Missense_Mutation_p.V285L	p.V327L	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN			9	1123	-			327			Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	c.979G>C	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168861	0.78339	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	4.99	4.99	0.66335	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	L	0.35249	1.045	0.80722	D	1	B;B;P	0.35456	0.446;0.258;0.502	B;B;P	0.47075	0.31;0.163;0.536	T	0.02728	-1.1118	10	0.30854	T	0.27	.	18.4122	0.90555	0.0:1.0:0.0:0.0	.	285;326;327	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	L	326;327;285;172	ENSP00000425393:V326L;ENSP00000264400:V327L;ENSP00000338437:V285L;ENSP00000426929:V172L	ENSP00000264400:V327L	V	-	1	0	RASGEF1B	82582504	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.251000	0.78297	2.758000	0.94735	0.650000	0.86243	GTG		PASS	0.388	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		13	138	13	138	---	---	---	---
ADH4	127	broad.mit.edu	37	4	100062715	100062715	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr4:100062715G>T	ENST00000265512.7	-	3	313	c.239C>A	c.(238-240)cCa>cAa	p.P80Q	ADH4_ENST00000423445.1_Missense_Mutation_p.P99Q|ADH4_ENST00000505590.1_Missense_Mutation_p.P99Q|ADH4_ENST00000504581.1_5'Flank|ADH4_ENST00000508393.1_Missense_Mutation_p.P99Q|RP11-696N14.1_ENST00000500358.2_RNA	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	80					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)	p.P80Q(1)		NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		GGTCACTCCTGGCCCAATACT	0.413																																						uc003hun.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(238-240)CCA>CAA		class II alcohol dehydrogenase, pi subunit	NADH(DB00157)						86.0	77.0	80.0					4																	100062715		2203	4300	6503	SO:0001583	missense	127				alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	g.chr4:100062715G>T	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.239C>A	4.37:g.100062715G>T	ENSP00000265512:p.Pro80Gln					uc003hum.1_Intron|ADH4_uc011ced.1_Missense_Mutation_p.P99Q	p.P80Q	NM_000670	NP_000661	P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	3	315	-			80					A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	ENST00000265512.7	37	c.239C>A	CCDS34032.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727944	0.48833	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590;ENST00000512499;ENST00000504125	T;T;T;T;T;T	0.05081	3.5;3.5;3.5;3.5;3.5;3.5	4.2	3.31	0.37934	GroES-like (1);Alcohol dehydrogenase GroES-like (1);Alcohol dehydrogenase, zinc-type, conserved site (1);	0.075124	0.52532	D	0.000063	T	0.09949	0.0244	M	0.71296	2.17	0.40227	D	0.977808	B;B	0.28584	0.216;0.01	B;B	0.27715	0.082;0.081	T	0.07520	-1.0768	10	0.62326	D	0.03	-19.6551	12.7265	0.57174	0.0:0.0:0.7275:0.2725	.	99;80	P08319-2;P08319	.;ADH4_HUMAN	Q	99;80;99;99;99;80	ENSP00000424630:P99Q;ENSP00000265512:P80Q;ENSP00000397939:P99Q;ENSP00000425416:P99Q;ENSP00000423571:P99Q;ENSP00000427525:P80Q	ENSP00000265512:P80Q	P	-	2	0	ADH4	100281738	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.165000	0.16564	2.181000	0.69327	0.655000	0.94253	CCA		PASS	0.413	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		7	72	7	72	---	---	---	---
ENPEP	2028	broad.mit.edu	37	4	111409723	111409723	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr4:111409723C>T	ENST00000265162.5	+	2	1013	c.671C>T	c.(670-672)cCa>cTa	p.P224L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	224					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P224L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GATCATGAACCAACAGATGCC	0.423																																						uc003iab.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|breast(1)	5						c.(670-672)CCA>CTA		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						64.0	60.0	61.0					4																	111409723		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111409723C>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.671C>T	4.37:g.111409723C>T	ENSP00000265162:p.Pro224Leu						p.P224L	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	2	1013	+		Hepatocellular(203;0.217)	224			Extracellular (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.671C>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245197	0.80024	.	.	ENSG00000138792	ENST00000265162	T	0.03607	3.87	5.03	5.03	0.67393	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.32852	0.0843	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57636	-0.7777	10	0.87932	D	0	.	18.3533	0.90345	0.0:1.0:0.0:0.0	.	224	Q07075	AMPE_HUMAN	L	224	ENSP00000265162:P224L	ENSP00000265162:P224L	P	+	2	0	ENPEP	111629172	1.000000	0.71417	0.988000	0.46212	0.526000	0.34562	7.487000	0.81328	2.336000	0.79503	0.655000	0.94253	CCA		PASS	0.423	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			9	54	9	54	---	---	---	---
ZGRF1	55345	broad.mit.edu	37	4	113544995	113544995	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr4:113544995C>A	ENST00000505019.1	-	4	265	c.140G>T	c.(139-141)aGt>aTt	p.S47I	C4orf21_ENST00000445203.2_Missense_Mutation_p.S16I|C4orf21_ENST00000309071.5_Missense_Mutation_p.S47I	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		47						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.S47I(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AAGAAACAGACTCTCCAAACA	0.259																																						uc003iau.2																			2	Substitution - Missense(2)		lung(2)		0						c.(139-141)AGT>ATT		prematurely terminated mRNA decay factor-like							45.0	44.0	44.0					4																	113544995		2198	4283	6481	SO:0001583	missense	55345					integral to membrane	zinc ion binding	g.chr4:113544995C>A																												ENST00000505019.1:c.140G>T	4.37:g.113544995C>A	ENSP00000424737:p.Ser47Ile					C4orf21_uc003iaw.2_Missense_Mutation_p.S47I	p.S47I	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	4	351	-		Ovarian(17;0.156)	Error:Variant_position_missing_in_Q6ZU11_after_alignment					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.140G>T		.	.	.	.	.	.	.	.	.	.	C	17.98	3.519767	0.64634	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203;ENST00000503172	D;T;T	0.84944	-1.92;1.61;1.05	5.1	5.1	0.69264	Domain of unknown function DUF2439 (1);	0.087604	0.49916	D	0.000140	D	0.90188	0.6933	M	0.61703	1.905	0.31207	N	0.699086	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.984	D	0.89380	0.3681	10	0.72032	D	0.01	-20.5578	11.6181	0.51102	0.0:0.9175:0.0:0.0825	.	47;47	Q86YA3;G5EA02	CD021_HUMAN;.	I	47;47;16;47	ENSP00000424737:S47I;ENSP00000309095:S47I;ENSP00000390505:S16I	ENSP00000309095:S47I	S	-	2	0	C4orf21	113764444	0.693000	0.27728	0.881000	0.34555	0.895000	0.52256	1.160000	0.31761	2.380000	0.81148	0.591000	0.81541	AGT		PASS	0.259	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			4	42	4	42	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114257161	114257161	+	Missense_Mutation	SNP	A	A	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr4:114257161A>C	ENST00000357077.4	+	30	3592	c.3539A>C	c.(3538-3540)cAg>cCg	p.Q1180P	ANK2_ENST00000394537.3_Missense_Mutation_p.Q1180P|ANK2_ENST00000264366.6_Missense_Mutation_p.Q1147P|ANK2_ENST00000509550.1_Missense_Mutation_p.Q356P|ANK2_ENST00000506722.1_Missense_Mutation_p.Q1171P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1180	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.Q1180P(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCCCAGGTGCAGGCCGTCTTC	0.532																																						uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(3538-3540)CAG>CCG		ankyrin 2 isoform 1							94.0	93.0	94.0					4																	114257161		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114257161A>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3539A>C	4.37:g.114257161A>C	ENSP00000349588:p.Gln1180Pro					ANK2_uc003ibd.3_Missense_Mutation_p.Q1171P|ANK2_uc003ibf.3_Missense_Mutation_p.Q1180P|ANK2_uc011cgc.1_Missense_Mutation_p.Q356P|ANK2_uc003ibg.3_Missense_Mutation_p.Q175P|ANK2_uc003ibc.2_Missense_Mutation_p.Q1156P|ANK2_uc011cgb.1_Missense_Mutation_p.Q1195P	p.Q1180P	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	30	3639	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1147					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.3539A>C	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.540990	0.85917	.	.	ENSG00000145362	ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6	4.97	4.97	0.65823	.	0.000000	0.47093	D	0.000242	T	0.61788	0.2375	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D;D;P	0.76494	0.999;0.999;0.998;0.999;0.999;0.998;0.814	D;D;D;D;D;D;P	0.85130	0.939;0.993;0.925;0.986;0.997;0.952;0.761	T	0.69716	-0.5070	9	.	.	.	.	14.9655	0.71188	1.0:0.0:0.0:0.0	.	356;1147;192;1180;1180;1171;1171	E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.;ANK2_HUMAN;.;.;.;.;.	P	1093;1171;226;1195;1180;1180;1147;1171;356	ENSP00000421011:Q1093P;ENSP00000421067:Q1171P;ENSP00000424722:Q1195P;ENSP00000378044:Q1180P;ENSP00000349588:Q1180P;ENSP00000264366:Q1147P;ENSP00000426944:Q356P	.	Q	+	2	0	ANK2	114476610	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	7.526000	0.81920	1.988000	0.58038	0.533000	0.62120	CAG		PASS	0.532	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		23	179	23	179	---	---	---	---
INTU	27152	broad.mit.edu	37	4	128584730	128584730	+	Silent	SNP	A	A	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr4:128584730A>G	ENST00000335251.6	+	4	1066	c.963A>G	c.(961-963)tcA>tcG	p.S321S	INTU_ENST00000296461.5_Silent_p.S321S	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	321					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)		p.S321S(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CAGAAACCTCAAAGGAAGAGG	0.423																																						uc003ifk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(961-963)TCA>TCG		PDZ domain containing 6							74.0	75.0	75.0					4																	128584730		2203	4300	6503	SO:0001819	synonymous_variant	27152							g.chr4:128584730A>G	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.963A>G	4.37:g.128584730A>G						INTU_uc011cgq.1_RNA	p.S321S	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN			4	1033	+			321					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Silent	SNP	ENST00000335251.6	37	c.963A>G	CCDS34061.1																																																																																				PASS	0.423	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		13	112	13	112	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13871757	13871757	+	Missense_Mutation	SNP	G	G	T	rs141168110	byFrequency	TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr5:13871757G>T	ENST00000265104.4	-	23	3618	c.3514C>A	c.(3514-3516)Cag>Aag	p.Q1172K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1172	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q1172K(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TAGAGAATCTGGGACTCAAAT	0.403									Kartagener syndrome				G|||	8	0.00159744	0.0	0.0029	5008	,	,		17571	0.0		0.004	False		,,,				2504	0.002					uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(3514-3516)CAG>AAG		dynein, axonemal, heavy chain 5		G	LYS/GLN	2,4404	4.2+/-10.8	0,2,2201	122.0	137.0	132.0		3514	3.2	1.0	5	dbSNP_134	132	26,8574	17.9+/-57.8	0,26,4274	yes	missense	DNAH5	NM_001369.2	53	0,28,6475	TT,TG,GG		0.3023,0.0454,0.2153	benign	1172/4625	13871757	28,12978	2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13871757G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3514C>A	5.37:g.13871757G>T	ENSP00000265104:p.Gln1172Lys						p.Q1172K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			23	3556	-	Lung NSC(4;0.00476)		1172			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.3514C>A	CCDS3882.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	G	7.066	0.567421	0.13560	4.54E-4	0.003023	ENSG00000039139	ENST00000265104	T	0.21734	1.99	5.99	3.16	0.36331	.	0.176544	0.51477	N	0.000091	T	0.21921	0.0528	M	0.76170	2.325	0.41401	D	0.987678	B	0.02656	0.0	B	0.04013	0.001	T	0.09862	-1.0655	10	0.09590	T	0.72	.	11.4164	0.49954	0.0:0.2199:0.5405:0.2395	.	1172	Q8TE73	DYH5_HUMAN	K	1172	ENSP00000265104:Q1172K	ENSP00000265104:Q1172K	Q	-	1	0	DNAH5	13924757	1.000000	0.71417	0.999000	0.59377	0.853000	0.48598	5.226000	0.65299	0.378000	0.24764	-0.169000	0.13324	CAG		PASS	0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		48	100	48	100	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23510043	23510043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr5:23510043C>T	ENST00000296682.3	+	4	390	c.208C>T	c.(208-210)Cga>Tga	p.R70*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	70	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.R70*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAGAGCCACTCGACCAGCTTT	0.483										HNSCC(3;0.000094)																												uc003jgo.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(208-210)CGA>TGA		PR domain containing 9							73.0	69.0	71.0					5																	23510043		1876	4114	5990	SO:0001587	stop_gained	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23510043C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.208C>T	5.37:g.23510043C>T	ENSP00000296682:p.Arg70*	HNSCC(3;0.000094)					p.R70*	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			4	390	+			70			KRAB-related.		B4DX22|Q27Q50	Nonsense_Mutation	SNP	ENST00000296682.3	37	c.208C>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982499	0.93044	.	.	ENSG00000164256	ENST00000502755;ENST00000296682	.	.	.	3.79	2.87	0.33458	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6957	8.3953	0.32553	0.2342:0.7658:0.0:0.0	.	.	.	.	X	70	.	ENSP00000296682:R70X	R	+	1	2	PRDM9	23545800	0.612000	0.27000	0.999000	0.59377	0.740000	0.42216	0.296000	0.19083	0.882000	0.36016	0.609000	0.83330	CGA		PASS	0.483	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		8	172	8	172	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35793334	35793334	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr5:35793334C>T	ENST00000356031.3	+	32	4782	c.4628C>T	c.(4627-4629)tCa>tTa	p.S1543L	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Missense_Mutation_p.S340L|SPEF2_ENST00000440995.2_Missense_Mutation_p.S1538L	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1543					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)		p.S1543L(1)		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)			TTAGTAACCTCAATGCCTTGG	0.463																																						uc003jjo.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(4627-4629)TCA>TTA		KPL2 protein isoform 1							108.0	102.0	104.0					5																	35793334		1934	4140	6074	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35793334C>T	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.4628C>T	5.37:g.35793334C>T	ENSP00000348314:p.Ser1543Leu					SPEF2_uc003jjp.1_Missense_Mutation_p.S1029L|SPEF2_uc003jjr.2_Missense_Mutation_p.S598L	p.S1543L	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		32	4739	+	all_lung(31;7.56e-05)		1543					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.4628C>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225963	0.39300	.	.	ENSG00000152582	ENST00000356031;ENST00000440995;ENST00000303129	T;T;T	0.63255	-0.03;-0.03;-0.03	5.88	5.88	0.94601	.	0.362964	0.27996	N	0.017017	T	0.63873	0.2548	L	0.40543	1.245	0.09310	N	1	P;P;P	0.48089	0.905;0.86;0.666	P;P;B	0.47645	0.553;0.536;0.115	T	0.59857	-0.7375	10	0.48119	T	0.1	.	19.8137	0.96557	0.0:1.0:0.0:0.0	.	340;1538;1543	Q9C093-4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	L	1543;1538;340	ENSP00000348314:S1543L;ENSP00000412125:S1538L;ENSP00000303843:S340L	ENSP00000303843:S340L	S	+	2	0	SPEF2	35829091	0.335000	0.24748	0.007000	0.13788	0.174000	0.22865	5.410000	0.66381	2.780000	0.95670	0.655000	0.94253	TCA		PASS	0.463	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		18	202	18	202	---	---	---	---
JMY	133746	broad.mit.edu	37	5	78533462	78533462	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr5:78533462G>A	ENST00000396137.4	+	1	1451	c.989G>A	c.(988-990)gGc>gAc	p.G330D	DMGDH_ENST00000520388.1_5'Flank	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	330					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.G330D(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CGGCAGAAGGGCTACGAAGAA	0.582																																						uc003kfx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(988-990)GGC>GAC		junction-mediating and regulatory protein							53.0	59.0	57.0					5																	78533462		2026	4205	6231	SO:0001583	missense	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78533462G>A	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.989G>A	5.37:g.78533462G>A	ENSP00000379441:p.Gly330Asp						p.G330D	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	1	1509	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	330			Potential.		A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	ENST00000396137.4	37	c.989G>A	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	G	32	5.115322	0.94339	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.08008	3.14	5.22	5.22	0.72569	.	0.000000	0.85682	U	0.000000	T	0.29423	0.0733	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01105	-1.1450	10	0.66056	D	0.02	.	18.3846	0.90463	0.0:0.0:1.0:0.0	.	330	Q8N9B5	JMY_HUMAN	D	330	ENSP00000379441:G330D	ENSP00000282259:G330D	G	+	2	0	JMY	78569218	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.311000	0.78958	2.442000	0.82660	0.563000	0.77884	GGC		PASS	0.582	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		16	88	16	88	---	---	---	---
MEGF10	84466	broad.mit.edu	37	5	126755734	126755734	+	Splice_Site	SNP	A	A	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr5:126755734A>G	ENST00000274473.6	+	13	1693		c.e13-1		MEGF10_ENST00000508365.1_Splice_Site|MEGF10_ENST00000418761.2_Splice_Site|MEGF10_ENST00000503335.2_Splice_Site	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.?(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTTGTCGCACAGGCTGGCACG	0.557																																						uc003kuh.3																			1	Unknown(1)		lung(1)	ovary(4)	4						c.e13-2		multiple EGF-like-domains 10 precursor							69.0	54.0	59.0					5																	126755734		2203	4300	6503	SO:0001630	splice_region_variant	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126755734A>G	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1427-1A>G	5.37:g.126755734A>G						MEGF10_uc010jdc.1_Splice_Site_p.G476_splice|MEGF10_uc010jdd.1_Splice_Site_p.G476_splice|MEGF10_uc003kui.3_Splice_Site_p.G476_splice	p.G476_splice	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	13	1789	+		Prostate(80;0.165)						Q68DE5|Q8WUL3	Splice_Site	SNP	ENST00000274473.6	37	c.1427_splice	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	A	19.32	3.804629	0.70682	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1189	0.81329	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEGF10	126783633	1.000000	0.71417	0.996000	0.52242	0.598000	0.36846	8.953000	0.93041	2.263000	0.75096	0.533000	0.62120	.		PASS	0.557	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446	Intron	18	84	18	84	---	---	---	---
KIF20A	10112	broad.mit.edu	37	5	137518647	137518647	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr5:137518647T>C	ENST00000394894.3	+	7	1026	c.800T>C	c.(799-801)aTc>aCc	p.I267T	KIF20A_ENST00000508792.1_Missense_Mutation_p.I249T	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	267	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.I267T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTCTCTTCTATCAGTCAGTGT	0.517																																						uc003lcj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(799-801)ATC>ACC		kinesin family member 20A							77.0	72.0	74.0					5																	137518647		2203	4300	6503	SO:0001583	missense	10112				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	g.chr5:137518647T>C	AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.800T>C	5.37:g.137518647T>C	ENSP00000378356:p.Ile267Thr					KIF20A_uc011cyo.1_Missense_Mutation_p.I249T	p.I267T	NM_005733	NP_005724	O95235	KI20A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		7	1296	+			267			Kinesin-motor.		B4DL79|D3DQB6	Missense_Mutation	SNP	ENST00000394894.3	37	c.800T>C	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.036224	0.00406	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.68903	-0.33;-0.36	4.77	-3.48	0.04739	Kinesin, motor domain (3);	0.920537	0.09009	N	0.861770	T	0.33731	0.0873	N	0.04880	-0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34775	-0.9815	10	0.02654	T	1	0.0184	6.3487	0.21363	0.0:0.4018:0.3306:0.2677	.	249;267	B4DL79;O95235	.;KI20A_HUMAN	T	267;249	ENSP00000378356:I267T;ENSP00000420880:I249T	ENSP00000378356:I267T	I	+	2	0	KIF20A	137546546	0.014000	0.17966	0.033000	0.17914	0.617000	0.37484	0.542000	0.23222	-0.575000	0.05982	-0.912000	0.02778	ATC		PASS	0.517	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		24	70	24	70	---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140209904	140209904	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr5:140209904G>A	ENST00000529310.1	+	1	2342	c.2228G>A	c.(2227-2229)aGc>aAc	p.S743N	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	743					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S743N(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTGCTCCAGCGCAGTGGGG	0.682																																						uc003lho.2																			2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(2227-2229)AGC>AAC		protocadherin alpha 6 isoform 1 precursor							44.0	44.0	44.0					5																	140209904		2203	4299	6502	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209904G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2228G>A	5.37:g.140209904G>A	ENSP00000433378:p.Ser743Asn					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.S743N	p.S743N	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2255	+			743			Cytoplasmic (Potential).		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.2228G>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	9.935	1.215939	0.22373	.	.	ENSG00000081842	ENST00000529310	T	0.16597	2.33	3.98	3.98	0.46160	.	0.000000	0.43260	U	0.000583	T	0.23806	0.0576	M	0.75615	2.305	0.80722	D	1	B;B	0.30406	0.278;0.107	B;B	0.36244	0.22;0.077	T	0.03463	-1.1034	10	0.31617	T	0.26	.	12.2714	0.54708	0.0871:0.0:0.9129:0.0	.	743;743	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	N	743	ENSP00000433378:S743N	ENSP00000433378:S743N	S	+	2	0	PCDHA6	140190088	1.000000	0.71417	0.972000	0.41901	0.205000	0.24178	4.241000	0.58707	2.216000	0.71823	0.306000	0.20318	AGC		PASS	0.682	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		13	45	13	45	---	---	---	---
PCDHA13	56136	broad.mit.edu	37	5	140263278	140263278	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr5:140263278C>G	ENST00000289272.2	+	1	1425	c.1425C>G	c.(1423-1425)ttC>ttG	p.F475L	PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.F475L|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	475	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F475L(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACATCTTCACGGTGTCTG	0.667																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1423-1425)TTC>TTG		protocadherin alpha 13 isoform 1 precursor							67.0	69.0	69.0					5																	140263278		2203	4300	6503	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140263278C>G	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1425C>G	5.37:g.140263278C>G	ENSP00000289272:p.Phe475Leu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.F475L|PCDHA13_uc003lid.2_Missense_Mutation_p.F475L	p.F475L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1425	+			475			Cadherin 5.|Extracellular (Potential).		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1425C>G	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	c	13.28	2.190196	0.38707	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.44083	0.93;0.93	4.62	1.78	0.24846	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.34395	0.0896	N	0.05280	-0.08	0.23221	N	0.998097	P;P;P	0.42039	0.769;0.769;0.482	P;P;B	0.54856	0.762;0.546;0.284	T	0.25187	-1.0139	9	0.56958	D	0.05	.	7.8737	0.29582	0.0:0.7159:0.1325:0.1516	.	475;475;475	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	L	475	ENSP00000386821:F475L;ENSP00000289272:F475L	ENSP00000289272:F475L	F	+	3	2	PCDHA13	140243462	0.000000	0.05858	1.000000	0.80357	0.455000	0.32408	-0.230000	0.09083	0.164000	0.19529	-0.221000	0.12465	TTC		PASS	0.667	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		20	92	20	92	---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140554682	140554682	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr5:140554682G>T	ENST00000231137.3	+	1	2440	c.2266G>T	c.(2266-2268)Ggc>Tgc	p.G756C	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	756					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G756C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGACTGGAGGCTCCGGGAC	0.557																																						uc003lit.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2266-2268)GGC>TGC		protocadherin beta 7 precursor							90.0	134.0	119.0					5																	140554682		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554682G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2266G>T	5.37:g.140554682G>T	ENSP00000231137:p.Gly756Cys					PCDHB8_uc011dai.1_5'Flank	p.G756C	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2440	+			756			Cytoplasmic (Potential).		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.2266G>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057579	0.76074	.	.	ENSG00000113212	ENST00000231137	T	0.14640	2.49	4.33	4.33	0.51752	.	.	.	.	.	T	0.49150	0.1540	H	0.96398	3.815	0.45594	D	0.998531	D	0.67145	0.996	D	0.63033	0.91	T	0.69698	-0.5075	9	0.87932	D	0	.	16.8123	0.85724	0.0:0.0:1.0:0.0	.	756	Q9Y5E2	PCDB7_HUMAN	C	756	ENSP00000231137:G756C	ENSP00000231137:G756C	G	+	1	0	PCDHB7	140534866	1.000000	0.71417	0.042000	0.18584	0.143000	0.21401	9.618000	0.98365	2.104000	0.64026	0.455000	0.32223	GGC		PASS	0.557	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		24	283	24	283	---	---	---	---
PCDHB14	56122	broad.mit.edu	37	5	140604043	140604043	+	Silent	SNP	A	A	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr5:140604043A>G	ENST00000239449.4	+	1	966	c.966A>G	c.(964-966)acA>acG	p.T322T	PCDHB14_ENST00000515856.2_Silent_p.T169T	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	322	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T322T(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGGCAACAGATGGTGGGG	0.373																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(964-966)ACA>ACG		protocadherin beta 14 precursor							72.0	77.0	75.0					5																	140604043		2203	4300	6503	SO:0001819	synonymous_variant	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604043A>G	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.966A>G	5.37:g.140604043A>G						PCDHB14_uc011dal.1_Silent_p.T169T	p.T322T	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	966	+			322			Extracellular (Potential).|Cadherin 3.		B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	c.966A>G	CCDS4256.1																																																																																				PASS	0.373	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		27	120	27	120	---	---	---	---
GABRA6	2559	broad.mit.edu	37	5	161128669	161128669	+	Missense_Mutation	SNP	G	G	T	rs142468532		TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr5:161128669G>T	ENST00000274545.5	+	9	1685	c.1252G>T	c.(1252-1254)Gac>Tac	p.D418Y	GABRA6_ENST00000523217.1_Missense_Mutation_p.D408Y			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	418					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.D418Y(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CAGTAAAATAGACCAGTATTC	0.473										TCGA Ovarian(5;0.080)																												uc003lyu.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1252-1254)GAC>TAC		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						128.0	117.0	121.0					5																	161128669		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128669G>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1252G>T	5.37:g.161128669G>T	ENSP00000274545:p.Asp418Tyr	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Missense_Mutation_p.D189Y	p.D418Y	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1590	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	418			Cytoplasmic (Probable).		A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.1252G>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621465	0.87460	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.88741	-2.42;-2.42	5.16	5.16	0.70880	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.134612	0.64402	D	0.000003	D	0.96097	0.8728	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.96987	0.9719	10	0.87932	D	0	.	19.013	0.92881	0.0:0.0:1.0:0.0	.	418	Q16445	GBRA6_HUMAN	Y	418;408	ENSP00000274545:D418Y;ENSP00000430527:D408Y	ENSP00000274545:D418Y	D	+	1	0	GABRA6	161061247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.695000	0.98691	2.571000	0.86741	0.655000	0.94253	GAC		PASS	0.473	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			36	86	36	86	---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	572615	572615	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr6:572615C>A	ENST00000230449.4	-	13	1483	c.1348G>T	c.(1348-1350)Gcc>Tcc	p.A450S	EXOC2_ENST00000448181.3_Missense_Mutation_p.A45S	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	450					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A450S(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TCAACAAAGGCCACCCTGTGG	0.433																																						uc003mtd.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|ovary(2)|pancreas(1)	7						c.(1348-1350)GCC>TCC		Sec5 protein							96.0	94.0	95.0					6																	572615		2203	4300	6503	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:572615C>A	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.1348G>T	6.37:g.572615C>A	ENSP00000230449:p.Ala450Ser					EXOC2_uc003mte.2_Missense_Mutation_p.A450S|EXOC2_uc011dho.1_Missense_Mutation_p.A45S	p.A450S	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	13	1482	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	450					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.1348G>T	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	C	6.595	0.478106	0.12521	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T	0.42513	0.97	4.69	4.69	0.59074	.	0.351864	0.30911	N	0.008638	T	0.08223	0.0205	N	0.04880	-0.145	0.31208	N	0.699037	B	0.06786	0.001	B	0.04013	0.001	T	0.12915	-1.0529	10	0.09338	T	0.73	-17.4192	13.0305	0.58839	0.1612:0.8388:0.0:0.0	.	450	Q96KP1	EXOC2_HUMAN	S	450;45	ENSP00000230449:A450S	ENSP00000230449:A450S	A	-	1	0	EXOC2	517615	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.562000	0.53777	2.302000	0.77476	0.563000	0.77884	GCC		PASS	0.433	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		35	156	35	156	---	---	---	---
CDYL	9425	broad.mit.edu	37	6	4952549	4952549	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr6:4952549G>T	ENST00000328908.5	+	8	1675	c.1544G>T	c.(1543-1545)tGt>tTt	p.C515F	CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000343762.5_Missense_Mutation_p.C329F|CDYL_ENST00000397588.3_Missense_Mutation_p.C461F|CDYL_ENST00000449732.2_Missense_Mutation_p.C329F			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	515					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)	p.C515F(1)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CAGGAGGCGTGTGGCAAGGGC	0.567																																						uc003mwi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1543-1545)TGT>TTT		chromodomain protein, Y chromosome-like isoform							130.0	109.0	116.0					6																	4952549		2203	4300	6503	SO:0001583	missense	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4952549G>T	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1544G>T	6.37:g.4952549G>T	ENSP00000330512:p.Cys515Phe					CDYL_uc003mwj.2_Missense_Mutation_p.C461F|CDYL_uc003mwk.2_Missense_Mutation_p.C226F|CDYL_uc011dhx.1_Missense_Mutation_p.C329F|CDYL_uc011dhy.1_Missense_Mutation_p.C329F	p.C515F	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	8	1675	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	515					A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	ENST00000328908.5	37	c.1544G>T		.	.	.	.	.	.	.	.	.	.	G	16.49	3.139315	0.56936	.	.	ENSG00000153046	ENST00000328908;ENST00000397588;ENST00000449732;ENST00000343762	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.25	5.25	0.73442	Crotonase, core (1);	0.049563	0.85682	D	0.000000	T	0.48840	0.1522	L	0.37507	1.11	0.80722	D	1	B;B	0.27951	0.162;0.195	B;B	0.31390	0.079;0.129	T	0.51679	-0.8675	10	0.41790	T	0.15	.	17.8529	0.88752	0.0:0.0:1.0:0.0	.	461;515	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	F	515;461;329;329	ENSP00000330512:C515F;ENSP00000380718:C461F;ENSP00000394076:C329F;ENSP00000340908:C329F	ENSP00000330512:C515F	C	+	2	0	CDYL	4897548	1.000000	0.71417	0.934000	0.37439	0.919000	0.55068	9.640000	0.98453	2.442000	0.82660	0.467000	0.42956	TGT		PASS	0.567	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		26	101	26	101	---	---	---	---
GMNN	51053	broad.mit.edu	37	6	24781805	24781805	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr6:24781805A>G	ENST00000230056.3	+	4	562	c.230A>G	c.(229-231)aAt>aGt	p.N77S	GMNN_ENST00000356509.3_Missense_Mutation_p.N77S	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	77					mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)	p.N77S(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						GAAAATAAAAATCTTGGAGGA	0.353																																						uc003nem.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(229-231)AAT>AGT		geminin							44.0	48.0	47.0					6																	24781805		2203	4300	6503	SO:0001583	missense	51053				M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent	cytosol|nucleoplasm	histone deacetylase binding	g.chr6:24781805A>G	AF067855	CCDS4560.1	6p21.32	2008-10-31			ENSG00000112312	ENSG00000112312			17493	protein-coding gene	gene with protein product		602842				9635433	Standard	NM_001251989		Approved	Gem	uc003nem.3	O75496	OTTHUMG00000014363	ENST00000230056.3:c.230A>G	6.37:g.24781805A>G	ENSP00000230056:p.Asn77Ser					GMNN_uc003nen.2_Missense_Mutation_p.N77S	p.N77S	NM_015895	NP_056979	O75496	GEMI_HUMAN			4	437	+			77					B3KMM8|Q9H1Z1	Missense_Mutation	SNP	ENST00000230056.3	37	c.230A>G	CCDS4560.1	.	.	.	.	.	.	.	.	.	.	A	11.65	1.701353	0.30142	.	.	ENSG00000112312	ENST00000356509;ENST00000230056;ENST00000378054;ENST00000378059	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.49	-3.2	0.05156	.	1.068040	0.07040	N	0.829952	T	0.01523	0.0049	N	0.12961	0.28	0.09310	N	1	B	0.11235	0.004	B	0.14578	0.011	T	0.46541	-0.9184	10	0.08837	T	0.75	-2.8168	5.7759	0.18279	0.49:0.2366:0.2734:0.0	.	77	O75496	GEMI_HUMAN	S	77	ENSP00000348902:N77S;ENSP00000230056:N77S;ENSP00000367293:N77S;ENSP00000367298:N77S	ENSP00000230056:N77S	N	+	2	0	GMNN	24889784	0.641000	0.27251	0.026000	0.17262	0.997000	0.91878	0.553000	0.23391	-0.438000	0.07232	0.533000	0.62120	AAT		PASS	0.353	GMNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040021.2	NM_015895		17	78	17	78	---	---	---	---
HIST1H2BD	3017	broad.mit.edu	37	6	26158775	26158775	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr6:26158775G>C	ENST00000289316.2	+	1	402	c.378G>C	c.(376-378)aaG>aaC	p.K126N	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.K126N	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	126					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K126N(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						CCAGTTCCAAGTAACTTTGCC	0.512																																						uc003ngr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(376-378)AAG>AAC		histone cluster 1, H2bd							61.0	67.0	65.0					6																	26158775		2203	4300	6503	SO:0001583	missense	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158775G>C	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.378G>C	6.37:g.26158775G>C	ENSP00000289316:p.Lys126Asn					HIST1H2BD_uc003ngs.2_Missense_Mutation_p.K126N	p.K126N	NM_021063	NP_066407	P58876	H2B1D_HUMAN			1	427	+			126						Missense_Mutation	SNP	ENST00000289316.2	37	c.378G>C	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	14.56	2.572709	0.45798	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.29917	1.55;1.55	4.82	2.07	0.26955	Histone-fold (2);	0.000000	0.56097	D	0.000034	T	0.24275	0.0588	L	0.58302	1.8	0.30768	N	0.74339	P	0.38677	0.642	P	0.49421	0.61	T	0.07693	-1.0759	10	0.87932	D	0	.	9.6438	0.39855	0.2315:0.0:0.7685:0.0	.	126	P58876	H2B1D_HUMAN	N	126	ENSP00000367008:K126N;ENSP00000289316:K126N	ENSP00000289316:K126N	K	+	3	2	HIST1H2BD	26266754	1.000000	0.71417	0.743000	0.31040	0.367000	0.29736	3.003000	0.49505	0.328000	0.23435	-0.141000	0.14075	AAG		PASS	0.512	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		18	134	18	134	---	---	---	---
RNF5	6048	broad.mit.edu	37	6	32147865	32147865	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr6:32147865C>T	ENST00000375094.3	+	5	565	c.407C>T	c.(406-408)aCc>aTc	p.T136I	AGPAT1_ENST00000375104.2_5'Flank|AGPAT1_ENST00000336984.6_5'Flank|AGPAT1_ENST00000395497.1_5'Flank|RNF5_ENST00000427134.2_Missense_Mutation_p.T136I|AGPAT1_ENST00000490711.1_5'Flank	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																																						uc003oaj.3																			3	Substitution - Missense(3)		lung(3)		0						c.(406-408)ACC>ATC		ring finger protein 5							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					AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank	p.T136I	NM_006913	NP_008844	Q99942	RNF5_HUMAN			5	534	+			136			Helical; (Potential).		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		PASS	0.557	RNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076133.2	NM_006913		8	338	8	338	---	---	---	---
PRIM2	5558	broad.mit.edu	37	6	57472406	57472407	+	3'UTR	DNP	CA	CA	AG	rs2230039		TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr6:57472406_57472407CA>AG	ENST00000389488.2	+	0	1282_1283				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.Q399R(2)|p.Q399K(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GCAAAAGTTGCAGTCATACAAG	0.436																																						uc003pdx.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1195-1197)CAG>AAG|c.(1195-1197)CAG>CGG		DNA primase polypeptide 2																																				SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57472406C>A|g.chr6:57472407A>G		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	Exception_encountered	6.37:g.57472406_57472407delinsAG							p.Q399K|p.Q399R	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	13	1282|1283	+			399					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000389488.2	37	c.1195C>A|c.1196A>G																																																																																					PASS	0.436	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		12|13	90|89	12	89	---	---	---	---
HTR1E	3354	broad.mit.edu	37	6	87725839	87725839	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr6:87725839A>G	ENST00000305344.5	+	2	1490	c.787A>G	c.(787-789)Atc>Gtc	p.I263V		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	263					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.I263V(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CCATGCCTCCATCAGGATCCC	0.502																																						uc003pli.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(787-789)ATC>GTC		5-hydroxytryptamine (serotonin) receptor 1E	Eletriptan(DB00216)						168.0	165.0	166.0					6																	87725839		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725839A>G		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.787A>G	6.37:g.87725839A>G	ENSP00000307766:p.Ile263Val						p.I263V	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1490	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	263			Cytoplasmic (By similarity).		E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.787A>G	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.995327	0.00435	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.64991	-0.13;-0.13	4.39	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.097704	0.39475	U	0.001359	T	0.09202	0.0227	N	0.02129	-0.67	0.21967	N	0.999442	B	0.02656	0.0	B	0.04013	0.001	T	0.36986	-0.9725	10	0.06494	T	0.89	.	4.5303	0.12002	0.6509:0.0:0.3491:0.0	.	263	P28566	5HT1E_HUMAN	V	263	ENSP00000307766:I263V;ENSP00000358597:I263V	ENSP00000307766:I263V	I	+	1	0	HTR1E	87782558	0.954000	0.32549	0.998000	0.56505	0.424000	0.31475	1.831000	0.39141	1.630000	0.50440	0.172000	0.16884	ATC		PASS	0.502	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		40	391	40	391	---	---	---	---
FAM229B	619208	broad.mit.edu	37	6	112420591	112420591	+	Silent	SNP	G	G	T	rs587721146		TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr6:112420591G>T	ENST00000368656.2	+	3	402	c.105G>T	c.(103-105)ggG>ggT	p.G35G	FAM229B_ENST00000604268.1_Silent_p.G35G	NM_001033564.1	NP_001028736.1	Q4G0N7	F229B_HUMAN	family with sequence similarity 229, member B	35								p.G35G(1)									CCTGTAATGGGAAGGAGATGT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		18728	0.0		0.0	False		,,,				2504	0.001					uc003pvs.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(103-105)GGG>GGT		hypothetical protein LOC619208							99.0	93.0	95.0					6																	112420591		2203	4300	6503	SO:0001819	synonymous_variant	619208							g.chr6:112420591G>T		CCDS34513.1	6q21	2012-12-12	2012-12-12	2012-12-12	ENSG00000203778	ENSG00000203778			33858	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 225"""	C6orf225			Standard	NM_001033564		Approved	DKFZp586F0922, LOC619208	uc003pvs.3	Q4G0N7	OTTHUMG00000015383	ENST00000368656.2:c.105G>T	6.37:g.112420591G>T							p.G35G	NM_001033564	NP_001028736	Q4G0N7	CF225_HUMAN			3	530	+			35					B8ZZ33	Silent	SNP	ENST00000368656.2	37	c.105G>T	CCDS34513.1																																																																																				PASS	0.453	FAM229B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041870.2	NM_001033564		7	218	7	218	---	---	---	---
CLVS2	134829	broad.mit.edu	37	6	123332243	123332243	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr6:123332243C>A	ENST00000275162.5	+	3	1838	c.503C>A	c.(502-504)aCt>aAt	p.T168N	CLVS2_ENST00000368438.1_Missense_Mutation_p.T22N	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	168	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.T168N(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AGTAACTTCACTTTCAAGCAA	0.413																																						uc003pzi.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(502-504)ACT>AAT		retinaldehyde binding protein 1-like 2							135.0	118.0	124.0					6																	123332243		2203	4300	6503	SO:0001583	missense	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123332243C>A	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.503C>A	6.37:g.123332243C>A	ENSP00000275162:p.Thr168Asn						p.T168N	NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN			3	1372	+			168			CRAL-TRIO.		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	c.503C>A	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700818	0.68501	.	.	ENSG00000146352	ENST00000275162;ENST00000368438	D;D	0.84944	-1.92;-1.92	4.87	4.87	0.63330	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	T	0.77572	0.4150	L	0.45228	1.405	0.80722	D	1	P	0.42161	0.772	B	0.40982	0.345	T	0.80863	-0.1192	10	0.51188	T	0.08	-19.6249	18.1872	0.89796	0.0:1.0:0.0:0.0	.	168	Q5SYC1	CLVS2_HUMAN	N	168;22	ENSP00000275162:T168N;ENSP00000357423:T22N	ENSP00000275162:T168N	T	+	2	0	CLVS2	123373942	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.590000	0.82653	2.519000	0.84933	0.585000	0.79938	ACT		PASS	0.413	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		23	97	23	97	---	---	---	---
ADAT2	134637	broad.mit.edu	37	6	143771755	143771755	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr6:143771755G>A	ENST00000237283.8	-	1	55	c.41C>T	c.(40-42)gCg>gTg	p.A14V	RNA5SP221_ENST00000411271.1_RNA|ADAT2_ENST00000367593.1_5'UTR|PEX3_ENST00000367591.4_5'Flank	NM_182503.2	NP_872309.2	Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2	14					tRNA wobble adenosine to inosine editing (GO:0002100)		tRNA-specific adenosine deaminase activity (GO:0008251)|zinc ion binding (GO:0008270)	p.A14V(2)		endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		CACCGAGCACGCGCCGCTTGC	0.672																																						uc003qjj.2																			2	Substitution - Missense(2)		lung(2)		0						c.(40-42)GCG>GTG		deaminase domain containing 1							82.0	90.0	88.0					6																	143771755		2013	4185	6198	SO:0001583	missense	134637				tRNA processing		hydrolase activity|zinc ion binding	g.chr6:143771755G>A	BC037955	CCDS43511.1, CCDS69219.1	6q24.2	2014-01-28	2011-05-19	2007-08-16	ENSG00000189007	ENSG00000189007			21172	protein-coding gene	gene with protein product	tRNA-specific adenosine deaminase 2 homolog (S. cerevisiae)	615388	"""deaminase domain containing 1"", ""adenosine deaminase, tRNA-specific 2, TAD2 homolog (S. cerevisiae)"""	DEADC1		12457566	Standard	NM_182503		Approved	dJ20N2.1, TAD2	uc003qjj.3	Q7Z6V5	OTTHUMG00000015725	ENST00000237283.8:c.41C>T	6.37:g.143771755G>A	ENSP00000237283:p.Ala14Val					PEX3_uc011edx.1_5'Flank|PEX3_uc003qjl.2_5'Flank	p.A14V	NM_182503	NP_872309	Q7Z6V5	ADAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)	1	87	-			14					A6NL12|B3KWY3|Q7Z327|Q8IY39	Missense_Mutation	SNP	ENST00000237283.8	37	c.41C>T	CCDS43511.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973128	0.53614	.	.	ENSG00000189007	ENST00000237283;ENST00000367593	.	.	.	4.78	0.343	0.16001	.	1.165240	0.06245	N	0.691046	T	0.11580	0.0282	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.21999	-1.0229	9	0.19590	T	0.45	-0.9509	3.2338	0.06757	0.1028:0.4195:0.3214:0.1563	.	14	Q7Z6V5	ADAT2_HUMAN	V	14	.	ENSP00000237283:A14V	A	-	2	0	ADAT2	143813448	0.000000	0.05858	0.014000	0.15608	0.199000	0.23934	-0.763000	0.04740	0.895000	0.36342	0.557000	0.71058	GCG		PASS	0.672	ADAT2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042517.1	XM_059727		24	142	24	142	---	---	---	---
