#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_default_gene_name	i_deletion_substructures	i_domain	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ABCA8	10351	genome.wustl.edu	37	17	66873731	66873731	+	Silent	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr17:66873731C>G	ENST00000269080.2	-	31	4145	c.4008G>C	c.(4006-4008)gtG>gtC	p.V1336V	ABCA8_ENST00000430352.2_Silent_p.V1376V|ABCA8_ENST00000586539.1_Silent_p.V1376V	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1336	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGTGCTGCCTCACTGTCAGGT	0.592																																																	0													153.0	132.0	139.0					17																	66873731		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4008G>C	17.37:g.66873731C>G			A1L3U3|C9JQE6|Q86WW0	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V1376	ENST00000269080.2	37	c.4128	CCDS11680.1	17																																																																																			ABCA8	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000141338		0.592	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	-	0.00	102	0	C	NM_007168		66873731	-1	tier1	-	no_errors	ENST00000430352	ensembl	human	known	74_37	silent	47.31	49	44	SNP	0.997	G
ABCC12	94160	genome.wustl.edu	37	16	48180286	48180286	+	Missense_Mutation	SNP	C	C	A	rs372957171		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:48180286C>A	ENST00000311303.3	-	1	395	c.50G>T	c.(49-51)cGg>cTg	p.R17L	ABCC12_ENST00000448542.1_Missense_Mutation_p.R17L|ABCC12_ENST00000416054.1_Missense_Mutation_p.R17L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	17						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GGATCTCCGCCGGCCTCGCTG	0.577																																																	0													130.0	114.0	120.0					16																	48180286		2201	4300	6501	SO:0001583	missense	0			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.50G>T	16.37:g.48180286C>A	ENSP00000311030:p.Arg17Leu		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.R17L	ENST00000311303.3	37	c.50	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138052	0.37728	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054;ENST00000527640	D;D;D;D	0.92805	-2.84;-3.04;-3.11;-2.52	5.55	-4.75	0.03239	.	1.887800	0.02024	N	0.048026	D	0.84379	0.5459	L	0.38175	1.15	0.09310	N	1	P;B	0.37141	0.584;0.045	B;B	0.28916	0.096;0.039	T	0.75822	-0.3182	10	0.29301	T	0.29	.	7.0137	0.24877	0.0:0.4116:0.2417:0.3468	.	17;17	Q96J65-2;Q96J65	.;MRP9_HUMAN	L	17	ENSP00000311030:R17L;ENSP00000401855:R17L;ENSP00000413046:R17L;ENSP00000436647:R17L	ENSP00000311030:R17L	R	-	2	0	ABCC12	46737787	0.000000	0.05858	0.009000	0.14445	0.764000	0.43329	-0.499000	0.06413	-0.841000	0.04200	-0.320000	0.08662	CGG	ABCC12	-	NULL	ENSG00000140798		0.577	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	-	0.00	52	0	C	NM_033226		48180286	-1	tier1	-	no_errors	ENST00000311303	ensembl	human	known	74_37	missense	44.07	33	26	SNP	0.000	A
ABCC11	85320	genome.wustl.edu	37	16	48261862	48261862	+	Missense_Mutation	SNP	G	G	T	rs372557069		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:48261862G>T	ENST00000394747.1	-	3	599	c.250C>A	c.(250-252)Cag>Aag	p.Q84K	ABCC11_ENST00000394748.1_Missense_Mutation_p.Q84K|ABCC11_ENST00000356608.2_Missense_Mutation_p.Q84K|ABCC11_ENST00000353782.5_Missense_Mutation_p.Q84K|ABCC11_ENST00000537808.1_Missense_Mutation_p.Q84K	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	84					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TCCAGGGGCTGGGGGGCAGGA	0.493																																																	0													61.0	62.0	62.0					16																	48261862		2200	4300	6500	SO:0001583	missense	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.250C>A	16.37:g.48261862G>T	ENSP00000378230:p.Gln84Lys		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.Q84K	ENST00000394747.1	37	c.250	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695944	0.30052	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.53	-1.5	0.08691	.	0.401000	0.25925	N	0.027401	T	0.34483	0.0899	L	0.47716	1.5	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.06405	0.002;0.002	T	0.37244	-0.9714	10	0.44086	T	0.13	-0.9363	15.5421	0.76062	0.0:0.0:0.2515:0.7485	.	84;84	Q96J66-2;Q96J66	.;ABCCB_HUMAN	K	84	ENSP00000311326:Q84K;ENSP00000349017:Q84K;ENSP00000378231:Q84K;ENSP00000378230:Q84K;ENSP00000438530:Q84K	ENSP00000311326:Q84K	Q	-	1	0	ABCC11	46819363	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.131000	0.10482	-0.156000	0.11079	-1.194000	0.01681	CAG	ABCC11	-	NULL	ENSG00000121270		0.493	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1		0.00	39	0	G	NM_032583		48261862	-1			no_errors	ENST00000356608	ensembl	human	known	74_37	missense	9.09	30	3	SNP	0.000	T
ACVR1B	91	genome.wustl.edu	37	12	52380769	52380769	+	Intron	SNP	A	A	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:52380769A>T	ENST00000257963.4	+	7	1338				ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000541224.1_Intron|ACVR1B_ENST00000415850.2_Missense_Mutation_p.D435V|ACVR1B_ENST00000426655.2_Intron|ACVR1B_ENST00000542485.1_Intron|RNU6-574P_ENST00000384265.1_RNA	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB						activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CCATTCCAGGATGCTGGATCA	0.458																																																	0													147.0	143.0	144.0					12																	52380769		2203	4300	6503	SO:0001627	intron_variant	0				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1261+43A>T	12.37:g.52380769A>T			B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D435V	ENST00000257963.4	37	c.1304	CCDS8816.1	12	.	.	.	.	.	.	.	.	.	.	A	9.833	1.188821	0.21954	.	.	ENSG00000135503	ENST00000415850	D	0.84589	-1.87	3.85	-3.79	0.04320	.	.	.	.	.	T	0.68686	0.3028	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50717	-0.8795	7	.	.	.	.	4.6539	0.12608	0.3815:0.0:0.4508:0.1676	.	435	P36896-3	.	V	435	ENSP00000397550:D435V	.	D	+	2	0	ACVR1B	50667036	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.104000	0.10923	-1.042000	0.03262	-0.468000	0.05107	GAT	ACVR1B	-	smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000135503		0.458	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1B	HGNC	protein_coding	OTTHUMT00000397000.1	-	0.00	66	0	A	NM_020328		52380769	+1	tier1	-	no_errors	ENST00000415850	ensembl	human	known	74_37	missense	56.94	31	41	SNP	0.000	T
ADCY7	113	genome.wustl.edu	37	16	50334758	50334758	+	Silent	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:50334758C>T	ENST00000394697.2	+	9	1549	c.1209C>T	c.(1207-1209)aaC>aaT	p.N403N	ADCY7_ENST00000537579.1_Silent_p.N403N|ADCY7_ENST00000538642.1_Silent_p.N403N|ADCY7_ENST00000566433.2_Silent_p.N403N|ADCY7_ENST00000254235.3_Silent_p.N403N			P51828	ADCY7_HUMAN	adenylate cyclase 7	403	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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 ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CCCTGGCCAACCGGATGGAGG	0.667																																																	0													99.0	79.0	86.0					16																	50334758		2170	4243	6413	SO:0001819	synonymous_variant	0			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1209C>T	16.37:g.50334758C>T			A0AVA6	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.N403	ENST00000394697.2	37	c.1209	CCDS10741.1	16																																																																																			ADCY7	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000121281		0.667	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3	-	0.00	66	0	C			50334758	+1	tier1	-	no_errors	ENST00000254235	ensembl	human	known	74_37	silent	9.30	39	4	SNP	1.000	T