GNA12	2768	broad.mit.edu	37	7	2834600	2834600	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr7:2834600T>A	ENST00000275364.3	-	2	649	c.487A>T	c.(487-489)Atc>Ttc	p.I163F	GNA12_ENST00000407904.3_Missense_Mutation_p.I104F|GNA12_ENST00000544127.1_Missense_Mutation_p.I87F	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	163					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.I163F(1)		endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		GCCTCCCTGATGCCAGAATCC	0.572																																						uc003smu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(487-489)ATC>TTC		guanine nucleotide binding protein (G protein)							74.0	73.0	74.0					7																	2834600		2203	4300	6503	SO:0001583	missense	2768				G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:2834600T>A	L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.487A>T	7.37:g.2834600T>A	ENSP00000275364:p.Ile163Phe					GNA12_uc011jwb.1_Missense_Mutation_p.I163F|GNA12_uc003smt.2_Missense_Mutation_p.I104F	p.I163F	NM_007353	NP_031379	Q03113	GNA12_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)	2	651	-		Ovarian(82;0.0112)	163					A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Missense_Mutation	SNP	ENST00000275364.3	37	c.487A>T	CCDS5335.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.679811	0.88542	.	.	ENSG00000146535	ENST00000275364;ENST00000407904;ENST00000544127	D;D;D	0.90788	-2.73;-2.73;-2.73	5.58	5.58	0.84498	G protein alpha subunit, helical insertion (2);	0.053861	0.64402	D	0.000001	D	0.95799	0.8633	M	0.88031	2.925	0.80722	D	1	D;D;D	0.76494	0.989;0.999;0.999	P;D;D	0.76575	0.799;0.988;0.928	D	0.96481	0.9356	10	0.87932	D	0	.	14.3331	0.66572	0.0:0.0:0.0:1.0	.	163;163;104	Q5PPR5;Q03113;B3KXS2	.;GNA12_HUMAN;.	F	163;104;87	ENSP00000275364:I163F;ENSP00000385935:I104F;ENSP00000437469:I87F	ENSP00000275364:I163F	I	-	1	0	GNA12	2801126	1.000000	0.71417	0.998000	0.56505	0.887000	0.51463	5.775000	0.68915	2.134000	0.65973	0.460000	0.39030	ATC		PASS	0.572	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241608.1	NM_007353		54	163	54	163	---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4273008	4273008	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr7:4273008G>T	ENST00000404826.2	+	41	6088	c.5949G>T	c.(5947-5949)gaG>gaT	p.E1983D	SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Missense_Mutation_p.E1963D	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1983	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E1983D(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTGTGAATGAGGCGGGCTACG	0.612																																						uc003smx.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(5947-5949)GAG>GAT		sidekick 1 precursor							62.0	60.0	61.0					7																	4273008		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4273008G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5949G>T	7.37:g.4273008G>T	ENSP00000385899:p.Glu1983Asp					SDK1_uc010kso.2_Missense_Mutation_p.E1239D|SDK1_uc003smy.2_Missense_Mutation_p.E470D|SDK1_uc003smz.2_Missense_Mutation_p.E43D	p.E1983D	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	41	6088	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1983			Fibronectin type-III 13.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.5949G>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.301263	0.00243	.	.	ENSG00000146555	ENST00000404826;ENST00000446104;ENST00000389531	T;T	0.56941	0.43;0.43	4.9	-0.741	0.11112	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.801532	0.11150	N	0.594201	T	0.25419	0.0618	N	0.12637	0.245	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.11329	0.001;0.004;0.004;0.006	T	0.26815	-1.0092	10	0.06365	T	0.9	.	5.9866	0.19438	0.0688:0.3805:0.3609:0.1899	.	1963;43;470;1983	F8W6X9;Q7Z5N4-2;F2Z3E9;Q7Z5N4	.;.;.;SDK1_HUMAN	D	1983;231;1963	ENSP00000385899:E1983D;ENSP00000374182:E1963D	ENSP00000374182:E1963D	E	+	3	2	SDK1	4239534	0.458000	0.25760	0.001000	0.08648	0.011000	0.07611	-0.015000	0.12634	0.101000	0.17610	-0.844000	0.03045	GAG		PASS	0.612	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		17	109	17	109	---	---	---	---
SP4	6671	broad.mit.edu	37	7	21469888	21469888	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr7:21469888G>T	ENST00000222584.3	+	3	1323	c.1105G>T	c.(1105-1107)Gag>Tag	p.E369*		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	369					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.E369*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TGCTGCTACTGAGTCTGAAGC	0.478																																						uc003sva.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1105-1107)GAG>TAG		Sp4 transcription factor							88.0	79.0	82.0					7																	21469888		2203	4300	6503	SO:0001587	stop_gained	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469888G>T		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1105G>T	7.37:g.21469888G>T	ENSP00000222584:p.Glu369*					SP4_uc003svb.2_Nonsense_Mutation_p.E56*	p.E369*	NM_003112	NP_003103	Q02446	SP4_HUMAN			3	1286	+			369					O60402|Q32M52	Nonsense_Mutation	SNP	ENST00000222584.3	37	c.1105G>T	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	39	7.452588	0.98292	.	.	ENSG00000105866	ENST00000222584	.	.	.	4.85	4.85	0.62838	.	0.174218	0.50627	D	0.000104	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	18.1428	0.89646	0.0:0.0:1.0:0.0	.	.	.	.	X	369	.	ENSP00000222584:E369X	E	+	1	0	SP4	21436413	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.091000	0.71406	2.512000	0.84698	0.591000	0.81541	GAG		PASS	0.478	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		17	128	17	128	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21847537	21847537	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr7:21847537A>G	ENST00000409508.3	+	63	10233	c.10202A>G	c.(10201-10203)gAa>gGa	p.E3401G	DNAH11_ENST00000328843.6_Missense_Mutation_p.E3408G	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3408	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E3408G(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAGTCCTTTGAAGCTCAAGAG	0.473									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(10222-10224)GAA>GGA		dynein, axonemal, heavy chain 11							79.0	76.0	77.0					7																	21847537		1896	4116	6012	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21847537A>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10202A>G	7.37:g.21847537A>G	ENSP00000475939:p.Glu3401Gly						p.E3408G	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			64	10254	+			3408			Potential.|Stalk (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.10223A>G		.	.	.	.	.	.	.	.	.	.	A	16.48	3.135029	0.56828	.	.	ENSG00000105877	ENST00000328843	T	0.74737	-0.87	6.02	6.02	0.97574	Dynein heavy chain, coiled coil stalk (1);	0.409630	0.30219	N	0.010129	T	0.73659	0.3615	.	.	.	0.37640	D	0.922	P	0.36837	0.571	B	0.43123	0.409	T	0.73610	-0.3928	9	0.25751	T	0.34	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	3408	Q96DT5	DYH11_HUMAN	G	3408	ENSP00000330671:E3408G	ENSP00000330671:E3408G	E	+	2	0	DNAH11	21814062	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.361000	0.73070	2.311000	0.77944	0.533000	0.62120	GAA		PASS	0.473	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		10	50	10	50	---	---	---	---
NEUROD6	63974	broad.mit.edu	37	7	31378481	31378481	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr7:31378481C>G	ENST00000297142.3	-	2	724	c.402G>C	c.(400-402)gaG>gaC	p.E134D		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	134	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E134D(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GTCGTAAAGTCTCTATTTTGG	0.463																																						uc003tch.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(400-402)GAG>GAC		neurogenic differentiation 6							80.0	84.0	83.0					7																	31378481		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378481C>G	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.402G>C	7.37:g.31378481C>G	ENSP00000297142:p.Glu134Asp						p.E134D	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	755	-			134			Helix-loop-helix motif.		Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.402G>C	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.561802	0.45590	.	.	ENSG00000164600	ENST00000297142	D	0.97994	-4.65	5.25	1.67	0.24075	Helix-loop-helix DNA-binding (5);	0.046217	0.85682	N	0.000000	D	0.97362	0.9137	L	0.52573	1.65	0.52099	D	0.999949	D	0.63046	0.992	D	0.74348	0.983	D	0.95407	0.8495	10	0.45353	T	0.12	-10.6239	8.2915	0.31960	0.0:0.2353:0.0:0.7647	.	134	Q96NK8	NDF6_HUMAN	D	134	ENSP00000297142:E134D	ENSP00000297142:E134D	E	-	3	2	NEUROD6	31345006	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.140000	0.31516	0.332000	0.23536	-0.312000	0.09012	GAG		PASS	0.463	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		35	144	35	144	---	---	---	---
NEUROD6	63974	broad.mit.edu	37	7	31378518	31378518	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr7:31378518G>A	ENST00000297142.3	-	2	687	c.365C>T	c.(364-366)cCc>cTc	p.P122L		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	122	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P122L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AGAATAACAGGGGACCACTTT	0.478																																						uc003tch.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(364-366)CCC>CTC		neurogenic differentiation 6							115.0	117.0	117.0					7																	31378518		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378518G>A	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.365C>T	7.37:g.31378518G>A	ENSP00000297142:p.Pro122Leu						p.P122L	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	718	-			122			Helix-loop-helix motif.		Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.365C>T	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940285	0.73557	.	.	ENSG00000164600	ENST00000297142	D	0.97328	-4.34	5.25	5.25	0.73442	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98953	0.9644	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99585	1.0974	10	0.87932	D	0	-17.5991	18.86	0.92268	0.0:0.0:1.0:0.0	.	122	Q96NK8	NDF6_HUMAN	L	122	ENSP00000297142:P122L	ENSP00000297142:P122L	P	-	2	0	NEUROD6	31345043	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.807000	0.99171	2.459000	0.83118	0.650000	0.86243	CCC		PASS	0.478	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		38	179	38	179	---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42007413	42007413	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr7:42007413T>C	ENST00000395925.3	-	14	2296	c.2212A>G	c.(2212-2214)Ata>Gta	p.I738V	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	738					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I738V(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGGTCTCCTATACTACCTCCA	0.552									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1																			1	Substitution - Missense(1)		lung(1)	lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(2212-2214)ATA>GTA		GLI-Kruppel family member GLI3							193.0	178.0	183.0					7																	42007413		2203	4300	6503	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42007413T>C		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2212A>G	7.37:g.42007413T>C	ENSP00000379258:p.Ile738Val					GLI3_uc011kbg.1_Missense_Mutation_p.I679V	p.I738V	NM_000168	NP_000159	P10071	GLI3_HUMAN			14	2303	-			738					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.2212A>G	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	T	4.789	0.146698	0.09134	.	.	ENSG00000106571	ENST00000395925	T	0.12569	2.67	5.58	0.599	0.17519	.	0.511841	0.22693	N	0.056800	T	0.03608	0.0103	N	0.00801	-1.175	0.27116	N	0.962249	B	0.02656	0.0	B	0.04013	0.001	T	0.43081	-0.9413	10	0.16896	T	0.51	.	10.6793	0.45804	0.0:0.5312:0.0:0.4688	.	738	P10071	GLI3_HUMAN	V	738	ENSP00000379258:I738V	ENSP00000379258:I738V	I	-	1	0	GLI3	41973938	0.881000	0.30235	0.019000	0.16419	0.794000	0.44872	0.022000	0.13511	-0.173000	0.10761	-0.242000	0.12053	ATA		PASS	0.552	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		44	222	44	222	---	---	---	---
COBL	23242	broad.mit.edu	37	7	51096398	51096398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr7:51096398G>A	ENST00000265136.7	-	10	2560	c.2395C>T	c.(2395-2397)Cag>Tag	p.Q799*	COBL_ENST00000395542.2_Nonsense_Mutation_p.Q881*	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	799					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)	p.Q799*(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCTGCGTCTGCGTGGGCACA	0.622																																					NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)	5						c.(2395-2397)CAG>TAG		cordon-bleu homolog							48.0	52.0	51.0					7																	51096398		2203	4300	6503	SO:0001587	stop_gained	23242							g.chr7:51096398G>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2395C>T	7.37:g.51096398G>A	ENSP00000265136:p.Gln799*					COBL_uc003tps.2_Nonsense_Mutation_p.Q856*|COBL_uc011kcl.1_Nonsense_Mutation_p.Q799*|COBL_uc003tpp.3_Nonsense_Mutation_p.Q585*|COBL_uc003tpq.3_Nonsense_Mutation_p.Q740*|COBL_uc003tpo.3_Nonsense_Mutation_p.Q341*	p.Q799*	NM_015198	NP_056013	O75128	COBL_HUMAN			10	2580	-	Glioma(55;0.08)		799					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Nonsense_Mutation	SNP	ENST00000265136.7	37	c.2395C>T	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265786	0.80358	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	.	.	.	5.5	-1.45	0.08828	.	2.699490	0.01751	N	0.029939	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9005	0.24281	0.0:0.1353:0.3634:0.5013	.	.	.	.	X	799;691;684;881	.	ENSP00000265136:Q799X	Q	-	1	0	COBL	51063892	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.842000	0.27627	-0.503000	0.06586	-1.097000	0.02148	CAG		PASS	0.622	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		5	91	5	91	---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	70597922	70597922	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr7:70597922G>A	ENST00000333538.5	+	1	768	c.134G>A	c.(133-135)cGc>cAc	p.R45H		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	45					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R45H(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATCCGGCCGCGCGCCGAGGTG	0.682																																						uc003tvy.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(133-135)CGC>CAC		UDP-GalNAc:polypeptide							26.0	27.0	27.0					7																	70597922		2198	4289	6487	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70597922G>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.134G>A	7.37:g.70597922G>A	ENSP00000329654:p.Arg45His						p.R45H	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			1	134	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	45			Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.134G>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	32	5.134006	0.94517	.	.	ENSG00000185274	ENST00000333538	T	0.56611	0.45	4.72	4.72	0.59763	.	0.276160	0.24973	N	0.034138	T	0.48466	0.1501	L	0.38175	1.15	0.46336	D	0.998991	D	0.60160	0.987	P	0.45232	0.474	T	0.52711	-0.8539	10	0.49607	T	0.09	.	16.8419	0.85971	0.0:0.0:1.0:0.0	.	45	Q6IS24	GLTL3_HUMAN	H	45	ENSP00000329654:R45H	ENSP00000329654:R45H	R	+	2	0	WBSCR17	70235858	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.645000	0.83430	2.448000	0.82819	0.467000	0.42956	CGC		PASS	0.682	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		7	23	7	23	---	---	---	---
WNT2	7472	broad.mit.edu	37	7	116960739	116960739	+	Silent	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr7:116960739G>A	ENST00000265441.3	-	2	491	c.192C>T	c.(190-192)gcC>gcT	p.A64A	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	64					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.A64A(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCTGGCTAATGGCACGCATCA	0.602																																						uc003viz.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7						c.(190-192)GCC>GCT		wingless-type MMTV integration site family							69.0	55.0	60.0					7																	116960739		2203	4300	6503	SO:0001819	synonymous_variant	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116960739G>A	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.192C>T	7.37:g.116960739G>A						WNT2_uc003vja.2_5'UTR	p.A64A	NM_003391	NP_003382	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	2	492	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		64					A4D0V1|Q75N05|Q9UDP9	Silent	SNP	ENST00000265441.3	37	c.192C>T	CCDS5771.1																																																																																				PASS	0.602	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		8	48	8	48	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128485048	128485048	+	Missense_Mutation	SNP	A	A	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr7:128485048A>T	ENST00000325888.8	+	21	3790	c.3529A>T	c.(3529-3531)Act>Tct	p.T1177S	FLNC_ENST00000346177.6_Missense_Mutation_p.T1177S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1177					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.T1177S(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGCCACCTTCACTGTGGACTG	0.647																																						uc003vnz.3																			1	Substitution - Missense(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(3529-3531)ACT>TCT		gamma filamin isoform a							38.0	45.0	43.0					7																	128485048		2166	4265	6431	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128485048A>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3529A>T	7.37:g.128485048A>T	ENSP00000327145:p.Thr1177Ser					FLNC_uc003voa.3_Missense_Mutation_p.T1177S	p.T1177S	NM_001458	NP_001449	Q14315	FLNC_HUMAN			21	3738	+			1177			Filamin 10.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.3529A>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329907	0.41297	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84516	-1.86;-1.86	5.56	5.56	0.83823	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89660	0.6779	L	0.55103	1.725	0.42816	D	0.993977	D;B	0.76494	0.999;0.016	D;B	0.81914	0.995;0.06	D	0.87394	0.2365	10	0.21014	T	0.42	.	15.7144	0.77655	1.0:0.0:0.0:0.0	.	1177;1177	Q14315-2;Q14315	.;FLNC_HUMAN	S	1177	ENSP00000327145:T1177S;ENSP00000344002:T1177S	ENSP00000327145:T1177S	T	+	1	0	FLNC	128272284	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.414000	0.59802	2.114000	0.64651	0.454000	0.30748	ACT		PASS	0.647	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			17	48	17	48	---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137257552	137257552	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr7:137257552C>A	ENST00000288490.5	-	18	1794	c.1794G>T	c.(1792-1794)caG>caT	p.Q598H	DGKI_ENST00000446122.1_Missense_Mutation_p.Q598H|DGKI_ENST00000453654.2_Missense_Mutation_p.Q298H|DGKI_ENST00000424189.2_Missense_Mutation_p.Q598H	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	598					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.Q598H(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ACTTCAGTTCCTGAATCTTTG	0.373																																						uc003vtt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(1792-1794)CAG>CAT		diacylglycerol kinase, iota							108.0	113.0	111.0					7																	137257552		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137257552C>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1794G>T	7.37:g.137257552C>A	ENSP00000288490:p.Gln598His					DGKI_uc003vtu.2_Missense_Mutation_p.Q298H	p.Q598H	NM_004717	NP_004708	O75912	DGKI_HUMAN			18	1795	-			598					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.1794G>T	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673265	0.88445	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.41400	1.0;1.0;1.0	5.45	5.45	0.79879	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.62938	0.2469	L	0.58302	1.8	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.77004	0.985;0.989	T	0.63470	-0.6630	10	0.59425	D	0.04	.	18.8994	0.92435	0.0:1.0:0.0:0.0	.	298;598	E9PFX6;O75912	.;DGKI_HUMAN	H	298;546;598;598;598	ENSP00000392161:Q298H;ENSP00000288490:Q598H;ENSP00000399131:Q598H	ENSP00000288490:Q598H	Q	-	3	2	DGKI	136908092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.577000	0.60922	2.567000	0.86603	0.563000	0.77884	CAG		PASS	0.373	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		56	128	56	128	---	---	---	---
TBXAS1	6916	broad.mit.edu	37	7	139715640	139715640	+	Silent	SNP	G	G	A	rs147299625		TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr7:139715640G>A	ENST00000336425.5	+	15	1733	c.1344G>A	c.(1342-1344)ccG>ccA	p.P448P	TBXAS1_ENST00000411653.1_Silent_p.P448P|TBXAS1_ENST00000414508.2_Silent_p.P449P|TBXAS1_ENST00000458722.1_Silent_p.P494P|TBXAS1_ENST00000416849.2_Silent_p.P495P|TBXAS1_ENST00000448866.1_Silent_p.P448P|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000436047.2_Silent_p.P449P|TBXAS1_ENST00000263552.6_Silent_p.P449P|TBXAS1_ENST00000425687.1_Silent_p.P381P			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	448					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)	p.P449P(1)|p.P495P(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	GGCCAAGCCCGGAGACCTTCA	0.597																																						uc011kqv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(1)	3						c.(1483-1485)CCG>CCA		thromboxane A synthase 1, platelet isoform		G	,,,,	1,4405	2.1+/-5.4	0,1,2202	54.0	53.0	53.0		1347,1347,1485,1143,1347	-9.0	0.0	7	dbSNP_134	53	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TBXAS1	NM_001061.4,NM_001130966.2,NM_001166253.1,NM_001166254.1,NM_030984.3	,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,	449/535,449/535,495/581,381/467,449/461	139715640	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139715640G>A	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.1344G>A	7.37:g.139715640G>A						TBXAS1_uc003vvh.2_Silent_p.P449P|TBXAS1_uc010lne.2_Silent_p.P381P|TBXAS1_uc011kqu.1_Silent_p.P400P|TBXAS1_uc003vvi.2_Silent_p.P449P|TBXAS1_uc003vvj.2_Silent_p.P449P|TBXAS1_uc011kqw.1_Silent_p.P429P	p.P495P	NM_001130966	NP_001124438	P24557	THAS_HUMAN			12	1649	+	Melanoma(164;0.0142)		448			Cytoplasmic (Potential).		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Silent	SNP	ENST00000336425.5	37	c.1485G>A																																																																																					PASS	0.597	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1			4	121	4	121	---	---	---	---
MKRN1	23608	broad.mit.edu	37	7	140155025	140155025	+	Missense_Mutation	SNP	G	G	A	rs373781587		TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr7:140155025G>A	ENST00000255977.2	-	7	1330	c.1106C>T	c.(1105-1107)gCg>gTg	p.A369V	MKRN1_ENST00000474576.1_Missense_Mutation_p.A305V|MKRN1_ENST00000437223.2_Missense_Mutation_p.A103V	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	369					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A369V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					ATACCTGCACGCCTTGTTGCT	0.473																																						uc003vvt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1105-1107)GCG>GTG		makorin ring finger protein 1 isoform 1		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	97.0	96.0	97.0		1106	4.0	1.0	7		97	0,8600		0,0,4300	no	missense	MKRN1	NM_013446.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	369/483	140155025	1,13005	2203	4300	6503	SO:0001583	missense	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140155025G>A	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.1106C>T	7.37:g.140155025G>A	ENSP00000255977:p.Ala369Val					MKRN1_uc003vvs.2_Missense_Mutation_p.A305V|MKRN1_uc011krd.1_Missense_Mutation_p.A103V	p.A369V	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN			7	1331	-	Melanoma(164;0.00956)		369			C3H1-type 4.		A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Missense_Mutation	SNP	ENST00000255977.2	37	c.1106C>T	CCDS5860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.99|14.99	2.700976|2.700976	0.48307|0.48307	2.27E-4|2.27E-4	0.0|0.0	ENSG00000133606|ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000437223;ENST00000474576|ENST00000463142	T;T;T|.	0.44083|.	0.93;1.47;0.93|.	4.89|4.89	4.01|4.01	0.46588|0.46588	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, CCCH-type (2);|.	0.326056|.	0.32918|.	N|.	0.005486|.	T|T	0.63248|0.63248	0.2495|0.2495	L|L	0.50333|0.50333	1.59|1.59	0.38918|0.38918	D|D	0.957688|0.957688	B|.	0.34313|.	0.448|.	B|.	0.23018|.	0.043|.	T|T	0.69168|0.69168	-0.5216|-0.5216	10|6	0.28530|0.87932	T|D	0.3|0	.|.	13.1259|13.1259	0.59354|0.59354	0.0769:0.0:0.923:0.0|0.0769:0.0:0.923:0.0	.|.	369|.	Q9UHC7|.	MKRN1_HUMAN|.	V|C	369;305;103;305|22	ENSP00000255977:A369V;ENSP00000439823:A103V;ENSP00000417863:A305V|.	ENSP00000255977:A369V|ENSP00000417346:R22C	A|R	-|-	2|1	0|0	MKRN1|MKRN1	139801494|139801494	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.330000|7.330000	0.79181|0.79181	1.280000|1.280000	0.44463|0.44463	0.650000|0.650000	0.86243|0.86243	GCG|CGT		PASS	0.473	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		6	285	6	285	---	---	---	---
PRSS55	203074	broad.mit.edu	37	8	10387042	10387042	+	Silent	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr8:10387042G>A	ENST00000328655.3	+	2	220	c.180G>A	c.(178-180)gaG>gaA	p.E60E	PRSS55_ENST00000522210.1_Silent_p.E60E|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	60						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.E60E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CTATTTTCGAGGGAAGAACTC	0.517																																						uc003wta.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(178-180)GAG>GAA		hypothetical protein LOC203074 precursor							152.0	154.0	153.0					8																	10387042		2203	4300	6503	SO:0001819	synonymous_variant	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10387042G>A	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.180G>A	8.37:g.10387042G>A						uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA	p.E60E	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN			2	195	+			60			Extracellular (Potential).		E5RJX5	Silent	SNP	ENST00000328655.3	37	c.180G>A	CCDS5976.1																																																																																				PASS	0.517	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		37	280	37	280	---	---	---	---
GPR124	25960	broad.mit.edu	37	8	37704488	37704488	+	IGR	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr8:37704488C>A	ENST00000412232.2	+	0	5651				BRF2_ENST00000220659.6_Silent_p.T140T|BRF2_ENST00000521170.1_3'UTR|BRF2_ENST00000520601.1_Silent_p.T140T	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T140T(2)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CATACAACAGCGTGCAGATGG	0.527																																						uc003xkk.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(418-420)ACG>ACT		RNA polymerase III transcription initiation							230.0	213.0	219.0					8																	37704488		2203	4300	6503	SO:0001628	intergenic_variant	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37704488C>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182		8.37:g.37704488C>A							p.T140T	NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		3	530	-		Lung NSC(58;0.118)|all_lung(54;0.195)	140			1.		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.420G>T	CCDS6097.2																																																																																				PASS	0.527	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			79	593	79	593	---	---	---	---
GOT1L1	137362	broad.mit.edu	37	8	37794297	37794297	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr8:37794297A>G	ENST00000307599.4	-	6	803	c.704T>C	c.(703-705)gTg>gCg	p.V235A	GOT1L1_ENST00000518826.1_5'UTR	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	235					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.V235A(2)		central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			gccttgagacacaaagtattg	0.418																																						uc011lbj.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(703-705)GTG>GCG		glutamic-oxaloacetic transaminase 1-like 1							70.0	68.0	69.0					8																	37794297		1887	4115	6002	SO:0001583	missense	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37794297A>G	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.704T>C	8.37:g.37794297A>G	ENSP00000303077:p.Val235Ala						p.V235A	NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		6	804	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	235					A8MWL4	Missense_Mutation	SNP	ENST00000307599.4	37	c.704T>C	CCDS47839.1	.	.	.	.	.	.	.	.	.	.	A	8.962	0.970840	0.18659	.	.	ENSG00000169154	ENST00000307599	D	0.92249	-3.0	4.86	3.69	0.42338	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.186906	0.33772	N	0.004569	D	0.87099	0.6093	L	0.45698	1.435	0.80722	D	1	B	0.25312	0.123	B	0.23574	0.047	T	0.80917	-0.1168	10	0.40728	T	0.16	-6.3004	7.2629	0.26214	0.8971:0.0:0.1029:0.0	.	235	Q8NHS2	AATC2_HUMAN	A	235	ENSP00000303077:V235A	ENSP00000303077:V235A	V	-	2	0	GOT1L1	37913455	1.000000	0.71417	0.820000	0.32676	0.305000	0.27757	5.661000	0.68025	0.709000	0.31976	0.533000	0.62120	GTG		PASS	0.418	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		13	64	13	64	---	---	---	---
ASH2L	9070	broad.mit.edu	37	8	37968287	37968287	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr8:37968287C>T	ENST00000343823.6	+	5	830	c.521C>T	c.(520-522)gCc>gTc	p.A174V	ASH2L_ENST00000521652.1_Missense_Mutation_p.A80V|ASH2L_ENST00000545394.1_Missense_Mutation_p.A35V|ASH2L_ENST00000250635.7_Missense_Mutation_p.A80V|ASH2L_ENST00000524263.1_3'UTR|ASH2L_ENST00000428278.2_Missense_Mutation_p.A80V	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	174	DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.A174V(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				AGTGCTTTGGCCAACCTGACA	0.403																																						uc003xkt.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(520-522)GCC>GTC		ash2-like isoform a							124.0	101.0	109.0					8																	37968287		2203	4300	6503	SO:0001583	missense	9070				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	g.chr8:37968287C>T	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.521C>T	8.37:g.37968287C>T	ENSP00000340896:p.Ala174Val					ASH2L_uc011lbk.1_Missense_Mutation_p.A35V|ASH2L_uc003xku.3_Missense_Mutation_p.A80V|ASH2L_uc010lwa.2_Missense_Mutation_p.A80V	p.A174V	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN			5	579	+	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)	174					A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	c.521C>T	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	C	35	5.480213	0.96307	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000517719;ENST00000545394;ENST00000428278;ENST00000521652	T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.54271	0.1848	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.967	T	0.60682	-0.7215	10	0.72032	D	0.01	.	18.2068	0.89857	0.0:1.0:0.0:0.0	.	80;174	Q9UBL3-2;Q9UBL3	.;ASH2L_HUMAN	V	174;80;188;35;80;80	ENSP00000340896:A174V;ENSP00000250635:A80V;ENSP00000428877:A188V;ENSP00000443606:A35V;ENSP00000395310:A80V;ENSP00000430259:A80V	ENSP00000250635:A80V	A	+	2	0	ASH2L	38087444	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.529000	0.81952	2.343000	0.79666	0.561000	0.74099	GCC		PASS	0.403	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674		3	50	3	50	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38146064	38146064	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr8:38146064C>T	ENST00000317025.8	-	19	3959	c.3442G>A	c.(3442-3444)Gag>Aag	p.E1148K	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.E1148K|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.E1099K	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1148	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.E1148K(1)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTGATGATCTCTGCATCAGGG	0.532			T	NUP98	AML																																	uc003xli.2				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(3442-3444)GAG>AAG		WHSC1L1 protein isoform long							120.0	118.0	119.0					8																	38146064		1952	4164	6116	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38146064C>T	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3442G>A	8.37:g.38146064C>T	ENSP00000313983:p.Glu1148Lys					WHSC1L1_uc011lbm.1_Missense_Mutation_p.E1148K|WHSC1L1_uc010lwe.2_Missense_Mutation_p.E1099K	p.E1148K	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		19	3960	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	1148			SET.		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.3442G>A	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348960	0.82132	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.90676	-2.71;-2.71;-2.71	6.08	6.08	0.98989	SET domain (2);	0.000000	0.48767	U	0.000162	D	0.94052	0.8094	L	0.54965	1.715	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.993	D;D;D	0.79108	0.982;0.992;0.982	D	0.90782	0.4680	10	0.21540	T	0.41	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	1148;1099;1148	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	K	1099;1148;1085;1148	ENSP00000393284:E1099K;ENSP00000313983:E1148K;ENSP00000434730:E1148K	ENSP00000313983:E1148K	E	-	1	0	WHSC1L1	38265221	1.000000	0.71417	0.976000	0.42696	0.983000	0.72400	5.999000	0.70665	2.894000	0.99253	0.591000	0.81541	GAG		PASS	0.532	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		114	817	114	817	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38146112	38146112	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr8:38146112C>T	ENST00000317025.8	-	19	3911	c.3394G>A	c.(3394-3396)Gat>Aat	p.D1132N	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.D1132N|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.D1083N	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1132	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.				histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.D1132N(1)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGACAACGATCTCCAGCTGGG	0.517			T	NUP98	AML																																	uc003xli.2				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(3394-3396)GAT>AAT		WHSC1L1 protein isoform long							108.0	108.0	108.0					8																	38146112		2010	4228	6238	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38146112C>T	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3394G>A	8.37:g.38146112C>T	ENSP00000313983:p.Asp1132Asn					WHSC1L1_uc011lbm.1_Missense_Mutation_p.D1132N|WHSC1L1_uc010lwe.2_Missense_Mutation_p.D1083N	p.D1132N	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		19	3912	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	1132			AWS.		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.3394G>A	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896175	0.91962	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.89485	-2.52;-2.52;-2.52	6.17	6.17	0.99709	AWS (2);	0.494819	0.16797	U	0.199142	D	0.89959	0.6866	L	0.60904	1.88	0.80722	D	1	B;B;B	0.30584	0.189;0.286;0.189	B;B;B	0.36289	0.11;0.221;0.11	D	0.86512	0.1810	10	0.51188	T	0.08	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1132;1083;1132	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	N	1083;1132;1069;1132	ENSP00000393284:D1083N;ENSP00000313983:D1132N;ENSP00000434730:D1132N	ENSP00000313983:D1132N	D	-	1	0	WHSC1L1	38265269	1.000000	0.71417	0.798000	0.32154	0.948000	0.59901	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.517	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		73	826	73	826	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38146142	38146142	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr8:38146142C>T	ENST00000317025.8	-	19	3881	c.3364G>A	c.(3364-3366)Gaa>Aaa	p.E1122K	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.E1122K|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.E1073K	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1122	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.				histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.E1122K(1)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GGGTGGCATTCATACTGCAAC	0.517			T	NUP98	AML																																	uc003xli.2				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(3364-3366)GAA>AAA		WHSC1L1 protein isoform long							105.0	104.0	104.0					8																	38146142		2013	4230	6243	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38146142C>T	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3364G>A	8.37:g.38146142C>T	ENSP00000313983:p.Glu1122Lys					WHSC1L1_uc011lbm.1_Missense_Mutation_p.E1122K|WHSC1L1_uc010lwe.2_Missense_Mutation_p.E1073K	p.E1122K	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		19	3882	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	1122			AWS.		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.3364G>A	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146390	0.94603	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.93763	-3.28;-3.28;-3.28	6.17	6.17	0.99709	AWS (2);	0.000000	0.48767	U	0.000173	D	0.97676	0.9238	M	0.91717	3.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.97580	1.0110	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1122;1073;1122	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	K	1073;1122;1059;1122	ENSP00000393284:E1073K;ENSP00000313983:E1122K;ENSP00000434730:E1122K	ENSP00000313983:E1122K	E	-	1	0	WHSC1L1	38265299	1.000000	0.71417	0.974000	0.42286	0.385000	0.30292	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.517	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		78	818	78	818	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38146156	38146156	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr8:38146156C>T	ENST00000317025.8	-	19	3867	c.3350G>A	c.(3349-3351)aGa>aAa	p.R1117K	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R1117K|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R1068K	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1117	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.				histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.R1117K(1)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTGCAACATTCTGTTCAGGCA	0.512			T	NUP98	AML																																	uc003xli.2				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(3349-3351)AGA>AAA		WHSC1L1 protein isoform long							101.0	101.0	101.0					8																	38146156		2015	4231	6246	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38146156C>T	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3350G>A	8.37:g.38146156C>T	ENSP00000313983:p.Arg1117Lys					WHSC1L1_uc011lbm.1_Missense_Mutation_p.R1117K|WHSC1L1_uc010lwe.2_Missense_Mutation_p.R1068K	p.R1117K	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		19	3868	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	1117			AWS.		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.3350G>A	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	37	5.996930	0.97184	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.90324	-2.65;-2.65;-2.65	6.17	6.17	0.99709	AWS (2);	0.000000	0.47455	U	0.000226	D	0.97359	0.9136	H	0.96777	3.88	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.996	D;D;D	0.79784	0.985;0.993;0.985	D	0.97590	1.0116	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1117;1068;1117	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	K	1068;1117;1054;1117	ENSP00000393284:R1068K;ENSP00000313983:R1117K;ENSP00000434730:R1117K	ENSP00000313983:R1117K	R	-	2	0	WHSC1L1	38265313	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	6.070000	0.71220	2.941000	0.99782	0.655000	0.94253	AGA		PASS	0.512	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		79	773	79	773	---	---	---	---
ANK1	286	broad.mit.edu	37	8	41547781	41547781	+	Silent	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr8:41547781G>T	ENST00000347528.4	-	33	4151	c.4068C>A	c.(4066-4068)ctC>ctA	p.L1356L	ANK1_ENST00000352337.4_Silent_p.L1356L|ANK1_ENST00000379758.2_Silent_p.L1356L|ANK1_ENST00000265709.8_Silent_p.L1397L|ANK1_ENST00000396942.1_Silent_p.L1356L|ANK1_ENST00000396945.1_Silent_p.L1356L|ANK1_ENST00000289734.7_Silent_p.L1356L	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1356	UPA domain. {ECO:0000250}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.L1356L(1)|p.L1397L(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCAGGTGGCAGAGAATGTGCT	0.607																																						uc003xok.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(4066-4068)CTC>CTA		ankyrin 1 isoform 1							130.0	107.0	115.0					8																	41547781		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41547781G>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4068C>A	8.37:g.41547781G>T						NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Silent_p.L672L|ANK1_uc003xoi.2_Silent_p.L1356L|ANK1_uc003xoj.2_Silent_p.L1356L|ANK1_uc003xol.2_Silent_p.L1356L|ANK1_uc003xom.2_Silent_p.L1397L	p.L1356L	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		33	4152	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1356					A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.4068C>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	9.700	1.154180	0.21371	.	.	ENSG00000029534	ENST00000520299	T	0.25579	1.79	5.08	3.21	0.36854	.	0.068120	0.64402	D	0.000011	T	0.37128	0.0992	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.11591	-1.0581	7	0.72032	D	0.01	.	8.2787	0.31887	0.0795:0.3032:0.6174:0.0	.	.	.	.	M	678	ENSP00000430174:L678M	ENSP00000430174:L678M	L	-	1	2	ANK1	41666938	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	0.879000	0.28146	0.656000	0.30886	0.563000	0.77884	CTG		PASS	0.607	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		4	169	4	169	---	---	---	---
AP3M2	10947	broad.mit.edu	37	8	42023010	42023010	+	Silent	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr8:42023010G>A	ENST00000518421.1	+	7	1026	c.735G>A	c.(733-735)gaG>gaA	p.E245E	AP3M2_ENST00000174653.3_Silent_p.E245E|AP3M2_ENST00000396926.3_Silent_p.E245E|AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000517922.1_Silent_p.E245E	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	245	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)		p.E245E(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GGGAATCTGAGCGCATCCTCT	0.478																																						uc003xop.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(733-735)GAG>GAA		adaptor-related protein complex 3, mu 2 subunit							265.0	216.0	233.0					8																	42023010		2203	4300	6503	SO:0001819	synonymous_variant	10947				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus		g.chr8:42023010G>A	D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.735G>A	8.37:g.42023010G>A						AP3M2_uc003xoo.2_Silent_p.E245E|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Silent_p.E130E|AP3M2_uc003xor.1_Silent_p.E245E	p.E245E	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		7	1026	+	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	245			MHD.		B2RCR0|D3DSY2|Q7Z472	Silent	SNP	ENST00000518421.1	37	c.735G>A	CCDS6125.1																																																																																				PASS	0.478	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1			16	376	16	376	---	---	---	---
TERF1	7013	broad.mit.edu	37	8	73932953	73932953	+	Silent	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr8:73932953C>T	ENST00000276603.5	+	3	473	c.450C>T	c.(448-450)ccC>ccT	p.P150P	RNU6-285P_ENST00000410556.1_RNA|TERF1_ENST00000276602.6_Silent_p.P150P	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	150	TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)	p.P150P(2)		central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GAATTACACCCTTGGAATCAG	0.294																																						uc003xzd.2																			2	Substitution - coding silent(2)	p.P150S(1)	lung(2)	ovary(1)|lung(1)|skin(1)	3						c.(448-450)CCC>CCT		telomeric repeat binding factor 1 isoform 1							49.0	49.0	49.0					8																	73932953		2202	4294	6496	SO:0001819	synonymous_variant	7013				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding	g.chr8:73932953C>T	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.450C>T	8.37:g.73932953C>T						TERF1_uc003xzc.2_RNA|TERF1_uc003xze.2_Silent_p.P150P	p.P150P	NM_017489	NP_059523	P54274	TERF1_HUMAN	Epithelial(68;0.0984)		3	475	+	Breast(64;0.218)		150			TRFH dimerization.		A7XP29|Q15553|Q8NHT6|Q93029	Silent	SNP	ENST00000276603.5	37	c.450C>T	CCDS6211.1																																																																																				PASS	0.294	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489		11	53	11	53	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77765924	77765924	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr8:77765924T>C	ENST00000521891.2	+	10	7215	c.6767T>C	c.(6766-6768)aTa>aCa	p.I2256T	ZFHX4_ENST00000050961.6_Missense_Mutation_p.I2211T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.I2230T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.I2211T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2211					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.I2240T(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GATGATGAAATAGAACAACTC	0.408										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(6631-6633)ATA>ACA		zinc finger homeodomain 4							81.0	77.0	78.0					8																	77765924		1871	4105	5976	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77765924T>C		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.6767T>C	8.37:g.77765924T>C	ENSP00000430497:p.Ile2256Thr	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.I2256T|ZFHX4_uc003yaw.1_Missense_Mutation_p.I2211T	p.I2211T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7019	+			2211			Homeobox 2.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.6632T>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	15.82	2.946003	0.53079	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13	4.05	4.05	0.47172	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.47455	U	0.000234	D	0.97204	0.9086	L	0.59436	1.845	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.994;0.994	D	0.97420	1.0008	10	0.59425	D	0.04	.	13.4444	0.61131	0.0:0.0:0.0:1.0	.	2211;2211;2256	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	T	2256;2240;2211;2211;2230	ENSP00000430497:I2256T;ENSP00000399605:I2211T;ENSP00000050961:I2211T;ENSP00000430848:I2230T	ENSP00000050961:I2211T	I	+	2	0	ZFHX4	77928479	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.762000	0.85270	1.840000	0.53500	0.454000	0.30748	ATA		PASS	0.408	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		5	35	5	35	---	---	---	---
HAS2	3037	broad.mit.edu	37	8	122640991	122640991	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr8:122640991G>A	ENST00000303924.4	-	2	1127	c.590C>T	c.(589-591)gCc>gTc	p.A197V		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	197					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)	p.A197V(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TGCTCTGAAGGCTGTGTACAT	0.433																																						uc003yph.2																		HAS2/PLAG1(10)	1	Substitution - Missense(1)		lung(1)	soft_tissue(10)|ovary(5)	15						c.(589-591)GCC>GTC		hyaluronan synthase 2							179.0	164.0	169.0					8																	122640991		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122640991G>A	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.590C>T	8.37:g.122640991G>A	ENSP00000306991:p.Ala197Val						p.A197V	NM_005328	NP_005319	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	1128	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		197			Cytoplasmic (Potential).		Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.590C>T	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579397	0.86645	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.63580	-0.05	5.87	5.87	0.94306	.	0.044972	0.85682	D	0.000000	T	0.79405	0.4440	M	0.72894	2.215	0.58432	D	0.999999	D	0.69078	0.997	D	0.66716	0.946	T	0.79562	-0.1752	10	0.87932	D	0	-19.779	20.5827	0.99408	0.0:0.0:1.0:0.0	.	197	Q92819	HAS2_HUMAN	V	197	ENSP00000306991:A197V	ENSP00000306991:A197V	A	-	2	0	HAS2	122710172	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCC		PASS	0.433	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		52	297	52	297	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125072483	125072483	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr8:125072483C>A	ENST00000522917.1	+	23	3143	c.2937C>A	c.(2935-2937)taC>taA	p.Y979*	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Nonsense_Mutation_p.Y979*|FER1L6-AS2_ENST00000601180.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	979						integral component of membrane (GO:0016021)		p.Y979*(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCCAGATCTACCCGGTTCCTG	0.582																																						uc003yqw.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.(2935-2937)TAC>TAA		fer-1-like 6							101.0	113.0	109.0					8																	125072483		2199	4298	6497	SO:0001587	stop_gained	654463					integral to membrane		g.chr8:125072483C>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2937C>A	8.37:g.125072483C>A	ENSP00000428280:p.Tyr979*					uc003yqy.1_RNA	p.Y979*	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		23	3143	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		979			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000522917.1	37	c.2937C>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	41	8.909954	0.99000	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	.	.	.	5.65	1.28	0.21552	.	0.078078	0.53938	U	0.000059	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.855	9.0616	0.36438	0.0:0.5379:0.0:0.4621	.	.	.	.	X	979	.	ENSP00000381982:Y979X	Y	+	3	2	FER1L6	125141664	0.995000	0.38212	0.998000	0.56505	0.791000	0.44710	0.394000	0.20834	0.336000	0.23639	-0.136000	0.14681	TAC		PASS	0.582	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		54	238	54	238	---	---	---	---
DMRT1	1761	broad.mit.edu	37	9	968063	968063	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr9:968063A>G	ENST00000382276.3	+	5	1195	c.1046A>G	c.(1045-1047)aAg>aGg	p.K349R	DMRT1_ENST00000569227.1_Missense_Mutation_p.K191R	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	349					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K349R(1)		large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		AAGAGCACAAAGGCAGTGCTT	0.567																																						uc003zgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1045-1047)AAG>AGG		doublesex and mab-3 related transcription factor							68.0	61.0	63.0					9																	968063		2203	4300	6503	SO:0001583	missense	1761				cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:968063A>G	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.1046A>G	9.37:g.968063A>G	ENSP00000371711:p.Lys349Arg						p.K349R	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN		Lung(218;0.037)	5	1195	+		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)	349					B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	ENST00000382276.3	37	c.1046A>G	CCDS6442.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.033617	0.75504	.	.	ENSG00000137090	ENST00000382276	T	0.23754	1.89	5.49	5.49	0.81192	.	0.293662	0.33732	N	0.004615	T	0.50103	0.1596	M	0.69823	2.125	0.39339	D	0.965549	D	0.69078	0.997	D	0.75020	0.985	T	0.51411	-0.8709	10	0.44086	T	0.13	.	15.8844	0.79232	1.0:0.0:0.0:0.0	.	349	Q9Y5R6	DMRT1_HUMAN	R	349	ENSP00000371711:K349R	ENSP00000371711:K349R	K	+	2	0	DMRT1	958063	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.076000	0.71267	2.218000	0.71995	0.533000	0.62120	AAG		PASS	0.567	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951		15	67	15	67	---	---	---	---
BNC2	54796	broad.mit.edu	37	9	16552593	16552593	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr9:16552593C>A	ENST00000380672.4	-	5	661	c.604G>T	c.(604-606)Gta>Tta	p.V202L	BNC2_ENST00000380666.2_Missense_Mutation_p.V202L|BNC2_ENST00000545497.1_Missense_Mutation_p.V107L|BNC2_ENST00000380667.2_Missense_Mutation_p.V135L	NM_017637.5	NP_060107.3			basonuclin 2									p.V202L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ATGTGCAGTACCTCCTCTTGC	0.577																																						uc003zml.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(604-606)GTA>TTA		basonuclin 2							108.0	79.0	88.0					9																	16552593		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16552593C>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.604G>T	9.37:g.16552593C>A	ENSP00000370047:p.Val202Leu					BNC2_uc011lmw.1_Missense_Mutation_p.V107L|BNC2_uc003zmm.2_Missense_Mutation_p.V160L|BNC2_uc003zmq.1_Missense_Mutation_p.V216L|BNC2_uc003zmr.1_Missense_Mutation_p.V239L|BNC2_uc003zmp.1_Missense_Mutation_p.V230L|BNC2_uc010mij.1_Missense_Mutation_p.V124L|BNC2_uc011lmv.1_Missense_Mutation_p.V28L|BNC2_uc003zmo.1_Missense_Mutation_p.V124L	p.V202L	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	5	744	-			202						Missense_Mutation	SNP	ENST00000380672.4	37	c.604G>T	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	36	5.820733	0.96989	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.03580	3.88;3.88;3.88;3.88;3.88	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.21022	0.0506	M	0.74258	2.255	0.80722	D	1	D;P;D;D;D;D;D	0.89917	1.0;0.915;0.968;0.99;1.0;0.984;0.965	D;P;D;D;D;D;D	0.85130	0.994;0.878;0.963;0.986;0.997;0.935;0.914	T	0.00005	-1.2527	10	0.87932	D	0	-19.9999	20.6721	0.99693	0.0:1.0:0.0:0.0	.	107;135;239;202;28;160;202	F5H586;B1APH0;Q06HC4;Q6ZN30-2;B4E3J2;Q5H9S4;Q6ZN30	.;.;.;.;.;.;BNC2_HUMAN	L	202;159;239;230;135;107;28;202;202	ENSP00000370047:V202L;ENSP00000408370:V159L;ENSP00000370042:V135L;ENSP00000444640:V107L;ENSP00000370041:V202L	ENSP00000370041:V202L	V	-	1	0	BNC2	16542593	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GTA		PASS	0.577	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		38	96	38	96	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32633383	32633383	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr9:32633383C>A	ENST00000242310.4	-	1	2284	c.2195G>T	c.(2194-2196)gGa>gTa	p.G732V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	732					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.G732V(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCTGGTGCTCCAGGATCTTT	0.438																																						uc003zrg.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(2194-2196)GGA>GTA		TBP-associated factor RNA polymerase 1-like							170.0	169.0	169.0					9																	32633383		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633383C>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2195G>T	9.37:g.32633383C>A	ENSP00000418379:p.Gly732Val					uc003zrh.1_5'Flank	p.G732V	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2285	-			732					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2195G>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.272632	0.40194	.	.	ENSG00000122728	ENST00000242310	T	0.13778	2.56	0.633	0.633	0.17712	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.26448	0.0646	M	0.62209	1.925	0.80722	D	1	D	0.67145	0.996	D	0.68483	0.958	T	0.02087	-1.1216	10	0.66056	D	0.02	.	7.0483	0.25059	0.0:0.9999:0.0:1.0E-4	.	732	Q8IZX4	TAF1L_HUMAN	V	732	ENSP00000418379:G732V	ENSP00000418379:G732V	G	-	2	0	TAF1L	32623383	1.000000	0.71417	0.990000	0.47175	0.850000	0.48378	4.970000	0.63742	0.632000	0.30432	0.195000	0.17529	GGA		PASS	0.438	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			60	180	60	180	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79270405	79270405	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr9:79270405C>A	ENST00000376718.3	-	10	8413	c.8290G>T	c.(8290-8292)Gat>Tat	p.D2764Y	PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000223609.6_Missense_Mutation_p.D28Y|PRUNE2_ENST00000443509.2_Missense_Mutation_p.D13Y|PRUNE2_ENST00000428286.1_Missense_Mutation_p.D2405Y	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2764					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.D2764Y(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATTCCTACATCCTCTGACAGT	0.468																																						uc010mpk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(8290-8292)GAT>TAT		prune homolog 2							67.0	59.0	61.0					9																	79270405		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79270405C>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8290G>T	9.37:g.79270405C>A	ENSP00000365908:p.Asp2764Tyr					PRUNE2_uc011lsk.1_Missense_Mutation_p.D13Y|PRUNE2_uc011lsl.1_Missense_Mutation_p.D28Y|PRUNE2_uc011lsm.1_Missense_Mutation_p.D28Y|PRUNE2_uc004akj.3_Missense_Mutation_p.D217Y|PRUNE2_uc010mpl.1_Missense_Mutation_p.D217Y	p.D2764Y	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			10	8414	-			2764					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.8290G>T	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.03|19.03	3.748461|3.748461	0.69533|0.69533	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376717;ENST00000376718;ENST00000428286;ENST00000443509;ENST00000223609;ENST00000422033|ENST00000426088	T;T;T;T;T|.	0.58652|.	0.5;0.32;0.35;0.5;0.55|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|.	0.64402|.	D|.	0.000015|.	T|T	0.71896|0.71896	0.3394|0.3394	M|M	0.64997|0.64997	1.995|1.995	0.40657|0.40657	D|D	0.982099|0.982099	B;D;B;D;D|.	0.89917|.	0.026;0.992;0.025;1.0;1.0|.	B;D;B;D;D|.	0.81914|.	0.017;0.922;0.008;0.995;0.994|.	T|T	0.70328|0.70328	-0.4902|-0.4902	10|5	0.20519|.	T|.	0.43|.	-30.7348|-30.7348	15.4422|15.4422	0.75195|0.75195	0.0:0.9316:0.0:0.0684|0.0:0.9316:0.0:0.0684	.|.	28;28;13;2764;2764|.	B4DSQ3;Q8WUY3-5;B4DJW7;Q8WUY3-3;Q8WUY3|.	.;.;.;.;PRUN2_HUMAN|.	Y|V	28;2764;2405;13;28;2763|2085	ENSP00000365907:D28Y;ENSP00000365908:D2764Y;ENSP00000397425:D2405Y;ENSP00000393843:D13Y;ENSP00000223609:D28Y|.	ENSP00000223609:D28Y|.	D|G	-|-	1|2	0|0	PRUNE2|PRUNE2	78460225|78460225	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	2.085000|2.085000	0.41634|0.41634	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GAT|GGA		PASS	0.468	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		5	24	5	24	---	---	---	---
RASEF	158158	broad.mit.edu	37	9	85615900	85615900	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr9:85615900C>A	ENST00000376447.3	-	10	1608	c.1348G>T	c.(1348-1350)Gac>Tac	p.D450Y		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	450					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.D450Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACTTCTGAGTCATACTCATTG	0.517																																						uc004amo.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						c.(1348-1350)GAC>TAC		RAS and EF-hand domain containing							89.0	80.0	83.0					9																	85615900		2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85615900C>A	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1348G>T	9.37:g.85615900C>A	ENSP00000365630:p.Asp450Tyr						p.D450Y	NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN			10	1609	-			450					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.1348G>T	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309146	0.81247	.	.	ENSG00000165105	ENST00000376447	T	0.68765	-0.35	5.92	5.02	0.67125	.	0.103681	0.64402	D	0.000005	T	0.77370	0.4120	M	0.62723	1.935	0.80722	D	1	D	0.61080	0.989	P	0.61800	0.894	T	0.80006	-0.1563	10	0.72032	D	0.01	.	14.6384	0.68706	0.0:0.9295:0.0:0.0704	.	450	Q8IZ41	RASEF_HUMAN	Y	450	ENSP00000365630:D450Y	ENSP00000365630:D450Y	D	-	1	0	RASEF	84805720	1.000000	0.71417	0.948000	0.38648	0.992000	0.81027	6.899000	0.75682	1.506000	0.48736	0.585000	0.79938	GAC		PASS	0.517	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		18	85	18	85	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	119158849	119158849	+	Missense_Mutation	SNP	C	C	A	rs537619729		TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr9:119158849C>A	ENST00000328252.3	+	22	5207	c.4838C>A	c.(4837-4839)gCc>gAc	p.A1613D	PAPPA_ENST00000483254.1_3'UTR|PAPPA_ENST00000534838.1_Missense_Mutation_p.A651D|AL137024.1_ENST00000401363.1_RNA	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1613					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A1613D(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GACCCCCAGGCCCAAGAACAC	0.522													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19251	0.0		0.0	False		,,,				2504	0.0					uc004bjn.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|pancreas(1)	9						c.(4837-4839)GCC>GAC		pregnancy-associated plasma protein A							161.0	148.0	153.0					9																	119158849		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119158849C>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.4838C>A	9.37:g.119158849C>A	ENSP00000330658:p.Ala1613Asp					PAPPA_uc011lxq.1_Missense_Mutation_p.A988D	p.A1613D	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			22	5219	+			1613					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.4838C>A	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370063	0.82573	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.07688	3.56;3.17	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.28632	0.0709	M	0.62723	1.935	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.961	T	0.00182	-1.1946	10	0.87932	D	0	-25.4646	18.0269	0.89272	0.0:1.0:0.0:0.0	.	651;1613	F5GZ19;Q13219	.;PAPP1_HUMAN	D	1613;651	ENSP00000330658:A1613D;ENSP00000441461:A651D	ENSP00000330658:A1613D	A	+	2	0	PAPPA	118198670	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.912000	0.69948	2.710000	0.92621	0.491000	0.48974	GCC		PASS	0.522	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		54	286	54	286	---	---	---	---
PPP1R26	9858	broad.mit.edu	37	9	138378128	138378128	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr9:138378128G>T	ENST00000356818.2	+	4	2321	c.1772G>T	c.(1771-1773)gGc>gTc	p.G591V	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Missense_Mutation_p.G591V|PPP1R26_ENST00000605660.1_Missense_Mutation_p.G591V|PPP1R26_ENST00000401470.3_Missense_Mutation_p.G591V|PPP1R26_ENST00000605286.1_Missense_Mutation_p.G591V	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	591					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.G591V(1)									CCACTGCTGGGCTGCAAAAGG	0.617																																						uc004cfr.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1771-1773)GGC>GTC		1A6/DRIM (down-regulated in metastasis)							49.0	54.0	53.0					9																	138378128		2202	4299	6501	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138378128G>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1772G>T	9.37:g.138378128G>T	ENSP00000349274:p.Gly591Val						p.G591V	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)	4	2321	+			591					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.1772G>T	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	G	5.518	0.280507	0.10458	.	.	ENSG00000196422	ENST00000356818	T	0.21932	1.98	5.55	1.66	0.24008	.	1.065780	0.07168	N	0.851956	T	0.13286	0.0322	N	0.22421	0.69	0.21020	N	0.999805	B	0.16802	0.019	B	0.15484	0.013	T	0.35025	-0.9805	10	0.34782	T	0.22	-1.2074	4.0612	0.09839	0.287:0.0:0.4577:0.2553	.	591	Q5T8A7	PPR26_HUMAN	V	591	ENSP00000349274:G591V	ENSP00000349274:G591V	G	+	2	0	KIAA0649	137517949	0.982000	0.34865	0.061000	0.19648	0.013000	0.08279	1.648000	0.37271	0.038000	0.15604	0.561000	0.74099	GGC		PASS	0.617	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		27	110	27	110	---	---	---	---
MTPAP	55149	broad.mit.edu	37	10	30604932	30604932	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr10:30604932C>A	ENST00000263063.4	-	8	1389	c.1346G>T	c.(1345-1347)gGc>gTc	p.G449V	MTPAP_ENST00000358107.4_Missense_Mutation_p.G579V|MTPAP_ENST00000488290.1_5'UTR	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	449	PAP-associated.				cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)	p.G449V(1)|p.G579V(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AGCAAAATTGCCAAAATACTC	0.289																																						uc001iva.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1345-1347)GGC>GTC		PAP associated domain containing 1 precursor							34.0	34.0	34.0					10																	30604932		2197	4295	6492	SO:0001583	missense	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30604932C>A	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1346G>T	10.37:g.30604932C>A	ENSP00000263063:p.Gly449Val					MTPAP_uc001ivb.3_Missense_Mutation_p.G579V	p.G449V	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN			8	1409	-			449			PAP-associated.		D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	c.1346G>T	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037965	0.54896	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	D;D	0.84442	-1.85;-1.85	5.87	5.87	0.94306	PAP/25A-associated (1);	0.057631	0.64402	D	0.000001	D	0.91626	0.7354	M	0.65975	2.015	0.80722	D	1	D;D	0.65815	0.995;0.987	P;D	0.66196	0.891;0.942	D	0.90443	0.4433	10	0.51188	T	0.08	-27.7526	20.5827	0.99408	0.0:1.0:0.0:0.0	.	579;449	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	V	579;449	ENSP00000350820:G579V;ENSP00000263063:G449V	ENSP00000263063:G449V	G	-	2	0	MTPAP	30644938	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	3.760000	0.55235	2.941000	0.99782	0.655000	0.94253	GGC		PASS	0.289	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		3	45	3	45	---	---	---	---
ITGB1	3688	broad.mit.edu	37	10	33217124	33217124	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr10:33217124T>C	ENST00000396033.2	-	5	580	c.445A>G	c.(445-447)Atg>Gtg	p.M149V	ITGB1_ENST00000302278.3_Missense_Mutation_p.M149V|ITGB1_ENST00000423113.1_Missense_Mutation_p.M149V|ITGB1_ENST00000484088.1_Intron|ITGB1_ENST00000374956.4_Missense_Mutation_p.M149V	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	149	VWFA.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)	p.M149V(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	GACAGGTCCATAAGGTAGTAG	0.368																																						uc001iws.3																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(445-447)ATG>GTG		integrin beta 1 isoform 1A precursor							151.0	149.0	150.0					10																	33217124		2203	4300	6503	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33217124T>C	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.445A>G	10.37:g.33217124T>C	ENSP00000379350:p.Met149Val					ITGB1_uc001iwp.3_Missense_Mutation_p.M149V|ITGB1_uc001iwq.3_Missense_Mutation_p.M149V|ITGB1_uc001iwr.3_Missense_Mutation_p.M149V|ITGB1_uc001iwt.3_Missense_Mutation_p.M149V|ITGB1_uc001iwu.1_Missense_Mutation_p.M149V	p.M149V	NM_133376	NP_596867	P05556	ITB1_HUMAN			5	581	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	149			Extracellular (Potential).|VWFA.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.445A>G	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.585129	0.66105	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956;ENST00000480226;ENST00000474568;ENST00000488494	D;D;D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57	6.07	6.07	0.98685	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.96703	0.8924	M	0.76002	2.32	0.80722	D	1	B;B;B;D;B	0.64830	0.126;0.22;0.095;0.994;0.162	B;B;B;P;B	0.62560	0.046;0.078;0.044;0.904;0.058	D	0.97021	0.9743	10	0.72032	D	0.01	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	149;149;149;149;149	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	V	149;149;149;149;149;92;152	ENSP00000379350:M149V;ENSP00000388694:M149V;ENSP00000303351:M149V;ENSP00000364094:M149V;ENSP00000417537:M149V;ENSP00000420282:M92V;ENSP00000418725:M152V	ENSP00000303351:M149V	M	-	1	0	ITGB1	33257130	1.000000	0.71417	0.964000	0.40570	0.801000	0.45260	8.013000	0.88655	2.326000	0.78906	0.533000	0.62120	ATG		PASS	0.368	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		47	230	47	230	---	---	---	---
RBP3	5949	broad.mit.edu	37	10	48390601	48390601	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr10:48390601G>A	ENST00000224600.4	-	1	390	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	93	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.P93S(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGGGTGCTGGGCTCATAGGAG	0.622																																						uc001jez.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(277-279)CCC>TCC		retinol-binding protein 3 precursor	Vitamin A(DB00162)						55.0	64.0	61.0					10																	48390601		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48390601G>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.277C>T	10.37:g.48390601G>A	ENSP00000224600:p.Pro93Ser						p.P93S	NM_002900	NP_002891	P10745	RET3_HUMAN			1	391	-			93			4 X approximate tandem repeats.|1.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.277C>T	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671578	0.88348	.	.	ENSG00000107618	ENST00000224600	T	0.64991	-0.13	5.71	5.71	0.89125	Interphotoreceptor retinol-binding, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86908	0.6046	H	0.96833	3.89	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.90811	0.4701	10	0.87932	D	0	-48.3687	18.848	0.92215	0.0:0.0:1.0:0.0	.	93	P10745	RET3_HUMAN	S	93	ENSP00000224600:P93S	ENSP00000224600:P93S	P	-	1	0	RBP3	48010607	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	7.448000	0.80631	2.710000	0.92621	0.655000	0.94253	CCC		PASS	0.622	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		37	173	37	173	---	---	---	---
BICC1	80114	broad.mit.edu	37	10	60573693	60573693	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr10:60573693A>G	ENST00000373886.3	+	18	2484	c.2480A>G	c.(2479-2481)cAt>cGt	p.H827R	BICC1_ENST00000263103.1_Missense_Mutation_p.H453R	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	827					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.H827R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CCTGGAAGTCATAGTGAATTT	0.448																																						uc001jki.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(2479-2481)CAT>CGT		bicaudal C homolog 1							178.0	163.0	168.0					10																	60573693		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60573693A>G	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2480A>G	10.37:g.60573693A>G	ENSP00000362993:p.His827Arg					BICC1_uc001jkj.1_Missense_Mutation_p.H468R	p.H827R	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			18	2480	+			827						Missense_Mutation	SNP	ENST00000373886.3	37	c.2480A>G	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	A	5.900	0.350153	0.11182	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.51071	1.7;0.72	6.03	0.593	0.17478	.	0.256618	0.45126	D	0.000393	T	0.37517	0.1006	L	0.36672	1.1	0.22342	N	0.999185	B;B	0.23735	0.09;0.09	B;B	0.21360	0.021;0.034	T	0.39683	-0.9602	10	0.62326	D	0.03	-0.8111	14.8744	0.70483	0.3364:0.6636:0.0:0.0	.	747;827	E7EU62;Q9H694	.;BICC1_HUMAN	R	827;453	ENSP00000362993:H827R;ENSP00000263103:H453R	ENSP00000263103:H453R	H	+	2	0	BICC1	60243699	0.963000	0.33076	0.200000	0.23457	0.595000	0.36748	2.771000	0.47670	0.127000	0.18452	0.533000	0.62120	CAT		PASS	0.448	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		39	184	39	184	---	---	---	---
RTKN2	219790	broad.mit.edu	37	10	63999436	63999436	+	Silent	SNP	T	T	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr10:63999436T>A	ENST00000373789.3	-	5	555	c.459A>T	c.(457-459)acA>acT	p.T153T	RTKN2_ENST00000395260.3_Silent_p.T153T|RTKN2_ENST00000395265.1_Silent_p.T153T	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	153					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.T153T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AACATATATCTGTGATTGTTT	0.269																																						uc001jlw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(457-459)ACA>ACT		rhotekin 2							38.0	33.0	35.0					10																	63999436		2198	4291	6489	SO:0001819	synonymous_variant	219790				signal transduction	intracellular		g.chr10:63999436T>A	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.459A>T	10.37:g.63999436T>A						RTKN2_uc001jlx.2_Silent_p.T153T	p.T153T	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN			5	556	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		153					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	ENST00000373789.3	37	c.459A>T	CCDS7263.1																																																																																				PASS	0.269	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		4	12	4	12	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	68979521	68979521	+	Silent	SNP	A	A	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr10:68979521A>G	ENST00000433211.2	-	6	861	c.687T>C	c.(685-687)tcT>tcC	p.S229S	CTNNA3_ENST00000373744.4_Silent_p.S229S|CTNNA3_ENST00000545309.1_Silent_p.S229S	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.S229S(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AAGCAACATCAGAATGCTCCA	0.418																																						uc009xpn.1																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(685-687)TCT>TCC		catenin, alpha 3							118.0	116.0	116.0					10																	68979521		2203	4300	6503	SO:0001819	synonymous_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68979521A>G	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.687T>C	10.37:g.68979521A>G						CTNNA3_uc001jmw.2_Silent_p.S229S|CTNNA3_uc001jmx.3_Silent_p.S229S|CTNNA3_uc009xpo.1_Silent_p.S89S|CTNNA3_uc001jna.2_Silent_p.S241S	p.S229S	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			6	810	-			229						Silent	SNP	ENST00000433211.2	37	c.687T>C	CCDS7269.1																																																																																				PASS	0.418	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		43	172	43	172	---	---	---	---
LGI1	9211	broad.mit.edu	37	10	95518045	95518045	+	Nonsense_Mutation	SNP	T	T	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr10:95518045T>A	ENST00000371418.4	+	1	404	c.144T>A	c.(142-144)tgT>tgA	p.C48*	LGI1_ENST00000371413.3_Nonsense_Mutation_p.C48*|LGI1_ENST00000478763.1_3'UTR|LGI1_ENST00000542308.1_Nonsense_Mutation_p.C48*	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	48	LRRNT.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)	p.C48*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TGTGTACTTGTACCAAAGATA	0.438																																						uc001kjc.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(142-144)TGT>TGA		leucine-rich, glioma inactivated 1 precursor							174.0	172.0	173.0					10																	95518045		2203	4300	6503	SO:0001587	stop_gained	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95518045T>A	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.144T>A	10.37:g.95518045T>A	ENSP00000360472:p.Cys48*					LGI1_uc010qnv.1_Nonsense_Mutation_p.C48*|LGI1_uc001kjd.3_Nonsense_Mutation_p.C48*|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_RNA	p.C48*	NM_005097	NP_005088	O95970	LGI1_HUMAN			1	480	+		Colorectal(252;0.124)	48			LRRNT.		A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Nonsense_Mutation	SNP	ENST00000371418.4	37	c.144T>A	CCDS7431.1	.	.	.	.	.	.	.	.	.	.	T	37	6.312526	0.97467	.	.	ENSG00000108231	ENST00000542308;ENST00000371418;ENST00000371413	.	.	.	4.99	3.84	0.44239	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1153	10.8952	0.47019	0.0:0.0845:0.0:0.9155	.	.	.	.	X	48	.	ENSP00000360467:C48X	C	+	3	2	LGI1	95508035	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.316000	0.43761	2.105000	0.64084	0.374000	0.22700	TGT		PASS	0.438	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		37	181	37	181	---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	96006091	96006091	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr10:96006091G>T	ENST00000371380.3	+	7	3044	c.2809G>T	c.(2809-2811)Gat>Tat	p.D937Y	PLCE1_ENST00000371385.3_Missense_Mutation_p.D629Y|PLCE1_ENST00000371375.1_Missense_Mutation_p.D629Y|PLCE1_ENST00000260766.3_Missense_Mutation_p.D937Y			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	937					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.D937Y(1)|p.D629Y(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGGGGTCTTGGATCTTTTTGC	0.458																																						uc001kjk.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(2809-2811)GAT>TAT		phospholipase C, epsilon 1 isoform 1							114.0	117.0	116.0					10																	96006091		1932	4139	6071	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96006091G>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2809G>T	10.37:g.96006091G>T	ENSP00000360431:p.Asp937Tyr					PLCE1_uc010qnx.1_Missense_Mutation_p.D937Y|PLCE1_uc001kjm.2_Missense_Mutation_p.D629Y	p.D937Y	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			8	3443	+		Colorectal(252;0.0458)	937					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.2809G>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118569	0.56505	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	6.04	5.13	0.70059	.	0.112098	0.64402	D	0.000019	T	0.68504	0.3008	L	0.59436	1.845	0.35887	D	0.829369	D;D;D	0.89917	1.0;0.993;0.999	D;D;D	0.66351	0.943;0.913;0.935	T	0.78170	-0.2308	10	0.87932	D	0	.	16.7417	0.85461	0.0:0.0:0.8697:0.1303	.	937;629;937	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	Y	937;937;629;629	ENSP00000260766:D937Y;ENSP00000360431:D937Y;ENSP00000360438:D629Y;ENSP00000360426:D629Y	ENSP00000260766:D937Y	D	+	1	0	PLCE1	95996081	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	5.968000	0.70413	1.558000	0.49541	0.585000	0.79938	GAT		PASS	0.458	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		40	174	40	174	---	---	---	---
COL17A1	1308	broad.mit.edu	37	10	105815545	105815545	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr10:105815545T>C	ENST00000353479.5	-	18	1972	c.1682A>G	c.(1681-1683)gAa>gGa	p.E561G	COL17A1_ENST00000369733.3_Missense_Mutation_p.E561G|COL17A1_ENST00000480127.1_5'UTR	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	561	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.E561G(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CTCACCATTTTCCTGTTCCAT	0.557																																						uc001kxr.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(1681-1683)GAA>GGA		alpha 1 type XVII collagen							87.0	89.0	88.0					10																	105815545		2203	4300	6503	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105815545T>C	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1682A>G	10.37:g.105815545T>C	ENSP00000340937:p.Glu561Gly					COL17A1_uc010qqv.1_Missense_Mutation_p.E545G	p.E561G	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	18	1851	-		Colorectal(252;0.103)|Breast(234;0.122)	561			Extracellular (Potential).|Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.1682A>G	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.448087	0.43429	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872	D;D	0.91740	-2.9;-2.88	5.1	3.97	0.46021	.	0.144833	0.30639	N	0.009188	T	0.82079	0.4959	N	0.14661	0.345	0.80722	D	1	B;B	0.20550	0.008;0.046	B;B	0.22601	0.011;0.04	T	0.71803	-0.4482	10	0.10902	T	0.67	-14.7081	9.5868	0.39521	0.0:0.0834:0.0:0.9166	.	561;561	Q9UMD9-2;Q9UMD9	.;COHA1_HUMAN	G	561;561;545	ENSP00000340937:E561G;ENSP00000358748:E561G	ENSP00000340937:E561G	E	-	2	0	COL17A1	105805535	0.672000	0.27530	0.382000	0.26119	0.063000	0.16089	2.306000	0.43673	0.809000	0.34255	0.379000	0.24179	GAA		PASS	0.557	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		16	76	16	76	---	---	---	---
ADAM12	8038	broad.mit.edu	37	10	127737858	127737858	+	Silent	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr10:127737858C>T	ENST00000368679.4	-	16	2199	c.1890G>A	c.(1888-1890)ggG>ggA	p.G630G	ADAM12_ENST00000467145.1_5'Flank|ADAM12_ENST00000368676.4_Silent_p.G630G	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	630	Cys-rich.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.G630G(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CAAGCACAAGCCCTGGGTCCG	0.517																																						uc001ljk.2																			3	Substitution - coding silent(3)		lung(3)	breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9						c.(1888-1890)GGG>GGA		ADAM metallopeptidase domain 12 isoform 1							193.0	198.0	196.0					10																	127737858		2203	4300	6503	SO:0001819	synonymous_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127737858C>T	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1890G>A	10.37:g.127737858C>T						ADAM12_uc010qul.1_Silent_p.G581G|ADAM12_uc001ljm.2_Silent_p.G630G|ADAM12_uc001ljn.2_Silent_p.G627G|ADAM12_uc001ljl.3_Silent_p.G627G	p.G630G	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	16	2303	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	630			Extracellular (Potential).|Cys-rich.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	c.1890G>A	CCDS7653.1																																																																																				PASS	0.517	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			79	514	79	514	---	---	---	---
CYP2E1	1571	broad.mit.edu	37	10	135342029	135342029	+	Silent	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr10:135342029G>T	ENST00000463117.2	+	4	494	c.222G>T	c.(220-222)tcG>tcT	p.S74S	SPRN_ENST00000541506.1_Intron|AL161645.2_ENST00000599428.1_Intron|CYP2E1_ENST00000480558.1_3'UTR|CYP2E1_ENST00000252945.3_Silent_p.S74S			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	74					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.S74S(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ACGTGGGCTCGCAGCGCATGG	0.682									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													uc001lnj.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)	3						c.(220-222)TCG>TCT		cytochrome P450, family 2, subfamily E,	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						75.0	60.0	65.0					10																	135342029		2203	4300	6503	SO:0001819	synonymous_variant	1571	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135342029G>T	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.222G>T	10.37:g.135342029G>T						CYP2E1_uc001lnk.1_Intron|CYP2E1_uc009ybl.1_Intron|CYP2E1_uc009ybm.1_Intron	p.S74S	NM_000773	NP_000764	P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	2	255	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	74					Q5VZD5|Q6NWT9|Q9UK47	Silent	SNP	ENST00000463117.2	37	c.222G>T	CCDS7686.1																																																																																				PASS	0.682	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		21	71	21	71	---	---	---	---
PIDD1	55367	broad.mit.edu	37	11	804285	804285	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr11:804285C>T	ENST00000347755.5	-	2	245	c.104G>A	c.(103-105)gGc>gAc	p.G35D	PIDD_ENST00000411829.2_Missense_Mutation_p.G35D|PIDD_ENST00000534649.1_5'UTR	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2												p.G35D(1)									CAGCCGGTTGCCGCCCAGGAA	0.662																																						uc001lro.1																			1	Substitution - Missense(1)		lung(1)		0						c.(103-105)GGC>GAC		leucine rich repeat and death domain containing							26.0	30.0	29.0					11																	804285		2203	4296	6499	SO:0001583	missense	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:804285C>T																												ENST00000347755.5:c.104G>A	11.37:g.804285C>T	ENSP00000337797:p.Gly35Asp					LRDD_uc009yck.1_5'Flank|LRDD_uc001lrk.1_Missense_Mutation_p.G35D|LRDD_uc001lrl.1_5'UTR|LRDD_uc001lrm.1_5'UTR|LRDD_uc001lrn.1_5'UTR|LRDD_uc001lrp.1_5'UTR	p.G35D	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	246	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	35						Missense_Mutation	SNP	ENST00000347755.5	37	c.104G>A	CCDS7716.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073288	0.36566	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.39997	1.13;1.05	3.37	3.37	0.38596	.	0.372474	0.20202	N	0.097072	T	0.20820	0.0501	N	0.08118	0	0.26058	N	0.981382	B;B	0.19331	0.021;0.035	B;B	0.24155	0.023;0.051	T	0.16988	-1.0384	10	0.15499	T	0.54	.	9.3943	0.38392	0.0:0.8792:0.0:0.1208	.	35;35	Q9HB75;Q9HB75-2	PIDD_HUMAN;.	D	35	ENSP00000416801:G35D;ENSP00000337797:G35D	ENSP00000337797:G35D	G	-	2	0	PIDD	794285	0.640000	0.27243	0.060000	0.19600	0.419000	0.31324	0.938000	0.28965	1.703000	0.51240	0.313000	0.20887	GGC		PASS	0.662	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1			3	50	3	50	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1276684	1276684	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr11:1276684G>A	ENST00000529681.1	+	37	16020	c.15962G>A	c.(15961-15963)aGg>aAg	p.R5321K	MUC5B_ENST00000447027.1_Missense_Mutation_p.R5324K	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5321					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.R5276K(1)|p.R5321K(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACCACTGCAGGGGCCGCCTT	0.667																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(16972-16974)AGG>AAG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							16.0	19.0	18.0					11																	1276684		1993	4145	6138	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1276684G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15962G>A	11.37:g.1276684G>A	ENSP00000436812:p.Arg5321Lys					MUC5B_uc001ltb.2_Missense_Mutation_p.R5324K	p.R5658K	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	59	17099	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5321					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.16973G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	8.576	0.881179	0.17467	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844	T;T	0.75938	-0.98;-0.98	3.59	-7.17	0.01511	.	.	.	.	.	T	0.53948	0.1828	N	0.17379	0.485	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.16722	0.016;0.007	T	0.47548	-0.9109	9	0.87932	D	0	.	9.2965	0.37819	0.3192:0.0:0.5715:0.1093	.	5658;5324	A7Y9J9;E9PBJ0	.;.	K	5321;5324;5265;220;5033	ENSP00000436812:R5321K;ENSP00000415793:R5324K	ENSP00000343037:R5265K	R	+	2	0	MUC5B	1233260	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.320000	0.01119	-2.111000	0.00836	-1.688000	0.00730	AGG		PASS	0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	10	3	10	---	---	---	---
OR52B4	143496	broad.mit.edu	37	11	4388864	4388864	+	Missense_Mutation	SNP	A	A	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr11:4388864A>C	ENST00000408920.2	-	1	752	c.662T>G	c.(661-663)aTg>aGg	p.M221R		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	221					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M221R(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGAATCAGCATATAGGAAAT	0.388																																						uc010qye.1																			1	Substitution - Missense(1)		lung(1)		0						c.(661-663)ATG>AGG		olfactory receptor, family 52, subfamily B,							105.0	105.0	105.0					11																	4388864		2004	4180	6184	SO:0001583	missense	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4388864A>C	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.662T>G	11.37:g.4388864A>C	ENSP00000386160:p.Met221Arg						p.M221R	NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	662	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	221			Cytoplasmic (Potential).		A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	c.662T>G	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	A	4.190	0.033875	0.08101	.	.	ENSG00000221996	ENST00000408920	T	0.00107	8.72	5.27	0.301	0.15781	GPCR, rhodopsin-like superfamily (1);	1.877400	0.04468	U	0.375527	T	0.00210	0.0006	L	0.55990	1.75	0.09310	N	1	B	0.23650	0.089	B	0.34346	0.18	T	0.36065	-0.9763	10	0.72032	D	0.01	.	5.955	0.19269	0.6406:0.1319:0.2275:0.0	.	221	Q8NGK2	O52B4_HUMAN	R	221	ENSP00000386160:M221R	ENSP00000386160:M221R	M	-	2	0	OR52B4	4345440	0.000000	0.05858	0.033000	0.17914	0.003000	0.03518	-0.231000	0.09069	0.470000	0.27294	0.459000	0.35465	ATG		PASS	0.388	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		27	91	27	91	---	---	---	---
OR52J3	119679	broad.mit.edu	37	11	5068293	5068293	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr11:5068293T>C	ENST00000380370.1	+	1	538	c.538T>C	c.(538-540)Tac>Cac	p.Y180H		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y180H(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCCCATTCCTACTGTGAGCA	0.418																																						uc010qyv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(538-540)TAC>CAC		olfactory receptor, family 52, subfamily J,							190.0	162.0	171.0					11																	5068293		2201	4298	6499	SO:0001583	missense	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5068293T>C	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.538T>C	11.37:g.5068293T>C	ENSP00000369728:p.Tyr180His						p.Y180H	NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	538	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	180			Extracellular (Potential).		Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	c.538T>C	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.373554	0.61624	.	.	ENSG00000205495	ENST00000380370	T	0.00174	8.62	4.19	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000651	T	0.00754	0.0025	M	0.94101	3.495	0.31016	N	0.718729	D	0.89917	1.0	D	0.97110	1.0	T	0.01972	-1.1237	10	0.87932	D	0	.	12.2358	0.54514	0.0:0.0:0.0:1.0	.	180	Q8NH60	O52J3_HUMAN	H	180	ENSP00000369728:Y180H	ENSP00000369728:Y180H	Y	+	1	0	OR52J3	5024869	0.999000	0.42202	1.000000	0.80357	0.917000	0.54804	5.725000	0.68507	1.742000	0.51746	0.533000	0.62120	TAC		PASS	0.418	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		13	192	13	192	---	---	---	---