AFF3	3899	genome.wustl.edu	37	2	100210147	100210147	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:100210147A>G	ENST00000409236.2	-	13	2088	c.1976T>C	c.(1975-1977)gTc>gCc	p.V659A	AFF3_ENST00000317233.4_Missense_Mutation_p.V659A|AFF3_ENST00000409579.1_Missense_Mutation_p.V684A|AFF3_ENST00000356421.2_Missense_Mutation_p.V684A			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	659					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGATTTGGGGACGATCCTGCT	0.602																																																	0													71.0	76.0	74.0					2																	100210147		2203	4300	6503	SO:0001583	missense	0			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1976T>C	2.37:g.100210147A>G	ENSP00000387207:p.Val659Ala		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.V684A	ENST00000409236.2	37	c.2051	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	A	13.45	2.240147	0.39598	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.17	4.03	0.46877	.	0.982641	0.08286	N	0.969155	T	0.37404	0.1002	N	0.14661	0.345	0.37358	D	0.911086	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.12837	0.008;0.003;0.001	T	0.47433	-0.9118	10	0.06099	T	0.92	.	3.1267	0.06409	0.6111:0.0:0.3889:0.0	.	812;659;684	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	A	659;684;684;659;659;812;684	ENSP00000317421:V659A;ENSP00000348793:V684A;ENSP00000386834:V684A;ENSP00000387207:V659A	ENSP00000317421:V659A	V	-	2	0	AFF3	99576579	0.000000	0.05858	0.999000	0.59377	0.983000	0.72400	0.147000	0.16202	1.964000	0.57103	0.459000	0.35465	GTC	AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.602	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	-	0.00	36	0	A	NM_002285		100210147	-1	tier1	-	no_errors	ENST00000356421	ensembl	human	known	74_37	missense	31.43	24	11	SNP	0.993	G
ALG6	29929	genome.wustl.edu	37	1	63894627	63894629	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:63894627_63894629delCTC	ENST00000371108.4	+	14	1461_1463	c.1156_1158delCTC	c.(1156-1158)ctcdel	p.L387del	ALG6_ENST00000263440.4_In_Frame_Del_p.L389del|ALG6_ENST00000494765.1_3'UTR	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	387					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GAAGGATGAACTCCTAATGCCCT	0.31																																																	0																																										SO:0001651	inframe_deletion	0			AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.1156_1158delCTC	1.37:g.63894627_63894629delCTC	ENSP00000360149:p.Leu387del		B3KMU2|Q5SXR9|Q9H3I0	In_Frame_Del	DEL	pfam_Glyco_trans_ALG6/ALG8	p.L387in_frame_del	ENST00000371108.4	37	c.1156_1158	CCDS30735.1	1																																																																																			ALG6	-	pfam_Glyco_trans_ALG6/ALG8	ENSG00000088035		0.310	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	ALG6	HGNC	protein_coding	OTTHUMT00000025330.2		0.00	8	0	CTC	NM_013339		63894629	+1	tier1		no_errors	ENST00000371108	ensembl	human	known	74_37	in_frame_del	33.33	16	8	DEL	0.938:0.946:0.826	-
AMOT	154796	genome.wustl.edu	37	X	112065833	112065833	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chrX:112065833C>G	ENST00000524145.1	-	2	596	c.522G>C	c.(520-522)ttG>ttC	p.L174F	AMOT_ENST00000371959.3_Missense_Mutation_p.L174F|AMOT_ENST00000371958.1_5'Flank|AMOT_ENST00000371962.1_5'Flank|AMOT_ENST00000304758.1_Intron|AMOT_ENST00000462114.1_5'Flank			Q4VCS5	AMOT_HUMAN	angiomotin	174					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GTCGTTCACTCAAGGAACGGA	0.547																																																	0													264.0	191.0	213.0					X																	112065833		692	1591	2283	SO:0001583	missense	0			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.522G>C	X.37:g.112065833C>G	ENSP00000429013:p.Leu174Phe		Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.L174F	ENST00000524145.1	37	c.522	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796188	0.50208	.	.	ENSG00000126016	ENST00000371959;ENST00000524145	T;T	0.21031	2.03;2.03	5.8	1.57	0.23409	.	0.000000	0.64402	D	0.000001	T	0.40347	0.1113	M	0.79926	2.475	0.46167	D	0.998908	D	0.76494	0.999	D	0.77004	0.989	T	0.15954	-1.0419	9	.	.	.	-5.8246	5.1394	0.14952	0.0:0.4949:0.2476:0.2575	.	174	Q4VCS5	AMOT_HUMAN	F	174	ENSP00000361027:L174F;ENSP00000429013:L174F	.	L	-	3	2	AMOT	111952489	0.317000	0.24589	1.000000	0.80357	0.996000	0.88848	-0.318000	0.08050	0.558000	0.29135	0.600000	0.82982	TTG	AMOT	-	NULL	ENSG00000126016		0.547	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1		0.00	17	0	C	NM_133265		112065833	-1			no_errors	ENST00000371959	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.999	G
ANKRD13C	81573	genome.wustl.edu	37	1	70819708	70819708	+	Silent	SNP	G	G	C			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:70819708G>C	ENST00000370944.4	-	1	697	c.384C>G	c.(382-384)ctC>ctG	p.L128L	HHLA3_ENST00000432224.1_5'Flank|HHLA3_ENST00000531950.1_5'Flank|HHLA3_ENST00000359875.5_5'Flank|HHLA3_ENST00000370940.5_5'Flank|HHLA3_ENST00000361764.4_5'Flank|ANKRD13C_ENST00000262346.6_Silent_p.L128L	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	128					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TGAGAGAGGAGAGTCTCCTCA	0.617																																																	0													60.0	56.0	58.0					1																	70819708		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.384C>G	1.37:g.70819708G>C			B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Silent	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L128	ENST00000370944.4	37	c.384	CCDS648.2	1																																																																																			ANKRD13C	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000118454		0.617	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD13C	HGNC	protein_coding	OTTHUMT00000025903.1	-	0.00	53	0	G	NM_030816		70819708	-1	tier1	-	no_errors	ENST00000370944	ensembl	human	known	74_37	silent	18.64	48	11	SNP	0.986	C
ANKRD17	26057	genome.wustl.edu	37	4	74027042	74027042	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:74027042C>T	ENST00000358602.4	-	3	687	c.571G>A	c.(571-573)Gat>Aat	p.D191N	ANKRD17_ENST00000330838.6_Missense_Mutation_p.D191N|ANKRD17_ENST00000509867.2_Missense_Mutation_p.D78N	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	191					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTTTACCATCAGCCGTGGAC	0.413																																																	0													115.0	105.0	109.0					4																	74027042		2203	4300	6503	SO:0001583	missense	0			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.571G>A	4.37:g.74027042C>T	ENSP00000351416:p.Asp191Asn		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.D191N	ENST00000358602.4	37	c.571	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524542	0.85600	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.68479	-0.31;-0.2;-0.33	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000003	T	0.74913	0.3779	L	0.46157	1.445	0.39935	D	0.974338	P;D;D;P	0.56968	0.894;0.978;0.962;0.668	P;P;P;B	0.58077	0.675;0.832;0.767;0.379	T	0.75096	-0.3438	10	0.45353	T	0.12	.	19.4722	0.94967	0.0:1.0:0.0:0.0	.	191;191;191;78	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	N	191;191;191;78;191	ENSP00000351416:D191N;ENSP00000332265:D191N;ENSP00000427151:D78N	ENSP00000332265:D191N	D	-	1	0	ANKRD17	74245906	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.803000	0.85983	2.614000	0.88457	0.591000	0.81541	GAT	ANKRD17	-	NULL	ENSG00000132466		0.413	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	HGNC	protein_coding	OTTHUMT00000362475.1	-	0.00	39	0	C	NM_032217		74027042	-1	tier1	-	no_errors	ENST00000358602	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
ANKRD30B	374860	genome.wustl.edu	37	18	14763720	14763720	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr18:14763720C>T	ENST00000358984.4	+	7	1036	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.P286S	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	286								p.P286S(1)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TGAGGCTGCACCCTTGGCGGA	0.478																																																	1	Substitution - Missense(1)	NS(1)											29.0	29.0	29.0					18																	14763720		692	1591	2283	SO:0001583	missense	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.856C>T	18.37:g.14763720C>T	ENSP00000351875:p.Pro286Ser		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P286S	ENST00000358984.4	37	c.856	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	N	4.203	0.036358	0.08148	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.31769	1.53;1.48	0.235	0.235	0.15431	.	.	.	.	.	T	0.13329	0.0323	N	0.24115	0.695	0.09310	N	1	P	0.50710	0.938	B	0.34722	0.188	T	0.19353	-1.0308	8	0.16896	T	0.51	.	.	.	.	.	286	F8WAG3	.	S	286	ENSP00000351875:P286S;ENSP00000399031:P286S	ENSP00000351875:P286S	P	+	1	0	ANKRD30B	14753720	0.024000	0.19004	0.006000	0.13384	0.006000	0.05464	0.260000	0.18424	0.308000	0.22923	0.313000	0.20887	CCC	ANKRD30B	-	NULL	ENSG00000180777		0.478	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	-	0.00	73	0	C	NM_001145029		14763720	+1	tier1	-	no_errors	ENST00000358984	ensembl	human	known	74_37	missense	33.90	37	20	SNP	0.006	T
ANO2	57101	genome.wustl.edu	37	12	5842179	5842179	+	Intron	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:5842179C>T	ENST00000356134.5	-	15	1497				ANO2_ENST00000538154.1_Intron|ANO2_ENST00000546188.1_Intron|ANO2_ENST00000327087.8_Intron	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel						chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CAACTATCGTCAGACCTCAAA	0.512																																																	0																																										SO:0001627	intron_variant	0			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1426-136G>A	12.37:g.5842179C>T			C4N787|Q9H847	RNA	SNP	-	NULL	ENST00000356134.5	37	NULL		12																																																																																			ANO2	-	-	ENSG00000047617		0.512	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	-	0.00	21	0	C	NM_020373		5842179	-1	tier1	-	no_errors	ENST00000542326	ensembl	human	putative	74_37	rna	21.33	293	80	SNP	0.000	T
ANO2	57101	genome.wustl.edu	37	12	5842200	5842200	+	Intron	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:5842200C>T	ENST00000356134.5	-	15	1497				ANO2_ENST00000538154.1_Intron|ANO2_ENST00000546188.1_Intron|ANO2_ENST00000327087.8_Intron	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel						chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTTTAACTTTCAACAAGCCAA	0.507																																																	0																																										SO:0001627	intron_variant	0			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1426-157G>A	12.37:g.5842200C>T			C4N787|Q9H847	RNA	SNP	-	NULL	ENST00000356134.5	37	NULL		12																																																																																			ANO2	-	-	ENSG00000047617		0.507	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	-	0.00	18	0	C	NM_020373		5842200	-1	tier1	-	no_errors	ENST00000542326	ensembl	human	putative	74_37	rna	19.86	222	55	SNP	0.000	T
APEH	327	genome.wustl.edu	37	3	49714115	49714115	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:49714115G>T	ENST00000296456.5	+	8	1218	c.818G>T	c.(817-819)cGc>cTc	p.R273L	APEH_ENST00000438011.1_Missense_Mutation_p.R273L	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	273					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTGGGCATCCGCTTTTGCACC	0.597																																																	0													142.0	132.0	136.0					3																	49714115		2203	4300	6503	SO:0001583	missense	0			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.818G>T	3.37:g.49714115G>T	ENSP00000296456:p.Arg273Leu		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_AB_hydrolase_1,pfam_Dienelactn_hydro	p.R273L	ENST00000296456.5	37	c.818	CCDS2801.1	3	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996091	0.35226	.	.	ENSG00000164062	ENST00000296456;ENST00000449966;ENST00000442186;ENST00000438011;ENST00000457042	T;T;T;T;T	0.39787	1.18;1.18;1.06;1.18;1.18	5.62	5.62	0.85841	Six-bladed beta-propeller, TolB-like (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.054049	0.85682	D	0.000000	T	0.35038	0.0918	L	0.46157	1.445	0.43489	D	0.995721	B;B	0.27498	0.18;0.085	B;B	0.20955	0.032;0.032	T	0.08827	-1.0703	10	0.27785	T	0.31	-34.4157	12.9303	0.58282	0.0738:0.0:0.9262:0.0	.	273;273	C9JIF9;P13798	.;ACPH_HUMAN	L	273;172;198;273;224	ENSP00000296456:R273L;ENSP00000414369:R172L;ENSP00000402365:R198L;ENSP00000415862:R273L;ENSP00000410366:R224L	ENSP00000296456:R273L	R	+	2	0	APEH	49689119	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.754000	0.68743	2.665000	0.90641	0.650000	0.86243	CGC	APEH	-	NULL	ENSG00000164062		0.597	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEH	HGNC	protein_coding	OTTHUMT00000346415.2	-	0.00	183	0	G			49714115	+1	tier1	-	no_errors	ENST00000296456	ensembl	human	known	74_37	missense	55.43	41	51	SNP	1.000	T
APH1A	51107	genome.wustl.edu	37	1	150238561	150238561	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:150238561delT	ENST00000369109.3	-	7	955	c.767delA	c.(766-768)tatfs	p.Y256fs	APH1A_ENST00000414276.2_Frame_Shift_Del_p.Y186fs|C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000360244.4_3'UTR|APH1A_ENST00000461320.1_5'Flank	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	256					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGGCAGAATACACCATCAC	0.642																																																	0													27.0	30.0	29.0					1																	150238561		1989	4140	6129	SO:0001589	frameshift_variant	0			AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.767delA	1.37:g.150238561delT	ENSP00000358105:p.Tyr256fs		B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Frame_Shift_Del	DEL	pfam_Aph-1	p.Y256fs	ENST00000369109.3	37	c.767	CCDS41390.1	1																																																																																			APH1A	-	NULL	ENSG00000117362		0.642	APH1A-002	KNOWN	basic|CCDS	protein_coding	APH1A	HGNC	protein_coding	OTTHUMT00000035048.1		0.00	29	0	T	NM_016022		150238561	-1	tier1		no_errors	ENST00000369109	ensembl	human	known	74_37	frame_shift_del	34.78	30	16	DEL	1.000	-
ARRB1	408	genome.wustl.edu	37	11	74985232	74985232	+	Missense_Mutation	SNP	G	G	A	rs200557530		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr11:74985232G>A	ENST00000420843.2	-	11	897	c.800C>T	c.(799-801)aCg>aTg	p.T267M	ARRB1_ENST00000393505.4_Missense_Mutation_p.T267M|ARRB1_ENST00000360025.3_Missense_Mutation_p.T267M	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	267					activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CTTGCAGAACGTCGAGCTGGG	0.592																																																	0													195.0	174.0	181.0					11																	74985232		2200	4293	6493	SO:0001583	missense	0			BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.800C>T	11.37:g.74985232G>A	ENSP00000409581:p.Thr267Met		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.T267M	ENST00000420843.2	37	c.800	CCDS44684.1	11	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588485	0.86851	.	.	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025	T;T;T	0.18338	2.22;2.22;2.22	4.8	4.8	0.61643	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.221181	0.35407	N	0.003228	T	0.45677	0.1354	M	0.88181	2.935	0.58432	D	0.999999	D;D	0.63046	0.979;0.992	P;P	0.61328	0.507;0.887	T	0.56914	-0.7900	10	0.87932	D	0	-5.9548	15.4362	0.75149	0.0:0.0:1.0:0.0	.	267;267	P49407-2;P49407	.;ARRB1_HUMAN	M	267	ENSP00000409581:T267M;ENSP00000377141:T267M;ENSP00000353124:T267M	ENSP00000353124:T267M	T	-	2	0	ARRB1	74662880	1.000000	0.71417	0.130000	0.21974	0.951000	0.60555	7.875000	0.87205	2.232000	0.73038	0.456000	0.33151	ACG	ARRB1	-	pfam_Arrestin_C-like,superfamily_Ig_E-set	ENSG00000137486		0.592	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARRB1	HGNC	protein_coding	OTTHUMT00000384092.3	-	0.00	79	0	G	NM_004041		74985232	-1	tier1	rs200557530	no_errors	ENST00000393505	ensembl	human	known	74_37	missense	62.50	15	25	SNP	0.959	A
ASTL	431705	genome.wustl.edu	37	2	96799172	96799172	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:96799172delG	ENST00000342380.2	-	5	446	c.447delC	c.(445-447)cccfs	p.P149fs		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						ACCCATACATGGGGATGATGG	0.537																																																	0													91.0	83.0	86.0					2																	96799172		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.447delC	2.37:g.96799172delG	ENSP00000343674:p.Pro149fs			Frame_Shift_Del	DEL	pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A	p.M150fs	ENST00000342380.2	37	c.447	CCDS33249.1	2																																																																																			ASTL	-	pfam_Peptidase_M12A,smart_Peptidase_Metallo	ENSG00000188886		0.537	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTL	HGNC	protein_coding	OTTHUMT00000338801.1		0.00	48	0	G			96799172	-1	tier1		no_errors	ENST00000342380	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	0.998	-