TPP1	1200	broad.mit.edu	37	11	6637572	6637572	+	Missense_Mutation	SNP	C	C	T	rs199866669	byFrequency	TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr11:6637572C>T	ENST00000299427.6	-	8	1109	c.1049G>A	c.(1048-1050)cGg>cAg	p.R350Q	RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000534644.1_5'Flank|TPP1_ENST00000533371.1_Missense_Mutation_p.R107Q	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0					embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)	p.R350Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	GGTGAGACCCCGAGCGGCAGC	0.562													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18028	0.0		0.0	False		,,,				2504	0.0					uc001mel.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1048-1050)CGG>CAG		tripeptidyl-peptidase I preproprotein							107.0	108.0	108.0					11																	6637572		2201	4296	6497	SO:0001583	missense	1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6637572C>T	AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"""TPP I"""	607998	"""ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)"", ""spinocerebellar ataxia, autosomal recessive 7"""	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.1049G>A	11.37:g.6637572C>T	ENSP00000299427:p.Arg350Gln					TPP1_uc001mek.1_Missense_Mutation_p.R107Q	p.R350Q	NM_000391	NP_000382	O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	8	1110	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	350					Q71V64	Missense_Mutation	SNP	ENST00000299427.6	37	c.1049G>A	CCDS7770.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	26.9	4.782407	0.90282	.	.	ENSG00000166340	ENST00000299427;ENST00000533371	D;D	0.95001	-3.58;-3.58	5.54	5.54	0.83059	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.225614	0.45126	D	0.000394	D	0.96549	0.8874	M	0.62209	1.925	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.96792	0.9583	10	0.72032	D	0.01	-1.2984	16.6326	0.85038	0.0:1.0:0.0:0.0	.	350	O14773	TPP1_HUMAN	Q	350;107	ENSP00000299427:R350Q;ENSP00000437066:R107Q	ENSP00000299427:R350Q	R	-	2	0	TPP1	6594148	1.000000	0.71417	0.996000	0.52242	0.886000	0.51366	7.381000	0.79718	2.629000	0.89072	0.555000	0.69702	CGG		PASS	0.562	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2			9	180	9	180	---	---	---	---
HTATIP2	10553	broad.mit.edu	37	11	20404575	20404575	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr11:20404575A>G	ENST00000451739.2	+	5	994	c.553A>G	c.(553-555)Aga>Gga	p.R185G	HTATIP2_ENST00000531058.1_Missense_Mutation_p.R139G|HTATIP2_ENST00000443524.2_Missense_Mutation_p.R185G|HTATIP2_ENST00000421577.2_Missense_Mutation_p.R185G|HTATIP2_ENST00000419348.2_Missense_Mutation_p.R219G	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa									p.R185G(1)		large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ATGGCTGGTTAGAAAGTTCTT	0.438																																						uc009yia.1																			1	Substitution - Missense(1)		lung(1)		0						c.(553-555)AGA>GGA		HIV-1 Tat interactive protein 2, 30kDa isoform							76.0	61.0	66.0					11																	20404575		2203	4300	6503	SO:0001583	missense	10553				angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity	g.chr11:20404575A>G	AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	16637	protein-coding gene	gene with protein product	"""Tat-interacting protein (30kD)"", ""short chain dehydrogenase/reductase family 44U, member 1"""	605628	"""HIV-1 Tat interactive protein 2, 30 kDa"""			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.553A>G	11.37:g.20404575A>G	ENSP00000394259:p.Arg185Gly					HTATIP2_uc009yib.1_Missense_Mutation_p.R185G|HTATIP2_uc001mpx.2_Missense_Mutation_p.R219G|HTATIP2_uc001mpz.2_Missense_Mutation_p.R185G	p.R185G	NM_006410	NP_006401	Q9BUP3	HTAI2_HUMAN			6	619	+			185						Missense_Mutation	SNP	ENST00000451739.2	37	c.553A>G	CCDS7852.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.141163	0.56936	.	.	ENSG00000109854	ENST00000421577;ENST00000443524;ENST00000419348;ENST00000451739;ENST00000531058	T;T;T;T;T	0.28666	1.63;1.63;1.63;1.63;1.6	6.07	4.94	0.65067	NAD(P)-binding domain (1);	0.131916	0.64402	D	0.000001	T	0.38878	0.1057	L	0.35341	1.055	0.44073	D	0.996827	B;D	0.67145	0.105;0.996	B;P	0.60541	0.057;0.876	T	0.10064	-1.0646	10	0.41790	T	0.15	-27.5827	11.7468	0.51825	0.8522:0.1478:0.0:0.0	.	185;219	Q9BUP3;Q9BUP3-3	HTAI2_HUMAN;.	G	185;185;219;185;139	ENSP00000397752:R185G;ENSP00000387876:R185G;ENSP00000392985:R219G;ENSP00000394259:R185G;ENSP00000436729:R139G	ENSP00000392985:R219G	R	+	1	2	HTATIP2	20361151	1.000000	0.71417	0.904000	0.35570	0.309000	0.27889	4.925000	0.63425	1.096000	0.41439	-0.313000	0.08912	AGA		PASS	0.438	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387445.2	NM_001098521		11	61	11	61	---	---	---	---
OR4B1	119765	broad.mit.edu	37	11	48238463	48238463	+	Silent	SNP	T	T	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr11:48238463T>C	ENST00000309562.2	+	1	120	c.102T>C	c.(100-102)ctT>ctC	p.L34L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L34L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCGTGTACCTTGCCACGGTGG	0.512																																						uc010rhs.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(100-102)CTT>CTC		olfactory receptor, family 4, subfamily B,							245.0	201.0	216.0					11																	48238463		2201	4298	6499	SO:0001819	synonymous_variant	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48238463T>C	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.102T>C	11.37:g.48238463T>C							p.L34L	NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN			1	102	+			34			Helical; Name=1; (Potential).		Q6IF75|Q96R64	Silent	SNP	ENST00000309562.2	37	c.102T>C	CCDS31485.1																																																																																				PASS	0.512	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		32	243	32	243	---	---	---	---
OR4C3	256144	broad.mit.edu	37	11	48346728	48346728	+	Missense_Mutation	SNP	C	C	A	rs369587361		TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr11:48346728C>A	ENST00000319856.4	+	1	257	c.236C>A	c.(235-237)aCg>aAg	p.T79K		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T79K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCCAGCCCCACGCTGGCTTCC	0.448																																						uc010rhv.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(235-237)ACG>AAG		olfactory receptor, family 4, subfamily C,							145.0	124.0	131.0					11																	48346728		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346728C>A	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.236C>A	11.37:g.48346728C>A	ENSP00000321419:p.Thr79Lys						p.T79K	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			1	236	+			52			Cytoplasmic (Potential).		B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.236C>A	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	C	9.346	1.064218	0.20067	.	.	ENSG00000176547	ENST00000319856	T	0.00584	6.4	5.88	-0.484	0.12071	GPCR, rhodopsin-like superfamily (1);	0.914688	0.09142	N	0.842821	T	0.00552	0.0018	L	0.31578	0.945	0.09310	N	1	B	0.27971	0.196	B	0.34242	0.178	T	0.46665	-0.9175	10	0.56958	D	0.05	.	1.4969	0.02468	0.1205:0.3541:0.2478:0.2776	.	52	Q8NH37	OR4C3_HUMAN	K	79	ENSP00000321419:T79K	ENSP00000321419:T79K	T	+	2	0	OR4C3	48303304	0.000000	0.05858	0.001000	0.08648	0.180000	0.23129	-1.714000	0.01881	-0.318000	0.08665	0.549000	0.68633	ACG		PASS	0.448	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		5	188	5	188	---	---	---	---
OR4C13	283092	broad.mit.edu	37	11	49974694	49974694	+	Silent	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr11:49974694C>A	ENST00000555099.1	+	1	752	c.720C>A	c.(718-720)tcC>tcA	p.S240S		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H241N(1)|p.S240S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CCTGTGTCTCCCACATCACAG	0.458																																						uc010rhz.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	skin(3)|ovary(1)	4						c.(718-720)TCC>TCA		olfactory receptor, family 4, subfamily C,							183.0	159.0	167.0					11																	49974694		2201	4296	6497	SO:0001819	synonymous_variant	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974694C>A	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.720C>A	11.37:g.49974694C>A							p.S240S	NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN			1	720	+			240			Helical; Name=6; (Potential).		A6NJJ3|B9EH30|Q6IF48|Q96R68	Silent	SNP	ENST00000555099.1	37	c.720C>A	CCDS31495.1																																																																																				PASS	0.458	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		56	265	56	265	---	---	---	---
APLNR	187	broad.mit.edu	37	11	57003922	57003922	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr11:57003922G>C	ENST00000606794.1	-	1	753	c.557C>G	c.(556-558)tCc>tGc	p.S186C		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	186					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.S186C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GGCCACCATGGAGTAGTCCAT	0.617																																						uc001njo.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(1)	6						c.(556-558)TCC>TGC		apelin receptor							107.0	87.0	94.0					11																	57003922		2200	4292	6492	SO:0001583	missense	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57003922G>C	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.557C>G	11.37:g.57003922G>C	ENSP00000475344:p.Ser186Cys					APLNR_uc001njn.3_RNA	p.S186C	NM_005161	NP_005152	P35414	APJ_HUMAN			1	1006	-			186			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000606794.1	37	c.557C>G	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899844	0.52227	.	.	ENSG00000134817	ENST00000257254;ENST00000326830;ENST00000444275	T	0.72725	-0.68	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.294243	0.33732	N	0.004616	D	0.86493	0.5946	M	0.90425	3.115	0.32010	N	0.602183	D	0.89917	1.0	D	0.78314	0.991	D	0.89878	0.4028	10	0.87932	D	0	-36.6255	15.165	0.72818	0.0:0.1417:0.8583:0.0	.	186	P35414	APJ_HUMAN	C	186;67;105	ENSP00000257254:S186C	ENSP00000257254:S186C	S	-	2	0	APLNR	56760498	0.980000	0.34600	0.952000	0.39060	0.904000	0.53231	2.037000	0.41174	2.448000	0.82819	0.555000	0.69702	TCC		PASS	0.617	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161		7	77	7	77	---	---	---	---
RTN4RL2	349667	broad.mit.edu	37	11	57235245	57235245	+	Silent	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr11:57235245C>T	ENST00000533205.1	+	2	204	c.195C>T	c.(193-195)ctC>ctT	p.L65L	RTN4RL2_ENST00000335099.3_Silent_p.L65L|RTN4RL2_ENST00000395120.2_Silent_p.L65L					reticulon 4 receptor-like 2									p.L65L(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTCAGCGACTCTTCCTGCAGA	0.617																																						uc010rjt.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(193-195)CTC>CTT		reticulon 4 receptor-like 2 precursor							180.0	157.0	165.0					11																	57235245		2201	4296	6497	SO:0001819	synonymous_variant	349667				axon regeneration	anchored to plasma membrane	receptor activity	g.chr11:57235245C>T	BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000533205.1:c.195C>T	11.37:g.57235245C>T							p.L65L	NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN			2	195	+			65			LRR 1.			Silent	SNP	ENST00000533205.1	37	c.195C>T																																																																																					PASS	0.617	RTN4RL2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000392538.1	NM_178570		9	227	9	227	---	---	---	---
OR5B3	441608	broad.mit.edu	37	11	58170406	58170406	+	Silent	SNP	C	C	A	rs141530938		TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr11:58170406C>A	ENST00000309403.2	-	1	476	c.477G>T	c.(475-477)ggG>ggT	p.G159G		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G159G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TAAATGTGTCCCCAGTGTGGA	0.453																																						uc010rkf.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(475-477)GGG>GGT		olfactory receptor, family 5, subfamily B,		C		1,4401	2.1+/-5.4	0,1,2200	113.0	104.0	107.0		477	-3.2	0.0	11	dbSNP_134	107	0,8590		0,0,4295	no	coding-synonymous	OR5B3	NM_001005469.1		0,1,6495	AA,AC,CC		0.0,0.0227,0.0077		159/315	58170406	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170406C>A	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.477G>T	11.37:g.58170406C>A							p.G159G	NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN			1	477	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	159			Extracellular (Potential).		Q6IEV6	Silent	SNP	ENST00000309403.2	37	c.477G>T	CCDS31549.1																																																																																				PASS	0.453	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		18	143	18	143	---	---	---	---
OR10V1	390201	broad.mit.edu	37	11	59481095	59481095	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr11:59481095G>T	ENST00000307552.2	-	1	242	c.224C>A	c.(223-225)tCt>tAt	p.S75Y	STX3_ENST00000300150.7_5'UTR	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S75Y(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						GGTGATGGAAGATGTATAGAA	0.443																																						uc001nof.1																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)TCT>TAT		olfactory receptor, family 10, subfamily V,							64.0	67.0	66.0					11																	59481095		2201	4295	6496	SO:0001583	missense	390201				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59481095G>T	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"""GPCR / Class A : Olfactory receptors"""	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.224C>A	11.37:g.59481095G>T	ENSP00000302199:p.Ser75Tyr						p.S75Y	NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN			1	224	-			75			Helical; Name=2; (Potential).		Q6IFD9|Q96R50	Missense_Mutation	SNP	ENST00000307552.2	37	c.224C>A	CCDS31565.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429285	0.43122	.	.	ENSG00000172289	ENST00000307552	T	0.00840	5.63	4.36	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	0.279696	0.25795	N	0.028259	T	0.07818	0.0196	H	0.95470	3.675	0.22378	N	0.999152	D	0.67145	0.996	P	0.60609	0.877	T	0.06320	-1.0833	10	0.66056	D	0.02	.	14.9702	0.71229	0.0:0.0:1.0:0.0	.	75	Q8NGI7	O10V1_HUMAN	Y	75	ENSP00000302199:S75Y	ENSP00000302199:S75Y	S	-	2	0	OR10V1	59237671	0.561000	0.26578	0.990000	0.47175	0.835000	0.47333	3.690000	0.54713	2.453000	0.82957	0.543000	0.68304	TCT		PASS	0.443	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324		13	53	13	53	---	---	---	---
LRRC32	2615	broad.mit.edu	37	11	76371859	76371859	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr11:76371859C>A	ENST00000407242.2	-	3	1020	c.778G>T	c.(778-780)Gac>Tac	p.D260Y	LRRC32_ENST00000260061.5_Missense_Mutation_p.D260Y|LRRC32_ENST00000404995.1_Missense_Mutation_p.D260Y|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	260					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)		p.D260Y(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GCGGCCAGGTCGGGGAAATGG	0.627																																						uc001oxq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(778-780)GAC>TAC		leucine rich repeat containing 32 precursor							58.0	59.0	59.0					11																	76371859		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76371859C>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.778G>T	11.37:g.76371859C>A	ENSP00000384126:p.Asp260Tyr					LRRC32_uc001oxr.3_Missense_Mutation_p.D260Y|LRRC32_uc010rsf.1_Missense_Mutation_p.D260Y	p.D260Y	NM_005512	NP_005503	Q14392	LRC32_HUMAN			3	1021	-			260			LRR 9.|Extracellular (Potential).		Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.778G>T	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.997032	0.35226	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.80393	-1.37;-1.37;-1.37	4.42	4.42	0.53409	.	0.331465	0.29668	N	0.011511	T	0.81039	0.4740	L	0.46157	1.445	0.38087	D	0.936849	D	0.61080	0.989	P	0.52267	0.694	D	0.84440	0.0582	10	0.62326	D	0.03	.	13.0291	0.58833	0.0:0.8382:0.1618:0.0	.	260	Q14392	LRC32_HUMAN	Y	260	ENSP00000260061:D260Y;ENSP00000384126:D260Y;ENSP00000385766:D260Y	ENSP00000260061:D260Y	D	-	1	0	LRRC32	76049507	0.363000	0.24989	0.966000	0.40874	0.388000	0.30384	2.330000	0.43885	2.301000	0.77427	0.455000	0.32223	GAC		PASS	0.627	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		17	122	17	122	---	---	---	---
APOA4	337	broad.mit.edu	37	11	116692448	116692448	+	Missense_Mutation	SNP	A	A	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr11:116692448A>T	ENST00000357780.3	-	3	440	c.326T>A	c.(325-327)cTg>cAg	p.L109Q		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	109	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)	p.L109Q(1)		cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		ccgggccctcagctcctccag	0.627																																						uc001pps.1																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)CTG>CAG		apolipoprotein A-IV precursor							34.0	32.0	33.0					11																	116692448		2199	4294	6493	SO:0001583	missense	337							g.chr11:116692448A>T		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.326T>A	11.37:g.116692448A>T	ENSP00000350425:p.Leu109Gln						p.L109Q	NM_000482	NP_000473				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	430	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	c.326T>A	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052305	0.55218	.	.	ENSG00000110244	ENST00000357780	T	0.79352	-1.26	4.49	4.49	0.54785	Apolipoprotein/apolipophorin (1);	0.481828	0.18802	N	0.130769	D	0.83830	0.5339	M	0.90369	3.11	0.48901	D	0.999729	P	0.44659	0.84	P	0.44990	0.466	D	0.87253	0.2274	10	0.66056	D	0.02	-2.626	13.5939	0.61978	1.0:0.0:0.0:0.0	.	109	P06727	APOA4_HUMAN	Q	109	ENSP00000350425:L109Q	ENSP00000350425:L109Q	L	-	2	0	APOA4	116197658	1.000000	0.71417	0.980000	0.43619	0.857000	0.48899	8.152000	0.89638	1.893000	0.54813	0.379000	0.24179	CTG		PASS	0.627	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		10	43	10	43	---	---	---	---
OR6X1	390260	broad.mit.edu	37	11	123624487	123624487	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr11:123624487G>T	ENST00000327930.2	-	1	766	c.740C>A	c.(739-741)tCc>tAc	p.S247Y		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S247Y(1)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GTAGAGCAGGGAGACAACTGT	0.468																																						uc010rzy.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(739-741)TCC>TAC		olfactory receptor, family 6, subfamily X,							101.0	80.0	87.0					11																	123624487		2202	4299	6501	SO:0001583	missense	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123624487G>T	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.740C>A	11.37:g.123624487G>T	ENSP00000333724:p.Ser247Tyr						p.S247Y	NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	740	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	247			Helical; Name=6; (Potential).		B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	c.740C>A	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758978	0.49468	.	.	ENSG00000221931	ENST00000327930	T	0.38560	1.13	4.2	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.47377	0.1442	M	0.82923	2.615	0.26246	N	0.978793	P	0.50369	0.934	P	0.44597	0.454	T	0.49390	-0.8945	9	0.87932	D	0	-15.1684	6.4005	0.21636	0.218:0.0:0.782:0.0	.	247	Q8NH79	OR6X1_HUMAN	Y	247	ENSP00000333724:S247Y	ENSP00000333724:S247Y	S	-	2	0	OR6X1	123129697	0.000000	0.05858	0.902000	0.35471	0.983000	0.72400	0.391000	0.20784	1.000000	0.39049	0.650000	0.86243	TCC		PASS	0.468	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		29	107	29	107	---	---	---	---
ROBO4	54538	broad.mit.edu	37	11	124765025	124765025	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr11:124765025C>A	ENST00000306534.3	-	7	1586	c.1101G>T	c.(1099-1101)tgG>tgT	p.W367C	ROBO4_ENST00000526899.1_5'Flank|ROBO4_ENST00000533054.1_Missense_Mutation_p.W222C	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	367	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.W367C(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GTGGTGGGACCCAGCTCACAA	0.562																																						uc001qbg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1099-1101)TGG>TGT		roundabout homolog 4, magic roundabout							164.0	129.0	141.0					11																	124765025		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124765025C>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1101G>T	11.37:g.124765025C>A	ENSP00000304945:p.Trp367Cys					ROBO4_uc010sas.1_Missense_Mutation_p.W222C|ROBO4_uc001qbh.2_Missense_Mutation_p.W257C|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'UTR	p.W367C	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	7	1241	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	367			Fibronectin type-III 2.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.1101G>T	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385519	0.82792	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	D;D	0.86297	-2.1;-2.1	5.35	5.35	0.76521	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.34853	N	0.003631	D	0.95796	0.8632	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97101	0.9797	10	0.87932	D	0	.	15.8196	0.78628	0.0:1.0:0.0:0.0	.	257;367	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	C	367;257;222	ENSP00000304945:W367C;ENSP00000437129:W222C	ENSP00000304945:W367C	W	-	3	0	ROBO4	124270235	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.690000	0.68241	2.506000	0.84524	0.563000	0.77884	TGG		PASS	0.562	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		6	101	6	101	---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	9020640	9020640	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr12:9020640G>T	ENST00000299698.7	+	30	4100	c.3920G>T	c.(3919-3921)tGt>tTt	p.C1307F	A2ML1_ENST00000539547.1_Missense_Mutation_p.C816F	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.C1307F(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GGCCAGGGCTGTGTCTATGTG	0.498																																						uc001quz.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3919-3921)TGT>TTT		alpha-2-macroglobulin-like 1 precursor							73.0	71.0	71.0					12																	9020640		1975	4165	6140	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9020640G>T	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3920G>T	12.37:g.9020640G>T	ENSP00000299698:p.Cys1307Phe					A2ML1_uc001qva.1_Missense_Mutation_p.C887F|A2ML1_uc010sgm.1_Missense_Mutation_p.C807F|A2ML1_uc001qvb.1_RNA	p.C1307F	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			30	4018	+			1151						Missense_Mutation	SNP	ENST00000299698.7	37	c.3920G>T	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306077	0.40795	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.35236	1.32;1.46;2.01	3.63	3.63	0.41609	.	3.667200	0.00924	N	0.002633	T	0.72269	0.3439	M	0.90145	3.09	0.47511	D	0.999446	D	0.89917	1.0	D	0.83275	0.996	T	0.59348	-0.7471	10	0.87932	D	0	.	15.0897	0.72183	0.0:0.0:1.0:0.0	.	1307	A8K2U0	A2ML1_HUMAN	F	1307;1307;857;816	ENSP00000299698:C1307F;ENSP00000443174:C857F;ENSP00000438292:C816F	ENSP00000299698:C1307F	C	+	2	0	A2ML1	8911907	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	8.376000	0.90138	2.318000	0.78349	0.561000	0.74099	TGT		PASS	0.498	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		16	111	16	111	---	---	---	---
PZP	5858	broad.mit.edu	37	12	9313081	9313081	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr12:9313081T>C	ENST00000261336.2	-	24	2906	c.2878A>G	c.(2878-2880)Ata>Gta	p.I960V	PZP_ENST00000381997.2_Missense_Mutation_p.I746V|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	960					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.I746V(1)|p.I960V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GAACCTAATATGTCACCTGGG	0.353																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(2878-2880)ATA>GTA		pregnancy-zone protein precursor							98.0	93.0	94.0					12																	9313081		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9313081T>C	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2878A>G	12.37:g.9313081T>C	ENSP00000261336:p.Ile960Val					PZP_uc009zgl.2_Missense_Mutation_p.I746V|PZP_uc010sgo.1_RNA	p.I960V	NM_002864	NP_002855					24	2907	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.2878A>G	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.586161	0.46110	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.31510	2.24;1.49	4.42	4.42	0.53409	.	0.229926	0.27725	U	0.018105	T	0.34658	0.0905	M	0.72479	2.2	0.21147	N	0.999774	B;P	0.35307	0.131;0.494	B;B	0.41202	0.082;0.35	T	0.37686	-0.9695	10	0.56958	D	0.05	.	5.6325	0.17518	0.0:0.0908:0.1734:0.7358	.	746;960	P20742-2;P20742	.;PZP_HUMAN	V	960;746	ENSP00000261336:I960V;ENSP00000371427:I746V	ENSP00000261336:I960V	I	-	1	0	PZP	9204348	1.000000	0.71417	0.904000	0.35570	0.694000	0.40290	0.874000	0.28065	1.760000	0.52011	0.460000	0.39030	ATA		PASS	0.353	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		21	137	21	137	---	---	---	---
CAPZA3	93661	broad.mit.edu	37	12	18891942	18891942	+	Nonsense_Mutation	SNP	T	T	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr12:18891942T>A	ENST00000317658.3	+	1	898	c.740T>A	c.(739-741)tTa>tAa	p.L247*	PLCZ1_ENST00000266505.7_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000435379.1_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	247					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)		p.L247*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TTACAGGAGTTATCCAATGAA	0.433																																						uc001rdy.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(739-741)TTA>TAA		capping protein alpha 3							50.0	53.0	52.0					12																	18891942		2203	4300	6503	SO:0001587	stop_gained	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891942T>A	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.740T>A	12.37:g.18891942T>A	ENSP00000326238:p.Leu247*					PLCZ1_uc001rdv.3_5'Flank|PLCZ1_uc001rdw.3_5'Flank|PLCZ1_uc010sid.1_5'Flank	p.L247*	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN			1	898	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	247					Q969J0	Nonsense_Mutation	SNP	ENST00000317658.3	37	c.740T>A	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.245077	0.79912	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.63	4.63	0.57726	.	0.147457	0.42053	D	0.000767	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-10.6116	11.5331	0.50622	0.0:0.0:0.0:1.0	.	.	.	.	X	247	.	ENSP00000326238:L247X	L	+	2	0	CAPZA3	18783209	1.000000	0.71417	0.958000	0.39756	0.638000	0.38207	3.187000	0.50950	1.955000	0.56771	0.379000	0.24179	TTA		PASS	0.433	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		17	84	17	84	---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21028260	21028261	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr12:21028260_21028261CA>AT	ENST00000381545.3	+	9	1038_1039	c.819_820CA>AT	c.(817-822)tcCAta>tcATta	p.I274L	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.I274L|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.I274L|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.I274L	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	274					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.I274L(2)|p.S273S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTATTTCTTCCATACCATTTTT	0.361																																						uc001rek.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	large_intestine(2)|ovary(1)|skin(1)	4						c.(817-819)TCC>TCA|c.(820-822)ATA>TTA		solute carrier organic anion transporter family,																																				SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028260C>A|g.chr12:21028261A>T		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	Exception_encountered	12.37:g.21028260_21028261delinsAT	ENSP00000370956:p.Ile274Leu					SLCO1B3_uc001rel.2_Silent_p.S273S|SLCO1B3_uc010sil.1_Silent_p.S273S|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Silent_p.S98S|SLCO1B3_uc001rel.2_Missense_Mutation_p.I274L|SLCO1B3_uc010sil.1_Missense_Mutation_p.I274L|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.I99L	p.S273S|p.I274L	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			8	945|946	+	Esophageal squamous(101;0.149)		273|274			Helical; Name=6; (Potential).		E7EMT8|Q5JAR4	Silent|Missense_Mutation	SNP	ENST00000381545.3	37	c.819C>A|c.820A>T	CCDS8684.1																																																																																				PASS	0.361	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		28|27	157|156	27	156	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49420213	49420213	+	Missense_Mutation	SNP	C	C	A	rs267607237		TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr12:49420213C>A	ENST00000301067.7	-	48	15535	c.15536G>T	c.(15535-15537)cGt>cTt	p.R5179L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5179	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.		R -> H (in KABUK1). {ECO:0000269|PubMed:20711175}.		chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R4909L(1)|p.R5179L(1)									GCCCCCCACACGGAACATGTG	0.592																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(15535-15537)CGT>CTT		myeloid/lymphoid or mixed-lineage leukemia 2							40.0	42.0	41.0					12																	49420213		2121	4224	6345	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49420213C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15536G>T	12.37:g.49420213C>A	ENSP00000301067:p.Arg5179Leu	HNSCC(34;0.089)					p.R5179L	NM_003482	NP_003473	O14686	MLL2_HUMAN			48	15536	-			5179		R -> H (in KABS).	FYR N-terminal.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15536G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408124	0.42715	.	.	ENSG00000167548	ENST00000301067	D	0.82081	-1.57	5.12	4.23	0.50019	.	0.000000	0.35349	N	0.003273	D	0.89808	0.6822	M	0.82823	2.61	0.58432	D	0.999998	D	0.76494	0.999	P	0.61800	0.894	D	0.91025	0.4860	10	0.87932	D	0	.	12.7397	0.57243	0.0:0.9182:0.0:0.0818	.	5179	O14686	MLL2_HUMAN	L	5179	ENSP00000301067:R5179L	ENSP00000301067:R5179L	R	-	2	0	MLL2	47706480	1.000000	0.71417	0.860000	0.33809	0.990000	0.78478	7.818000	0.86416	1.295000	0.44724	0.655000	0.94253	CGT		PASS	0.592	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			8	54	8	54	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49441830	49441830	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr12:49441830C>A	ENST00000301067.7	-	14	4153	c.4154G>T	c.(4153-4155)aGc>aTc	p.S1385I		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1385					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S1385I(1)|p.S1112I(1)									CCGGCCAAAGCTGCCACATAC	0.547																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(4153-4155)AGC>ATC		myeloid/lymphoid or mixed-lineage leukemia 2							63.0	70.0	68.0					12																	49441830		2050	4184	6234	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49441830C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4154G>T	12.37:g.49441830C>A	ENSP00000301067:p.Ser1385Ile	HNSCC(34;0.089)					p.S1385I	NM_003482	NP_003473	O14686	MLL2_HUMAN			14	4154	-			1385			PHD-type 3.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.4154G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256498	0.59321	.	.	ENSG00000167548	ENST00000301067	D	0.85339	-1.97	5.83	5.83	0.93111	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.43919	D	0.000516	D	0.92463	0.7607	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92676	0.6154	10	0.87932	D	0	.	18.9089	0.92474	0.0:1.0:0.0:0.0	.	1385	O14686	MLL2_HUMAN	I	1385	ENSP00000301067:S1385I	ENSP00000301067:S1385I	S	-	2	0	MLL2	47728097	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.763000	0.94921	0.563000	0.77884	AGC		PASS	0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			28	86	28	86	---	---	---	---
OR10A7	121364	broad.mit.edu	37	12	55615657	55615657	+	Silent	SNP	T	T	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr12:55615657T>A	ENST00000326258.1	+	1	849	c.849T>A	c.(847-849)ccT>ccA	p.P283P		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P283P(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCATCACACCTATGCTAAACC	0.468																																						uc010spf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(847-849)CCT>CCA		olfactory receptor, family 10, subfamily A,							89.0	78.0	82.0					12																	55615657		2203	4300	6503	SO:0001819	synonymous_variant	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615657T>A	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.849T>A	12.37:g.55615657T>A							p.P283P	NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN			1	849	+			283			Helical; Name=7; (Potential).		Q6IFD5|Q96R19	Silent	SNP	ENST00000326258.1	37	c.849T>A	CCDS31815.1																																																																																				PASS	0.468	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			25	108	25	108	---	---	---	---
METTL7B	196410	broad.mit.edu	37	12	56077825	56077825	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr12:56077825G>T	ENST00000394252.3	+	2	936	c.727G>T	c.(727-729)Gtc>Ttc	p.V243F		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	243							methyltransferase activity (GO:0008168)	p.V193F(1)|p.V243F(1)		kidney(1)|large_intestine(1)|lung(4)	6						GGGAAAGGCTGTCAAATAATC	0.522																																						uc010spr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(727-729)GTC>TTC		methyltransferase like 7B precursor							82.0	71.0	74.0					12																	56077825		2203	4300	6503	SO:0001583	missense	196410						methyltransferase activity	g.chr12:56077825G>T		CCDS8887.2	12q13.2	2012-06-12			ENSG00000170439	ENSG00000170439			28276	protein-coding gene	gene with protein product	"""associated with lipid droplets 1"""					17004324	Standard	NM_152637		Approved	MGC17301, ALDI	uc010spr.2	Q6UX53	OTTHUMG00000152665	ENST00000394252.3:c.727G>T	12.37:g.56077825G>T	ENSP00000377796:p.Val243Phe						p.V243F	NM_152637	NP_689850	Q6UX53	MET7B_HUMAN			2	936	+			243					A8K247|Q8WUI1	Missense_Mutation	SNP	ENST00000394252.3	37	c.727G>T	CCDS8887.2	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477684	0.63849	.	.	ENSG00000170439	ENST00000394252	T	0.54866	0.55	4.15	3.26	0.37387	.	0.065869	0.64402	D	0.000010	T	0.67776	0.2929	M	0.82132	2.575	0.52501	D	0.999953	D	0.76494	0.999	D	0.69654	0.965	T	0.65915	-0.6052	10	0.26408	T	0.33	-29.8319	9.7995	0.40755	0.1022:0.0:0.8978:0.0	.	243	Q6UX53	MET7B_HUMAN	F	243	ENSP00000377796:V243F	ENSP00000377796:V243F	V	+	1	0	METTL7B	54364092	0.992000	0.36948	0.999000	0.59377	0.949000	0.60115	2.042000	0.41222	0.959000	0.37980	0.561000	0.74099	GTC		PASS	0.522	METTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327271.1	NM_152637		52	143	52	143	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56572240	56572240	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr12:56572240G>A	ENST00000267064.4	-	14	1344	c.1258C>T	c.(1258-1260)Cag>Tag	p.Q420*	SMARCC2_ENST00000347471.4_Nonsense_Mutation_p.Q420*|SMARCC2_ENST00000394023.3_Nonsense_Mutation_p.Q420*|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Nonsense_Mutation_p.Q420*	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	420					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.Q420*(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGTGGGTCTGTTCAGTCACA	0.512																																						uc001skb.2																			2	Substitution - Nonsense(2)		lung(2)	lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.(1258-1260)CAG>TAG		SWI/SNF-related matrix-associated							503.0	366.0	413.0					12																	56572240		2203	4300	6503	SO:0001587	stop_gained	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56572240G>A	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1258C>T	12.37:g.56572240G>A	ENSP00000267064:p.Gln420*					SMARCC2_uc001skd.2_Nonsense_Mutation_p.Q420*|SMARCC2_uc001ska.2_Nonsense_Mutation_p.Q420*|SMARCC2_uc001skc.2_Nonsense_Mutation_p.Q420*|SMARCC2_uc010sqf.1_Nonsense_Mutation_p.Q309*	p.Q420*	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		14	1364	-			420					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Nonsense_Mutation	SNP	ENST00000267064.4	37	c.1258C>T	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	G	37	6.558349	0.97663	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.8814	18.4892	0.90841	0.0:0.0:1.0:0.0	.	.	.	.	X	420	.	ENSP00000267064:Q420X	Q	-	1	0	SMARCC2	54858507	1.000000	0.71417	0.984000	0.44739	0.847000	0.48162	9.615000	0.98356	2.740000	0.93945	0.650000	0.86243	CAG		PASS	0.512	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			36	159	36	159	---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81693080	81693080	+	Splice_Site	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr12:81693080C>A	ENST00000549396.1	-	23	2884	c.2724G>T	c.(2722-2724)gaG>gaT	p.E908D	PPFIA2_ENST00000549325.1_Splice_Site_p.E893D|PPFIA2_ENST00000552948.1_Splice_Site_p.E908D|PPFIA2_ENST00000333447.7_Splice_Site_p.E893D|PPFIA2_ENST00000541017.1_Splice_Site_p.E125D|PPFIA2_ENST00000550359.2_Splice_Site_p.E755D|PPFIA2_ENST00000548586.1_Splice_Site_p.E908D|PPFIA2_ENST00000550584.2_Splice_Site_p.E908D|PPFIA2_ENST00000443686.3_Splice_Site_p.E809D|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Splice_Site_p.E475D|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000407050.4_Splice_Site_p.E834D	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	908	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.E908D(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATTCTCTTACCTCTAGCCATG	0.438																																						uc001szo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|pancreas(1)	6						c.(2722-2724)GAG>GAT		PTPRF interacting protein alpha 2							69.0	67.0	67.0					12																	81693080		1845	4108	5953	SO:0001630	splice_region_variant	8499							g.chr12:81693080C>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2724+1G>T	12.37:g.81693080C>A						PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.E908D	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			23	2885	-			834					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.2724G>T	CCDS55857.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.62|18.62|18.62	3.663516|3.663516|3.663516	0.67700|0.67700|0.67700	.|.|.	.|.|.	ENSG00000139220|ENSG00000139220|ENSG00000139220	ENST00000551147|ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000550018	.|T;T;T;T;T;T;T;T;T|.	.|0.51325|.	.|0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71|.	6.06|6.06|6.06	6.06|6.06|6.06	0.98353|0.98353|0.98353	.|Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.64649|0.64649|0.64649	0.2617|0.2617|0.2617	L|L|L	0.60067|0.60067|0.60067	1.865|1.865|1.865	0.58432|0.58432|0.58432	D|D|D	0.999997|0.999997|0.999997	.|P|.	.|0.49635|.	.|0.926|.	.|D|.	.|0.65773|.	.|0.938|.	T|T|T	0.61628|0.61628|0.61628	-0.7024|-0.7024|-0.7024	5|9|5	.|.|.	.|.|.	.|.|.	-20.2901|-20.2901|-20.2901	11.8573|11.8573|11.8573	0.52446|0.52446|0.52446	0.0:0.8658:0.0:0.1342|0.0:0.8658:0.0:0.1342|0.0:0.8658:0.0:0.1342	.|.|.	.|908|.	.|O75334|.	.|LIPA2_HUMAN|.	S|D|I	74|908;893;475;125;834;919;893;908;809;908|42	.|ENSP00000450337:E908D;ENSP00000450298:E893D;ENSP00000438337:E475D;ENSP00000445532:E125D;ENSP00000385093:E834D;ENSP00000327416:E893D;ENSP00000449338:E908D;ENSP00000388373:E809D;ENSP00000447868:E908D|.	.|.|.	A|E|S	-|-|-	1|3|2	0|2|0	PPFIA2|PPFIA2|PPFIA2	80217211|80217211|80217211	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.973000|0.973000|0.973000	0.67179|0.67179|0.67179	4.074000|4.074000|4.074000	0.57577|0.57577|0.57577	2.880000|2.880000|2.880000	0.98712|0.98712|0.98712	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GCT|GAG|AGC		PASS	0.438	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		Missense_Mutation	4	23	4	23	---	---	---	---
SLC5A8	160728	broad.mit.edu	37	12	101603442	101603442	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr12:101603442G>T	ENST00000536262.2	-	1	743	c.185C>A	c.(184-186)aCc>aAc	p.T62N		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.T62N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAAGCTAGCGGTGAGGGACAG	0.607																																					GBM(60;420 1056 13605 22380 47675)	uc001thz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(184-186)ACC>AAC		solute carrier family 5 (iodide transporter),							70.0	60.0	63.0					12																	101603442		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101603442G>T	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.185C>A	12.37:g.101603442G>T	ENSP00000445340:p.Thr62Asn						p.T62N	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			1	575	-			62			Helical; (Potential).			Missense_Mutation	SNP	ENST00000536262.2	37	c.185C>A	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203748	0.95033	.	.	ENSG00000256870	ENST00000536262	D	0.88354	-2.37	5.71	5.71	0.89125	.	0.135645	0.64402	D	0.000002	D	0.95443	0.8520	M	0.87180	2.865	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.95515	0.8589	10	0.72032	D	0.01	.	19.8575	0.96767	0.0:0.0:1.0:0.0	.	62	Q8N695	SC5A8_HUMAN	N	62	ENSP00000445340:T62N	ENSP00000445340:T62N	T	-	2	0	SLC5A8	100127573	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.869000	0.99810	2.698000	0.92095	0.561000	0.74099	ACC		PASS	0.607	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		13	62	13	62	---	---	---	---
RNF10	9921	broad.mit.edu	37	12	121001268	121001268	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr12:121001268C>G	ENST00000325954.4	+	9	1834	c.1373C>G	c.(1372-1374)cCa>cGa	p.P458R	RNF10_ENST00000413266.2_Missense_Mutation_p.P463R	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	458					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P458R(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGTCTGAACCAGAGCCTGAG	0.522																																						uc001typ.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1372-1374)CCA>CGA		ring finger protein 10							77.0	79.0	78.0					12																	121001268		2203	4300	6503	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:121001268C>G	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1373C>G	12.37:g.121001268C>G	ENSP00000322242:p.Pro458Arg					RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.P369R	p.P458R	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN			9	1856	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		458					Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.1373C>G	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	C	8.394	0.840352	0.16891	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000540046	T;T	0.46063	0.88;0.88	5.69	2.3	0.28687	.	1.056640	0.07279	N	0.870365	T	0.30070	0.0753	L	0.29908	0.895	0.09310	N	1	B;B	0.23735	0.047;0.09	B;B	0.18871	0.023;0.021	T	0.22661	-1.0210	10	0.17832	T	0.49	.	9.3483	0.38122	0.0:0.6999:0.0:0.3001	.	463;458	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	R	458;458;463;4	ENSP00000322242:P458R;ENSP00000415682:P463R	ENSP00000322242:P458R	P	+	2	0	RNF10	119485651	0.276000	0.24211	0.789000	0.31954	0.800000	0.45204	0.236000	0.17967	0.695000	0.31675	0.650000	0.86243	CCA		PASS	0.522	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			19	103	19	103	---	---	---	---
LNX2	222484	broad.mit.edu	37	13	28143222	28143222	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr13:28143222C>A	ENST00000316334.3	-	3	728	c.599G>T	c.(598-600)tGg>tTg	p.W200L		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	200					protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)	p.W200L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CTCCTCACTCCATGTGGAAAG	0.527																																						uc001url.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6						c.(598-600)TGG>TTG		ligand of numb-protein X 2							190.0	182.0	184.0					13																	28143222		2203	4300	6503	SO:0001583	missense	222484						zinc ion binding	g.chr13:28143222C>A	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.599G>T	13.37:g.28143222C>A	ENSP00000325929:p.Trp200Leu					LNX2_uc001urm.1_Missense_Mutation_p.W200L	p.W200L	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	3	908	-		Lung SC(185;0.0156)	200					Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	c.599G>T	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.482736	0.26598	.	.	ENSG00000139517	ENST00000316334	T	0.04758	3.56	5.74	5.74	0.90152	.	0.109910	0.64402	D	0.000002	T	0.07638	0.0192	L	0.53729	1.69	0.58432	D	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.36841	-0.9731	10	0.11485	T	0.65	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	200	Q8N448	LNX2_HUMAN	L	200	ENSP00000325929:W200L	ENSP00000325929:W200L	W	-	2	0	LNX2	27041222	1.000000	0.71417	0.302000	0.25058	0.041000	0.13682	7.445000	0.80570	2.873000	0.98535	0.563000	0.77884	TGG		PASS	0.527	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			64	324	64	324	---	---	---	---
SLC10A2	6555	broad.mit.edu	37	13	103718501	103718501	+	Silent	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr13:103718501G>T	ENST00000245312.3	-	1	695	c.99C>A	c.(97-99)gtC>gtA	p.V33V		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	33					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)	p.V33V(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	CCGTACTTAGGACCACACTTA	0.483																																						uc001vpy.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(97-99)GTC>GTA		solute carrier family 10 (sodium/bile acid							189.0	178.0	182.0					13																	103718501		2203	4300	6503	SO:0001819	synonymous_variant	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103718501G>T	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.99C>A	13.37:g.103718501G>T							p.V33V	NM_000452	NP_000443	Q12908	NTCP2_HUMAN			1	696	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		33			Helical; (Potential).		A1L4F4|Q13839	Silent	SNP	ENST00000245312.3	37	c.99C>A	CCDS9506.1																																																																																				PASS	0.483	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			44	179	44	179	---	---	---	---