ATP6V0B	533	genome.wustl.edu	37	1	44442966	44442966	+	Intron	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:44442966C>G	ENST00000472174.2	+	7	984				B4GALT2_ENST00000434555.2_5'Flank|B4GALT2_ENST00000356836.6_5'Flank|ATP6V0B_ENST00000498664.1_Intron|ATP6V0B_ENST00000471859.2_Intron|ATP6V0B_ENST00000532642.1_Missense_Mutation_p.C223W|ATP6V0B_ENST00000236067.4_Intron|B4GALT2_ENST00000372324.1_5'Flank|B4GALT2_ENST00000309519.7_5'Flank	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				AGCTGAAGTGCTCTCCTTCTC	0.493																																																	0																																										SO:0001627	intron_variant	0			BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"""ATPases / V-type"""	861	protein-coding gene	gene with protein product		603717	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD"", ""ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"""	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.591+78C>G	1.37:g.44442966C>G			D3DPY5|Q6IB32	Missense_Mutation	SNP	pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_proteolipid_csu	p.C223W	ENST00000472174.2	37	c.669	CCDS505.1	1	.	.	.	.	.	.	.	.	.	.	C	7.583	0.669143	0.14776	.	.	ENSG00000117410	ENST00000532642	.	.	.	3.0	-2.23	0.06930	.	.	.	.	.	T	0.20618	0.0496	.	.	.	0.09310	N	1	B	0.33379	0.41	B	0.32211	0.142	T	0.19484	-1.0304	6	.	.	.	.	7.4729	0.27359	0.0:0.4126:0.0:0.5874	.	223	E9PNL3	.	W	223	.	.	C	+	3	2	ATP6V0B	44215553	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.463000	0.06696	-0.544000	0.06232	-0.137000	0.14449	TGC	ATP6V0B	-	NULL	ENSG00000117410		0.493	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0B	HGNC	protein_coding	OTTHUMT00000022854.2	-	0.00	34	0	C	NM_004047		44442966	+1	tier1	-	no_errors	ENST00000532642	ensembl	human	putative	74_37	missense	45.45	12	10	SNP	0.000	G
ATP2B4	493	genome.wustl.edu	37	1	203669435	203669435	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:203669435G>A	ENST00000357681.5	+	5	1874	c.751G>A	c.(751-753)Gac>Aac	p.D251N	ATP2B4_ENST00000341360.2_Missense_Mutation_p.D251N|ATP2B4_ENST00000367218.3_Missense_Mutation_p.D251N|ATP2B4_ENST00000367219.3_Missense_Mutation_p.D251N|ATP2B4_ENST00000391954.2_Missense_Mutation_p.D251N	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	251					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGTCCCTGGACAAAGACCC	0.522																																																	0													103.0	96.0	99.0					1																	203669435		2203	4300	6503	SO:0001583	missense	0			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.751G>A	1.37:g.203669435G>A	ENSP00000350310:p.Asp251Asn		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.D251N	ENST00000357681.5	37	c.751	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255094	0.59321	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76	4.9	4.9	0.64082	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.501430	0.18331	N	0.144500	D	0.90452	0.7010	L	0.58669	1.825	0.58432	D	0.999999	B;B;P	0.36837	0.379;0.05;0.571	B;B;B	0.40444	0.329;0.093;0.213	D	0.90270	0.4307	10	0.46703	T	0.11	-12.5866	18.036	0.89302	0.0:0.0:1.0:0.0	.	251;251;251	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	N	251	ENSP00000350310:D251N;ENSP00000356187:D251N;ENSP00000356188:D251N;ENSP00000375816:D251N;ENSP00000340930:D251N	ENSP00000340930:D251N	D	+	1	0	ATP2B4	201936058	1.000000	0.71417	0.482000	0.27366	0.390000	0.30446	6.618000	0.74214	2.427000	0.82271	0.561000	0.74099	GAC	ATP2B4	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000058668		0.522	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	-	0.00	53	0	G	NM_001001396		203669435	+1	tier1	-	no_errors	ENST00000357681	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.999	A
ATR	545	genome.wustl.edu	37	3	142168307	142168307	+	Silent	SNP	T	T	A	rs147649584		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:142168307T>A	ENST00000350721.4	-	47	8020	c.7899A>T	c.(7897-7899)ctA>ctT	p.L2633L	XRN1_ENST00000465074.1_5'Flank|XRN1_ENST00000544157.1_5'Flank|ATR_ENST00000383101.3_Silent_p.L2569L|XRN1_ENST00000264951.4_5'Flank|XRN1_ENST00000463916.1_5'Flank|XRN1_ENST00000392981.2_5'Flank	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2633	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ACATCTGGCATAGTAAGTTTT	0.343								Other conserved DNA damage response genes																																									0													118.0	116.0	116.0					3																	142168307		2203	4300	6503	SO:0001819	synonymous_variant	0			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7899A>T	3.37:g.142168307T>A			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.L2633	ENST00000350721.4	37	c.7899	CCDS3124.1	3																																																																																			ATR	-	pfam_FATC,smart_PI3/4_kinase_cat_dom,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	ENSG00000175054		0.343	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	-	0.00	67	0	T	NM_001184		142168307	-1	tier1	-	no_errors	ENST00000350721	ensembl	human	known	74_37	silent	14.75	52	9	SNP	0.289	A
ATRNL1	26033	genome.wustl.edu	37	10	117607407	117607407	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr10:117607407C>T	ENST00000355044.3	+	28	4049	c.3923C>T	c.(3922-3924)gCc>gTc	p.A1308V	ATRNL1_ENST00000423111.2_Missense_Mutation_p.A359V|ATRNL1_ENST00000303745.7_Missense_Mutation_p.A101V	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1308					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AAGCCAATTGCCATTGAACCA	0.453																																																	0													117.0	106.0	110.0					10																	117607407		2203	4300	6503	SO:0001583	missense	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3923C>T	10.37:g.117607407C>T	ENSP00000347152:p.Ala1308Val		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.A1308V	ENST00000355044.3	37	c.3923	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221073	0.79464	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T;T	0.53640	0.61;0.61;0.61	5.57	5.57	0.84162	.	0.107006	0.64402	D	0.000007	T	0.72843	0.3511	M	0.84082	2.675	0.50813	D	0.999895	D;D	0.67145	0.996;0.993	P;D	0.72625	0.875;0.978	T	0.76572	-0.2910	10	0.87932	D	0	-10.0408	19.5424	0.95280	0.0:1.0:0.0:0.0	.	359;1308	B4DH41;Q5VV63	.;ATRN1_HUMAN	V	1308;359;101	ENSP00000347152:A1308V;ENSP00000409624:A359V;ENSP00000307660:A101V	ENSP00000307660:A101V	A	+	2	0	ATRNL1	117597397	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	6.798000	0.75155	2.622000	0.88805	0.585000	0.79938	GCC	ATRNL1	-	NULL	ENSG00000107518		0.453	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	-	0.00	52	0	C	XM_049349		117607407	+1	tier1	-	no_errors	ENST00000355044	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T
BAI2	576	genome.wustl.edu	37	1	32205214	32205214	+	Silent	SNP	G	G	C	rs140390564	byFrequency	TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:32205214G>C	ENST00000373658.3	-	15	2531	c.2190C>G	c.(2188-2190)ccC>ccG	p.P730P	BAI2_ENST00000398538.1_Silent_p.P718P|BAI2_ENST00000440175.2_Silent_p.P372P|BAI2_ENST00000398547.1_Silent_p.P663P|BAI2_ENST00000373655.2_Silent_p.P730P|BAI2_ENST00000465256.1_5'Flank|BAI2_ENST00000257070.4_Silent_p.P730P|BAI2_ENST00000527361.1_Silent_p.P730P|BAI2_ENST00000398556.3_Silent_p.P678P|BAI2_ENST00000398542.1_Silent_p.P663P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	730					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CAGCTGAGACGGGCTCTCGCT	0.622																																																	0													31.0	32.0	32.0					1																	32205214		2176	4257	6433	SO:0001819	synonymous_variant	0			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2190C>G	1.37:g.32205214G>C			B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.P730	ENST00000373658.3	37	c.2190	CCDS346.2	1																																																																																			BAI2	-	pfam_DUF3497	ENSG00000121753		0.622	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	-	0.00	39	0	G	NM_001703		32205214	-1	tier1	-	no_errors	ENST00000373658	ensembl	human	known	74_37	silent	41.03	23	16	SNP	0.018	C
BCO1	53630	genome.wustl.edu	37	16	81324181	81324181	+	Nonstop_Mutation	SNP	G	G	C			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:81324181G>C	ENST00000258168.2	+	11	2104	c.1643G>C	c.(1642-1644)tGa>tCa	p.*548S	BCMO1_ENST00000425577.2_Nonstop_Mutation_p.*479S	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CCTCTGACCTGATGGTGTTGG	0.547																																																	0													54.0	57.0	56.0					16																	81324181		2202	4300	6502	SO:0001578	stop_lost	0																														ENST00000258168.2:c.1643G>C	16.37:g.81324181G>C	ENSP00000258168:p.*548Serext*60			Nonstop_Mutation	SNP	pfam_Carotenoid_Oase	p.*548S	ENST00000258168.2	37	c.1643	CCDS10934.1	16	.	.	.	.	.	.	.	.	.	.	G	8.928	0.962716	0.18583	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	.	.	.	4.32	3.36	0.38483	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4655	0.27320	0.1156:0.0:0.8844:0.0	.	.	.	.	S	548;479	.	.	X	+	2	2	BCMO1	79881682	0.700000	0.27796	0.080000	0.20451	0.007000	0.05969	2.534000	0.45676	2.405000	0.81733	0.650000	0.86243	TGA	BCMO1	-	NULL	ENSG00000135697		0.547	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCMO1	HGNC	protein_coding	OTTHUMT00000269056.1	-	0.00	39	0	G			81324181	+1	tier1	-	no_errors	ENST00000258168	ensembl	human	known	74_37	nonstop	17.31	43	9	SNP	0.054	C
BLM	641	genome.wustl.edu	37	15	91303325	91303326	+	Intron	INS	-	-	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr15:91303325_91303326insT	ENST00000355112.3	+	6	1205				BLM_ENST00000560509.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like						alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			ctagccAAGACTTTTTTTTTTT	0.431			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																														yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"""L, E"""	0																																										SO:0001627	intron_variant	0	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.1088-51->T	15.37:g.91303336_91303336dupT			Q52M96	Frame_Shift_Ins	INS	NULL	p.F405fs	ENST00000355112.3	37	c.1202_1203	CCDS10363.1	15																																																																																			BLM	-	NULL	ENSG00000197299		0.431	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLM	HGNC	protein_coding	OTTHUMT00000313495.1		0.00	27	0	-			91303326	+1	tier1		no_errors	ENST00000559724	ensembl	human	known	74_37	frame_shift_ins	14.71	29	5	INS	0.000:0.021	T
BRPF1	7862	genome.wustl.edu	37	3	9786770	9786770	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:9786770delT	ENST00000457855.1	+	9	2992	c.2981delT	c.(2980-2982)cttfs	p.L994fs	BRPF1_ENST00000424362.1_Frame_Shift_Del_p.L993fs|BRPF1_ENST00000383829.2_Frame_Shift_Del_p.L1000fs|BRPF1_ENST00000302054.3_Frame_Shift_Del_p.L994fs|BRPF1_ENST00000433861.2_Frame_Shift_Del_p.L899fs			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	994	Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GACTGCAGCCTTCCCCGGAGC	0.562																																																	0													100.0	83.0	89.0					3																	9786770		2203	4300	6503	SO:0001589	frameshift_variant	0			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2981delT	3.37:g.9786770delT	ENSP00000410210:p.Leu994fs		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Frame_Shift_Del	DEL	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain	p.R1002fs	ENST00000457855.1	37	c.2999	CCDS2575.1	3																																																																																			BRPF1	-	NULL	ENSG00000156983		0.562	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1		0.00	56	0	T	NM_001003694		9786770	+1	tier1		no_errors	ENST00000383829	ensembl	human	known	74_37	frame_shift_del	14.29	12	2	DEL	1.000	-
BZW2	28969	genome.wustl.edu	37	7	16685805	16685805	+	5'UTR	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr7:16685805C>T	ENST00000433922.2	+	0	47				BZW2_ENST00000258761.3_5'UTR|ANKMY2_ENST00000421746.1_5'Flank|BZW2_ENST00000405202.1_5'Flank|BZW2_ENST00000452975.2_5'Flank|ANKMY2_ENST00000306999.2_5'Flank|BZW2_ENST00000432311.1_3'UTR	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2						cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		GTCTGTCCTTCACTCCTCCAT	0.682																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.-132C>T	7.37:g.16685805C>T			A4D123|Q3B779|Q96JW5|Q9H3F7	RNA	SNP	-	NULL	ENST00000433922.2	37	NULL	CCDS5362.1	7																																																																																			BZW2	-	-	ENSG00000136261		0.682	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BZW2	HGNC	protein_coding	OTTHUMT00000253256.2	-	0.00	124	0	C	NM_014038		16685805	+1	tier1	-	no_errors	ENST00000432311	ensembl	human	known	74_37	rna	55.06	40	49	SNP	1.000	T
C18orf8	29919	genome.wustl.edu	37	18	21111652	21111652	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr18:21111652G>A	ENST00000269221.3	+	20	2068	c.1958G>A	c.(1957-1959)aGg>aAg	p.R653K	C18orf8_ENST00000590868.1_Missense_Mutation_p.R605K|C18orf8_ENST00000591367.1_3'UTR|NPC1_ENST00000269228.5_3'UTR	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	653						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCTCTAATGAGGCCTACAACA	0.308																																																	0													128.0	129.0	129.0					18																	21111652		2203	4300	6503	SO:0001583	missense	0			AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.1958G>A	18.37:g.21111652G>A	ENSP00000269221:p.Arg653Lys		Q9BU17|Q9Y5M0	Missense_Mutation	SNP	pfam_Mic1,superfamily_WD40_repeat_dom	p.R653K	ENST00000269221.3	37	c.1958	CCDS32803.1	18	.	.	.	.	.	.	.	.	.	.	G	6.457	0.452487	0.12283	.	.	ENSG00000141452	ENST00000269221;ENST00000540942;ENST00000542734	.	.	.	5.77	1.45	0.22620	.	0.102528	0.64402	N	0.000004	T	0.07638	0.0192	N	0.00162	-1.95	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30794	-0.9966	9	0.05833	T	0.94	-0.0278	6.6059	0.22726	0.6021:0.0:0.3979:0.0	.	653	Q96DM3	MIC1_HUMAN	K	653;605;496	.	ENSP00000269221:R653K	R	+	2	0	C18orf8	19365650	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.777000	0.47717	0.458000	0.26988	0.655000	0.94253	AGG	C18orf8	-	NULL	ENSG00000141452		0.308	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C18orf8	HGNC	protein_coding	OTTHUMT00000445386.1	-	0.00	28	0	G	NM_013326		21111652	+1	tier1	-	no_errors	ENST00000269221	ensembl	human	known	74_37	missense	23.33	23	7	SNP	1.000	A
C3orf20	84077	genome.wustl.edu	37	3	14803014	14803014	+	Missense_Mutation	SNP	G	G	A	rs199580399	byFrequency	TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:14803014G>A	ENST00000253697.3	+	15	2839	c.2387G>A	c.(2386-2388)cGt>cAt	p.R796H	C3orf20_ENST00000435614.1_Missense_Mutation_p.R674H|C3orf20_ENST00000412910.1_Missense_Mutation_p.R674H	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	796						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TTTGGGGGCCGTGTTTTGAAT	0.498													G|||	2	0.000399361	0.0	0.0029	5008	,	,		15652	0.0		0.0	False		,,,				2504	0.0																0								G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	76.0	79.0	78.0		2021,2021,2387	1.6	0.7	3		78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	C3orf20	NM_001184957.1,NM_001184958.1,NM_032137.4	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	674/783,674/783,796/905	14803014	1,13005	2203	4300	6503	SO:0001583	missense	0			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2387G>A	3.37:g.14803014G>A	ENSP00000253697:p.Arg796His		Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	NULL	p.R796H	ENST00000253697.3	37	c.2387	CCDS33706.1	3	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	7.663	0.685297	0.14973	0.0	1.16E-4	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.07908	3.44;3.15;3.15	4.64	1.61	0.23674	.	0.752485	0.11918	N	0.516952	T	0.01695	0.0054	N	0.01874	-0.695	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47433	-0.9118	10	0.15066	T	0.55	-3.44	3.5705	0.07916	0.2895:0.1978:0.5127:0.0	.	674;796	Q8ND61-2;Q8ND61	.;CC020_HUMAN	H	796;674;674	ENSP00000253697:R796H;ENSP00000402933:R674H;ENSP00000396081:R674H	ENSP00000253697:R796H	R	+	2	0	C3orf20	14778018	0.000000	0.05858	0.701000	0.30321	0.919000	0.55068	-0.090000	0.11163	1.044000	0.40200	0.591000	0.81541	CGT	C3orf20	-	NULL	ENSG00000131379		0.498	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1		0.00	61	0	G	NM_032137		14803014	+1			no_errors	ENST00000253697	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.535	A