LIG4	3981	broad.mit.edu	37	13	108862691	108862691	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr13:108862691C>A	ENST00000356922.4	-	2	1198	c.926G>T	c.(925-927)gGt>gTt	p.G309V	LIG4_ENST00000442234.1_Missense_Mutation_p.G309V|LIG4_ENST00000405925.1_Missense_Mutation_p.G309V	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	309					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.G309V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GGTAAGAGAACCTTCAGTAGG	0.363								Non-homologous end-joining																														uc001vqn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(925-927)GGT>GTT	NHEJ	DNA ligase IV							106.0	103.0	104.0					13																	108862691		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108862691C>A	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.926G>T	13.37:g.108862691C>A	ENSP00000349393:p.Gly309Val					LIG4_uc001vqo.2_Missense_Mutation_p.G309V|LIG4_uc010agg.1_Missense_Mutation_p.G242V|LIG4_uc010agf.2_Missense_Mutation_p.G309V|LIG4_uc001vqp.2_Missense_Mutation_p.G309V	p.G309V	NM_002312	NP_002303	P49917	DNLI4_HUMAN			2	1199	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		309					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.926G>T	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316237	0.60524	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.81078	-1.45;-1.45;-1.45	5.53	5.53	0.82687	DNA ligase, ATP-dependent, central (1);	0.000000	0.85682	D	0.000000	D	0.88566	0.6471	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87847	0.2655	10	0.46703	T	0.11	.	18.4439	0.90677	0.0:1.0:0.0:0.0	.	309	P49917	DNLI4_HUMAN	V	309	ENSP00000385955:G309V;ENSP00000402030:G309V;ENSP00000349393:G309V	ENSP00000349393:G309V	G	-	2	0	LIG4	107660692	1.000000	0.71417	0.881000	0.34555	0.687000	0.40016	7.755000	0.85180	2.601000	0.87937	0.643000	0.83706	GGT		PASS	0.363	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		15	184	15	184	---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23884662	23884662	+	Silent	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr14:23884662G>T	ENST00000355349.3	-	36	5373	c.5211C>A	c.(5209-5211)ctC>ctA	p.L1737L	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1737					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.L1737L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTTCAGTCTGGAGCTGGGACA	0.567																																						uc001wjx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(5209-5211)CTC>CTA		myosin, heavy chain 7, cardiac muscle, beta							157.0	125.0	136.0					14																	23884662		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23884662G>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5211C>A	14.37:g.23884662G>T							p.L1737L	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	36	5317	-	all_cancers(95;2.54e-05)		1737			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.5211C>A	CCDS9601.1																																																																																				PASS	0.567	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		27	174	27	174	---	---	---	---
NYNRIN	57523	broad.mit.edu	37	14	24886215	24886215	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr14:24886215G>T	ENST00000382554.3	+	9	5578	c.5260G>T	c.(5260-5262)Gat>Tat	p.D1754Y		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1754	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.D1754Y(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTCCTCCACTGATGCCACACC	0.597																																						uc001wpf.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(5260-5262)GAT>TAT		hypothetical protein LOC57523							31.0	34.0	33.0					14																	24886215		2045	4199	6244	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24886215G>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5260G>T	14.37:g.24886215G>T	ENSP00000371994:p.Asp1754Tyr						p.D1754Y	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			9	5578	+			1754			Integrase catalytic.		Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.5260G>T	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662476	0.29515	.	.	ENSG00000205978	ENST00000382554	T	0.10099	2.91	5.3	3.45	0.39498	.	.	.	.	.	T	0.06096	0.0158	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.33085	-0.9882	9	0.72032	D	0.01	.	8.1815	0.31313	0.0:0.4627:0.4019:0.1354	.	1754	Q9P2P1	NYNRI_HUMAN	Y	1754	ENSP00000371994:D1754Y	ENSP00000371994:D1754Y	D	+	1	0	NYNRIN	23956055	0.000000	0.05858	0.208000	0.23602	0.010000	0.07245	-0.217000	0.09253	0.785000	0.33685	0.655000	0.94253	GAT		PASS	0.597	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			8	64	8	64	---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30066964	30066964	+	Splice_Site	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr14:30066964C>A	ENST00000331968.5	-	16	2396	c.2167G>T	c.(2167-2169)Gtg>Ttg	p.V723L	PRKD1_ENST00000415220.2_Splice_Site_p.V731L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	723	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.V723L(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CAAAGTTTCACCTGTTGATGA	0.433																																						uc001wqh.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(2167-2169)GTG>TTG		protein kinase D1							36.0	40.0	39.0					14																	30066964		2203	4300	6503	SO:0001630	splice_region_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30066964C>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2167-1G>T	14.37:g.30066964C>A							p.V723L	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	16	2348	-	Hepatocellular(127;0.0604)		723			Protein kinase.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.2167G>T	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348020	0.82132	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.82893	-1.66;-1.66	5.72	5.72	0.89469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.77691	0.4168	N	0.26042	0.785	0.80722	D	1	P	0.41265	0.744	B	0.39904	0.313	T	0.77953	-0.2394	10	0.45353	T	0.12	-0.051	20.2504	0.98404	0.0:1.0:0.0:0.0	.	723	Q15139	KPCD1_HUMAN	L	723;731	ENSP00000333568:V723L;ENSP00000390535:V731L	ENSP00000333568:V723L	V	-	1	0	PRKD1	29136715	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.776000	0.85560	2.850000	0.98022	0.650000	0.86243	GTG		PASS	0.433	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	Missense_Mutation	14	80	14	80	---	---	---	---
DCAF5	8816	broad.mit.edu	37	14	69522303	69522303	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr14:69522303C>A	ENST00000341516.5	-	9	1247	c.1100G>T	c.(1099-1101)gGa>gTa	p.G367V	DCAF5_ENST00000556847.1_Missense_Mutation_p.G285V|DCAF5_ENST00000557386.1_Missense_Mutation_p.G366V|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000554215.1_Missense_Mutation_p.G285V	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	367					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)		p.G367V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TCCAGTACATCCTGGCTGCTT	0.478																																						uc001xkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1099-1101)GGA>GTA		WD repeat domain 22							138.0	136.0	137.0					14																	69522303		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69522303C>A	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1100G>T	14.37:g.69522303C>A	ENSP00000341351:p.Gly367Val					DCAF5_uc001xkq.2_Missense_Mutation_p.G366V	p.G367V	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN			9	1319	-			367			WD 6.		B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.1100G>T	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995361	0.35226	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.68903	-0.36;-0.19;-0.19;0.25	5.83	5.83	0.93111	.	0.121089	0.56097	D	0.000034	T	0.54598	0.1868	N	0.24115	0.695	0.80722	D	1	P;P	0.47302	0.893;0.824	B;B	0.41571	0.36;0.276	T	0.60707	-0.7210	10	0.62326	D	0.03	-12.3472	13.7531	0.62919	0.0:0.9213:0.0:0.0787	.	366;367	G3V4J7;Q96JK2	.;DCAF5_HUMAN	V	367;285;285;366	ENSP00000341351:G367V;ENSP00000451551:G285V;ENSP00000452052:G285V;ENSP00000451845:G366V	ENSP00000341351:G367V	G	-	2	0	DCAF5	68592056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.144000	0.50616	2.763000	0.94921	0.561000	0.74099	GGA		PASS	0.478	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		64	310	64	310	---	---	---	---
LRRC74A	145497	broad.mit.edu	37	14	77294668	77294668	+	Silent	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr14:77294668C>T	ENST00000393774.3	+	2	247	c.123C>T	c.(121-123)agC>agT	p.S41S	C14orf166B_ENST00000216453.5_5'Flank|C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Silent_p.S24S	NM_194287.2	NP_919263.2												p.S41S(1)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GACAGAGCAGCGATAAAATGC	0.488																																					Ovarian(165;1056 1958 32571 36789 48728)	uc001xsx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(121-123)AGC>AGT		hypothetical protein LOC145497							57.0	57.0	57.0					14																	77294668		1969	4184	6153	SO:0001819	synonymous_variant	145497							g.chr14:77294668C>T																												ENST00000393774.3:c.123C>T	14.37:g.77294668C>T						C14orf166B_uc010asn.1_5'UTR|C14orf166B_uc001xsw.2_RNA|C14orf166B_uc010aso.1_RNA|C14orf166B_uc010tvg.1_RNA|C14orf166B_uc010tvh.1_5'Flank	p.S41S	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)	2	237	+			41						Silent	SNP	ENST00000393774.3	37	c.123C>T	CCDS9853.2																																																																																				PASS	0.488	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1			3	64	3	64	---	---	---	---
MKRN3	7681	broad.mit.edu	37	15	23810970	23810970	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr15:23810970C>A	ENST00000314520.3	+	1	517	c.41C>A	c.(40-42)gCc>gAc	p.A14D	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Missense_Mutation_p.A14D|MKRN3_ENST00000568252.1_Missense_Mutation_p.A14D	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	14					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A14D(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CACGAGGCAGCCGGGGCCCAG	0.622																																						uc001ywh.3																			1	Substitution - Missense(1)		lung(1)	lung(6)|large_intestine(2)|ovary(2)	10						c.(40-42)GCC>GAC		makorin ring finger protein 3							16.0	22.0	20.0					15																	23810970		2199	4298	6497	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23810970C>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.41C>A	15.37:g.23810970C>A	ENSP00000313881:p.Ala14Asp					MKRN3_uc001ywi.2_Missense_Mutation_p.A14D|MKRN3_uc010ayi.1_Missense_Mutation_p.A14D	p.A14D	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	517	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	14						Missense_Mutation	SNP	ENST00000314520.3	37	c.41C>A	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	c	9.344	1.063838	0.20067	.	.	ENSG00000179455	ENST00000314520	T	0.35048	1.33	3.36	2.44	0.29823	.	.	.	.	.	T	0.25419	0.0618	N	0.08118	0	0.09310	N	1	D;P	0.57571	0.98;0.845	P;B	0.50617	0.646;0.261	T	0.06338	-1.0832	9	0.72032	D	0.01	.	6.5761	0.22567	0.0:0.867:0.0:0.133	.	14;14	Q6NSB6;Q13064	.;MKRN3_HUMAN	D	14	ENSP00000313881:A14D	ENSP00000313881:A14D	A	+	2	0	MKRN3	21362063	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	0.082000	0.14847	0.971000	0.38288	0.563000	0.77884	GCC		PASS	0.622	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		8	29	8	29	---	---	---	---
MAGEL2	54551	broad.mit.edu	37	15	23890424	23890424	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr15:23890424C>A	ENST00000532292.1	-	1	751	c.657G>T	c.(655-657)caG>caT	p.Q219H		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	102					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)	p.Q219H(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CAAAGGGATCCTGCAGAGCAT	0.567																																						uc001ywj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(655-657)CAG>CAT		MAGE-like protein 2							61.0	65.0	63.0					15																	23890424		1995	4174	6169	SO:0001583	missense	54551							g.chr15:23890424C>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.657G>T	15.37:g.23890424C>A	ENSP00000433433:p.Gln219His						p.Q219H	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	752	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.657G>T		.	.	.	.	.	.	.	.	.	.	C	15.69	2.908932	0.52439	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.21	1.17	0.20885	.	.	.	.	.	T	0.23532	0.0569	N	0.24115	0.695	0.23758	N	0.996922	.	.	.	.	.	.	T	0.25187	-1.0139	5	.	.	.	.	6.5228	0.22285	0.3167:0.5938:0.0:0.0895	.	.	.	.	M	251	.	.	R	-	2	0	MAGEL2	21441517	0.196000	0.23350	0.956000	0.39512	0.990000	0.78478	0.455000	0.21843	0.277000	0.22141	0.650000	0.86243	AGG		PASS	0.567	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		36	121	36	121	---	---	---	---
GABRB3	2562	broad.mit.edu	37	15	26793204	26793204	+	Silent	SNP	G	G	T	rs147235962		TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr15:26793204G>T	ENST00000311550.5	-	9	1269	c.1158C>A	c.(1156-1158)ggC>ggA	p.G386G	GABRB3_ENST00000541819.2_Silent_p.G442G|GABRB3_ENST00000299267.4_Silent_p.G386G|GABRB3_ENST00000400188.3_Silent_p.G315G|GABRB3_ENST00000545868.1_Silent_p.G301G	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	386					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.G386G(2)|p.G442G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCCTGGTATCGCCAATGCCGC	0.473																																						uc001zaz.2																			3	Substitution - coding silent(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(1156-1158)GGC>GGA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						133.0	124.0	127.0					15																	26793204		2203	4300	6503	SO:0001819	synonymous_variant	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26793204G>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1158C>A	15.37:g.26793204G>T						GABRB3_uc010uae.1_Silent_p.G301G|GABRB3_uc001zba.2_Silent_p.G386G|GABRB3_uc001zbb.2_Silent_p.G442G	p.G386G	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	9	1300	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	386			Cytoplasmic (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	c.1158C>A	CCDS10019.1																																																																																				PASS	0.473	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			21	226	21	226	---	---	---	---
APBA2	321	broad.mit.edu	37	15	29346771	29346771	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr15:29346771G>T	ENST00000558402.1	+	5	1283	c.684G>T	c.(682-684)caG>caT	p.Q228H	APBA2_ENST00000558259.1_Missense_Mutation_p.Q228H|APBA2_ENST00000561069.1_Missense_Mutation_p.Q228H|APBA2_ENST00000558330.1_Missense_Mutation_p.Q228H|APBA2_ENST00000411764.1_Missense_Mutation_p.Q228H			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	228	STXBP1-binding.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.Q228H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		ACATTGACCAGATCGTGGCAG	0.647																																						uc001zck.2																			1	Substitution - Missense(1)		lung(1)		0						c.(682-684)CAG>CAT		amyloid beta A4 precursor protein-binding,							64.0	47.0	53.0					15																	29346771		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29346771G>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.684G>T	15.37:g.29346771G>T	ENSP00000453293:p.Gln228His					APBA2_uc010azj.2_Missense_Mutation_p.Q228H|APBA2_uc010uat.1_Missense_Mutation_p.Q228H|APBA2_uc001zcl.2_Missense_Mutation_p.Q228H|APBA2_uc010uas.1_Missense_Mutation_p.Q228H	p.Q228H	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	3	891	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	228			STXBP1-binding.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.684G>T	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674865	0.67928	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.49139	0.79	4.96	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.65502	0.2697	M	0.71036	2.16	0.58432	D	0.999996	D;D;D	0.76494	0.999;0.997;0.998	D;D;D	0.85130	0.997;0.991;0.995	T	0.66618	-0.5878	10	0.51188	T	0.08	.	12.1471	0.54029	0.0826:0.0:0.9174:0.0	.	228;228;228	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	H	228	ENSP00000409312:Q228H	ENSP00000219865:Q228H	Q	+	3	2	APBA2	27134063	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	4.800000	0.62524	1.072000	0.40860	0.650000	0.86243	CAG		PASS	0.647	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		4	32	4	32	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34130031	34130031	+	Silent	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr15:34130031G>A	ENST00000389232.4	+	89	11920	c.11850G>A	c.(11848-11850)ggG>ggA	p.G3950G	RYR3_ENST00000415757.3_Silent_p.G3945G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3950					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.G3949G(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATGGAAGGGCAAAAACAGT	0.408																																						uc001zhi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(11848-11850)GGG>GGA		ryanodine receptor 3							109.0	105.0	107.0					15																	34130031		1905	4114	6019	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130031G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11850G>A	15.37:g.34130031G>A						RYR3_uc010bar.2_Silent_p.G3945G	p.G3950G	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	11920	+		all_lung(180;7.18e-09)	3950			EF-hand.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.11850G>A	CCDS45210.1																																																																																				PASS	0.408	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			4	170	4	170	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48782195	48782195	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr15:48782195C>A	ENST00000316623.5	-	25	3390	c.2935G>T	c.(2935-2937)Gcc>Tcc	p.A979S		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	979	TB 5.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.A979S(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGCAGCAGGCGTCCATGCGG	0.607																																						uc001zwx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(2935-2937)GCC>TCC		fibrillin 1 precursor							61.0	57.0	58.0					15																	48782195		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48782195C>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2935G>T	15.37:g.48782195C>A	ENSP00000325527:p.Ala979Ser						p.A979S	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	25	3263	-		all_lung(180;0.00279)	979			TB 5.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.2935G>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087722	0.94100	.	.	ENSG00000166147	ENST00000316623	D	0.92446	-3.04	5.66	5.66	0.87406	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	D	0.000000	D	0.93109	0.7806	L	0.47716	1.5	0.80722	D	1	D	0.57571	0.98	P	0.59012	0.85	D	0.89725	0.3922	10	0.10902	T	0.67	.	19.3266	0.94264	0.0:1.0:0.0:0.0	.	979	P35555	FBN1_HUMAN	S	979	ENSP00000325527:A979S	ENSP00000325527:A979S	A	-	1	0	FBN1	46569487	0.341000	0.24801	0.996000	0.52242	0.967000	0.64934	1.281000	0.33214	2.657000	0.90304	0.655000	0.94253	GCC		PASS	0.607	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			23	100	23	100	---	---	---	---
RASGRF1	5923	broad.mit.edu	37	15	79298689	79298689	+	Silent	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr15:79298689G>T	ENST00000419573.3	-	15	2227	c.1953C>A	c.(1951-1953)gcC>gcA	p.A651A	RASGRF1_ENST00000558480.2_Silent_p.A638A|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_5'Flank	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	651	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A651A(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCTCCACACTGGCGTAGCGGA	0.572																																						uc002beq.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(1)|central_nervous_system(1)	6						c.(1951-1953)GCC>GCA		Ras protein-specific guanine							108.0	91.0	96.0					15																	79298689		2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79298689G>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1953C>A	15.37:g.79298689G>T						RASGRF1_uc002bep.2_Silent_p.A638A|RASGRF1_uc010blm.1_Silent_p.A560A|RASGRF1_uc002ber.3_Silent_p.A638A|RASGRF1_uc010unh.1_Silent_p.A46A	p.A651A	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			15	2328	-			651			N-terminal Ras-GEF.		F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.1953C>A	CCDS10309.1																																																																																				PASS	0.572	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		15	64	15	64	---	---	---	---
AP3B2	8120	broad.mit.edu	37	15	83349700	83349700	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr15:83349700G>T	ENST00000261722.3	-	7	867	c.660C>A	c.(658-660)aaC>aaA	p.N220K	AP3B2_ENST00000535348.1_Missense_Mutation_p.N188K|AP3B2_ENST00000535359.1_Missense_Mutation_p.N220K|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	220					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.N220K(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GTTTCCGGTAGTTTTTGTGAA	0.592																																						uc010uoh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(658-660)AAC>AAA		adaptor-related protein complex 3, beta 2							51.0	58.0	56.0					15																	83349700		2101	4209	6310	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83349700G>T	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.660C>A	15.37:g.83349700G>T	ENSP00000261722:p.Asn220Lys					AP3B2_uc010uoi.1_Missense_Mutation_p.N220K|AP3B2_uc010uoj.1_Missense_Mutation_p.N188K|AP3B2_uc010uog.1_5'Flank	p.N220K	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		7	837	-			220					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.660C>A	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529713	0.85706	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359;ENST00000541693	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	4.98	3.07	0.35406	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.041713	0.85682	D	0.000000	T	0.49389	0.1554	M	0.82923	2.615	0.80722	D	1	D;D;P	0.69078	0.997;0.996;0.941	D;D;P	0.81914	0.995;0.937;0.857	T	0.53229	-0.8468	10	0.72032	D	0.01	-30.6059	9.0522	0.36383	0.2278:0.0:0.7722:0.0	.	188;220;220	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	K	220;188;220;176	ENSP00000261722:N220K;ENSP00000438721:N188K;ENSP00000440984:N220K;ENSP00000441961:N176K	ENSP00000261722:N220K	N	-	3	2	AP3B2	81146754	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.525000	0.73795	1.328000	0.45358	0.563000	0.77884	AAC		PASS	0.592	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			12	47	12	47	---	---	---	---
FSD2	123722	broad.mit.edu	37	15	83428314	83428314	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr15:83428314T>C	ENST00000334574.8	-	13	2217	c.2036A>G	c.(2035-2037)gAt>gGt	p.D679G	RP11-752G15.6_ENST00000561107.1_RNA|RP11-752G15.6_ENST00000558174.1_RNA|FSD2_ENST00000541889.1_Missense_Mutation_p.D634G|RP11-752G15.6_ENST00000559366.1_RNA			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	679	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.							p.D679G(1)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TATTCTTATATCTGGAGTTGT	0.299																																						uc002bjd.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2035-2037)GAT>GGT		fibronectin type III and SPRY domain containing							42.0	40.0	41.0					15																	83428314		1815	4084	5899	SO:0001583	missense	123722							g.chr15:83428314T>C	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.2036A>G	15.37:g.83428314T>C	ENSP00000335651:p.Asp679Gly					FSD2_uc010uol.1_Missense_Mutation_p.D634G|FSD2_uc010uom.1_Missense_Mutation_p.D634G	p.D679G	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN			13	2203	-			679			B30.2/SPRY.		B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	c.2036A>G	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.692864	0.88735	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.68765	-0.35;-0.35	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.156175	0.53938	D	0.000048	T	0.81034	0.4739	M	0.73962	2.25	0.58432	D	0.999997	P;D	0.69078	0.937;0.997	P;D	0.71656	0.808;0.974	T	0.82820	-0.0268	10	0.62326	D	0.03	-41.0085	15.4929	0.75624	0.0:0.0:0.0:1.0	.	634;679	B7ZM02;A1L4K1	.;FSD2_HUMAN	G	679;634	ENSP00000335651:D679G;ENSP00000444078:D634G	ENSP00000335651:D679G	D	-	2	0	FSD2	81225368	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.566000	0.82347	2.308000	0.77769	0.533000	0.62120	GAT		PASS	0.299	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		3	22	3	22	---	---	---	---
RHBDF1	64285	broad.mit.edu	37	16	111619	111619	+	Silent	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr16:111619C>A	ENST00000262316.6	-	9	1426	c.1284G>T	c.(1282-1284)gcG>gcT	p.A428A	RHBDF1_ENST00000454039.2_Silent_p.A428A	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	428					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.A428A(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGCCCACGGGCGCGATGCCAT	0.667																																						uc002cfl.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1282-1284)GCG>GCT		rhomboid family 1							72.0	66.0	68.0					16																	111619		2203	4300	6503	SO:0001819	synonymous_variant	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:111619C>A	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1284G>T	16.37:g.111619C>A						RHBDF1_uc010uty.1_Silent_p.A451A|RHBDF1_uc010utz.1_Silent_p.A428A|RHBDF1_uc010bqo.1_RNA	p.A428A	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN			12	1432	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	428			Helical; (Potential).		Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Silent	SNP	ENST00000262316.6	37	c.1284G>T	CCDS32344.1																																																																																				PASS	0.667	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		17	70	17	70	---	---	---	---
CLCN7	1186	broad.mit.edu	37	16	1501634	1501634	+	Silent	SNP	G	G	A	rs200880732		TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr16:1501634G>A	ENST00000382745.4	-	16	2042	c.1437C>T	c.(1435-1437)caC>caT	p.H479H	LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000262318.8_Silent_p.H455H|CLCN7_ENST00000448525.1_Silent_p.H455H	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	479					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.H479H(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CTGGCGGGTCGTGGAAGAGGC	0.637																																						uc002clv.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1435-1437)CAC>CAT		chloride channel 7 isoform a		G	,	0,4392		0,0,2196	69.0	52.0	58.0		1365,1437	-4.0	1.0	16		58	5,8589	4.3+/-15.6	0,5,4292	no	coding-synonymous,coding-synonymous	CLCN7	NM_001114331.1,NM_001287.4	,	0,5,6488	AA,AG,GG		0.0582,0.0,0.0385	,	455/782,479/806	1501634	5,12981	2196	4297	6493	SO:0001819	synonymous_variant	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1501634G>A	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1437C>T	16.37:g.1501634G>A						CLCN7_uc002clu.2_5'Flank|CLCN7_uc002clw.2_Silent_p.H455H	p.H479H	NM_001287	NP_001278	P51798	CLCN7_HUMAN			16	1547	-		Hepatocellular(780;0.0893)	479					A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	ENST00000382745.4	37	c.1437C>T	CCDS32361.1																																																																																				PASS	0.637	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		7	36	7	36	---	---	---	---
ZNF75A	7627	broad.mit.edu	37	16	3367355	3367355	+	Missense_Mutation	SNP	A	A	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr16:3367355A>T	ENST00000574298.1	+	6	850	c.377A>T	c.(376-378)cAc>cTc	p.H126L	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	126					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.H126L(1)		breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						GGAAAATGGCACCAAGATTTT	0.403																																						uc002cut.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(376-378)CAC>CTC		zinc finger protein 75a							63.0	61.0	61.0					16																	3367355		2197	4300	6497	SO:0001583	missense	7627				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3367355A>T	X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"""Zinc fingers, C2H2-type"", ""-"""	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.377A>T	16.37:g.3367355A>T	ENSP00000459566:p.His126Leu					ZNF75A_uc002cuv.3_RNA	p.H126L	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN			6	903	+			126					Q0VDI8|Q92669	Missense_Mutation	SNP	ENST00000574298.1	37	c.377A>T	CCDS10501.1	.	.	.	.	.	.	.	.	.	.	A	3.558	-0.090184	0.07053	.	.	ENSG00000162086	ENST00000293995	.	.	.	4.57	2.24	0.28232	.	0.635159	0.13986	N	0.349148	T	0.38931	0.1059	L	0.55990	1.75	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.37361	-0.9709	9	0.59425	D	0.04	.	4.586	0.12282	0.7014:0.1962:0.1024:0.0	.	126	Q96N20	ZN75A_HUMAN	L	126	.	ENSP00000293995:H126L	H	+	2	0	ZNF75A	3307356	0.000000	0.05858	0.198000	0.23420	0.626000	0.37791	0.549000	0.23329	0.336000	0.23639	-0.385000	0.06624	CAC		PASS	0.403	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251506.2	NM_153028		8	70	8	70	---	---	---	---
RBFOX1	54715	broad.mit.edu	37	16	7680645	7680645	+	Silent	SNP	C	C	A	rs201549920		TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr16:7680645C>A	ENST00000550418.1	+	11	1705	c.717C>A	c.(715-717)tcC>tcA	p.S239S	RBFOX1_ENST00000552089.1_Silent_p.S256S|RBFOX1_ENST00000311745.5_Silent_p.S259S|RBFOX1_ENST00000547372.1_Silent_p.S282S|RBFOX1_ENST00000547338.1_Silent_p.S239S|RBFOX1_ENST00000422070.4_Silent_p.S282S|RBFOX1_ENST00000436368.2_Silent_p.S259S|RBFOX1_ENST00000535565.2_Silent_p.S196S|RBFOX1_ENST00000340209.4_Silent_p.S244S|RBFOX1_ENST00000355637.4_Silent_p.S259S|RBFOX1_ENST00000553186.1_Intron	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	239					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.S259S(2)|p.S239S(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGGGATCTTCCATGTACAGTG	0.483																																					Ovarian(157;934 2567 15163 39509)	uc002cys.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(715-717)TCC>TCA		ataxin 2-binding protein 1 isoform 4							183.0	146.0	159.0					16																	7680645		2197	4300	6497	SO:0001819	synonymous_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7680645C>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.717C>A	16.37:g.7680645C>A						A2BP1_uc010buf.1_Silent_p.S239S|A2BP1_uc002cyr.1_Silent_p.S238S|A2BP1_uc002cyt.2_Intron|A2BP1_uc010uxz.1_Silent_p.S282S|A2BP1_uc010uya.1_Silent_p.S196S|A2BP1_uc002cyv.1_Silent_p.S239S|A2BP1_uc010uyb.1_Silent_p.S239S|A2BP1_uc002cyw.2_Silent_p.S259S|A2BP1_uc002cyy.2_Silent_p.S259S|A2BP1_uc002cyx.2_Silent_p.S259S|A2BP1_uc010uyc.1_Intron	p.S239S	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)	11	1705	+		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)	239					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	c.717C>A	CCDS55983.1																																																																																				PASS	0.483	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		21	102	21	102	---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20380837	20380837	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr16:20380837T>A	ENST00000302451.4	-	8	1341	c.1093A>T	c.(1093-1095)Agc>Tgc	p.S365C		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	365					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.S365C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTCAGGAAGCTGCGGCCAAAT	0.423																																						uc002dhc.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1093-1095)AGC>TGC		protein disulfide isomerase-like, testis							159.0	161.0	161.0					16																	20380837		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20380837T>A		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1093A>T	16.37:g.20380837T>A	ENSP00000305465:p.Ser365Cys						p.S365C	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			8	1316	-			365					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.1093A>T	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.771321	0.31320	.	.	ENSG00000169340	ENST00000302451	T	0.15139	2.45	4.89	3.76	0.43208	Thioredoxin-like fold (1);	0.346172	0.35805	N	0.002964	T	0.34571	0.0902	M	0.71581	2.175	0.09310	N	0.999999	D	0.71674	0.998	D	0.65323	0.934	T	0.05699	-1.0869	10	0.72032	D	0.01	.	8.9157	0.35581	0.0:0.0915:0.0:0.9085	.	365	Q8N807	PDILT_HUMAN	C	365	ENSP00000305465:S365C	ENSP00000305465:S365C	S	-	1	0	PDILT	20288338	0.675000	0.27558	0.549000	0.28204	0.010000	0.07245	1.823000	0.39062	2.043000	0.60533	0.450000	0.29827	AGC		PASS	0.423	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		63	261	63	261	---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20410427	20410427	+	Missense_Mutation	SNP	G	G	A	rs147993256		TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr16:20410427G>A	ENST00000302451.4	-	2	444	c.196C>T	c.(196-198)Ctt>Ttt	p.L66F		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	66					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.L66F(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TCACGGAAAAGCACCATGAGG	0.542																																						uc002dhc.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(196-198)CTT>TTT		protein disulfide isomerase-like, testis							84.0	77.0	79.0					16																	20410427		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20410427G>A		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.196C>T	16.37:g.20410427G>A	ENSP00000305465:p.Leu66Phe						p.L66F	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			2	419	-			66					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.196C>T	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212843	0.58452	.	.	ENSG00000169340	ENST00000302451	T	0.03386	3.95	4.21	3.22	0.36961	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.437819	0.24779	N	0.035677	T	0.03959	0.0111	L	0.27053	0.805	0.25055	N	0.991103	P	0.40144	0.704	B	0.42462	0.388	T	0.33979	-0.9847	10	0.59425	D	0.04	.	9.1254	0.36812	0.0:0.0:0.7723:0.2277	.	66	Q8N807	PDILT_HUMAN	F	66	ENSP00000305465:L66F	ENSP00000305465:L66F	L	-	1	0	PDILT	20317928	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	1.392000	0.34486	1.291000	0.44653	0.591000	0.81541	CTT		PASS	0.542	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		4	73	4	73	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31422791	31422791	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr16:31422791C>G	ENST00000389202.2	+	14	1709	c.1660C>G	c.(1660-1662)Ctg>Gtg	p.L554V		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	554					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.L554V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCTGTCTACCTGTTTCACGG	0.607																																						uc002ebv.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1660-1662)CTG>GTG		integrin, alpha D precursor							98.0	97.0	97.0					16																	31422791		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422791C>G	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1660C>G	16.37:g.31422791C>G	ENSP00000373854:p.Leu554Val					ITGAD_uc010cap.1_Missense_Mutation_p.L555V	p.L554V	NM_005353	NP_005344	Q13349	ITAD_HUMAN			14	1709	+			554			FG-GAP 6.|Extracellular (Potential).		Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.1660C>G	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	C	9.936	1.216237	0.22373	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.55052	0.54	4.49	-0.711	0.11230	.	.	.	.	.	T	0.25865	0.0630	N	0.05534	-0.03	0.25435	N	0.988143	B;B	0.12630	0.006;0.006	B;B	0.16289	0.015;0.015	T	0.16897	-1.0387	9	0.52906	T	0.07	.	1.5482	0.02569	0.1696:0.4457:0.1559:0.2288	.	570;554	Q59H14;Q13349	.;ITAD_HUMAN	V	570;554	ENSP00000373854:L554V	ENSP00000373854:L554V	L	+	1	2	ITGAD	31330292	0.032000	0.19561	0.992000	0.48379	0.858000	0.48976	-0.346000	0.07760	-0.010000	0.14271	0.407000	0.27541	CTG		PASS	0.607	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		26	152	26	152	---	---	---	---
CX3CL1	6376	broad.mit.edu	37	16	57416881	57416881	+	Silent	SNP	G	G	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr16:57416881G>C	ENST00000006053.6	+	3	1242	c.1131G>C	c.(1129-1131)gcG>gcC	p.A377A	CX3CL1_ENST00000563383.1_Silent_p.A383A|CX3CL1_ENST00000565912.1_Silent_p.A339A	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	377					angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)	p.A377A(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GAGAGATGGCGGAGGGCCTTC	0.587																																						uc002eli.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1129-1131)GCG>GCC		chemokine (C-X3-C motif) ligand 1 precursor							114.0	120.0	118.0					16																	57416881		2198	4300	6498	SO:0001819	synonymous_variant	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57416881G>C	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.1131G>C	16.37:g.57416881G>C							p.A377A	NM_002996	NP_002987	P78423	X3CL1_HUMAN			3	1198	+			377			Cytoplasmic (Potential).		O00672	Silent	SNP	ENST00000006053.6	37	c.1131G>C	CCDS10779.1																																																																																				PASS	0.587	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	NM_002996		28	113	28	113	---	---	---	---
CDH16	1014	broad.mit.edu	37	16	66950228	66950228	+	Silent	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr16:66950228C>A	ENST00000299752.4	-	4	427	c.234G>T	c.(232-234)ctG>ctT	p.L78L	CDH16_ENST00000565796.1_Silent_p.L78L|CDH16_ENST00000570262.1_Intron|CDH16_ENST00000394055.3_Silent_p.L78L|CDH16_ENST00000568632.1_Silent_p.L78L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	78	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.L78L(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGGTCACCAGCAGGAAGCCAG	0.632																																						uc002eql.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(232-234)CTG>CTT		cadherin 16 precursor							74.0	65.0	68.0					16																	66950228		2200	4300	6500	SO:0001819	synonymous_variant	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66950228C>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.234G>T	16.37:g.66950228C>A						CDH16_uc010cdy.2_Silent_p.L78L|CDH16_uc002eqm.2_Silent_p.L78L	p.L78L	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	4	307	-		Ovarian(137;0.0563)	78			Extracellular (Potential).|Cadherin 1.		B4DPA8|H3BPD3|Q6UW93	Silent	SNP	ENST00000299752.4	37	c.234G>T	CCDS10823.1																																																																																				PASS	0.632	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		4	155	4	155	---	---	---	---
SLC9A5	6553	broad.mit.edu	37	16	67289821	67289821	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr16:67289821C>A	ENST00000299798.11	+	5	964	c.899C>A	c.(898-900)tCc>tAc	p.S300Y	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	300					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.S300Y(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GCCTCGCTCTCCGCCATTCTT	0.617																																						uc002esm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(898-900)TCC>TAC		solute carrier family 9 (sodium/hydrogen							30.0	31.0	31.0					16																	67289821		2141	4259	6400	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67289821C>A		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.899C>A	16.37:g.67289821C>A	ENSP00000299798:p.Ser300Tyr					SLC9A5_uc010cee.2_Missense_Mutation_p.S5Y|SLC9A5_uc010vji.1_5'UTR	p.S300Y	NM_004594	NP_004585	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	5	962	+		Ovarian(137;0.0563)	300					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.899C>A	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353265	0.82132	.	.	ENSG00000135740	ENST00000299798	T	0.23147	1.92	5.83	5.83	0.93111	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.66925	0.2839	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77464	-0.2578	10	0.87932	D	0	.	19.1065	0.93299	0.0:1.0:0.0:0.0	.	300	Q14940	SL9A5_HUMAN	Y	300	ENSP00000299798:S300Y	ENSP00000299798:S300Y	S	+	2	0	SLC9A5	65847322	1.000000	0.71417	0.665000	0.29768	0.981000	0.71138	7.818000	0.86416	2.775000	0.95449	0.650000	0.86243	TCC		PASS	0.617	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			4	94	4	94	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70902522	70902522	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr16:70902522C>T	ENST00000393567.2	-	66	11411	c.11261G>A	c.(11260-11262)tGg>tAg	p.W3754*	SNORD112_ENST00000515891.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3754					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.W3705*(1)|p.W3753*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TACGTCCACCCACTTGACTGT	0.517																																						uc002ezr.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|skin(1)	2						c.(11257-11259)TGG>TAG		hydrocephalus inducing isoform a							52.0	51.0	51.0					16																	70902522		1914	4123	6037	SO:0001587	stop_gained	54768							g.chr16:70902522C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11261G>A	16.37:g.70902522C>T	ENSP00000377197:p.Trp3754*					HYDIN_uc010cfy.2_5'Flank	p.W3753*	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			66	11386	-		Ovarian(137;0.0654)	3754					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	ENST00000393567.2	37	c.11258G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	53	21.096973	0.99937	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	.	.	.	5.03	5.03	0.67393	.	0.000000	0.32161	U	0.006499	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.9383	0.89019	0.0:1.0:0.0:0.0	.	.	.	.	X	3754;3753	.	ENSP00000313052:W3753X	W	-	2	0	HYDIN	69460023	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.336000	0.72954	2.327000	0.79052	0.511000	0.50034	TGG		PASS	0.517	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			16	61	16	61	---	---	---	---
CLEC3A	10143	broad.mit.edu	37	16	78062080	78062080	+	Silent	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr16:78062080G>T	ENST00000575655.1	+	2	273	c.192G>T	c.(190-192)ctG>ctT	p.L64L	CLEC3A_ENST00000299642.4_Silent_p.L73L|RP11-281J9.2_ENST00000563114.1_RNA	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	64					skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.L64L(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TTCAAGCCCTGCAGACAGGTA	0.443																																						uc002ffh.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(190-192)CTG>CTT		C-type lectin domain family 3 member A							68.0	65.0	66.0					16																	78062080		2198	4300	6498	SO:0001819	synonymous_variant	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78062080G>T	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"""C-type lectin domain containing"""	2052	protein-coding gene	gene with protein product		613588	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"""	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.192G>T	16.37:g.78062080G>T							p.L64L	NM_005752	NP_005743	O75596	CLC3A_HUMAN			2	273	+			64					B2R8C4|Q3SX91|Q6UXF5	Silent	SNP	ENST00000575655.1	37	c.192G>T																																																																																					PASS	0.443	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		22	49	22	49	---	---	---	---
ABR	29	broad.mit.edu	37	17	916363	916363	+	Missense_Mutation	SNP	G	G	C	rs147397030	byFrequency	TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr17:916363G>C	ENST00000302538.5	-	17	1979	c.1833C>G	c.(1831-1833)gaC>gaG	p.D611E	ABR_ENST00000574437.1_Missense_Mutation_p.D565E|ABR_ENST00000291107.2_Missense_Mutation_p.D574E|ABR_ENST00000572441.1_Missense_Mutation_p.D62E|ABR_ENST00000543210.2_Missense_Mutation_p.D62E|ABR_ENST00000536794.2_Missense_Mutation_p.D393E|ABR_ENST00000544583.2_Missense_Mutation_p.D565E	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	611					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D611E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TCTCAATCACGTCCGTGTGCC	0.622																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1831-1833)GAC>GAG		active breakpoint cluster region-related							241.0	184.0	204.0					17																	916363		2203	4300	6503	SO:0001583	missense	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:916363G>C	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1833C>G	17.37:g.916363G>C	ENSP00000303909:p.Asp611Glu					ABR_uc002fse.2_Missense_Mutation_p.D565E|ABR_uc010vqf.1_Missense_Mutation_p.D62E|ABR_uc010vqg.1_Missense_Mutation_p.D393E|ABR_uc002fsg.2_Missense_Mutation_p.D574E|ABR_uc002fsh.1_Intron|ABR_uc002fsf.2_5'Flank	p.D611E	NM_021962	NP_068781	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	17	1943	-			611					B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	c.1833C>G	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	G	9.894	1.205067	0.22205	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794;ENST00000543210	T;T;T;T;T	0.19532	2.17;2.18;2.14;3.39;3.09	5.77	-8.38	0.00973	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.11367	0.0277	N	0.22421	0.69	0.20821	N	0.999844	B;P;P;B	0.51147	0.411;0.942;0.889;0.411	B;P;B;B	0.46208	0.115;0.507;0.414;0.115	T	0.21759	-1.0236	10	0.02654	T	1	.	16.7793	0.85559	0.8296:0.0:0.1704:0.0	.	393;62;574;611	B7Z683;F5H3S2;Q12979-2;Q12979	.;.;.;ABR_HUMAN	E	611;565;574;393;62	ENSP00000303909:D611E;ENSP00000442048:D565E;ENSP00000291107:D574E;ENSP00000437429:D393E;ENSP00000445198:D62E	ENSP00000291107:D574E	D	-	3	2	ABR	863113	0.049000	0.20398	0.201000	0.23476	0.954000	0.61252	-0.389000	0.07342	-1.786000	0.01269	-1.007000	0.02485	GAC		PASS	0.622	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			7	114	7	114	---	---	---	---
SMG6	23293	broad.mit.edu	37	17	2202345	2202345	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr17:2202345C>T	ENST00000263073.6	-	2	1752	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	SMG6_ENST00000544865.1_Missense_Mutation_p.E537K	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	568					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.E568K(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGCTCTACCTCCTCGGGACTC	0.582																																					Melanoma(59;28 1088 11621 25887 46638 50814)	uc002fub.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|lung(1)|kidney(1)	4						c.(1702-1704)GAG>AAG		Smg-6 homolog, nonsense mediated mRNA decay							206.0	190.0	195.0					17																	2202345		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2202345C>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1702G>A	17.37:g.2202345C>T	ENSP00000263073:p.Glu568Lys					SMG6_uc002fud.1_Missense_Mutation_p.E537K	p.E568K	NM_017575	NP_060045	Q86US8	EST1A_HUMAN			2	1757	-			568			Potential.		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.1702G>A	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	c	17.48	3.399052	0.62177	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.09723	2.96;2.95	5.67	5.67	0.87782	.	0.168398	0.42053	D	0.000779	T	0.11239	0.0274	L	0.27053	0.805	0.80722	D	1	B	0.32968	0.392	B	0.33568	0.166	T	0.13308	-1.0514	10	0.38643	T	0.18	-11.8777	19.8084	0.96538	0.0:1.0:0.0:0.0	.	568	Q86US8	EST1A_HUMAN	K	568;537	ENSP00000263073:E568K;ENSP00000443920:E537K	ENSP00000263073:E568K	E	-	1	0	SMG6	2149095	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.440000	0.80464	2.671000	0.90904	0.645000	0.84053	GAG		PASS	0.582	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			61	506	61	506	---	---	---	---
SHPK	23729	broad.mit.edu	37	17	3524666	3524666	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr17:3524666T>C	ENST00000225519.3	-	5	790	c.688A>G	c.(688-690)Atc>Gtc	p.I230V		NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	230					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)	p.I230V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GGCTCGGCGATGTCTGGGAGC	0.557																																						uc002fvz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(688-690)ATC>GTC		carbohydrate kinase-like							59.0	57.0	57.0					17																	3524666		2203	4300	6503	SO:0001583	missense	23729				carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	g.chr17:3524666T>C	AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"""carbohydrate kinase-like"""	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.688A>G	17.37:g.3524666T>C	ENSP00000225519:p.Ile230Val						p.I230V	NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN		COAD - Colon adenocarcinoma(5;0.0828)	5	791	-			230					B2R640|Q8WUH3	Missense_Mutation	SNP	ENST00000225519.3	37	c.688A>G	CCDS11030.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.861703	0.00552	.	.	ENSG00000197417	ENST00000225519	T	0.39056	1.1	4.97	-1.69	0.08186	Carbohydrate kinase, FGGY, N-terminal (1);	0.443764	0.26345	N	0.024905	T	0.10337	0.0253	N	0.01277	-0.915	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.37753	-0.9692	10	0.02654	T	1	-9.6352	6.697	0.23205	0.0:0.5349:0.1701:0.295	.	230	Q9UHJ6	SHPK_HUMAN	V	230	ENSP00000225519:I230V	ENSP00000225519:I230V	I	-	1	0	SHPK	3471415	0.905000	0.30787	0.093000	0.20910	0.174000	0.22865	0.416000	0.21198	0.002000	0.14630	0.533000	0.62120	ATC		PASS	0.557	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2			6	146	6	146	---	---	---	---
ANKFY1	51479	broad.mit.edu	37	17	4088199	4088199	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr17:4088199G>A	ENST00000341657.4	-	12	1648	c.1613C>T	c.(1612-1614)gCg>gTg	p.A538V	CYB5D2_ENST00000573984.1_Intron|Y_RNA_ENST00000516003.1_RNA|ANKFY1_ENST00000570535.1_Missense_Mutation_p.A580V|ANKFY1_ENST00000573722.1_5'UTR|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A538V	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	538					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)	p.A538V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GACGCTGTCCGCCAAGCTGGT	0.592																																						uc002fxq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1612-1614)GCG>GTG		ankyrin repeat and FYVE domain containing 1							83.0	92.0	89.0					17																	4088199		2177	4268	6445	SO:0001583	missense	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4088199G>A	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1613C>T	17.37:g.4088199G>A	ENSP00000343362:p.Ala538Val					ANKFY1_uc002fxn.2_Missense_Mutation_p.A580V|ANKFY1_uc002fxo.2_Missense_Mutation_p.A538V|ANKFY1_uc002fxp.2_Missense_Mutation_p.A537V|ANKFY1_uc010ckp.2_Missense_Mutation_p.A479V	p.A538V	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN			12	1651	-			538					A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37	c.1613C>T		.	.	.	.	.	.	.	.	.	.	G	8.540	0.873100	0.17322	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	T	0.46819	0.86	5.76	-5.05	0.02955	Ankyrin repeat-containing domain (2);	2.128770	0.01904	N	0.039382	T	0.33644	0.0870	L	0.35487	1.065	0.09310	N	1	B;B;B;B	0.10296	0.003;0.0;0.001;0.003	B;B;B;B	0.08055	0.003;0.001;0.003;0.003	T	0.11470	-1.0586	10	0.29301	T	0.29	4.1006	6.5834	0.22607	0.359:0.2033:0.4377:0.0	.	479;538;538;580	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	V	538;479	ENSP00000343362:A538V	ENSP00000343362:A538V	A	-	2	0	ANKFY1	4034948	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.472000	0.22116	-1.376000	0.02126	-0.136000	0.14681	GCG		PASS	0.592	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		6	112	6	112	---	---	---	---
MYH3	4621	broad.mit.edu	37	17	10535885	10535885	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr17:10535885C>T	ENST00000583535.1	-	34	4951	c.4864G>A	c.(4864-4866)Gac>Aac	p.D1622N	MYH3_ENST00000226209.7_Missense_Mutation_p.D1622N	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1622			D -> A (in DA2B). {ECO:0000269|PubMed:16642020}.		actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.D1622N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCATTCAGGTCCCCCTCCATC	0.587																																						uc002gmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(4864-4866)GAC>AAC		myosin, heavy chain 3, skeletal muscle,							210.0	206.0	207.0					17																	10535885		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10535885C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4864G>A	17.37:g.10535885C>T	ENSP00000464317:p.Asp1622Asn						p.D1622N	NM_002470	NP_002461	P11055	MYH3_HUMAN			33	4941	-			1622		D -> A (in DA2B).	Potential.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.4864G>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	36	5.918694	0.97105	.	.	ENSG00000109063	ENST00000226209	T	0.76186	-1.0	5.77	5.77	0.91146	Myosin tail (1);	.	.	.	.	D	0.90170	0.6928	M	0.92268	3.29	0.53005	D	0.999968	P	0.52316	0.952	D	0.74674	0.984	D	0.91168	0.4966	9	0.72032	D	0.01	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	1622	P11055	MYH3_HUMAN	N	1622	ENSP00000226209:D1622N	ENSP00000226209:D1622N	D	-	1	0	MYH3	10476610	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.807000	0.86032	2.885000	0.99019	0.655000	0.94253	GAC		PASS	0.587	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		117	447	117	447	---	---	---	---
ULK2	9706	broad.mit.edu	37	17	19687111	19687111	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr17:19687111C>A	ENST00000395544.4	-	22	2858	c.2359G>T	c.(2359-2361)Gct>Tct	p.A787S	ULK2_ENST00000361658.2_Missense_Mutation_p.A787S	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	787					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A787S(1)		large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					AGGCTGGGAGCTGCCTCTGCT	0.652																																						uc002gwm.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|stomach(1)	4						c.(2359-2361)GCT>TCT		unc-51-like kinase 2							56.0	65.0	62.0					17																	19687111		2203	4300	6503	SO:0001583	missense	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19687111C>A	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.2359G>T	17.37:g.19687111C>A	ENSP00000378914:p.Ala787Ser					ULK2_uc002gwn.2_Missense_Mutation_p.A787S	p.A787S	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN			22	2868	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		787					A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	c.2359G>T	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678003	0.68042	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.66995	-0.24;-0.24	5.58	5.58	0.84498	.	0.055349	0.64402	D	0.000001	T	0.58192	0.2105	L	0.45137	1.4	0.48452	D	0.999654	P	0.46395	0.877	B	0.38106	0.265	T	0.56786	-0.7921	10	0.18276	T	0.48	-18.4259	18.5624	0.91105	0.0:1.0:0.0:0.0	.	787	Q8IYT8	ULK2_HUMAN	S	787	ENSP00000354877:A787S;ENSP00000378914:A787S	ENSP00000354877:A787S	A	-	1	0	ULK2	19627703	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.372000	0.59530	2.611000	0.88343	0.655000	0.94253	GCT		PASS	0.652	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		38	91	38	91	---	---	---	---
NOS2	4843	broad.mit.edu	37	17	26110067	26110067	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr17:26110067G>A	ENST00000313735.6	-	6	766	c.533C>T	c.(532-534)aCc>aTc	p.T178I		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	178					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.T178I(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CAGTTGGTAGGTTCCTGTTGT	0.547																																						uc002gzu.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(532-534)ACC>ATC		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						290.0	201.0	231.0					17																	26110067		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26110067G>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.533C>T	17.37:g.26110067G>A	ENSP00000327251:p.Thr178Ile					NOS2_uc010crh.1_Missense_Mutation_p.T178I|NOS2_uc010wab.1_Missense_Mutation_p.T178I	p.T178I	NM_000625	NP_000616	P35228	NOS2_HUMAN			6	797	-			178					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.533C>T	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688731	0.88639	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.26373	1.74	5.66	4.68	0.58851	Nitric oxide synthase, oxygenase domain (3);	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	M	0.91090	3.175	0.52099	D	0.999942	P;D	0.56746	0.677;0.977	B;P	0.53912	0.138;0.737	T	0.66236	-0.5974	10	0.87932	D	0	.	14.9514	0.71077	0.0:0.0:0.856:0.144	.	178;178	F8WEM3;P35228	.;NOS2_HUMAN	I	178	ENSP00000327251:T178I	ENSP00000305638:T178I	T	-	2	0	NOS2	23134194	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.690000	0.74567	1.364000	0.46038	0.508000	0.49915	ACC		PASS	0.547	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		36	186	36	186	---	---	---	---
NLK	51701	broad.mit.edu	37	17	26370294	26370294	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr17:26370294C>T	ENST00000407008.3	+	1	1113	c.395C>T	c.(394-396)cCa>cTa	p.P132L	NLK_ENST00000583517.1_3'UTR|NLK_ENST00000582037.1_Missense_Mutation_p.P132L	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	132	Required for interaction with TAB2. {ECO:0000250}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.P132L(1)|p.P120L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TCGCATCATCCACAGCAGCAG	0.547																																						uc010crj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(394-396)CCA>CTA		nemo like kinase							445.0	348.0	381.0					17																	26370294		2203	4300	6503	SO:0001583	missense	51701				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding	g.chr17:26370294C>T	AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"""nemo like kinase"""			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.395C>T	17.37:g.26370294C>T	ENSP00000384625:p.Pro132Leu					NLK_uc010cri.1_RNA	p.P132L	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	1	607	+	all_lung(13;0.000343)|Lung NSC(42;0.00184)		132					B2RCX1|Q2PNI9|Q6P2A3	Missense_Mutation	SNP	ENST00000407008.3	37	c.395C>T	CCDS11224.2	.	.	.	.	.	.	.	.	.	.	C	5.776	0.327601	0.10956	.	.	ENSG00000087095	ENST00000407008	T	0.73047	-0.71	5.44	5.44	0.79542	Protein kinase-like domain (1);	0.174798	0.51477	D	0.000087	T	0.56262	0.1973	N	0.14661	0.345	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.50004	-0.8878	10	0.26408	T	0.33	-15.0785	18.2709	0.90068	0.0:1.0:0.0:0.0	.	132	Q9UBE8	NLK_HUMAN	L	132	ENSP00000384625:P132L	ENSP00000384625:P132L	P	+	2	0	NLK	23394421	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.393000	0.66279	2.545000	0.85829	0.655000	0.94253	CCA		PASS	0.547	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	NM_016231		42	187	42	187	---	---	---	---
POLDIP2	26073	broad.mit.edu	37	17	26680782	26680782	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr17:26680782A>G	ENST00000540200.1	-	5	373	c.374T>C	c.(373-375)gTg>gCg	p.V125A	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	126					mitochondrion morphogenesis (GO:0070584)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)					all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TTTGCCTTTCACCTCCTTGGA	0.537																																						uc002haz.2																			0					0						c.(376-378)GTG>GCG		DNA polymerase delta interacting protein 2							216.0	207.0	210.0					17																	26680782		2003	4169	6172	SO:0001583	missense	26073					mitochondrial nucleoid|nucleus		g.chr17:26680782A>G	AF077203	CCDS74018.1	17q11.2	2008-02-05			ENSG00000004142	ENSG00000004142			23781	protein-coding gene	gene with protein product		611519				12522211	Standard	NM_015584		Approved	PDIP38, DKFZP586F1524	uc002haz.3	Q9Y2S7	OTTHUMG00000132065	ENST00000540200.1:c.374T>C	17.37:g.26680782A>G	ENSP00000475924:p.Val125Ala					POLDIP2_uc010wag.1_RNA	p.V126A	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	7	509	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)		126					B2R846|Q96JE4	Missense_Mutation	SNP	ENST00000540200.1	37	c.377T>C																																																																																					PASS	0.537	POLDIP2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015584		13	391	13	391	---	---	---	---
CCL4	6351	broad.mit.edu	37	17	34431319	34431319	+	Silent	SNP	C	C	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr17:34431319C>G	ENST00000250151.4	+	1	337	c.21C>G	c.(19-21)gtC>gtG	p.V7V	CCL4_ENST00000394495.1_Silent_p.V7V	NM_002984.2	NP_002975.1	P13236	CCL4_HUMAN	chemokine (C-C motif) ligand 4	7					cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|establishment or maintenance of cell polarity (GO:0007163)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of natural killer cell chemotaxis (GO:2000503)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemokine activity (GO:0008009)|cytokine activity (GO:0005125)|identical protein binding (GO:0042802)	p.V7V(1)		endometrium(1)|large_intestine(1)|lung(2)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCGTGACTGTCCTGTCTCTCC	0.517																																					Colon(139;824 1752 21188 21615 24765)	uc002hkw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(19-21)GTC>GTG		chemokine C-C motif ligand 4 isoform 1							515.0	465.0	482.0					17																	34431319		2203	4300	6503	SO:0001819	synonymous_variant	6351				cell adhesion|cell-cell signaling|cellular component movement|chemotaxis|establishment or maintenance of cell polarity|immune response|inflammatory response|response to virus|viral genome replication	extracellular space	chemokine activity|receptor signaling protein tyrosine kinase activity	g.chr17:34431319C>G	M23502	CCDS11308.1	17q21-q23	2014-05-06	2002-08-22	2002-08-23	ENSG00000129277	ENSG00000275302		"""Chemokine ligands"", ""Endogenous ligands"""	10630	protein-coding gene	gene with protein product		182284	"""small inducible cytokine A4 (homologous to mouse Mip-1b)"""	LAG1, SCYA4		1972563	Standard	NM_002984		Approved	MIP-1-beta, Act-2, AT744.1	uc002hkw.1	P13236	OTTHUMG00000188414	ENST00000250151.4:c.21C>G	17.37:g.34431319C>G						CCL4_uc002hkx.1_RNA	p.V7V	NM_002984	NP_002975	P13236	CCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	100	+		Ovarian(249;0.17)	7					P22617|Q13704|Q3SXL8|Q6FGI8	Silent	SNP	ENST00000250151.4	37	c.21C>G	CCDS11308.1																																																																																				PASS	0.517	CCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256592.2	NM_002984		142	693	142	693	---	---	---	---
FBXO47	494188	broad.mit.edu	37	17	37107844	37107844	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr17:37107844G>C	ENST00000378079.2	-	6	805	c.606C>G	c.(604-606)tgC>tgG	p.C202W		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	202								p.C202W(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						CTGGTTTGCTGCAGACAGCCA	0.333																																						uc002hrc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(604-606)TGC>TGG		F-box protein 47							66.0	63.0	64.0					17																	37107844		2203	4300	6503	SO:0001583	missense	494188							g.chr17:37107844G>C		CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"""F-boxes /  ""other"""""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.606C>G	17.37:g.37107844G>C	ENSP00000367319:p.Cys202Trp						p.C202W	NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN			6	806	-			202					B2RTZ4	Missense_Mutation	SNP	ENST00000378079.2	37	c.606C>G	CCDS32639.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458125	0.26161	.	.	ENSG00000204952	ENST00000378079	T	0.69806	-0.43	5.5	2.39	0.29439	.	0.197091	0.52532	D	0.000078	T	0.57888	0.2084	L	0.47716	1.5	0.50313	D	0.999868	P	0.52463	0.953	B	0.43155	0.41	T	0.53933	-0.8368	10	0.39692	T	0.17	-6.4051	10.4703	0.44633	0.2098:0.0:0.7902:0.0	.	202	Q5MNV8	FBX47_HUMAN	W	202	ENSP00000367319:C202W	ENSP00000367319:C202W	C	-	3	2	FBXO47	34361370	1.000000	0.71417	0.998000	0.56505	0.743000	0.42351	0.816000	0.27267	0.283000	0.22279	0.563000	0.77884	TGC		PASS	0.333	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777		21	125	21	125	---	---	---	---
KCNH4	23415	broad.mit.edu	37	17	40330146	40330146	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr17:40330146C>T	ENST00000264661.3	-	4	889	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	KCNH4_ENST00000607371.1_Missense_Mutation_p.R186Q	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	186					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.R186Q(1)|p.R186L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCCCTGGCCCCGGCGGCCAAA	0.592																																					NSCLC(117;707 1703 2300 21308 31858)	uc002hzb.2																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	large_intestine(1)	1						c.(556-558)CGG>CAG		potassium voltage-gated channel, subfamily H,							75.0	83.0	80.0					17																	40330146		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40330146C>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.557G>A	17.37:g.40330146C>T	ENSP00000264661:p.Arg186Gln						p.R186Q	NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	4	890	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	186			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000264661.3	37	c.557G>A	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	8.616	0.890197	0.17613	.	.	ENSG00000089558	ENST00000264661	D	0.98684	-5.07	4.86	0.628	0.17681	.	0.247468	0.21912	N	0.067300	D	0.93536	0.7937	N	0.12182	0.205	0.09310	N	0.999998	B	0.14805	0.011	B	0.11329	0.006	D	0.85665	0.1291	10	0.12430	T	0.62	.	9.6302	0.39774	0.0:0.6228:0.0:0.3771	.	186	Q9UQ05	KCNH4_HUMAN	Q	186	ENSP00000264661:R186Q	ENSP00000264661:R186Q	R	-	2	0	KCNH4	37583672	0.008000	0.16893	0.922000	0.36590	0.765000	0.43378	0.750000	0.26334	0.271000	0.22005	-0.373000	0.07131	CGG		PASS	0.592	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		33	187	33	187	---	---	---	---
UBTF	7343	broad.mit.edu	37	17	42289030	42289030	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr17:42289030G>A	ENST00000302904.4	-	10	1483	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	UBTF_ENST00000393606.3_Nonsense_Mutation_p.Q294*|UBTF_ENST00000436088.1_Nonsense_Mutation_p.Q331*|UBTF_ENST00000527034.1_Nonsense_Mutation_p.Q294*|UBTF_ENST00000343638.5_Nonsense_Mutation_p.Q294*|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Nonsense_Mutation_p.Q331*|UBTF_ENST00000533177.1_Nonsense_Mutation_p.Q294*|UBTF_ENST00000526094.1_Nonsense_Mutation_p.Q294*			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	331					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Q331*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGCTTCCACTGCTGGCTGCAC	0.587																																						uc002igb.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(991-993)CAG>TAG		upstream binding transcription factor, RNA							95.0	88.0	91.0					17																	42289030		2203	4300	6503	SO:0001587	stop_gained	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42289030G>A	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.991C>T	17.37:g.42289030G>A	ENSP00000302640:p.Gln331*					UBTF_uc002igc.2_Nonsense_Mutation_p.Q294*|UBTF_uc010czs.2_Nonsense_Mutation_p.Q331*|UBTF_uc002igd.2_Nonsense_Mutation_p.Q294*|UBTF_uc010czt.2_Nonsense_Mutation_p.Q331*|UBTF_uc002ige.2_Nonsense_Mutation_p.Q294*	p.Q331*	NM_014233	NP_055048	P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	9	1058	-		Breast(137;0.00765)|Prostate(33;0.0181)	331			HMG box 3.		A8K6R8	Nonsense_Mutation	SNP	ENST00000302904.4	37	c.991C>T	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	g	38	7.117504	0.98074	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	.	.	.	4.4	4.4	0.53042	.	0.066495	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-28.3759	11.9575	0.52988	0.0:0.0:0.8264:0.1736	.	.	.	.	X	294;331;294;294;331;294;294;331	.	ENSP00000302640:Q331X	Q	-	1	0	UBTF	39644556	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.178000	0.65037	2.291000	0.77112	0.491000	0.48974	CAG		PASS	0.587	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		35	169	35	169	---	---	---	---
KIF18B	146909	broad.mit.edu	37	17	43010134	43010134	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr17:43010134G>T	ENST00000593135.1	-	9	1242	c.1145C>A	c.(1144-1146)gCt>gAt	p.A382D	KIF18B_ENST00000590129.1_Missense_Mutation_p.A391D|KIF18B_ENST00000587309.1_Missense_Mutation_p.A382D|KIF18B_ENST00000438933.2_Missense_Mutation_p.A382D|KIF18B_ENST00000339151.4_Missense_Mutation_p.A382D	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	391					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.A382D(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CTTCCTCAGAGCGGCTACCTG	0.642																																						uc010wji.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1144-1146)GCT>GAT		kinesin family member 18B							72.0	82.0	79.0					17																	43010134		1936	4120	6056	SO:0001583	missense	146909							g.chr17:43010134G>T		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.1145C>A	17.37:g.43010134G>T	ENSP00000465992:p.Ala382Asp					KIF18B_uc002iht.2_Missense_Mutation_p.A382D|KIF18B_uc010wjh.1_Missense_Mutation_p.A382D	p.A382D	NM_001080443	NP_001073912					9	1246	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	c.1145C>A	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	G	0.227	-1.024162	0.02061	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.73047	-0.71;-0.71	5.83	3.79	0.43588	.	.	.	.	.	T	0.54515	0.1863	L	0.38531	1.155	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.16722	0.007;0.005;0.016	T	0.39099	-0.9630	9	0.12766	T	0.61	.	4.801	0.13296	0.0749:0.1266:0.5616:0.2369	.	391;391;391	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	D	382	ENSP00000412798:A382D;ENSP00000341466:A382D	ENSP00000341466:A382D	A	-	2	0	KIF18B	40365660	0.221000	0.23642	0.073000	0.20177	0.087000	0.18053	0.722000	0.25925	0.767000	0.33267	0.555000	0.69702	GCT		PASS	0.642	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		26	135	26	135	---	---	---	---
KIF18B	146909	broad.mit.edu	37	17	43013655	43013655	+	Silent	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr17:43013655G>T	ENST00000593135.1	-	2	155	c.58C>A	c.(58-60)Cgg>Agg	p.R20R	KIF18B_ENST00000590129.1_Silent_p.R29R|KIF18B_ENST00000587309.1_Silent_p.R20R|KIF18B_ENST00000438933.2_Silent_p.R20R|KIF18B_ENST00000339151.4_Silent_p.R20R	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	29	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.R20R(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				TCCAGCTCCCGAGGGGTGGGG	0.647																																						uc010wji.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(58-60)CGG>AGG		kinesin family member 18B							14.0	17.0	16.0					17																	43013655		2136	4238	6374	SO:0001819	synonymous_variant	146909							g.chr17:43013655G>T		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.58C>A	17.37:g.43013655G>T						KIF18B_uc002iht.2_Silent_p.R20R|KIF18B_uc010wjh.1_Silent_p.R20R	p.R20R	NM_001080443	NP_001073912					2	159	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Silent	SNP	ENST00000593135.1	37	c.58C>A	CCDS45709.2																																																																																				PASS	0.647	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		4	14	4	14	---	---	---	---
OSBPL7	114881	broad.mit.edu	37	17	45897348	45897348	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr17:45897348C>G	ENST00000007414.3	-	3	381	c.190G>C	c.(190-192)Ggc>Cgc	p.G64R	OSBPL7_ENST00000392507.3_Missense_Mutation_p.G64R	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	64	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.G64R(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						TTGTGCCAGCCCTTCAGAGGC	0.637																																						uc002ilx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)GGC>CGC		oxysterol-binding protein-like protein 7							30.0	28.0	28.0					17																	45897348		2202	4299	6501	SO:0001583	missense	114881				lipid transport		lipid binding	g.chr17:45897348C>G	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.190G>C	17.37:g.45897348C>G	ENSP00000007414:p.Gly64Arg					OSBPL7_uc002ilw.1_5'Flank	p.G64R	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN			3	393	-			64			PH.		D3DTT6|Q6PIV6	Missense_Mutation	SNP	ENST00000007414.3	37	c.190G>C	CCDS11515.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534538	0.45073	.	.	ENSG00000006025	ENST00000007414;ENST00000392507	T;T	0.48201	0.82;0.82	4.96	4.96	0.65561	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.117044	0.64402	D	0.000018	T	0.71459	0.3342	M	0.85859	2.78	0.51482	D	0.999925	D	0.89917	1.0	D	0.77557	0.99	T	0.77219	-0.2668	10	0.87932	D	0	-31.8487	15.1505	0.72692	0.0:1.0:0.0:0.0	.	64	Q9BZF2	OSBL7_HUMAN	R	64	ENSP00000007414:G64R;ENSP00000376295:G64R	ENSP00000007414:G64R	G	-	1	0	OSBPL7	43252347	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.671000	0.68095	2.294000	0.77228	0.561000	0.74099	GGC		PASS	0.637	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		8	41	8	41	---	---	---	---
BZRAP1	9256	broad.mit.edu	37	17	56393786	56393786	+	Splice_Site	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr17:56393786C>T	ENST00000343736.4	-	15	2151	c.1988G>A	c.(1987-1989)aGc>aAc	p.S663N	BZRAP1_ENST00000355701.3_Splice_Site_p.S663N|BZRAP1_ENST00000268893.6_Splice_Site_p.S603N			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	663	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)	p.S663N(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGGACCCACCTATAACGTGC	0.657																																						uc002ivx.3																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|skin(1)	3						c.(1987-1989)AGC>AAC		peripheral benzodiazepine receptor-associated							56.0	50.0	52.0					17																	56393786		2203	4299	6502	SO:0001630	splice_region_variant	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56393786C>T	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.1988+1G>A	17.37:g.56393786C>T						BZRAP1_uc010dcs.2_Missense_Mutation_p.S603N|BZRAP1_uc010wnt.1_Missense_Mutation_p.S663N	p.S663N	NM_004758	NP_004749	O95153	RIMB1_HUMAN			15	2859	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		663			SH3 1.		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.1988G>A	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921391	0.73213	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.29917	1.55;1.55;1.55	5.56	5.56	0.83823	Src homology-3 domain (3);	0.041017	0.85682	D	0.000000	T	0.46814	0.1412	L	0.39020	1.185	0.54753	D	0.999985	P;D;P	0.65815	0.544;0.995;0.924	P;D;D	0.73380	0.63;0.98;0.914	T	0.18398	-1.0338	9	.	.	.	.	18.5255	0.90971	0.0:1.0:0.0:0.0	.	663;603;663	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	N	663;663;603	ENSP00000347929:S663N;ENSP00000345824:S663N;ENSP00000268893:S603N	.	S	-	2	0	BZRAP1	53748785	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	7.280000	0.78610	2.629000	0.89072	0.655000	0.94253	AGC		PASS	0.657	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758	Missense_Mutation	4	168	4	168	---	---	---	---
TBX4	9496	broad.mit.edu	37	17	59557523	59557523	+	Silent	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr17:59557523G>A	ENST00000240335.1	+	7	909	c.864G>A	c.(862-864)ccG>ccA	p.P288P	TBX4_ENST00000393853.4_Silent_p.P288P|TBX4_ENST00000589449.1_3'UTR	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	288					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P288P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CAGCCACACCGGACGTGGGCC	0.637																																						uc002izi.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(862-864)CCG>CCA		T-box 4							79.0	86.0	84.0					17																	59557523		2203	4300	6503	SO:0001819	synonymous_variant	9496				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:59557523G>A	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.864G>A	17.37:g.59557523G>A						TBX4_uc010ddo.2_Silent_p.P288P|TBX4_uc010woy.1_Silent_p.P288P	p.P288P	NM_018488	NP_060958	P57082	TBX4_HUMAN			7	909	+			288					A5PKU7|B2RMT1|B7ZLV3	Silent	SNP	ENST00000240335.1	37	c.864G>A	CCDS11629.1																																																																																				PASS	0.637	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		22	198	22	198	---	---	---	---
UBE2O	63893	broad.mit.edu	37	17	74394577	74394577	+	Silent	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr17:74394577C>A	ENST00000319380.7	-	11	1936	c.1872G>T	c.(1870-1872)ctG>ctT	p.L624L	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	624					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.L624L(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CACTCGGCCTCAGCTTGAACC	0.602											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jrm.3																			2	Substitution - coding silent(2)		lung(2)	breast(2)|skin(2)|lung(1)	5						c.(1870-1872)CTG>CTT		ubiquitin-conjugating enzyme E2O							156.0	140.0	145.0					17																	74394577		2203	4300	6503	SO:0001819	synonymous_variant	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74394577C>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1872G>T	17.37:g.74394577C>A			OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1152	UBE2O_uc002jrn.3_Silent_p.L624L|UBE2O_uc002jrl.3_Silent_p.L227L	p.L624L	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN			11	1937	-			624					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	c.1872G>T	CCDS32742.1																																																																																				PASS	0.602	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		4	185	4	185	---	---	---	---
PGS1	9489	broad.mit.edu	37	17	76388642	76388642	+	Missense_Mutation	SNP	G	G	A	rs374120789		TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr17:76388642G>A	ENST00000262764.6	+	2	255	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	PGS1_ENST00000329897.7_5'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	77					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)	p.V77M(1)		cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TCCAGAAGGCGTGCACCGGTT	0.537																																					Esophageal Squamous(45;182 1126 10685 43198)	uc002jvm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(229-231)GTG>ATG		phosphatidylglycerophosphate synthase 1		G	MET/VAL	1,3873		0,1,1936	83.0	84.0	84.0		229	4.4	0.9	17		84	0,8264		0,0,4132	no	missense	PGS1	NM_024419.3	21	0,1,6068	AA,AG,GG		0.0,0.0258,0.0082	benign	77/557	76388642	1,12137	1937	4132	6069	SO:0001583	missense	9489				phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity	g.chr17:76388642G>A		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.229G>A	17.37:g.76388642G>A	ENSP00000262764:p.Val77Met					PGS1_uc010wtt.1_RNA	p.V77M	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)		2	241	+			77					B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	c.229G>A	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554921	0.45487	2.58E-4	0.0	ENSG00000087157	ENST00000262764	T	0.22539	1.95	5.38	4.4	0.53042	.	0.357660	0.27531	N	0.018945	T	0.08492	0.0211	N	0.08118	0	0.80722	D	1	P	0.42296	0.775	B	0.33521	0.165	T	0.23476	-1.0187	10	0.33940	T	0.23	-26.4227	7.7324	0.28793	0.0738:0.0:0.6325:0.2938	.	77	Q32NB8	PGPS1_HUMAN	M	77	ENSP00000262764:V77M	ENSP00000262764:V77M	V	+	1	0	PGS1	73900237	0.990000	0.36364	0.912000	0.35992	0.849000	0.48306	2.996000	0.49449	1.260000	0.44134	0.591000	0.81541	GTG		PASS	0.537	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		29	117	29	117	---	---	---	---
CSNK1D	1453	broad.mit.edu	37	17	80210985	80210985	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr17:80210985C>A	ENST00000314028.6	-	4	821	c.472G>T	c.(472-474)Gat>Tat	p.D158Y	CSNK1D_ENST00000578904.1_5'UTR|CSNK1D_ENST00000398519.5_Missense_Mutation_p.D158Y|CSNK1D_ENST00000392334.2_Missense_Mutation_p.D158Y	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.D158Y(3)		breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GTGCGTGCATCCCGGTACTTC	0.592																																						uc002kej.2																			3	Substitution - Missense(3)		lung(3)	breast(2)	2						c.(472-474)GAT>TAT		casein kinase 1, delta isoform 1							310.0	226.0	255.0					17																	80210985		2203	4300	6503	SO:0001583	missense	1453				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:80210985C>A		CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.472G>T	17.37:g.80210985C>A	ENSP00000324464:p.Asp158Tyr					SLC16A3_uc002kee.2_Intron|CSNK1D_uc002kef.2_Missense_Mutation_p.D158Y|CSNK1D_uc002kei.2_Missense_Mutation_p.D158Y|CSNK1D_uc010wvj.1_Intron|CSNK1D_uc010dil.2_5'Flank|CSNK1D_uc002keh.2_Missense_Mutation_p.D23Y|CSNK1D_uc010dim.1_5'Flank	p.D158Y	NM_001893	NP_001884	P48730	KC1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)		4	788	-	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		158			Protein kinase.		A2I2P2|Q96KZ6|Q9BTN5	Missense_Mutation	SNP	ENST00000314028.6	37	c.472G>T	CCDS11805.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940912	0.52972	.	.	ENSG00000141551	ENST00000314028;ENST00000392334;ENST00000398519;ENST00000269361	T;T;T	0.22336	2.63;2.63;1.96	5.55	5.55	0.83447	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043294	0.85682	D	0.000000	T	0.64057	0.2564	H	0.97315	3.98	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.78314	0.852;0.968;0.991	T	0.77958	-0.2392	10	0.87932	D	0	.	18.489	0.90839	0.0:1.0:0.0:0.0	.	158;158;101	P48730;P48730-2;B4E0G1	KC1D_HUMAN;.;.	Y	158;158;101;50	ENSP00000324464:D158Y;ENSP00000376146:D158Y;ENSP00000269361:D50Y	ENSP00000269361:D50Y	D	-	1	0	CSNK1D	77804274	1.000000	0.71417	0.989000	0.46669	0.884000	0.51177	7.755000	0.85180	2.620000	0.88729	0.655000	0.94253	GAT		PASS	0.592	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442632.1	NM_139062		64	224	64	224	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5416197	5416198	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr18:5416197_5416198TC>AA	ENST00000341928.2	-	13	2026_2027	c.1686_1687GA>TT	c.(1684-1689)ggGAgg>ggTTgg	p.R563W	EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R563W	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	563	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.R563W(2)|p.G562G(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGGTAAGGCCTCCCTGGGCCAT	0.559																																						uc002kmt.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(5)	5						c.(1687-1689)AGG>TGG|c.(1684-1686)GGG>GGT		erythrocyte membrane protein band 4.1-like 3																																				SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5416197T>A|g.chr18:5416198C>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1686_1687delinsAA	18.37:g.5416197_5416198delinsAA	ENSP00000343158:p.Arg563Trp					EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	p.R563W|p.G562G	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			13	1773|1772	-			563|562			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation|Silent	SNP	ENST00000341928.2	37	c.1687A>T|c.1686G>T	CCDS11838.1																																																																																				PASS	0.559	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		47|48	192|189	47	189	---	---	---	---
SYT4	6860	broad.mit.edu	37	18	40850570	40850570	+	Silent	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr18:40850570G>T	ENST00000255224.3	-	4	1382	c.1014C>A	c.(1012-1014)atC>atA	p.I338I	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.I320I	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	338	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.I338I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCTTCTTGGAGATTCTCTTTT	0.433																																					NSCLC(85;81 1419 2855 22820 35912)	uc002law.2																			2	Substitution - coding silent(2)		lung(2)	skin(5)	5						c.(1012-1014)ATC>ATA		synaptotagmin IV							98.0	100.0	99.0					18																	40850570		2203	4300	6503	SO:0001819	synonymous_variant	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40850570G>T	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.1014C>A	18.37:g.40850570G>T						SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Silent_p.I320I|SYT4_uc010dnh.2_Intron	p.I338I	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN			4	1383	-			338			C2 2.|Cytoplasmic (Potential).		B4DEU3|Q9P2K4	Silent	SNP	ENST00000255224.3	37	c.1014C>A	CCDS11922.1																																																																																				PASS	0.433	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		27	165	27	165	---	---	---	---
ZNF532	55205	broad.mit.edu	37	18	56648807	56648807	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr18:56648807T>A	ENST00000336078.4	+	10	4145	c.3369T>A	c.(3367-3369)gaT>gaA	p.D1123E	ZNF532_ENST00000591808.1_Missense_Mutation_p.D1123E|ZNF532_ENST00000589288.1_Missense_Mutation_p.D1123E|ZNF532_ENST00000591230.1_Missense_Mutation_p.D1123E|ZNF532_ENST00000591083.1_Missense_Mutation_p.D1123E|ZNF532_ENST00000588956.1_3'UTR	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1123					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.D1123E(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AAATGACAGATGCCACCAATG	0.443																																						uc002lho.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(3367-3369)GAT>GAA		zinc finger protein 532							72.0	71.0	71.0					18																	56648807		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56648807T>A	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.3369T>A	18.37:g.56648807T>A	ENSP00000338217:p.Asp1123Glu					ZNF532_uc002lhp.2_Missense_Mutation_p.D1121E|ZNF532_uc010xeg.1_Missense_Mutation_p.D1121E|ZNF532_uc002lhr.2_Missense_Mutation_p.D1121E|ZNF532_uc002lhs.2_Missense_Mutation_p.D1121E|ZNF532_uc010xeh.1_Missense_Mutation_p.D211E	p.D1123E	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN			10	3916	+			1123					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.3369T>A	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.569329	0.00895	.	.	ENSG00000074657	ENST00000336078	T	0.01446	4.88	5.4	-10.1	0.00402	.	0.268555	0.34777	N	0.003690	T	0.00608	0.0020	N	0.04203	-0.255	0.18873	N	0.999984	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36672	-0.9738	10	0.34782	T	0.22	-15.4677	2.0139	0.03493	0.2212:0.2544:0.3415:0.1829	.	1123;1123	B3KXW2;Q9HCE3	.;ZN532_HUMAN	E	1123	ENSP00000338217:D1123E	ENSP00000338217:D1123E	D	+	3	2	ZNF532	54799787	0.001000	0.12720	0.019000	0.16419	0.011000	0.07611	-1.113000	0.03296	-2.342000	0.00624	-1.252000	0.01501	GAT		PASS	0.443	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		30	143	30	143	---	---	---	---
SERPINB8	5271	broad.mit.edu	37	18	61649041	61649041	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr18:61649041T>A	ENST00000397985.2	+	4	649	c.393T>A	c.(391-393)caT>caA	p.H131Q	SERPINB8_ENST00000353706.2_Missense_Mutation_p.H131Q|SERPINB8_ENST00000397988.3_Missense_Mutation_p.H131Q|SERPINB8_ENST00000542677.1_5'UTR	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	131					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.H131Q(1)		breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				GCAGGAAGCATATAAATGACT	0.428																																						uc002ljv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(391-393)CAT>CAA		serine (or cysteine) proteinase inhibitor, clade							196.0	182.0	187.0					18																	61649041		2203	4300	6503	SO:0001583	missense	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61649041T>A	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.393T>A	18.37:g.61649041T>A	ENSP00000381072:p.His131Gln					SERPINB8_uc002ljs.1_Missense_Mutation_p.H131Q|SERPINB8_uc002ljt.2_Missense_Mutation_p.H131Q|SERPINB8_uc002lju.2_Missense_Mutation_p.H131Q|SERPINB8_uc010xex.1_5'UTR	p.H131Q	NM_198833	NP_942130	P50452	SPB8_HUMAN			4	562	+		Esophageal squamous(42;0.129)	131					B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	c.393T>A	CCDS11991.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.62|15.62	2.886807|2.886807	0.51908|0.51908	.|.	.|.	ENSG00000166401|ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000397988;ENST00000441827|ENST00000295211	D;D;D;D|.	0.82984|.	-1.67;-1.67;-1.67;-1.67|.	5.21|5.21	3.16|3.16	0.36331|0.36331	Serpin domain (3);|.	0.355651|.	0.35320|.	N|.	0.003286|.	T|T	0.37571|0.37571	0.1008|0.1008	N|N	0.25957|0.25957	0.775|0.775	0.80722|0.80722	D|D	1|1	B;B|.	0.31153|.	0.31;0.31|.	P;P|.	0.46452|.	0.517;0.517|.	T|T	0.15578|0.15578	-1.0432|-1.0432	9|5	.|.	.|.	.|.	.|.	3.0753|3.0753	0.06245|0.06245	0.3183:0.4485:0.0:0.2331|0.3183:0.4485:0.0:0.2331	.|.	131;131|.	P50452;Q8N178|.	SPB8_HUMAN;.|.	Q|K	131|73	ENSP00000381072:H131Q;ENSP00000331368:H131Q;ENSP00000381075:H131Q;ENSP00000393456:H131Q|.	.|.	H|I	+|+	3|2	2|0	SERPINB8|SERPINB8	59800021|59800021	0.443000|0.443000	0.25641|0.25641	0.934000|0.934000	0.37439|0.37439	0.841000|0.841000	0.47740|0.47740	-0.021000|-0.021000	0.12504|0.12504	1.317000|1.317000	0.45149|0.45149	0.383000|0.383000	0.25322|0.25322	CAT|ATA		PASS	0.428	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		55	252	55	252	---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67672496	67672496	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr18:67672496G>A	ENST00000255674.6	-	48	6819	c.6533C>T	c.(6532-6534)aCa>aTa	p.T2178I	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2178					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.T2178I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TTTCAAAGCTGTTTTTGCCTA	0.343																																						uc002lkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(6532-6534)ACA>ATA		rotatin							160.0	140.0	147.0					18																	67672496		1833	4085	5918	SO:0001583	missense	25914						binding	g.chr18:67672496G>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.6533C>T	18.37:g.67672496G>A	ENSP00000255674:p.Thr2178Ile					RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.T1266I|RTTN_uc002lkn.2_Missense_Mutation_p.T168I|RTTN_uc010dqp.2_Missense_Mutation_p.T430I	p.T2178I	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			48	6601	-		Esophageal squamous(42;0.129)	2178					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.6533C>T	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	G	8.280	0.815331	0.16607	.	.	ENSG00000176225	ENST00000255674	T	0.49720	0.77	5.48	4.6	0.57074	Armadillo-like helical (1);Armadillo-type fold (1);	0.714590	0.12838	N	0.435035	T	0.32194	0.0821	N	0.22421	0.69	0.80722	D	1	B	0.20988	0.05	B	0.19148	0.024	T	0.06127	-1.0844	10	0.19147	T	0.46	.	9.5286	0.39180	0.2038:0.0:0.7962:0.0	.	2178	Q86VV8	RTTN_HUMAN	I	2178	ENSP00000255674:T2178I	ENSP00000255674:T2178I	T	-	2	0	RTTN	65823476	1.000000	0.71417	0.989000	0.46669	0.640000	0.38277	2.956000	0.49129	1.291000	0.44653	0.655000	0.94253	ACA		PASS	0.343	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		6	125	6	125	---	---	---	---