CACNA1E	777	genome.wustl.edu	37	1	181767730	181767730	+	Silent	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:181767730C>T	ENST00000367573.2	+	48	6702	c.6702C>T	c.(6700-6702)gcC>gcT	p.A2234A	CACNA1E_ENST00000357570.5_Silent_p.A2185A|CACNA1E_ENST00000358338.5_Silent_p.A2123A|CACNA1E_ENST00000367567.4_Silent_p.A1798A|CACNA1E_ENST00000367570.1_Silent_p.A2191A|CACNA1E_ENST00000526775.1_Silent_p.A2172A|CACNA1E_ENST00000360108.3_Silent_p.A2215A	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2234					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTACTTGGCCCTGCACGAAG	0.607																																																	0													42.0	48.0	46.0					1																	181767730		2141	4260	6401	SO:0001819	synonymous_variant	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6702C>T	1.37:g.181767730C>T			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.A2234	ENST00000367573.2	37	c.6702	CCDS55664.1	1																																																																																			CACNA1E	-	NULL	ENSG00000198216		0.607	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0.00	55	0	C	NM_000721		181767730	+1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.991	T
CACNA2D1	781	genome.wustl.edu	37	7	81714152	81714152	+	Silent	SNP	G	G	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr7:81714152G>T	ENST00000356253.5	-	7	846	c.591C>A	c.(589-591)cgC>cgA	p.R197R	CACNA2D1_ENST00000356860.3_Silent_p.R197R|CACNA2D1_ENST00000423588.1_Silent_p.R197R			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	197					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GGTCTTCCTCGCGATTCTTTT	0.378																																																	0													111.0	108.0	109.0					7																	81714152		2203	4300	6503	SO:0001819	synonymous_variant	0			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.591C>A	7.37:g.81714152G>T			Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.R197	ENST00000356253.5	37	c.591		7																																																																																			CACNA2D1	-	pfam_VWA_N	ENSG00000153956		0.378	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding		-	0.00	34	0	G			81714152	-1	tier1	-	no_errors	ENST00000356253	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.949	T
CACNA2D1	781	genome.wustl.edu	37	7	82072745	82072745	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr7:82072745G>T	ENST00000356253.5	-	1	286	c.31C>A	c.(31-33)Ctg>Atg	p.L11M	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.L11M|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.L11M			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	11					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L11V(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AAAAGTGTCAGAGTCAAGGCC	0.672																																																	1	Substitution - Missense(1)	urinary_tract(1)											48.0	41.0	43.0					7																	82072745		2203	4300	6503	SO:0001583	missense	0			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.31C>A	7.37:g.82072745G>T	ENSP00000348589:p.Leu11Met		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.L11M	ENST00000356253.5	37	c.31		7	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779176	0.70107	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.24538	3.17;3.16;1.85	3.86	3.86	0.44501	.	0.000000	0.28821	N	0.014031	T	0.44138	0.1279	L	0.50333	1.59	0.80722	D	1	D	0.62365	0.991	D	0.75484	0.986	T	0.35674	-0.9779	10	0.46703	T	0.11	-3.6329	14.7546	0.69554	0.0:0.0:1.0:0.0	.	11	P54289-2	.	M	11	ENSP00000349320:L11M;ENSP00000348589:L11M;ENSP00000405395:L11M	ENSP00000284088:L11M	L	-	1	2	CACNA2D1	81910681	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.350000	0.66016	1.684000	0.51022	0.313000	0.20887	CTG	CACNA2D1	-	NULL	ENSG00000153956		0.672	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding			0.00	38	0	G			82072745	-1			no_errors	ENST00000356253	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T
CAPN2	824	genome.wustl.edu	37	1	223962880	223962880	+	3'UTR	DEL	A	A	-	rs575711265		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:223962880delA	ENST00000295006.5	+	0	2733				CAPN2_ENST00000433674.2_3'UTR|CAPN2_ENST00000474026.1_3'UTR	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit						blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TTAAATCAGGAAAAAAAAATG	0.368																																																	0																																										SO:0001624	3_prime_UTR_variant	0			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.*321A>-	1.37:g.223962880delA			A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	RNA	DEL	-	NULL	ENST00000295006.5	37	NULL	CCDS31035.1	1																																																																																			CAPN2	-	-	ENSG00000162909		0.368	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN2	HGNC	protein_coding	OTTHUMT00000090973.1		0.00	35	0	A	NM_001748		223962880	+1	tier1		no_errors	ENST00000463997	ensembl	human	known	74_37	rna	9.09	30	3	DEL	0.005	-
CASP5	838	genome.wustl.edu	37	11	104878041	104878041	+	Frame_Shift_Del	DEL	T	T	-	rs144697764		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr11:104878041delT	ENST00000260315.3	-	3	201	c.202delA	c.(202-204)acafs	p.T68fs	CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393141.2_Frame_Shift_Del_p.T81fs|CASP5_ENST00000526056.1_Frame_Shift_Del_p.T81fs|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_Frame_Shift_Del_p.T35fs|CASP5_ENST00000444749.2_Frame_Shift_Del_p.T10fs			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	68	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.T52fs*26(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		ATCTTAACTGTTTTTTTTTTG	0.358																																																	1	Deletion - Frameshift(1)	ovary(1)							,,,	386,251,42,3585		1,0,1,383,0,0,251,0,41,1455	104.0	101.0	102.0		,,,	-2.3	0.0	11	dbSNP_132	106	651,407,1,7195		0,0,0,651,0,0,407,0,1,3068	no	codingComplex,codingComplex,intron,codingComplex	CASP5	NM_004347.3,NM_001136112.1,NM_001136110.1,NM_001136109.1	,,,	1,0,1,1034,0,0,658,0,42,4523	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		12.8301,15.924,13.884	,,,	,,,	104878041	1037,658,43,10780	2202	4299	6501	SO:0001589	frameshift_variant	0				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.202delA	11.37:g.104878041delT	ENSP00000260315:p.Thr68fs		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Del	DEL	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.T81fs	ENST00000260315.3	37	c.241	CCDS8328.2	11																																																																																			CASP5	-	pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD	ENSG00000137757		0.358	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	HGNC	protein_coding	OTTHUMT00000109397.2		0.00	20	0	T	NM_004347		104878041	-1	tier1		no_errors	ENST00000393141	ensembl	human	known	74_37	frame_shift_del	14.81	23	4	DEL	0.000	-
CEP83	51134	genome.wustl.edu	37	12	94772658	94772658	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:94772658T>A	ENST00000397809.5	-	7	1259	c.710A>T	c.(709-711)gAa>gTa	p.E237V	CCDC41_ENST00000547575.1_Missense_Mutation_p.E237V|CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000339839.5_Missense_Mutation_p.E237V|CCDC41_ENST00000397807.2_Missense_Mutation_p.E204V	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		229					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						ATTCTCCTTTTCAGCCTTTAA	0.438																																																	0													145.0	139.0	141.0					12																	94772658		1851	4111	5962	SO:0001583	missense	0																														ENST00000397809.5:c.710A>T	12.37:g.94772658T>A	ENSP00000380911:p.Glu237Val		A4FVB1|Q08AP1	Missense_Mutation	SNP	NULL	p.E237V	ENST00000397809.5	37	c.710	CCDS41820.1	12	.	.	.	.	.	.	.	.	.	.	T	27.5	4.840463	0.91197	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.69	5.69	0.88448	.	.	.	.	.	T	0.45316	0.1336	M	0.63843	1.955	0.45076	D	0.99809	D;D;D	0.67145	0.996;0.989;0.996	P;P;P	0.59357	0.856;0.836;0.856	T	0.39121	-0.9629	9	0.56958	D	0.05	-15.1811	15.938	0.79729	0.0:0.0:0.0:1.0	.	237;204;229	F8VYN8;Q9Y592-2;Q9Y592	.;.;CCD41_HUMAN	V	237;237;204;237	ENSP00000344655:E237V;ENSP00000380911:E237V;ENSP00000380909:E204V;ENSP00000448913:E237V	ENSP00000344655:E237V	E	-	2	0	CCDC41	93296789	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.875000	0.75551	2.173000	0.68751	0.477000	0.44152	GAA	CCDC41	-	NULL	ENSG00000173588		0.438	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCDC41	HGNC	protein_coding	OTTHUMT00000408147.3	-	0.00	68	0	T			94772658	-1	tier1	-	no_errors	ENST00000339839	ensembl	human	known	74_37	missense	47.87	49	45	SNP	1.000	A
CCNF	899	genome.wustl.edu	37	16	2487242	2487242	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:2487242C>G	ENST00000397066.4	+	5	547	c.459C>G	c.(457-459)atC>atG	p.I153M		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	153					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GGCTCTTCATCCGCCCTCCGT	0.637																																																	0													61.0	55.0	57.0					16																	2487242		2198	4300	6498	SO:0001583	missense	0			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.459C>G	16.37:g.2487242C>G	ENSP00000380256:p.Ile153Met		B2R8H3|Q96EG9	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom	p.I153M	ENST00000397066.4	37	c.459	CCDS10467.1	16	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858287	0.71834	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.37235	1.21	5.68	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	M	0.74881	2.28	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.63088	-0.6715	10	0.87932	D	0	-30.7861	14.2797	0.66202	0.0:0.9148:0.0:0.0852	.	153	P41002	CCNF_HUMAN	M	153;68	ENSP00000380256:I153M	ENSP00000293968:I68M	I	+	3	3	CCNF	2427243	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	1.809000	0.38922	2.689000	0.91719	0.655000	0.94253	ATC	CCNF	-	NULL	ENSG00000162063		0.637	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNF	HGNC	protein_coding	OTTHUMT00000250801.1		0.00	43	0	C	NM_001761		2487242	+1			no_errors	ENST00000397066	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	G
CCPG1	9236	genome.wustl.edu	37	15	55681620	55681620	+	Start_Codon_SNP	SNP	C	C	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr15:55681620C>A	ENST00000310958.6	-	2	301	c.3G>T	c.(1-3)atG>atT	p.M1I	CCPG1_ENST00000442196.3_Start_Codon_SNP_p.M1I|CCPG1_ENST00000569205.1_Start_Codon_SNP_p.M1I|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Start_Codon_SNP_p.M1I	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	1	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		AATTTTCAGACATCTTTCAGG	0.303																																																	0													67.0	62.0	64.0					15																	55681620		1822	4075	5897	SO:0001582	initiator_codon_variant	0			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.3G>T	15.37:g.55681620C>A	ENSP00000311656:p.Met1Ile		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	NULL	p.M1I	ENST00000310958.6	37	c.3	CCDS42039.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.076617|4.076617	0.76415|0.76415	.|.	.|.	ENSG00000256061|ENSG00000256061	ENST00000420792|ENST00000310958;ENST00000442196;ENST00000425574	.|T;T;T	.|0.48836	.|3.15;3.15;0.8	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69360|0.69360	0.3102|0.3102	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.67145	.|0.982;0.982;0.996	.|D;D;D	.|0.75484	.|0.961;0.961;0.986	T|T	0.73477|0.73477	-0.3970|-0.3970	5|9	0.87932|0.87932	D|D	0|0	.|.	15.7227|15.7227	0.77724|0.77724	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1;1;1	.|A8K9T0;Q9ULG6-3;Q9ULG6	.|.;.;CCPG1_HUMAN	F|I	302|1	.|ENSP00000311656:M1I;ENSP00000403400:M1I;ENSP00000415128:M1I	ENSP00000392005:C302F|ENSP00000311656:M1I	C|M	-|-	2|3	0|0	DYX1C1|DYX1C1	53468912|53468912	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.014000|5.014000	0.64029|0.64029	2.549000|2.549000	0.85964|0.85964	0.650000|0.650000	0.86243|0.86243	TGT|ATG	CCPG1	-	NULL	ENSG00000260916		0.303	CCPG1-001	KNOWN	basic|CCDS	protein_coding	CCPG1	HGNC	protein_coding	OTTHUMT00000419850.1		0.00	26	0	C	NM_004748	Missense_Mutation	55681620	-1			no_errors	ENST00000310958	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	A
CCR10	2826	genome.wustl.edu	37	17	40832242	40832242	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr17:40832242C>A	ENST00000332438.4	-	2	437	c.418G>T	c.(418-420)Gtg>Ttg	p.V140L	CCR10_ENST00000591765.1_5'UTR|CTD-3193K9.4_ENST00000593139.1_RNA|CNTNAP1_ENST00000264638.4_5'Flank|CTD-3193K9.3_ENST00000592440.1_RNA	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	140					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCGATGGCCACGTAGCGGTCG	0.692																																																	0													11.0	14.0	13.0					17																	40832242		2181	4272	6453	SO:0001583	missense	0			AF215981	CCDS11435.1	17q21.1-q21.3	2012-08-08	2004-11-12	2004-11-12	ENSG00000184451	ENSG00000184451		"""GPCR / Class A : Chemokine receptors : C-C motif"""	4474	protein-coding gene	gene with protein product		600240	"""G protein-coupled receptor 2"""	GPR2		7851889	Standard	NM_016602		Approved		uc002iax.4	P46092	OTTHUMG00000132301	ENST00000332438.4:c.418G>T	17.37:g.40832242C>A	ENSP00000332504:p.Val140Leu		Q4V749|Q6T7X2|Q9NZG2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR10,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt	p.V140L	ENST00000332438.4	37	c.418	CCDS11435.1	17	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102081	0.37048	.	.	ENSG00000184451	ENST00000332438	T	0.34667	1.35	4.1	3.12	0.35913	GPCR, rhodopsin-like superfamily (1);	0.200626	0.24438	N	0.038534	T	0.09202	0.0227	N	0.00566	-1.37	0.80722	D	1	B	0.12013	0.005	B	0.13407	0.009	T	0.08597	-1.0714	10	0.12430	T	0.62	.	6.7651	0.23562	0.0:0.7188:0.1827:0.0984	.	140	P46092	CCR10_HUMAN	L	140	ENSP00000332504:V140L	ENSP00000332504:V140L	V	-	1	0	CCR10	38085768	0.000000	0.05858	0.999000	0.59377	0.789000	0.44602	-0.549000	0.06041	0.908000	0.36671	-0.502000	0.04539	GTG	CCR10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000184451		0.692	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR10	HGNC	protein_coding	OTTHUMT00000255406.1	-	0.00	14	0	C	NM_016602		40832242	-1	tier1	-	no_errors	ENST00000332438	ensembl	human	known	74_37	missense	53.85	6	7	SNP	0.985	A
CD4	920	genome.wustl.edu	37	12	6924124	6924124	+	Silent	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:6924124G>A	ENST00000011653.4	+	5	831	c.573G>A	c.(571-573)aaG>aaA	p.K191K	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Silent_p.K136K	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	191	Ig-like C2-type 1.		K -> E (in dbSNP:rs28917504). {ECO:0000269|Ref.8}.		cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AGAACCAGAAGAAGGTGGAGT	0.577																																																	0													82.0	67.0	72.0					12																	6924124		2203	4300	6503	SO:0001819	synonymous_variant	0			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.573G>A	12.37:g.6924124G>A			B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Silent	SNP	pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4	p.K191	ENST00000011653.4	37	c.573	CCDS8562.1	12																																																																																			CD4	-	pfam_Ig_C2-set,smart_Ig_sub,smart_Ig_sub2	ENSG00000010610		0.577	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD4	HGNC	protein_coding	OTTHUMT00000399978.1	-	0.00	36	0	G	NM_000616		6924124	+1	tier1	-	no_errors	ENST00000011653	ensembl	human	known	74_37	silent	11.86	52	7	SNP	0.000	A