TSHZ1	10194	broad.mit.edu	37	18	72998468	72998468	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr18:72998468G>T	ENST00000580243.1	+	2	1454	c.1106G>T	c.(1105-1107)gGa>gTa	p.G369V	TSHZ1_ENST00000322038.5_Missense_Mutation_p.G324V			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	369					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G324V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GAGCCAGCAGGAATGGCCGCA	0.627																																						uc002lly.2																			1	Substitution - Missense(1)		lung(1)		0						c.(970-972)GGA>GTA		teashirt family zinc finger 1							70.0	77.0	75.0					18																	72998468		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72998468G>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1106G>T	18.37:g.72998468G>T	ENSP00000464391:p.Gly369Val						p.G324V	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	1534	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	369					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.971G>T		.	.	.	.	.	.	.	.	.	.	G	0.143	-1.100427	0.01843	.	.	ENSG00000179981	ENST00000322038	T	0.13089	2.62	5.27	5.27	0.74061	.	0.189249	0.45361	D	0.000366	T	0.20861	0.0502	M	0.69823	2.125	0.27849	N	0.940819	B	0.11235	0.004	B	0.09377	0.004	T	0.50508	-0.8820	10	0.51188	T	0.08	-15.9098	14.6064	0.68481	0.0:0.0:0.8537:0.1463	.	369	Q6ZSZ6	TSH1_HUMAN	V	324	ENSP00000323584:G324V	ENSP00000323584:G324V	G	+	2	0	TSHZ1	71127456	0.908000	0.30866	0.000000	0.03702	0.002000	0.02628	1.377000	0.34317	-2.948000	0.00294	-1.235000	0.01560	GGA		PASS	0.627	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		29	87	29	87	---	---	---	---
TJP3	27134	broad.mit.edu	37	19	3728466	3728466	+	Silent	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:3728466C>T	ENST00000541714.2	+	2	498	c.36C>T	c.(34-36)gcC>gcT	p.A12A	TJP3_ENST00000587686.1_Silent_p.A31A|TJP3_ENST00000589378.1_Silent_p.A21A|TJP3_ENST00000262968.9_Silent_p.A31A|TJP3_ENST00000382008.3_Silent_p.A12A|TJP3_ENST00000539908.2_Intron	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	12	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)		p.A31A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCACACGGCCACACTGTCCA	0.617																																						uc010xhv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(91-93)GCC>GCT		tight junction protein 3							50.0	38.0	42.0					19																	3728466		2202	4300	6502	SO:0001819	synonymous_variant	27134					tight junction	protein binding	g.chr19:3728466C>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.36C>T	19.37:g.3728466C>T						TJP3_uc010xhs.1_Silent_p.A12A|TJP3_uc010xht.1_Intron|TJP3_uc010xhu.1_Silent_p.A21A|TJP3_uc010xhw.1_Silent_p.A31A	p.A31A	NM_014428	NP_055243	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	1	93	+			12			PDZ 1.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Silent	SNP	ENST00000541714.2	37	c.93C>T	CCDS32873.2																																																																																				PASS	0.617	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			11	37	11	37	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8206868	8206868	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:8206868C>A	ENST00000600128.1	-	7	1109	c.695G>T	c.(694-696)tGc>tTc	p.C232F	FBN3_ENST00000601739.1_Missense_Mutation_p.C232F|FBN3_ENST00000270509.2_Missense_Mutation_p.C232F			Q75N90	FBN3_HUMAN	fibrillin 3	232	TB 1.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C232F(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCGCGGCGGCAGGGGTGTGG	0.637																																						uc002mjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(694-696)TGC>TTC		fibrillin 3 precursor							29.0	35.0	33.0					19																	8206868		2202	4300	6502	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8206868C>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.695G>T	19.37:g.8206868C>A	ENSP00000470498:p.Cys232Phe						p.C232F	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			6	716	-			232			TB 1.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.695G>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	21.0	4.089118	0.76756	.	.	ENSG00000142449	ENST00000270509	D	0.92699	-3.09	3.95	3.95	0.45737	Matrix fibril-associated (3);	0.000000	0.85682	U	0.000000	D	0.95262	0.8463	M	0.71581	2.175	0.51767	D	0.999939	D	0.69078	0.997	D	0.85130	0.997	D	0.95477	0.8557	10	0.56958	D	0.05	.	15.1368	0.72572	0.0:1.0:0.0:0.0	.	232	Q75N90	FBN3_HUMAN	F	232	ENSP00000270509:C232F	ENSP00000270509:C232F	C	-	2	0	FBN3	8112868	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.373000	0.79623	2.028000	0.59812	0.491000	0.48974	TGC		PASS	0.637	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		11	50	11	50	---	---	---	---
HNRNPM	4670	broad.mit.edu	37	19	8550681	8550681	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:8550681A>G	ENST00000325495.4	+	14	1410	c.1369A>G	c.(1369-1371)Atg>Gtg	p.M457V	HNRNPM_ENST00000348943.3_Missense_Mutation_p.M418V	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	457	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)	p.M457V(1)		endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CATTGAGCGCATGGGCCCGCT	0.687																																						uc010dwe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1369-1371)ATG>GTG		heterogeneous nuclear ribonucleoprotein M							56.0	60.0	59.0					19																	8550681		2203	4298	6501	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8550681A>G	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1369A>G	19.37:g.8550681A>G	ENSP00000325376:p.Met457Val					HNRNPM_uc010xke.1_Missense_Mutation_p.M403V|HNRNPM_uc010dwd.2_Missense_Mutation_p.M418V|HNRNPM_uc002mka.2_Missense_Mutation_p.M322V|HNRNPM_uc002mkb.1_5'Flank	p.M457V	NM_005968	NP_005959	P52272	HNRPM_HUMAN			14	1449	+			457			8.|27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1369A>G	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.970412	0.34754	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.15017	2.46;2.78	5.63	5.63	0.86233	.	0.086120	0.85682	D	0.000000	T	0.23014	0.0556	M	0.68593	2.085	0.39242	D	0.963883	B;B;B;B	0.27791	0.189;0.017;0.152;0.039	B;B;B;B	0.27608	0.081;0.01;0.08;0.015	T	0.04481	-1.0948	10	0.72032	D	0.01	.	14.6733	0.68961	1.0:0.0:0.0:0.0	.	297;457;418;342	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	V	457;418;342;14	ENSP00000325376:M457V;ENSP00000325732:M418V	ENSP00000325376:M457V	M	+	1	0	HNRNPM	8456681	0.996000	0.38824	1.000000	0.80357	0.968000	0.65278	3.503000	0.53340	2.137000	0.66172	0.482000	0.46254	ATG		PASS	0.687	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			27	133	27	133	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9068728	9068728	+	Missense_Mutation	SNP	A	A	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:9068728A>T	ENST00000397910.4	-	3	18921	c.18718T>A	c.(18718-18720)Ttg>Atg	p.L6240M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6242	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L6240M(2)|p.L1873M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTCTTGCAATGTGGAAGTT	0.493																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(18718-18720)TTG>ATG		mucin 16							122.0	120.0	121.0					19																	9068728		2055	4195	6250	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9068728A>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18718T>A	19.37:g.9068728A>T	ENSP00000381008:p.Leu6240Met						p.L6240M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	18922	-			6242			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.18718T>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.290	-0.145078	0.06627	.	.	ENSG00000181143	ENST00000397910	T	0.30448	1.53	1.75	-1.74	0.08056	.	.	.	.	.	T	0.17874	0.0429	L	0.36672	1.1	.	.	.	B	0.31077	0.307	B	0.26202	0.067	T	0.22243	-1.0222	8	0.87932	D	0	.	1.648	0.02766	0.4114:0.0:0.301:0.2876	.	6240	B5ME49	.	M	6240	ENSP00000381008:L6240M	ENSP00000381008:L6240M	L	-	1	2	MUC16	8929728	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.318000	0.02705	-0.509000	0.06532	0.147000	0.16070	TTG		PASS	0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		18	125	18	125	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9070944	9070944	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:9070944G>T	ENST00000397910.4	-	3	16705	c.16502C>A	c.(16501-16503)aCa>aAa	p.T5501K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5503	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T5501K(2)|p.T1134K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCTCTGTTGTTGAGCTGGT	0.473																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(16501-16503)ACA>AAA		mucin 16							133.0	127.0	129.0					19																	9070944		2011	4181	6192	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9070944G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16502C>A	19.37:g.9070944G>T	ENSP00000381008:p.Thr5501Lys						p.T5501K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	16706	-			5503			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.16502C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.184	-0.167313	0.06461	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.93	-3.86	0.04230	.	.	.	.	.	T	0.01905	0.0060	N	0.24115	0.695	.	.	.	B	0.24483	0.104	B	0.16722	0.016	T	0.44636	-0.9315	8	0.87932	D	0	.	3.497	0.07658	0.435:0.2068:0.3582:0.0	.	5501	B5ME49	.	K	5501	ENSP00000381008:T5501K	ENSP00000381008:T5501K	T	-	2	0	MUC16	8931944	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.626000	0.00874	-0.942000	0.03695	-0.692000	0.03713	ACA		PASS	0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	111	13	111	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9071179	9071179	+	Missense_Mutation	SNP	C	C	T	rs138208562	byFrequency	TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:9071179C>T	ENST00000397910.4	-	3	16470	c.16267G>A	c.(16267-16269)Gca>Aca	p.A5423T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5425	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.A5423T(2)|p.A1056T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGGTCACTGCGGTGTTTGTG	0.502													C|||	2	0.000399361	0.0	0.0014	5008	,	,		21843	0.0		0.001	False		,,,				2504	0.0					uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(16267-16269)GCA>ACA		mucin 16		C	THR/ALA	0,4232		0,0,2116	418.0	398.0	404.0		16267	-3.2	0.0	19	dbSNP_134	404	4,8468		0,4,4232	yes	missense	MUC16	NM_024690.2	58	0,4,6348	TT,TC,CC		0.0472,0.0,0.0315	probably-damaging	5423/14508	9071179	4,12700	2116	4236	6352	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071179C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16267G>A	19.37:g.9071179C>T	ENSP00000381008:p.Ala5423Thr						p.A5423T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	16471	-			5425			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.16267G>A	CCDS54212.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	c	5.769	0.326193	0.10900	0.0	4.72E-4	ENSG00000181143	ENST00000397910	T	0.30714	1.52	2.2	-3.17	0.05202	.	.	.	.	.	T	0.16685	0.0401	L	0.27053	0.805	.	.	.	B	0.09022	0.002	B	0.06405	0.002	T	0.25882	-1.0119	8	0.87932	D	0	.	2.6737	0.05075	0.2165:0.3379:0.0:0.4456	.	5423	B5ME49	.	T	5423	ENSP00000381008:A5423T	ENSP00000381008:A5423T	A	-	1	0	MUC16	8932179	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.045000	0.14013	-0.685000	0.05177	-0.671000	0.03813	GCA		PASS	0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		68	640	68	640	---	---	---	---
DOCK6	57572	broad.mit.edu	37	19	11314989	11314989	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:11314989C>A	ENST00000294618.7	-	40	5118	c.5107G>T	c.(5107-5109)Gtg>Ttg	p.V1703L	DOCK6_ENST00000586702.1_5'Flank|DOCK6_ENST00000319867.7_Missense_Mutation_p.V1042L|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1703	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.V1703L(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ACCTCATTCACCGCCTCGTAG	0.592											OREG0025251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mqs.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(5107-5109)GTG>TTG		dedicator of cytokinesis 6							43.0	46.0	45.0					19																	11314989		2025	4162	6187	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11314989C>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.5107G>T	19.37:g.11314989C>A	ENSP00000294618:p.Val1703Leu		OREG0025251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	671	DOCK6_uc002mqr.3_Missense_Mutation_p.V101L|DOCK6_uc010xlq.1_Missense_Mutation_p.V1042L	p.V1703L	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			40	5148	-			1703			DHR-2.		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.5107G>T	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088401	0.36855	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.24538	2.61;1.85	4.87	4.87	0.63330	.	0.060198	0.64402	D	0.000004	T	0.26738	0.0654	L	0.44542	1.39	0.38966	D	0.958642	B;B;B	0.22909	0.077;0.001;0.077	B;B;B	0.24155	0.051;0.004;0.051	T	0.11767	-1.0574	10	0.66056	D	0.02	-12.6698	17.178	0.86846	0.0:1.0:0.0:0.0	.	1042;1703;1042	C9IZV6;Q96HP0;B4DIL4	.;DOCK6_HUMAN;.	L	1703;1042	ENSP00000294618:V1703L;ENSP00000321556:V1042L	ENSP00000294618:V1703L	V	-	1	0	DOCK6	11175989	0.998000	0.40836	0.906000	0.35671	0.003000	0.03518	3.609000	0.54117	2.419000	0.82065	0.555000	0.69702	GTG		PASS	0.592	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		7	47	7	47	---	---	---	---
ILVBL	10994	broad.mit.edu	37	19	15234201	15234201	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:15234201T>C	ENST00000263383.3	-	3	461	c.322A>G	c.(322-324)Atg>Gtg	p.M108V	ILVBL_ENST00000531635.1_5'UTR|AC003956.1_ENST00000598450.1_RNA|ILVBL_ENST00000534378.1_Start_Codon_SNP_p.M1V	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	108						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)	p.M108V(1)		NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						AGGCGGGCCATAGCATCAGCA	0.612																																						uc002nam.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(322-324)ATG>GTG		ilvB (bacterial acetolactate synthase)-like							74.0	63.0	67.0					19																	15234201		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15234201T>C	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.322A>G	19.37:g.15234201T>C	ENSP00000263383:p.Met108Val					ILVBL_uc010dzw.2_Missense_Mutation_p.M1V|ILVBL_uc010dzx.1_Missense_Mutation_p.M108V	p.M108V	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN			3	443	-			108					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.322A>G	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.876087	0.00537	.	.	ENSG00000105135	ENST00000263383;ENST00000269733;ENST00000527093;ENST00000533747	T	0.27256	1.68	4.19	3.15	0.36227	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain (1);	0.060870	0.64402	N	0.000004	T	0.06142	0.0159	N	0.00583	-1.355	0.28106	N	0.931198	B	0.02656	0.0	B	0.04013	0.001	T	0.34527	-0.9825	10	0.08837	T	0.75	-12.3841	8.9974	0.36061	0.0:0.8833:0.0:0.1167	.	108	A1L0T0	ILVBL_HUMAN	V	108	ENSP00000263383:M108V	ENSP00000263383:M108V	M	-	1	0	ILVBL	15095201	1.000000	0.71417	0.994000	0.49952	0.121000	0.20230	4.586000	0.60984	0.726000	0.32339	-0.464000	0.05259	ATG		PASS	0.612	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		16	63	16	63	---	---	---	---
KIAA1683	80726	broad.mit.edu	37	19	18376717	18376717	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:18376717C>A	ENST00000600328.3	-	3	1826	c.1633G>T	c.(1633-1635)Ggc>Tgc	p.G545C	KIAA1683_ENST00000600359.3_Missense_Mutation_p.G499C|KIAA1683_ENST00000392413.4_Missense_Mutation_p.G545C			Q9H0B3	K1683_HUMAN	KIAA1683	545						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.G545C(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGGATGGAGCCTGAGGTGTTG	0.587																																						uc002nin.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1633-1635)GGC>TGC		KIAA1683 isoform b							70.0	60.0	64.0					19																	18376717		2203	4300	6503	SO:0001583	missense	80726					mitochondrion		g.chr19:18376717C>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.1633G>T	19.37:g.18376717C>A	ENSP00000470780:p.Gly545Cys					KIAA1683_uc010ebn.2_Missense_Mutation_p.G545C|KIAA1683_uc010xqe.1_Missense_Mutation_p.G499C	p.G545C	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN			3	1849	-			545					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.1633G>T	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826770	0.32329	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634	T;T;T	0.03717	3.88;3.9;3.83	3.89	-1.2	0.09554	.	0.449545	0.16618	N	0.206639	T	0.04679	0.0127	L	0.40543	1.245	0.09310	N	1	D;D	0.63880	0.987;0.993	P;P	0.52881	0.57;0.712	T	0.32693	-0.9897	10	0.49607	T	0.09	-4.6889	1.7374	0.02944	0.4836:0.2666:0.1026:0.1471	.	545;545	E9PDE0;Q9H0B3	.;K1683_HUMAN	C	545;545;499	ENSP00000376213:G545C;ENSP00000352774:G545C;ENSP00000404501:G499C	ENSP00000352774:G545C	G	-	1	0	KIAA1683	18237717	0.009000	0.17119	0.000000	0.03702	0.000000	0.00434	0.362000	0.20284	-0.463000	0.06973	-0.314000	0.08810	GGC		PASS	0.587	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			7	71	7	71	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22940611	22940611	+	Silent	SNP	A	A	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:22940611A>G	ENST00000596209.1	-	4	2190	c.2100T>C	c.(2098-2100)acT>acC	p.T700T	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Silent_p.T609T	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	700					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.T609T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTTTCTTTCCAGTATGAATTA	0.363																																						uc010xrh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1825-1827)ACT>ACC		zinc finger protein 99							43.0	46.0	45.0					19																	22940611		2064	4220	6284	SO:0001819	synonymous_variant	7652							g.chr19:22940611A>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2100T>C	19.37:g.22940611A>G							p.T609T	NM_001080409	NP_001073878					5	1827	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.1827T>C	CCDS59369.1																																																																																				PASS	0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		11	99	11	99	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22941338	22941338	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:22941338C>T	ENST00000596209.1	-	4	1463	c.1373G>A	c.(1372-1374)tGc>tAc	p.C458Y	ZNF99_ENST00000397104.3_Missense_Mutation_p.C367Y	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	458					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.C367Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGCTTTGCTGCATTCTTCACA	0.358																																						uc010xrh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1099-1101)TGC>TAC		zinc finger protein 99							74.0	77.0	76.0					19																	22941338		2043	4219	6262	SO:0001583	missense	7652							g.chr19:22941338C>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1373G>A	19.37:g.22941338C>T	ENSP00000472969:p.Cys458Tyr						p.C367Y	NM_001080409	NP_001073878					5	1100	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1100G>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	13.62	2.292985	0.40594	.	.	ENSG00000213973	ENST00000397104	D	0.85861	-2.04	1.28	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92681	0.7674	M	0.92459	3.31	0.40132	D	0.976732	D	0.69078	0.997	D	0.83275	0.996	D	0.92278	0.5831	9	0.87932	D	0	.	9.4929	0.38971	0.0:1.0:0.0:0.0	.	367	A8MXY4	ZNF99_HUMAN	Y	367	ENSP00000380293:C367Y	ENSP00000380293:C367Y	C	-	2	0	ZNF99	22733178	0.179000	0.23135	0.005000	0.12908	0.035000	0.12851	1.437000	0.34991	0.675000	0.31264	0.395000	0.25975	TGC		PASS	0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		12	91	12	91	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22952122	22952122	+	Missense_Mutation	SNP	G	G	C	rs558219171		TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:22952122G>C	ENST00000596209.1	-	2	98	c.8C>G	c.(7-9)tCg>tGg	p.S3W	ZNF99_ENST00000397104.3_Missense_Mutation_p.S24W	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	3					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.S24W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAATGTCAACGATCCCTGAAA	0.388																																						uc010xrh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(70-72)TCG>TGG		zinc finger protein 99							65.0	70.0	68.0					19																	22952122		2186	4299	6485	SO:0001583	missense	7652							g.chr19:22952122G>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.8C>G	19.37:g.22952122G>C	ENSP00000472969:p.Ser3Trp						p.S24W	NM_001080409	NP_001073878					2	71	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.71C>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	g	4.871	0.161942	0.09287	.	.	ENSG00000213973	ENST00000397104	T	0.00912	5.55	1.04	-2.08	0.07254	Krueppel-associated box (1);	.	.	.	.	T	0.01976	0.0062	L	0.54323	1.7	0.09310	N	1	D	0.64830	0.994	P	0.61477	0.889	T	0.37220	-0.9715	9	0.44086	T	0.13	.	0.1522	0.00094	0.2426:0.2504:0.2561:0.2508	.	24	A8MXY4	ZNF99_HUMAN	W	24	ENSP00000380293:S24W	ENSP00000380293:S24W	S	-	2	0	ZNF99	22743962	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.528000	0.06193	-1.411000	0.02032	-1.415000	0.01116	TCG		PASS	0.388	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		15	97	15	97	---	---	---	---
LSM14A	26065	broad.mit.edu	37	19	34712450	34712450	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:34712450A>G	ENST00000433627.5	+	9	1250	c.1175A>G	c.(1174-1176)aAt>aGt	p.N392S	LSM14A_ENST00000544216.3_Missense_Mutation_p.N392S|LSM14A_ENST00000540746.2_Missense_Mutation_p.N351S	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	392					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.N392S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AGAAGATTAAATGCTGAAACA	0.463																																						uc002nvb.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1174-1176)AAT>AGT		LSM14 homolog A isoform a							82.0	69.0	74.0					19																	34712450		2203	4300	6503	SO:0001583	missense	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34712450A>G	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.1175A>G	19.37:g.34712450A>G	ENSP00000413964:p.Asn392Ser					LSM14A_uc002nva.3_Missense_Mutation_p.N392S|LSM14A_uc010xru.1_Missense_Mutation_p.N351S|LSM14A_uc002nvc.3_Missense_Mutation_p.N198S	p.N392S	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN			9	1371	+	Esophageal squamous(110;0.162)		392			TFG box.		B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	c.1175A>G	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	a	27.6	4.844127	0.91197	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.58210	0.35;0.36;0.39	5.96	5.96	0.96718	FFD/TFG box motif (1);	0.000000	0.85682	D	0.000000	T	0.78991	0.4371	M	0.91717	3.235	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.85130	0.995;0.989;0.997	D	0.83929	0.0305	10	0.87932	D	0	-17.9772	16.4277	0.83824	1.0:0.0:0.0:0.0	.	351;392;392	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	S	392;392;351	ENSP00000446271:N392S;ENSP00000413964:N392S;ENSP00000446451:N351S	ENSP00000314768:N392S	N	+	2	0	LSM14A	39404290	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.874000	0.92363	2.279000	0.76181	0.533000	0.62120	AAT		PASS	0.463	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		12	65	12	65	---	---	---	---
ARHGAP33	115703	broad.mit.edu	37	19	36273406	36273406	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:36273406A>G	ENST00000007510.4	+	13	1361	c.1217A>G	c.(1216-1218)tAt>tGt	p.Y406C	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.Y406C|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.Y270C			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	406	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)	p.Y406C(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TACCAGCTCTATGGGAAGTTC	0.617																																						uc002obr.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(1216-1218)TAT>TGT		sorting nexin 26							57.0	51.0	53.0					19																	36273406		2203	4300	6503	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36273406A>G	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.1217A>G	19.37:g.36273406A>G	ENSP00000007510:p.Tyr406Cys					ARHGAP33_uc002obs.1_Missense_Mutation_p.Y406C|ARHGAP33_uc002obt.1_Missense_Mutation_p.Y270C|ARHGAP33_uc010eel.2_5'UTR|ARHGAP33_uc002obv.1_5'Flank	p.Y406C	NM_052948	NP_443180	O14559	RHG33_HUMAN			13	1302	+			406			Rho-GAP.		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.1217A>G		.	.	.	.	.	.	.	.	.	.	a	14.96	2.692773	0.48202	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.24908	1.83;1.83;1.83	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000001	T	0.65749	0.2721	H	0.97214	3.96	0.45914	D	0.998758	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.78743	-0.2085	10	0.72032	D	0.01	.	14.0423	0.64684	1.0:0.0:0.0:0.0	.	270;406	O14559-10;O14559-11	.;.	C	406;406;270	ENSP00000007510:Y406C;ENSP00000320038:Y406C;ENSP00000368227:Y270C	ENSP00000007510:Y406C	Y	+	2	0	ARHGAP33	40965246	1.000000	0.71417	0.996000	0.52242	0.297000	0.27493	7.308000	0.78929	1.969000	0.57287	0.375000	0.23000	TAT		PASS	0.617	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		16	65	16	65	---	---	---	---
ARHGAP33	115703	broad.mit.edu	37	19	36276001	36276001	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:36276001G>A	ENST00000007510.4	+	17	1858	c.1714G>A	c.(1714-1716)Gcg>Acg	p.A572T	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A572T|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A436T			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	572					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)	p.A572T(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GGCCTCACCTGCGGAAAGGTG	0.701																																						uc002obr.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(1714-1716)GCG>ACG		sorting nexin 26							7.0	9.0	8.0					19																	36276001		2134	4216	6350	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36276001G>A	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.1714G>A	19.37:g.36276001G>A	ENSP00000007510:p.Ala572Thr					ARHGAP33_uc002obs.1_Missense_Mutation_p.A572T|ARHGAP33_uc002obt.1_Missense_Mutation_p.A436T|ARHGAP33_uc010eel.2_Missense_Mutation_p.A160T|ARHGAP33_uc002obv.1_Missense_Mutation_p.A160T	p.A572T	NM_052948	NP_443180	O14559	RHG33_HUMAN			17	1799	+			572					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.1714G>A		.	.	.	.	.	.	.	.	.	.	G	6.929	0.541172	0.13250	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.11385	3.22;2.78;3.22	4.41	4.41	0.53225	.	0.510237	0.15802	N	0.243898	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B;B;B	0.12013	0.005;0.005;0.001	B;B;B	0.18263	0.021;0.018;0.002	T	0.30794	-0.9966	10	0.34782	T	0.22	.	15.9311	0.79659	0.0:0.0:1.0:0.0	.	572;436;572	O14559;O14559-10;O14559-11	RHG33_HUMAN;.;.	T	572;572;436	ENSP00000007510:A572T;ENSP00000320038:A572T;ENSP00000368227:A436T	ENSP00000007510:A572T	A	+	1	0	ARHGAP33	40967841	0.841000	0.29509	0.229000	0.23960	0.037000	0.13140	2.915000	0.48805	2.311000	0.77944	0.313000	0.20887	GCG		PASS	0.701	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		5	9	5	9	---	---	---	---
ZNF585A	199704	broad.mit.edu	37	19	37644466	37644466	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:37644466C>T	ENST00000356958.4	-	5	593	c.335G>A	c.(334-336)aGt>aAt	p.S112N	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.S57N|ZNF585A_ENST00000292841.5_Missense_Mutation_p.S57N|ZNF585A_ENST00000355533.2_Missense_Mutation_p.S57N			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S57N(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTGTTTATAACTGAGGATTTT	0.353																																						uc002ofo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(334-336)AGT>AAT		zinc finger protein 585A							139.0	144.0	143.0					19																	37644466		2202	4300	6502	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37644466C>T	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.335G>A	19.37:g.37644466C>T	ENSP00000349440:p.Ser112Asn					ZNF585A_uc002ofm.1_Missense_Mutation_p.S57N|ZNF585A_uc002ofn.1_Missense_Mutation_p.S57N	p.S112N	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	566	-			112					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.335G>A		.	.	.	.	.	.	.	.	.	.	C	5.092	0.202636	0.09652	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.29917	3.2;3.24;3.24;1.55	3.76	-4.77	0.03219	.	0.582609	0.14231	N	0.332706	T	0.14227	0.0344	L	0.31845	0.965	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26155	-1.0111	10	0.17832	T	0.49	.	2.3099	0.04184	0.1031:0.3221:0.2922:0.2826	.	112	Q6P3V2	Z585A_HUMAN	N	112;57;57;57	ENSP00000349440:S112N;ENSP00000292841:S57N;ENSP00000375998:S57N;ENSP00000347724:S57N	ENSP00000292841:S57N	S	-	2	0	ZNF585A	42336306	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.034000	0.03567	-1.251000	0.02494	-2.462000	0.00205	AGT		PASS	0.353	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		18	331	18	331	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38948696	38948696	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:38948696G>T	ENST00000359596.3	+	18	1931	c.1931G>T	c.(1930-1932)cGc>cTc	p.R644L	RYR1_ENST00000355481.4_Missense_Mutation_p.R644L|RYR1_ENST00000360985.3_Missense_Mutation_p.R644L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	644	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R644L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGCAGCATCCGCCCCAACATC	0.567																																						uc002oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(1930-1932)CGC>CTC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						75.0	68.0	71.0					19																	38948696		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38948696G>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1931G>T	19.37:g.38948696G>T	ENSP00000352608:p.Arg644Leu					RYR1_uc002oiu.2_Missense_Mutation_p.R644L	p.R644L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		18	2061	+	all_cancers(60;7.91e-06)		644			Cytoplasmic.|B30.2/SPRY 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.1931G>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939566	0.73557	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97404	-4.36;-4.36;-4.37	4.79	4.79	0.61399	B30.2/SPRY domain (1);	0.000000	0.64402	U	0.000002	D	0.98679	0.9557	M	0.90483	3.12	0.49213	D	0.999761	D;D	0.89917	1.0;0.994	D;D	0.80764	0.994;0.972	D	0.99597	1.0977	10	0.72032	D	0.01	.	17.7852	0.88535	0.0:0.0:1.0:0.0	.	644;644	P21817-2;P21817	.;RYR1_HUMAN	L	644	ENSP00000352608:R644L;ENSP00000347667:R644L;ENSP00000354254:R644L	ENSP00000347667:R644L	R	+	2	0	RYR1	43640536	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.653000	0.98506	2.536000	0.85505	0.543000	0.68304	CGC		PASS	0.567	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			49	176	49	176	---	---	---	---
FBXO17	115290	broad.mit.edu	37	19	39439283	39439283	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:39439283T>C	ENST00000292852.4	-	3	726	c.385A>G	c.(385-387)Aac>Gac	p.N129D	SARS2_ENST00000448145.2_5'UTR|FBXO17_ENST00000595329.1_Missense_Mutation_p.N129D|CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.E33G	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	129	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)	p.N138D(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCCAGCCGTTCCCGCCATGC	0.592																																						uc002okg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(385-387)AAC>GAC		F-box protein FBG4 isoform 2							70.0	65.0	67.0					19																	39439283		2203	4300	6503	SO:0001583	missense	115290				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39439283T>C	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"""F-boxes /  ""other"""""	18754	protein-coding gene	gene with protein product	"""F-box only protein 26"""	609094	"""F-box only protein 17"""	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.385A>G	19.37:g.39439283T>C	ENSP00000292852:p.Asn129Asp					SARS2_uc010xuq.1_5'UTR|FBXO17_uc002okf.1_Missense_Mutation_p.N138D	p.N129D	NM_024907	NP_079183	Q96EF6	FBX17_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		3	557	-	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		129			FBA.		Q96LQ4	Missense_Mutation	SNP	ENST00000292852.4	37	c.385A>G	CCDS12526.1	.	.	.	.	.	.	.	.	.	.	T	8.999	0.979570	0.18812	.	.	ENSG00000104835	ENST00000392076;ENST00000292852	T	0.18657	2.2	4.66	2.14	0.27477	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.456419	0.20009	N	0.101171	T	0.04318	0.0119	N	0.00778	-1.195	.	.	.	B	0.20887	0.049	B	0.18561	0.022	T	0.37478	-0.9704	9	0.02654	T	1	.	4.9403	0.13961	0.0:0.3009:0.0:0.6991	.	129	Q96EF6	FBX17_HUMAN	D	138;129	ENSP00000292852:N129D	ENSP00000292852:N129D	N	-	1	0	FBXO17	44131123	0.139000	0.22563	0.986000	0.45419	0.927000	0.56198	0.731000	0.26058	0.775000	0.33450	0.369000	0.22263	AAC		PASS	0.592	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907		4	105	4	105	---	---	---	---
HIPK4	147746	broad.mit.edu	37	19	40886743	40886743	+	Silent	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:40886743G>A	ENST00000291823.2	-	3	1439	c.1155C>T	c.(1153-1155)gcC>gcT	p.A385A		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	385					histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A310A(1)|p.A385A(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CATCTTCTGCGGCCACGACGG	0.662																																						uc002onp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|stomach(1)	2						c.(1153-1155)GCC>GCT		homeodomain interacting protein kinase 4							61.0	67.0	65.0					19																	40886743		2203	4300	6503	SO:0001819	synonymous_variant	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40886743G>A	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.1155C>T	19.37:g.40886743G>A							p.A385A	NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		3	1440	-			385					A8K863|Q96M54	Silent	SNP	ENST00000291823.2	37	c.1155C>T	CCDS12555.1																																																																																				PASS	0.662	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		8	201	8	201	---	---	---	---
CYP2A6	1548	broad.mit.edu	37	19	41354251	41354251	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:41354251C>T	ENST00000301141.5	-	4	547	c.527G>A	c.(526-528)cGc>cAc	p.R176H	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	176					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.R176H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GGAGACTGTGCGGCTCAGGAA	0.527																																						uc002opl.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(526-528)CGC>CAC		cytochrome P450, family 2, subfamily A,	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)						127.0	119.0	122.0					19																	41354251		2203	4298	6501	SO:0001583	missense	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41354251C>T	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.527G>A	19.37:g.41354251C>T	ENSP00000301141:p.Arg176His					CYP2A6_uc010ehe.1_5'UTR|CYP2A6_uc010ehf.1_RNA	p.R176H	NM_000762	NP_000753	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		4	548	-			176					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	c.527G>A	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	3.814	-0.039201	0.07497	.	.	ENSG00000255974	ENST00000301141	T	0.69306	-0.39	2.69	-0.992	0.10232	.	0.398812	0.25639	U	0.029288	T	0.52451	0.1735	N	0.25201	0.72	0.09310	N	1	D	0.57899	0.981	P	0.52424	0.698	T	0.48875	-0.8996	10	0.34782	T	0.22	.	3.8704	0.09035	0.0:0.4499:0.1829:0.3672	.	176	P11509	CP2A6_HUMAN	H	176	ENSP00000301141:R176H	ENSP00000301141:R176H	R	-	2	0	CYP2A6	46046091	0.000000	0.05858	0.071000	0.20095	0.041000	0.13682	-0.010000	0.12743	-0.267000	0.09325	-0.549000	0.04216	CGC		PASS	0.527	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		8	228	8	228	---	---	---	---
AXL	558	broad.mit.edu	37	19	41744043	41744043	+	Silent	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:41744043G>T	ENST00000301178.4	+	7	1168	c.978G>T	c.(976-978)gtG>gtT	p.V326V	AXL_ENST00000359092.3_Silent_p.V326V|AXL_ENST00000593513.1_Silent_p.V58V	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	326	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V326V(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGCTTCCTGTGGAGACGCCGG	0.622																																						uc010ehj.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						c.(976-978)GTG>GTT		AXL receptor tyrosine kinase isoform 1							89.0	86.0	87.0					19																	41744043		2203	4300	6503	SO:0001819	synonymous_variant	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41744043G>T	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.978G>T	19.37:g.41744043G>T						CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Silent_p.V326V|AXL_uc010ehk.2_Silent_p.V326V	p.V326V	NM_021913	NP_068713	P30530	UFO_HUMAN			7	1168	+			326			Extracellular (Potential).|Fibronectin type-III 1.		Q8N5L2|Q9UD27	Silent	SNP	ENST00000301178.4	37	c.978G>T	CCDS12575.1																																																																																				PASS	0.622	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			31	210	31	210	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42795618	42795618	+	Splice_Site	SNP	G	G	C	rs71336809		TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:42795618G>C	ENST00000575354.2	+	10	2738	c.2698G>C	c.(2698-2700)Gcc>Ccc	p.A900P	CIC_ENST00000160740.3_Splice_Site_p.A900P|CIC_ENST00000572681.2_Splice_Site_p.A1809P	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	900	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A900P(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCCCCCAAAGGTGAGACCTG	0.617			"""Mis, F, S"""		oligodendroglioma																																	uc002otf.1				Rec	yes		19	19q13.2	23152	T	capicua homolog			O	DUX4		soft tissue sarcoma		1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11						c.(2698-2700)GCC>CCC		capicua homolog							55.0	55.0	55.0					19																	42795618		2174	4268	6442	SO:0001630	splice_region_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795618G>C	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2698+1G>C	19.37:g.42795618G>C							p.A900P	NM_015125	NP_055940	Q96RK0	CIC_HUMAN			10	2738	+		Prostate(69;0.00682)	900			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.2698G>C	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740203	0.30865	.	.	ENSG00000079432	ENST00000160740	.	.	.	5.16	3.04	0.35103	.	.	.	.	.	T	0.27489	0.0675	N	0.19112	0.55	0.32881	D	0.510544	P	0.37864	0.61	B	0.38803	0.282	T	0.40534	-0.9558	8	0.87932	D	0	-17.808	6.3333	0.21282	0.2838:0.0:0.7162:0.0	.	900	Q96RK0	CIC_HUMAN	P	900	.	ENSP00000160740:A900P	A	+	1	0	CIC	47487458	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	4.534000	0.60622	1.190000	0.43042	-0.258000	0.10820	GCC		PASS	0.617	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2		Missense_Mutation	17	167	17	167	---	---	---	---
ARHGAP35	2909	broad.mit.edu	37	19	47423517	47423517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:47423517C>T	ENST00000404338.3	+	1	1585	c.1585C>T	c.(1585-1587)Cga>Tga	p.R529*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	529	FF 4.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.R529*(2)									AGAGGAACAGCGATTTAAAGC	0.443																																						uc010ekv.2																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(1)	1						c.(1585-1587)CGA>TGA		glucocorticoid receptor DNA binding factor 1							157.0	153.0	155.0					19																	47423517		1968	4152	6120	SO:0001587	stop_gained	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47423517C>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1585C>T	19.37:g.47423517C>T	ENSP00000385720:p.Arg529*						p.R529*	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	1585	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	529			FF 4.		A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	ENST00000404338.3	37	c.1585C>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	37	6.029047	0.97216	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	.	.	.	5.82	3.66	0.41972	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.1871	13.8748	0.63647	0.3934:0.6066:0.0:0.0	.	.	.	.	X	529	.	ENSP00000324820:R529X	R	+	1	2	ARHGAP35	52115357	0.032000	0.19561	1.000000	0.80357	0.997000	0.91878	-0.314000	0.08092	0.781000	0.33589	0.561000	0.74099	CGA		PASS	0.443	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		51	298	51	298	---	---	---	---
CA11	770	broad.mit.edu	37	19	49142814	49142814	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:49142814G>T	ENST00000084798.4	-	6	1311	c.632C>A	c.(631-633)tCc>tAc	p.S211Y	DBP_ENST00000601104.1_5'Flank|SEC1P_ENST00000430145.2_RNA|DBP_ENST00000222122.5_5'Flank	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	211						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)		p.S211Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	ACTCTTGTAGGAGATGCGAGT	0.577																																						uc002pjz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(631-633)TCC>TAC		carbonic anhydrase XI precursor							145.0	123.0	130.0					19																	49142814		2203	4300	6503	SO:0001583	missense	770					extracellular region		g.chr19:49142814G>T	AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.632C>A	19.37:g.49142814G>T	ENSP00000084798:p.Ser211Tyr					SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|DBP_uc002pjx.3_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	p.S211Y	NM_001217	NP_001208	O75493	CAH11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	6	1194	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	211					O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	ENST00000084798.4	37	c.632C>A	CCDS12729.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041299	0.55003	.	.	ENSG00000063180	ENST00000084798	T	0.67523	-0.27	3.34	3.34	0.38264	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.135862	0.46145	D	0.000303	T	0.75332	0.3835	M	0.68952	2.095	0.34673	D	0.72386	D	0.69078	0.997	P	0.62649	0.905	T	0.82478	-0.0437	10	0.59425	D	0.04	.	10.3541	0.43954	0.0:0.0:1.0:0.0	.	211	O75493	CAH11_HUMAN	Y	211	ENSP00000084798:S211Y	ENSP00000084798:S211Y	S	-	2	0	CA11	53834626	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.173000	0.50839	1.866000	0.54105	0.455000	0.32223	TCC		PASS	0.577	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217		13	62	13	62	---	---	---	---
KCNC3	3748	broad.mit.edu	37	19	50823879	50823879	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:50823879G>A	ENST00000477616.1	-	3	2435	c.2141C>T	c.(2140-2142)gCc>gTc	p.A714V	KCNC3_ENST00000391818.2_Missense_Mutation_p.P51S|KCNC3_ENST00000474951.1_Missense_Mutation_p.A30V|KCNC3_ENST00000376959.2_Missense_Mutation_p.A714V	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	714					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.A714V(1)		endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	AGGGGAAGGGGCATAGTCGGT	0.662																																					Melanoma(91;1496 2324 50908)	uc002pru.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2140-2142)GCC>GTC		Shaw-related voltage-gated potassium channel							40.0	36.0	37.0					19																	50823879		2203	4299	6502	SO:0001583	missense	3748				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:50823879G>A	AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.2141C>T	19.37:g.50823879G>A	ENSP00000434241:p.Ala714Val					KCNC3_uc002prt.1_Missense_Mutation_p.A350V	p.A714V	NM_004977	NP_004968	Q14003	KCNC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	3	2436	-		all_neural(266;0.057)|Ovarian(192;0.208)	714			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000477616.1	37	c.2141C>T	CCDS12793.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.63|13.63	2.294347|2.294347	0.40594|0.40594	.|.	.|.	ENSG00000131398|ENSG00000131398	ENST00000376959;ENST00000474951;ENST00000477616;ENST00000443843|ENST00000391818	D;D|.	0.98090|.	-4.7;-4.71|.	2.72|2.72	2.72|2.72	0.32119|0.32119	.|.	6.962090|.	0.02091|.	U|.	0.053176|.	T|T	0.35941|0.35941	0.0949|0.0949	N|N	0.24115|0.24115	0.695|0.695	0.28797|0.28797	N|N	0.899011|0.899011	B;B|.	0.19331|.	0.035;0.003|.	B;B|.	0.15052|.	0.012;0.001|.	T|T	0.37502|0.37502	-0.9703|-0.9703	10|6	0.56958|0.87932	D|D	0.05|0	.|.	11.2081|11.2081	0.48782|0.48782	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	714;714|.	Q14003;E7ETH1|.	KCNC3_HUMAN;.|.	V|S	714;30;714;528|51	ENSP00000366158:A714V;ENSP00000434241:A714V|.	ENSP00000366158:A714V|ENSP00000375694:P51S	A|P	-|-	2|1	0|0	KCNC3|KCNC3	55515691|55515691	0.999000|0.999000	0.42202|0.42202	0.995000|0.995000	0.50966|0.50966	0.882000|0.882000	0.50991|0.50991	2.813000|2.813000	0.48002|0.48002	1.540000|1.540000	0.49301|0.49301	0.460000|0.460000	0.39030|0.39030	GCC|CCC		PASS	0.662	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314288.2	NM_004977		4	43	4	43	---	---	---	---
EPN1	29924	broad.mit.edu	37	19	56203162	56203162	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr19:56203162C>A	ENST00000270460.6	+	7	1116	c.805C>A	c.(805-807)Cct>Act	p.P269T	EPN1_ENST00000085079.7_Missense_Mutation_p.P244T|EPN1_ENST00000411543.2_Missense_Mutation_p.P355T|AC010525.4_ENST00000585559.1_RNA	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	269	Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.P355T(1)|p.P269T(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GGCCCCAGCTCCTGCCCCGAC	0.697																																						uc002qlw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(805-807)CCT>ACT		epsin 1 isoform b							53.0	61.0	58.0					19																	56203162		1941	4116	6057	SO:0001583	missense	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56203162C>A	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.805C>A	19.37:g.56203162C>A	ENSP00000270460:p.Pro269Thr					EPN1_uc002qlv.2_Missense_Mutation_p.P244T|EPN1_uc010etd.2_Missense_Mutation_p.P269T|EPN1_uc002qlx.2_Missense_Mutation_p.P355T	p.P269T	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	7	1147	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	269			Ala/Gly/Pro-rich.		Q86ST3|Q9HA18	Missense_Mutation	SNP	ENST00000270460.6	37	c.805C>A	CCDS46199.1	.	.	.	.	.	.	.	.	.	.	C	8.533	0.871481	0.17322	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.18016	2.39;2.29;2.24	3.05	1.98	0.26296	.	0.382767	0.25842	N	0.027951	T	0.11836	0.0288	L	0.48877	1.53	0.24512	N	0.994201	B;B;B;B	0.18166	0.0;0.026;0.001;0.001	B;B;B;B	0.11329	0.001;0.006;0.001;0.001	T	0.38112	-0.9676	10	0.02654	T	1	-4.3266	10.3051	0.43676	0.0:0.7781:0.2218:0.0	.	230;355;269;244	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	T	269;244;230;355	ENSP00000270460:P269T;ENSP00000085079:P244T;ENSP00000406209:P355T	ENSP00000085079:P244T	P	+	1	0	EPN1	60894974	0.036000	0.19791	0.299000	0.25016	0.537000	0.34900	1.136000	0.31467	0.839000	0.34971	0.462000	0.41574	CCT		PASS	0.697	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		4	183	4	183	---	---	---	---
SLC52A3	113278	broad.mit.edu	37	20	744208	744208	+	Missense_Mutation	SNP	A	A	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr20:744208A>C	ENST00000217254.7	-	3	1248	c.1007T>G	c.(1006-1008)cTg>cGg	p.L336R	SLC52A3_ENST00000381944.3_Missense_Mutation_p.L336R|SLC52A3_ENST00000473664.1_Intron	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	336					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)	p.L336R(1)									GGTGGCAGCCAGGTGGTAGGC	0.587																																						uc002wed.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1006-1008)CTG>CGG		hypothetical protein LOC113278 precursor							118.0	98.0	105.0					20																	744208		2203	4300	6503	SO:0001583	missense	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:744208A>C	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.1007T>G	20.37:g.744208A>C	ENSP00000217254:p.Leu336Arg					C20orf54_uc002wee.2_Missense_Mutation_p.L336R	p.L336R	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN			3	1346	-			336			Helical; (Potential).		A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP	ENST00000217254.7	37	c.1007T>G	CCDS13007.1	.	.	.	.	.	.	.	.	.	.	A	18.36	3.605867	0.66445	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	T;T	0.80653	-1.4;-1.4	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.90003	0.6879	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.91205	0.4994	10	0.59425	D	0.04	-11.0726	13.6777	0.62465	1.0:0.0:0.0:0.0	.	336;336	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	R	336	ENSP00000217254:L336R;ENSP00000371370:L336R	ENSP00000217254:L336R	L	-	2	0	C20orf54	692208	1.000000	0.71417	0.999000	0.59377	0.391000	0.30476	9.231000	0.95317	1.912000	0.55364	0.459000	0.35465	CTG		PASS	0.587	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		19	148	19	148	---	---	---	---
IDH3B	3420	broad.mit.edu	37	20	2644400	2644400	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr20:2644400T>C	ENST00000380843.4	-	3	152	c.122A>G	c.(121-123)gAg>gGg	p.E41G	RP4-686C3.7_ENST00000418739.1_RNA|IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380851.5_Missense_Mutation_p.E41G	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	41					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.E41G(1)		breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						CCTCACGTCCTCGGCCTCAAT	0.622																																						uc002wgp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(121-123)GAG>GGG		isocitrate dehydrogenase 3, beta subunit isoform	NADH(DB00157)						50.0	50.0	50.0					20																	2644400		2203	4300	6503	SO:0001583	missense	3420				isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr20:2644400T>C		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.122A>G	20.37:g.2644400T>C	ENSP00000370223:p.Glu41Gly					IDH3B_uc002wgq.2_Missense_Mutation_p.E41G|IDH3B_uc002wgr.2_5'UTR|IDH3B_uc010zpz.1_Missense_Mutation_p.E41G	p.E41G	NM_006899	NP_008830	O43837	IDH3B_HUMAN			3	131	-			41					B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Missense_Mutation	SNP	ENST00000380843.4	37	c.122A>G	CCDS13032.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.059596	0.36373	.	.	ENSG00000101365	ENST00000380851;ENST00000380843;ENST00000341825	T;T	0.52526	0.66;0.66	5.11	2.76	0.32466	Isopropylmalate dehydrogenase-like domain (1);	0.421766	0.27664	N	0.018372	T	0.24851	0.0603	N	0.08118	0	0.20821	N	0.999842	B;B	0.11235	0.004;0.002	B;B	0.10450	0.005;0.004	T	0.16541	-1.0399	10	0.54805	T	0.06	-6.3097	6.7348	0.23403	0.1517:0.0:0.1586:0.6896	.	41;41	O43837-2;O43837	.;IDH3B_HUMAN	G	41	ENSP00000370232:E41G;ENSP00000370223:E41G	ENSP00000343215:E41G	E	-	2	0	IDH3B	2592400	0.759000	0.28416	0.408000	0.26446	0.775000	0.43874	3.641000	0.54360	0.377000	0.24735	0.533000	0.62120	GAG		PASS	0.622	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077613.1			11	106	11	106	---	---	---	---
SLC23A2	9962	broad.mit.edu	37	20	4843520	4843520	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr20:4843520C>A	ENST00000379333.1	-	14	1782	c.1390G>T	c.(1390-1392)Gcc>Tcc	p.A464S	SLC23A2_ENST00000338244.1_Missense_Mutation_p.A464S|SLC23A2_ENST00000424750.2_Missense_Mutation_p.A350S	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	464					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.A464S(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGCATGAGGGCTGCTCCGCAC	0.572																																						uc002wlg.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1390-1392)GCC>TCC		solute carrier family 23 (nucleobase							55.0	51.0	52.0					20																	4843520		2203	4300	6503	SO:0001583	missense	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4843520C>A	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1390G>T	20.37:g.4843520C>A	ENSP00000368637:p.Ala464Ser					SLC23A2_uc010zqr.1_Missense_Mutation_p.A349S|SLC23A2_uc002wlh.1_Missense_Mutation_p.A464S	p.A464S	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN			14	1765	-			464			Helical; (Potential).		B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	37	c.1390G>T	CCDS13085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.2|29.2	4.985197|4.985197	0.93044|0.93044	.|.	.|.	ENSG00000089057|ENSG00000089057	ENST00000379333;ENST00000338244;ENST00000424750|ENST00000423430	T;T;T|.	0.17054|.	2.3;2.3;2.3|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.047710|.	0.85682|.	D|.	0.000000|.	T|T	0.77877|0.77877	0.4196|0.4196	M|M	0.77103|0.77103	2.36|2.36	0.58432|0.58432	D|D	0.999999|0.999999	P;P|.	0.51653|.	0.942;0.947|.	P;P|.	0.56563|.	0.729;0.801|.	T|T	0.77021|0.77021	-0.2742|-0.2742	10|5	0.59425|.	D|.	0.04|.	-14.3202|-14.3202	18.5627|18.5627	0.91107|0.91107	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	350;464|.	B4DJZ1;Q9UGH3|.	.;S23A2_HUMAN|.	S|I	464;464;350|220	ENSP00000368637:A464S;ENSP00000344322:A464S;ENSP00000406601:A350S|.	ENSP00000344322:A464S|.	A|S	-|-	1|2	0|0	SLC23A2|SLC23A2	4791520|4791520	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.599000|0.599000	0.36880|0.36880	7.378000|7.378000	0.79679|0.79679	2.813000|2.813000	0.96785|0.96785	0.655000|0.655000	0.94253|0.94253	GCC|AGC		PASS	0.572	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			12	66	12	66	---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47244106	47244106	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr20:47244106C>A	ENST00000371941.3	-	39	4939	c.4917G>T	c.(4915-4917)caG>caT	p.Q1639H	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1639					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)	p.Q1639H(1)		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)			CCTGGGGCATCTGGTCCTTGA	0.647																																						uc002xtw.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|pancreas(1)	6						c.(4915-4917)CAG>CAT		phosphatidylinositol-3,4,							79.0	73.0	75.0					20																	47244106		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.chr20:47244106C>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.4917G>T	20.37:g.47244106C>A	ENSP00000361009:p.Gln1639His					PREX1_uc002xtv.1_Missense_Mutation_p.Q936H	p.Q1639H	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		39	4940	-			1639					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.4917G>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509318	0.64522	.	.	ENSG00000124126	ENST00000371941	T	0.62232	0.04	3.89	1.88	0.25563	.	0.131990	0.32952	U	0.005444	T	0.67562	0.2906	L	0.54323	1.7	0.80722	D	1	P;D	0.76494	0.885;0.999	P;D	0.65010	0.691;0.931	T	0.64508	-0.6391	10	0.59425	D	0.04	.	6.2148	0.20649	0.0:0.6531:0.1542:0.1928	.	1639;936	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	H	1639	ENSP00000361009:Q1639H	ENSP00000361009:Q1639H	Q	-	3	2	PREX1	46677513	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	1.785000	0.38684	0.239000	0.21243	0.462000	0.41574	CAG		PASS	0.647	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		22	126	22	126	---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47258756	47258756	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr20:47258756C>A	ENST00000371941.3	-	29	3747	c.3725G>T	c.(3724-3726)aGc>aTc	p.S1242I	PREX1_ENST00000496915.1_5'UTR|PREX1_ENST00000396220.1_Missense_Mutation_p.S1242I	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1242					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)	p.S1242I(2)		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)			GAAAGCCCGGCTCATGACTGG	0.577																																						uc002xtw.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|pancreas(1)	6						c.(3724-3726)AGC>ATC		phosphatidylinositol-3,4,							96.0	90.0	92.0					20																	47258756		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.chr20:47258756C>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.3725G>T	20.37:g.47258756C>A	ENSP00000361009:p.Ser1242Ile					PREX1_uc002xtv.1_Missense_Mutation_p.S539I	p.S1242I	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		29	3748	-			1242					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.3725G>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	c	11.58	1.680195	0.29872	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.39592	1.07;1.07	5.4	4.43	0.53597	.	0.345922	0.23470	U	0.047822	T	0.34164	0.0888	L	0.47716	1.5	0.25964	N	0.982585	B;B	0.33940	0.005;0.433	B;B	0.31614	0.011;0.133	T	0.23726	-1.0180	10	0.44086	T	0.13	.	10.0162	0.42016	0.0:0.5379:0.3895:0.0725	.	1242;539	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	I	1242	ENSP00000361009:S1242I;ENSP00000379522:S1242I	ENSP00000361009:S1242I	S	-	2	0	PREX1	46692163	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	0.775000	0.26689	1.232000	0.43678	0.639000	0.83563	AGC		PASS	0.577	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		21	64	21	64	---	---	---	---
KRTAP11-1	337880	broad.mit.edu	37	21	32253716	32253716	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr21:32253716G>T	ENST00000332378.4	-	1	158	c.128C>A	c.(127-129)cCc>cAc	p.P43H		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	43						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.P43H(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GAAGGAACTGGGCAAACAGAT	0.577																																						uc002yov.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(127-129)CCC>CAC		keratin associated protein 11-1							74.0	71.0	72.0					21																	32253716		2203	4300	6503	SO:0001583	missense	337880					keratin filament	structural molecule activity	g.chr21:32253716G>T	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.128C>A	21.37:g.32253716G>T	ENSP00000330720:p.Pro43His						p.P43H	NM_175858	NP_787054	Q8IUC1	KR111_HUMAN			1	159	-			43					A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	37	c.128C>A	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925561	0.73213	.	.	ENSG00000182591	ENST00000332378	T	0.43294	0.95	5.4	5.4	0.78164	.	0.061993	0.64402	D	0.000005	T	0.71634	0.3363	M	0.90145	3.09	0.41997	D	0.990874	D	0.89917	1.0	D	0.87578	0.998	T	0.78003	-0.2374	10	0.87932	D	0	-19.6322	17.0969	0.86637	0.0:0.0:1.0:0.0	.	43	Q8IUC1	KR111_HUMAN	H	43	ENSP00000330720:P43H	ENSP00000330720:P43H	P	-	2	0	KRTAP11-1	31175587	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.338000	0.59316	2.722000	0.93159	0.650000	0.86243	CCC		PASS	0.577	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			12	95	12	95	---	---	---	---
TRPM2	7226	broad.mit.edu	37	21	45858950	45858950	+	Splice_Site	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr21:45858950G>T	ENST00000397928.1	+	30	4613	c.4168G>T	c.(4168-4170)Ggc>Tgc	p.G1390C	TRPM2_ENST00000300481.9_Splice_Site_p.G1336C|TRPM2_ENST00000397932.2_Splice_Site_p.G1440C|snoZ6_ENST00000583496.1_RNA|snoZ6_ENST00000581669.1_RNA|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Splice_Site_p.G1390C	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1390	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.G1390C(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GTCTGTCCAGGGCTCCCGGGA	0.657																																						uc002zet.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(4168-4170)GGC>TGC		transient receptor potential cation channel,							54.0	47.0	49.0					21																	45858950		2203	4300	6503	SO:0001630	splice_region_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45858950G>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.4168-1G>T	21.37:g.45858950G>T						TRPM2_uc002zeu.1_Missense_Mutation_p.G1390C|TRPM2_uc002zew.1_Missense_Mutation_p.G1390C|TRPM2_uc010gpt.1_Missense_Mutation_p.G1440C|TRPM2_uc002zex.1_Missense_Mutation_p.G1176C|TRPM2_uc002zey.1_Missense_Mutation_p.G869C|TRPM2_uc011aff.1_Missense_Mutation_p.G71C	p.G1390C	NM_003307	NP_003298	O94759	TRPM2_HUMAN			31	4381	+			1390			NAD.|Nudix hydrolase.|Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.4168G>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908014	0.52333	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932;ENST00000540347	D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06	4.2	4.2	0.49525	NUDIX hydrolase domain (1);NUDIX hydrolase domain-like (1);	0.000000	0.64402	D	0.000001	D	0.94192	0.8136	H	0.95611	3.695	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77557	0.971;0.99;0.99;0.99	D	0.95643	0.8700	9	.	.	.	-31.9337	13.8083	0.63248	0.0:0.0:1.0:0.0	.	71;1440;1176;1390	B4DVI8;E9PGK7;Q5KTC1;O94759	.;.;.;TRPM2_HUMAN	C	1390;1390;1336;1440;134	ENSP00000300482:G1390C;ENSP00000381023:G1390C;ENSP00000300481:G1336C;ENSP00000381026:G1440C	.	G	+	1	0	TRPM2	44683378	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	3.730000	0.55006	2.070000	0.61991	0.313000	0.20887	GGC		PASS	0.657	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	Missense_Mutation	10	73	10	73	---	---	---	---
KRTAP10-1	386677	broad.mit.edu	37	21	45959294	45959294	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr21:45959294G>T	ENST00000400375.1	-	1	784	c.740C>A	c.(739-741)cCt>cAt	p.P247H	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	247	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.P247H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GGAGGAGACAGGCATACAGCA	0.721																																						uc002zfh.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(739-741)CCT>CAT		keratin associated protein 10-1							54.0	61.0	59.0					21																	45959294		2203	4300	6503	SO:0001583	missense	386677					keratin filament		g.chr21:45959294G>T	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.740C>A	21.37:g.45959294G>T	ENSP00000383226:p.Pro247His					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.P247H	NM_198691	NP_941964	P60331	KR101_HUMAN			1	785	-			247			22.|24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	37	c.740C>A	CCDS42954.1	.	.	.	.	.	.	.	.	.	.	g	0.640	-0.813878	0.02798	.	.	ENSG00000215455	ENST00000400375	T	0.01745	4.66	3.97	3.09	0.35607	.	.	.	.	.	T	0.09905	0.0243	M	0.87900	2.915	0.09310	N	1	D	0.76494	0.999	D	0.65233	0.933	T	0.04373	-1.0956	9	0.72032	D	0.01	.	9.4588	0.38772	0.107:0.0:0.893:0.0	.	247	P60331	KR101_HUMAN	H	247	ENSP00000383226:P247H	ENSP00000383226:P247H	P	-	2	0	KRTAP10-1	44783722	0.140000	0.22579	0.004000	0.12327	0.004000	0.04260	1.469000	0.35343	1.025000	0.39708	0.591000	0.81541	CCT		PASS	0.721	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			10	67	10	67	---	---	---	---
POFUT2	23275	broad.mit.edu	37	21	46702334	46702334	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr21:46702334C>T	ENST00000349485.5	-	4	594	c.568G>A	c.(568-570)Gtc>Atc	p.V190I	POFUT2_ENST00000331343.7_Missense_Mutation_p.V190I|POFUT2_ENST00000471540.1_5'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	190					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)	p.V190I(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		AGACAGGAGACGTTTAGACCC	0.557																																						uc002zhc.2																			2	Substitution - Missense(2)		lung(2)		0						c.(568-570)GTC>ATC		protein O-fucosyltransferase 2 isoform C							70.0	65.0	67.0					21																	46702334		2203	4300	6503	SO:0001583	missense	23275				fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	g.chr21:46702334C>T	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.568G>A	21.37:g.46702334C>T	ENSP00000339613:p.Val190Ile					POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Missense_Mutation_p.V190I|POFUT2_uc011afp.1_Missense_Mutation_p.V190I	p.V190I	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN		Colorectal(79;0.243)	4	593	-			190					Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Missense_Mutation	SNP	ENST00000349485.5	37	c.568G>A	CCDS13719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.43|10.43	1.349186|1.349186	0.24426|0.24426	.|.	.|.	ENSG00000186866|ENSG00000186866	ENST00000451615|ENST00000331343;ENST00000349485	.|T;T	.|0.29655	.|1.56;1.56	4.27|4.27	3.38|3.38	0.38709|0.38709	.|.	.|0.123146	.|0.53938	.|D	.|0.000045	T|T	0.26521|0.26521	0.0648|0.0648	L|L	0.58428|0.58428	1.81|1.81	0.80722|0.80722	D|D	1|1	.|P;P	.|0.46784	.|0.849;0.884	.|B;B	.|0.38655	.|0.118;0.278	T|T	0.03840|0.03840	-1.0999|-1.0999	5|10	.|0.30854	.|T	.|0.27	-2.136|-2.136	10.1759|10.1759	0.42937|0.42937	0.0:0.8995:0.0:0.1005|0.0:0.8995:0.0:0.1005	.|.	.|190;190	.|Q9Y2G5-1;Q9Y2G5	.|.;OFUT2_HUMAN	H|I	112|190	.|ENSP00000329682:V190I;ENSP00000339613:V190I	.|ENSP00000329682:V190I	R|V	-|-	2|1	0|0	POFUT2|POFUT2	45526762|45526762	1.000000|1.000000	0.71417|0.71417	0.754000|0.754000	0.31244|0.31244	0.299000|0.299000	0.27559|0.27559	5.440000|5.440000	0.66563|0.66563	0.931000|0.931000	0.37242|0.37242	0.655000|0.655000	0.94253|0.94253	CGT|GTC		PASS	0.557	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227		21	61	21	61	---	---	---	---
MAPK1	5594	broad.mit.edu	37	22	22160146	22160146	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr22:22160146T>C	ENST00000215832.6	-	3	673	c.485A>G	c.(484-486)gAt>gGt	p.D162G	MAPK1_ENST00000398822.3_Missense_Mutation_p.D162G|MAPK1_ENST00000544786.1_Missense_Mutation_p.D162G	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	162	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|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)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.D162G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GACCTTGAGATCACAGGTGGT	0.373																																						uc002zvn.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(484-486)GAT>GGT		mitogen-activated protein kinase 1	Arsenic trioxide(DB01169)						139.0	126.0	131.0					22																	22160146		2203	4300	6503	SO:0001583	missense	5594				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr22:22160146T>C	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.485A>G	22.37:g.22160146T>C	ENSP00000215832:p.Asp162Gly					MAPK1_uc002zvo.2_Missense_Mutation_p.D162G|MAPK1_uc010gtk.1_Missense_Mutation_p.D162G	p.D162G	NM_002745	NP_002736	P28482	MK01_HUMAN		READ - Rectum adenocarcinoma(21;0.0689)	3	725	-	Colorectal(54;0.105)	all_lung(157;3.89e-05)	162			Protein kinase.		A8CZ64	Missense_Mutation	SNP	ENST00000215832.6	37	c.485A>G	CCDS13795.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.711806	0.89112	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.65916	-0.18;-0.18;-0.18	4.77	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70141	0.3190	L	0.31845	0.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.74093	-0.3776	10	0.87932	D	0	-8.0144	14.7475	0.69499	0.0:0.0:0.0:1.0	.	162;162	A8CZ64;P28482	.;MK01_HUMAN	G	162;150;162;162	ENSP00000215832:D162G;ENSP00000381803:D162G;ENSP00000440842:D162G	ENSP00000215832:D162G	D	-	2	0	MAPK1	20490146	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.855000	0.86950	2.131000	0.65755	0.528000	0.53228	GAT		PASS	0.373	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2			38	237	38	237	---	---	---	---
XRCC6	2547	broad.mit.edu	37	22	42024181	42024181	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr22:42024181A>G	ENST00000359308.4	+	2	797	c.142A>G	c.(142-144)Atg>Gtg	p.M48V	XRCC6_ENST00000402580.3_Missense_Mutation_p.M48V|XRCC6_ENST00000405506.1_Intron|XRCC6_ENST00000360079.3_Missense_Mutation_p.M48V|XRCC6_ENST00000405878.1_Missense_Mutation_p.M48V|XRCC6_ENST00000428575.2_Intron			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	48	Ser-rich (potentially targets for phosphorylation).				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)	p.M48V(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CTCCAAGGCTATGTTTGAATC	0.338								Non-homologous end-joining																														uc003bao.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)|kidney(1)	5						c.(142-144)ATG>GTG	Direct_reversal_of_damage|NHEJ	ATP-dependent DNA helicase II, 70 kDa subunit							115.0	109.0	111.0					22																	42024181		2203	4300	6503	SO:0001583	missense	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42024181A>G	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.142A>G	22.37:g.42024181A>G	ENSP00000352257:p.Met48Val					XRCC6_uc003bap.1_Missense_Mutation_p.M48V|XRCC6_uc011apc.1_Intron|XRCC6_uc003baq.1_Missense_Mutation_p.M48V|XRCC6_uc003bar.1_Missense_Mutation_p.M48V|XRCC6_uc003bas.1_Intron	p.M48V	NM_001469	NP_001460	P12956	XRCC6_HUMAN			3	212	+			48			Ser-rich (potentially targets for phosphorylation).		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	c.142A>G	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.137588	0.56936	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000359308;ENST00000405878;ENST00000402409	.	.	.	5.43	5.43	0.79202	Ku70/Ku80, N-terminal alpha/beta (1);	0.000000	0.85682	D	0.000000	T	0.68686	0.3028	M	0.73217	2.22	0.80722	D	1	P;B;B	0.34997	0.479;0.431;0.265	B;B;B	0.42214	0.38;0.105;0.272	T	0.72679	-0.4220	9	0.87932	D	0	-29.454	15.5263	0.75910	1.0:0.0:0.0:0.0	.	48;48;48	B1AHC7;B1AHC8;P12956	.;.;XRCC6_HUMAN	V	48	.	ENSP00000352257:M48V	M	+	1	0	XRCC6	40354127	1.000000	0.71417	0.993000	0.49108	0.906000	0.53458	8.473000	0.90410	2.076000	0.62316	0.378000	0.23410	ATG		PASS	0.338	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		5	169	5	169	---	---	---	---
CERK	64781	broad.mit.edu	37	22	47089397	47089397	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr22:47089397G>T	ENST00000216264.8	-	10	1165	c.1053C>A	c.(1051-1053)tgC>tgA	p.C351*	CERK_ENST00000541677.1_Nonsense_Mutation_p.C153*|CERK_ENST00000471929.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	351					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)	p.C351*(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGCAAACAAAGCATCTGAAAG	0.433																																						uc003bia.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(1051-1053)TGC>TGA		ceramide kinase							148.0	128.0	135.0					22																	47089397		2203	4300	6503	SO:0001587	stop_gained	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47089397G>T	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.1053C>A	22.37:g.47089397G>T	ENSP00000216264:p.Cys351*					CERK_uc010hae.2_Nonsense_Mutation_p.C153*	p.C351*	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	10	1160	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	351					A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Nonsense_Mutation	SNP	ENST00000216264.8	37	c.1053C>A	CCDS14077.1	.	.	.	.	.	.	.	.	.	.	g	25.6	4.652903	0.88056	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	.	.	.	5.2	2.01	0.26516	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4518	7.7939	0.29135	0.3348:0.0:0.6652:0.0	.	.	.	.	X	351;153	.	ENSP00000216264:C351X	C	-	3	2	CERK	45468061	0.991000	0.36638	0.941000	0.38009	0.067000	0.16453	0.686000	0.25392	0.572000	0.29383	0.650000	0.86243	TGC		PASS	0.433	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		31	104	31	104	---	---	---	---
P2RY8	286530	broad.mit.edu	37	X	1584630	1584630	+	Silent	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chrX:1584630C>A	ENST00000381297.4	-	2	1032	c.822G>T	c.(820-822)gtG>gtT	p.V274V	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.V274V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGAGCTTGTACACGTGGTAGT	0.557			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	uc004cpz.2				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		B-ALL|Downs associated ALL		1	Substitution - coding silent(1)		lung(1)	lung(5)	5						c.(820-822)GTG>GTT		G-protein coupled purinergic receptor P2Y8							110.0	107.0	108.0					X																	1584630		2203	4296	6499	SO:0001819	synonymous_variant	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584630C>A	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.822G>T	X.37:g.1584630C>A							p.V274V	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN			2	1070	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	274			Extracellular (Potential).			Silent	SNP	ENST00000381297.4	37	c.822G>T	CCDS14115.1																																																																																				PASS	0.557	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		15	92	15	92	---	---	---	---
STS	412	broad.mit.edu	37	X	7177621	7177621	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chrX:7177621A>G	ENST00000217961.4	+	5	849	c.629A>G	c.(628-630)cAc>cGc	p.H210R		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	210					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)	p.H210R(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	GGGCTACTCCACGTGCCTCTA	0.557									Ichthyosis																													uc004cry.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(628-630)CAC>CGC		steryl-sulfatase precursor	Estrone(DB00655)						109.0	78.0	89.0					X																	7177621		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7177621A>G	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.629A>G	X.37:g.7177621A>G	ENSP00000217961:p.His210Arg						p.H210R	NM_000351	NP_000342	P08842	STS_HUMAN			5	874	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	210			Cytoplasmic.		B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.629A>G	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	A	0.960	-0.703449	0.03255	.	.	ENSG00000101846	ENST00000217961	D	0.93247	-3.19	3.96	-4.26	0.03755	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	2.611370	0.02135	N	0.056675	T	0.78240	0.4252	N	0.00996	-1.065	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.75516	-0.3290	10	0.12766	T	0.61	.	7.793	0.29131	0.5566:0.1137:0.3297:0.0	.	210	P08842	STS_HUMAN	R	210	ENSP00000217961:H210R	ENSP00000217961:H210R	H	+	2	0	STS	7187621	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.612000	0.02061	-2.129000	0.00817	-1.030000	0.02411	CAC		PASS	0.557	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		22	51	22	51	---	---	---	---
ZNF182	7569	broad.mit.edu	37	X	47836919	47836919	+	Silent	SNP	T	T	C			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chrX:47836919T>C	ENST00000396965.1	-	7	917	c.567A>G	c.(565-567)aaA>aaG	p.K189K	ZNF182_ENST00000376943.3_Silent_p.K170K|ZNF182_ENST00000305127.6_Silent_p.K189K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K189K(1)|p.K170K(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						GGAAGAACAATTTTGCACATC	0.353																																						uc004dir.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(1)	3						c.(565-567)AAA>AAG		zinc finger protein 21 isoform 1							65.0	57.0	60.0					X																	47836919		2203	4299	6502	SO:0001819	synonymous_variant	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47836919T>C	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.567A>G	X.37:g.47836919T>C						ZNF182_uc004dis.2_Silent_p.K170K|ZNF182_uc004dit.2_Silent_p.K189K|ZNF182_uc011mlu.1_Silent_p.K169K	p.K189K	NM_006962	NP_008893	P17025	ZN182_HUMAN			7	913	-			189					A2IDD7|Q3KP67|Q96QH7	Silent	SNP	ENST00000396965.1	37	c.567A>G	CCDS35236.1																																																																																				PASS	0.353	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		25	50	25	50	---	---	---	---
IQSEC2	23096	broad.mit.edu	37	X	53279921	53279921	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chrX:53279921C>A	ENST00000375368.5	-	4	2007	c.1807G>T	c.(1807-1809)Ggc>Tgc	p.G603C	IQSEC2_ENST00000375365.2_Missense_Mutation_p.G408C|IQSEC2_ENST00000396435.3_Missense_Mutation_p.G613C			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	603	Pro-rich.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.G613C(1)|p.G610C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TGGACAGAGCCGCGATCTGAG	0.662																																						uc004dsd.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1837-1839)GGC>TGC		IQ motif and Sec7 domain 2 isoform1							18.0	18.0	18.0					X																	53279921		2199	4295	6494	SO:0001583	missense	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53279921C>A	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.1807G>T	X.37:g.53279921C>A	ENSP00000364517:p.Gly603Cys					IQSEC2_uc004dsc.2_Missense_Mutation_p.G408C	p.G613C	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN			5	2038	-			603			Pro-rich.		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37	c.1837G>T		.	.	.	.	.	.	.	.	.	.	c	21.7	4.186597	0.78789	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.20332	2.09;2.08;2.29	5.37	5.37	0.77165	.	0.239325	0.32301	N	0.006294	T	0.41558	0.1164	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.23119	-1.0197	10	0.66056	D	0.02	.	16.8728	0.86044	0.0:1.0:0.0:0.0	.	613;408	Q5JU85-2;Q5JU85-3	.;.	C	613;603;408	ENSP00000379712:G613C;ENSP00000364517:G603C;ENSP00000364514:G408C	ENSP00000364514:G408C	G	-	1	0	IQSEC2	53296646	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.897000	0.63231	2.246000	0.74042	0.597000	0.82753	GGC		PASS	0.662	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		9	5	9	5	---	---	---	---
ARHGEF9	23229	broad.mit.edu	37	X	62917183	62917183	+	Splice_Site	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chrX:62917183C>T	ENST00000253401.6	-	4	1183	c.383G>A	c.(382-384)gGc>gAc	p.G128D	ARHGEF9_ENST00000437457.2_Splice_Site_p.G75D|ARHGEF9_ENST00000374878.1_Splice_Site_p.G126D|ARHGEF9_ENST00000374872.1_Splice_Site_p.G107D|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374870.4_Splice_Site_p.G26D	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	128	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G126D(1)|p.G128D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTTCAGATAGCCCTGTAGACA	0.458																																						uc004dvl.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8						c.(382-384)GGC>GAC		Cdc42 guanine exchange factor 9							65.0	57.0	59.0					X																	62917183		2203	4299	6502	SO:0001630	splice_region_variant	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62917183C>T	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.382-1G>A	X.37:g.62917183C>T						ARHGEF9_uc004dvj.1_Missense_Mutation_p.G17D|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc011mos.1_Missense_Mutation_p.G107D|ARHGEF9_uc004dvm.1_Missense_Mutation_p.G107D|ARHGEF9_uc011mot.1_Missense_Mutation_p.G75D|ARHGEF9_uc004dvn.2_Missense_Mutation_p.G135D	p.G128D	NM_015185	NP_056000	O43307	ARHG9_HUMAN			4	1222	-			128			DH.		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.383G>A	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480464	0.84747	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.59	5.59	0.84812	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.80444	0.4624	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.79451	-0.1798	10	0.39692	T	0.17	.	17.019	0.86428	0.0:1.0:0.0:0.0	.	75;126;128	B4DHC7;B1AMR4;O43307	.;.;ARHG9_HUMAN	D	128;126;75;26;107	ENSP00000253401:G128D;ENSP00000364012:G126D;ENSP00000399994:G75D;ENSP00000364004:G26D;ENSP00000364006:G107D	ENSP00000253401:G128D	G	-	2	0	ARHGEF9	62833908	1.000000	0.71417	0.946000	0.38457	0.887000	0.51463	7.296000	0.78790	2.333000	0.79357	0.513000	0.50165	GGC		PASS	0.458	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1		Missense_Mutation	14	24	14	24	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73042638	73042638	+	lincRNA	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chrX:73042638C>A	ENST00000604411.1	+	0	30599				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		AAAGCCCTCTCTTATTCCCAC	0.343																																						uc004ebn.2																			0					0								Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.							55.0	57.0	57.0					X																	73042638		875	1991	2866			9383							g.chrX:73042638C>A			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73042638C>A						XIST_uc004ebm.1_RNA		NR_003255						1		+									RNA	SNP	ENST00000604411.1	37	c.30599C>A																																																																																					PASS	0.343	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		5	44	5	44	---	---	---	---
UPRT	139596	broad.mit.edu	37	X	74516241	74516241	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chrX:74516241C>T	ENST00000373383.4	+	3	661	c.494C>T	c.(493-495)cCa>cTa	p.P165L	UPRT_ENST00000373379.1_Missense_Mutation_p.P165L|UPRT_ENST00000531704.1_3'UTR|UPRT_ENST00000530743.1_Missense_Mutation_p.P29L	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	165					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P165L(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						GTGACCACTCCAACAGGTAAC	0.383																																						uc004ecb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(493-495)CCA>CTA		uracil phosphoribosyltransferase (FUR1) homolog							114.0	100.0	105.0					X																	74516241		2203	4300	6503	SO:0001583	missense	139596				nucleoside metabolic process	cytoplasm|nucleus		g.chrX:74516241C>T	BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.494C>T	X.37:g.74516241C>T	ENSP00000362481:p.Pro165Leu					UPRT_uc010nlu.1_Missense_Mutation_p.P165L|UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Missense_Mutation_p.P165L|UPRT_uc004ece.1_Missense_Mutation_p.P29L	p.P165L	NM_145052	NP_659489	Q96BW1	UPP_HUMAN			3	623	+			165					Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Missense_Mutation	SNP	ENST00000373383.4	37	c.494C>T	CCDS14429.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063737	0.76187	.	.	ENSG00000094841	ENST00000373383;ENST00000373379;ENST00000530743	D;D;D	0.93019	-3.15;-3.15;-3.15	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.98040	0.9354	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99741	1.1015	10	0.87932	D	0	-9.9472	17.0521	0.86521	0.0:1.0:0.0:0.0	.	165;165	A8KAF9;Q96BW1	.;UPP_HUMAN	L	165;165;29	ENSP00000362481:P165L;ENSP00000362477:P165L;ENSP00000434037:P29L	ENSP00000362477:P165L	P	+	2	0	UPRT	74432966	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.463000	0.80869	2.235000	0.73313	0.529000	0.55759	CCA		PASS	0.383	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057278.1	NM_145052		14	76	14	76	---	---	---	---
XIAP	331	broad.mit.edu	37	X	123019959	123019959	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chrX:123019959A>G	ENST00000371199.3	+	2	746	c.447A>G	c.(445-447)atA>atG	p.I149M	XIAP_ENST00000468691.1_Intron|XIAP_ENST00000355640.3_Missense_Mutation_p.I149M|XIAP_ENST00000434753.3_Missense_Mutation_p.I149M	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	149	Interaction with caspase-7.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I149M(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						TTGTAGATATATCAGACACCA	0.443									X-linked Lymphoproliferative syndrome																													uc010nqu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(445-447)ATA>ATG		baculoviral IAP repeat-containing protein 4							93.0	90.0	91.0					X																	123019959		2203	4300	6503	SO:0001583	missense	331	X-linked_Lymphoproliferative_syndrome	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	g.chrX:123019959A>G	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.447A>G	X.37:g.123019959A>G	ENSP00000360242:p.Ile149Met					XIAP_uc004etx.2_Missense_Mutation_p.I149M|XIAP_uc010nqv.2_Intron	p.I149M	NM_001167	NP_001158	P98170	XIAP_HUMAN			2	573	+			149	I->A: Reduced inhibition of caspase-3.		Interaction with caspase-7.		D3DTF2|Q9NQ14	Missense_Mutation	SNP	ENST00000371199.3	37	c.447A>G	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	A	0.741	-0.776397	0.02951	.	.	ENSG00000101966	ENST00000434753;ENST00000430625;ENST00000371199;ENST00000355640	T;T;T;T	0.72167	-0.63;0.39;-0.63;-0.63	5.74	-4.0	0.04057	Baculoviral inhibition of apoptosis protein repeat (1);	0.450566	0.23949	N	0.042964	T	0.32704	0.0838	N	0.03050	-0.425	0.25046	N	0.991164	B	0.02656	0.0	B	0.01281	0.0	T	0.25433	-1.0132	9	.	.	.	-1.9048	3.1838	0.06593	0.2396:0.2069:0.4216:0.1319	.	149	P98170	XIAP_HUMAN	M	149	ENSP00000395230:I149M;ENSP00000400637:I149M;ENSP00000360242:I149M;ENSP00000347858:I149M	.	I	+	3	3	XIAP	122847640	0.964000	0.33143	0.980000	0.43619	0.996000	0.88848	-0.039000	0.12124	-0.757000	0.04697	0.413000	0.27773	ATA		PASS	0.443	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		41	97	41	97	---	---	---	---
ENOX2	10495	broad.mit.edu	37	X	129804102	129804102	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chrX:129804102C>A	ENST00000370927.1	-	5	639	c.618G>T	c.(616-618)caG>caT	p.Q206H	ENOX2_ENST00000394363.1_Missense_Mutation_p.Q177H|ENOX2_ENST00000338144.3_Missense_Mutation_p.Q206H|ENOX2_ENST00000370935.1_Missense_Mutation_p.Q177H			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	206	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)	p.Q206H(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CATCTCGAGCCTGTGCGAAAT	0.522																																					Ovarian(101;828 1506 2951 9500 35258)	uc004evw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(616-618)CAG>CAT		ecto-NOX disulfide-thiol exchanger 2 isoform b							145.0	107.0	120.0					X																	129804102		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129804102C>A	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.618G>T	X.37:g.129804102C>A	ENSP00000359965:p.Gln206His					ENOX2_uc004evx.2_Missense_Mutation_p.Q177H|ENOX2_uc004evy.2_Missense_Mutation_p.Q177H|ENOX2_uc004evv.2_Missense_Mutation_p.Q33H	p.Q206H	NM_182314	NP_872114	Q16206	ENOX2_HUMAN			8	1036	-			206			RRM.		A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.618G>T	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268085	0.59540	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86	5.21	2.52	0.30459	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.77598	0.4154	L	0.51422	1.61	0.49915	D	0.999839	D;D	0.69078	0.997;0.997	D;D	0.66979	0.948;0.948	T	0.72600	-0.4244	9	.	.	.	-12.5293	6.5613	0.22487	0.0:0.6036:0.0:0.3964	.	206;234	Q16206;A4QPE1	ENOX2_HUMAN;.	H	177;177;206;177;234;206;177	ENSP00000359973:Q177H;ENSP00000337146:Q206H;ENSP00000377890:Q177H;ENSP00000359965:Q206H;ENSP00000400304:Q177H	.	Q	-	3	2	ENOX2	129631783	0.997000	0.39634	1.000000	0.80357	0.981000	0.71138	0.516000	0.22817	0.214000	0.20742	-0.191000	0.12829	CAG		PASS	0.522	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		20	47	20	47	---	---	---	---
ATP11C	286410	broad.mit.edu	37	X	138908947	138908947	+	Silent	SNP	T	T	A			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chrX:138908947T>A	ENST00000327569.3	-	2	170	c.72A>T	c.(70-72)acA>acT	p.T24T	ATP11C_ENST00000359686.2_Silent_p.T24T|ATP11C_ENST00000370543.1_Silent_p.T24T|ATP11C_ENST00000370557.1_Silent_p.T21T|ATP11C_ENST00000361648.2_Silent_p.T24T	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	24					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.T24T(2)|p.T24fs*21(1)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CAACAAACACTGTGCGTGTGC	0.388																																						uc004faz.2																			3	Substitution - coding silent(2)|Deletion - Frameshift(1)		lung(3)	ovary(5)|large_intestine(3)	8						c.(70-72)ACA>ACT		ATPase, class VI, type 11C isoform a							142.0	118.0	126.0					X																	138908947		2203	4300	6503	SO:0001819	synonymous_variant	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138908947T>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.72A>T	X.37:g.138908947T>A						ATP11C_uc004fba.2_Silent_p.T24T	p.T24T	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			2	171	-	Acute lymphoblastic leukemia(192;0.000127)		24			Cytoplasmic (Potential).		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	c.72A>T	CCDS14668.1																																																																																				PASS	0.388	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		29	53	29	53	---	---	---	---
AMELY	266	broad.mit.edu	37	Y	6738083	6738083	+	Missense_Mutation	SNP	A	A	T			TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chrY:6738083A>T	ENST00000383036.1	-	2	65	c.66T>A	c.(64-66)caT>caA	p.H22Q	AMELY_ENST00000215479.5_Missense_Mutation_p.H22Q|AMELY_ENST00000383037.4_Missense_Mutation_p.H22Q			Q99218	AMELY_HUMAN	amelogenin, Y-linked	22					biomineral tissue development (GO:0031214)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	structural constituent of tooth enamel (GO:0030345)	p.H22Q(1)		NS(1)|lung(5)	6						GGTGCCCAGGATGAGGTGGTA	0.438																																						uc004fra.1																			1	Substitution - Missense(1)		lung(1)		0						c.(64-66)CAT>CAA		amelogenin, Y-linked precursor																																				SO:0001583	missense	266				biomineral tissue development	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chrY:6738083A>T	M86933	CCDS14778.1	Yp11.2	2004-12-07	2003-09-12		ENSG00000099721	ENSG00000099721			462	protein-coding gene	gene with protein product		410000	"""amelogenin (Y chromosome)"""	AMGL		2004775	Standard	NM_001143		Approved		uc004fqz.3	Q99218	OTTHUMG00000035297	ENST00000383036.1:c.66T>A	Y.37:g.6738083A>T	ENSP00000372505:p.His22Gln					AMELY_uc004fqz.2_Missense_Mutation_p.H22Q	p.H22Q	NM_001143	NP_001134	Q99218	AMELY_HUMAN			2	78	-			22					Q6RWT1	Missense_Mutation	SNP	ENST00000383036.1	37	c.66T>A	CCDS14778.1	.	.	.	.	.	.	.	.	.	.	.	10.56	1.385784	0.25031	.	.	ENSG00000099721	ENST00000383036;ENST00000383037	D;D	0.92099	-2.97;-2.97	1.57	1.57	0.23409	.	0.000000	0.52532	D	0.000075	D	0.93093	0.7801	M	0.72479	2.2	0.26665	N	0.971839	D;D	0.71674	0.987;0.998	D;P	0.75020	0.985;0.905	D	0.92216	0.5780	7	.	.	.	-7.8668	.	.	.	.	22;22	Q99218;Q99218-1	AMELY_HUMAN;.	Q	22	ENSP00000372505:H22Q;ENSP00000372506:H22Q	.	H	-	3	2	AMELY	6798083	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	2.955000	0.49121	0.984000	0.38629	0.155000	0.16302	CAT		PASS	0.438	AMELY-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000100214.1	NM_001143		18	171	18	171	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763|rs144216147	byFrequency	TCGA-22-1002-01A-01D-1521-08	TCGA-22-1002-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7c7604fe-8321-46cb-ac34-0e7994b8853b	0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)ggctgtggadel	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713																																						uc001lty.2																			0				lung(1)	1						c.(121-129)GGCTGTGGAdel		keratin associated protein 5-5				727,2515		74,579,968						1.8	0.6		dbSNP_130	24	1587,5219		143,1301,1959	no	coding	KRTAP5-5	NM_001001480.2		217,1880,2927	A1A1,A1R,RR		23.3177,22.4244,23.0295				2314,7734				SO:0001651	inframe_deletion	439915					keratin filament		g.chr11:1651191_1651199delGGCTGTGGA	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.121_129delGGCTGTGGA	11.37:g.1651191_1651199delGGCTGTGGA	ENSP00000382584:p.Gly47_Gly49del						p.GCG47del	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	159_167	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	47_49					A8MWN2	In_Frame_Del	DEL	ENST00000399676.2	37	c.121_129delGGCTGTGGA	CCDS41592.1																																																																																					0.713	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			18	17	18	17	---	---	---	---