CD163	9332	genome.wustl.edu	37	12	7649729	7649729	+	Splice_Site	SNP	T	T	C			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:7649729T>C	ENST00000359156.4	-	5	981	c.779A>G	c.(778-780)aAg>aGg	p.K260R	CD163_ENST00000432237.2_Splice_Site_p.K260R|CD163_ENST00000541972.1_Splice_Site_p.K248R|CD163_ENST00000396620.3_Splice_Site_p.K260R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	260					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	ATCTGCTCCCTCTGTAACAGA	0.433																																																	0													134.0	113.0	120.0					12																	7649729		2203	4300	6503	SO:0001630	splice_region_variant	0			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.779-1A>G	12.37:g.7649729T>C			C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.K260R	ENST00000359156.4	37	c.779	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	T	4.801	0.148998	0.09185	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	4.9	-0.281	0.12882	Speract/scavenger receptor-related (1);	1.073890	0.07207	N	0.858484	T	0.11537	0.0281	N	0.02916	-0.46	0.09310	N	1	B;B;B	0.21905	0.036;0.001;0.062	B;B;B	0.18263	0.021;0.0;0.013	T	0.29640	-1.0005	10	0.24483	T	0.36	.	4.3249	0.11036	0.1504:0.3461:0.0:0.5035	.	260;260;260	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	R	260;248;260;260	ENSP00000352071:K260R;ENSP00000444071:K248R;ENSP00000379863:K260R;ENSP00000403885:K260R	ENSP00000352071:K260R	K	-	2	0	CD163	7540996	0.245000	0.23899	0.039000	0.18376	0.352000	0.29268	0.418000	0.21230	-0.001000	0.14495	-0.609000	0.04063	AAG	CD163	-	superfamily_Srcr_rcpt-rel	ENSG00000177575		0.433	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2	-	0.00	69	0	T	NM_004244, NM_203416	Missense_Mutation	7649729	-1	tier1	-	no_errors	ENST00000359156	ensembl	human	known	74_37	missense	20.81	137	36	SNP	0.049	C
CDH10	1008	genome.wustl.edu	37	5	24488069	24488069	+	Silent	SNP	A	A	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr5:24488069A>G	ENST00000264463.4	-	12	2577	c.2070T>C	c.(2068-2070)atT>atC	p.I690I	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	690					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTTCTGGAATAATATCTCGCC	0.478										HNSCC(23;0.051)																																							0													63.0	69.0	67.0					5																	24488069		2203	4300	6503	SO:0001819	synonymous_variant	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2070T>C	5.37:g.24488069A>G			Q9ULB3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.I690	ENST00000264463.4	37	c.2070	CCDS3892.1	5																																																																																			CDH10	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000040731		0.478	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	-	0.00	30	0	A	NM_006727		24488069	-1	tier1	-	no_errors	ENST00000264463	ensembl	human	known	74_37	silent	57.14	12	16	SNP	0.998	G
CEACAM18	729767	genome.wustl.edu	37	19	51986564	51986564	+	Intron	SNP	C	C	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:51986564C>A	ENST00000396477.4	+	4	974				CEACAM18_ENST00000451626.1_Missense_Mutation_p.P384T	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18											breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGCAGCTCCCCTCCAGGCTC	0.602																																																	0													48.0	50.0	50.0					19																	51986564		2135	4239	6374	SO:0001627	intron_variant	0					19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.953+14C>A	19.37:g.51986564C>A			C9JN24	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P384T	ENST00000396477.4	37	c.1150		19	.	.	.	.	.	.	.	.	.	.	.	2.028	-0.423071	0.04734	.	.	ENSG00000213822	ENST00000451626	T	0.04862	3.54	1.91	-0.466	0.12153	.	.	.	.	.	T	0.02970	0.0088	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.47071	-0.9145	8	.	.	.	.	2.5314	0.04703	0.2857:0.5365:0.0:0.1778	.	384	A8MTB9	CEA18_HUMAN	T	384	ENSP00000402203:P384T	.	P	+	1	0	CEACAM18	56678376	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	0.222000	0.17699	0.004000	0.14682	-0.365000	0.07479	CCT	CEACAM18	-	NULL	ENSG00000213822		0.602	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	HGNC	protein_coding	OTTHUMT00000323114.2	-	0.00	61	0	C			51986564	+1	tier1	-	no_errors	ENST00000451626	ensembl	human	known	74_37	missense	45.45	23	20	SNP	0.002	A
CEPT1	10390	genome.wustl.edu	37	1	111724581	111724582	+	Intron	INS	-	-	T	rs369763265		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:111724581_111724582insT	ENST00000545121.1	+	6	922				CEPT1_ENST00000357172.4_Intron|RP5-1180E21.5_ENST00000610049.1_RNA|RP5-1180E21.4_ENST00000607951.1_RNA|CEPT1_ENST00000467362.1_3'UTR	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1						CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	TGGTTTTTTTGTTTTTTTTAAG	0.351																																																	0																																										SO:0001627	intron_variant	0			AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.715-227->T	1.37:g.111724589_111724589dupT			Q69YJ9|Q9P0Y8	RNA	INS	-	NULL	ENST00000545121.1	37	NULL	CCDS830.1	1																																																																																			CEPT1	-	-	ENSG00000134255		0.351	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEPT1	HGNC	protein_coding	OTTHUMT00000034462.2		0.00	8	0	-	NM_006090		111724582	+1	tier1		no_errors	ENST00000467362	ensembl	human	known	74_37	rna	28.57	10	4	INS	0.007:0.000	T
CHD2	1106	genome.wustl.edu	37	15	93515583	93515583	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr15:93515583C>G	ENST00000394196.4	+	19	3509	c.2441C>G	c.(2440-2442)tCt>tGt	p.S814C	CHD2_ENST00000557381.1_Missense_Mutation_p.S814C	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	814	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CTTATCTTCTCTCAGATGGTG	0.408																																																	0													133.0	125.0	128.0					15																	93515583		2197	4298	6495	SO:0001583	missense	0			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2441C>G	15.37:g.93515583C>G	ENSP00000377747:p.Ser814Cys		C6G482|Q96IP5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.S814C	ENST00000394196.4	37	c.2441	CCDS10374.2	15	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344939	0.82022	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.75260	-0.92;-0.92	5.04	4.12	0.48240	Helicase, C-terminal (1);	0.000000	0.34088	U	0.004274	D	0.87593	0.6216	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89924	0.4061	10	0.87932	D	0	-13.1283	15.5096	0.75769	0.0:0.8612:0.1388:0.0	.	814;814	O14647;O14647-2	CHD2_HUMAN;.	C	814	ENSP00000377747:S814C;ENSP00000451366:S814C	ENSP00000377747:S814C	S	+	2	0	CHD2	91316587	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.750000	0.85110	1.115000	0.41800	0.650000	0.86243	TCT	CHD2	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000173575		0.408	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	-	0.00	28	0	C	NM_001271		93515583	+1	tier1	-	no_errors	ENST00000557381	ensembl	human	putative	74_37	missense	7.02	53	4	SNP	1.000	G
CIC	23152	genome.wustl.edu	37	19	42790978	42790978	+	Silent	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:42790978C>G	ENST00000575354.2	+	2	163	c.123C>G	c.(121-123)gtC>gtG	p.V41V	CIC_ENST00000575839.2_3'UTR|CIC_ENST00000572681.2_Silent_p.V950V|CIC_ENST00000160740.3_Silent_p.V41V	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	41	Interaction with ATXN1. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			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)				ACTCCTTAGTCCCCTTCCTGG	0.642			"""Mis, F, S"""		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													80.0	73.0	75.0					19																	42790978		2203	4300	6503	SO:0001819	synonymous_variant	0			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.123C>G	19.37:g.42790978C>G			Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.V41	ENST00000575354.2	37	c.123	CCDS12601.1	19																																																																																			CIC	-	NULL	ENSG00000079432		0.642	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2		0.00	52	0	C			42790978	+1			no_errors	ENST00000575354	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.995	G
CIC	23152	genome.wustl.edu	37	19	42793154	42793154	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:42793154C>T	ENST00000575354.2	+	7	1086	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	CIC_ENST00000572681.2_Missense_Mutation_p.S1258L|CIC_ENST00000160740.3_Missense_Mutation_p.S349L	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			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)				GGACCTGGCTCAGCCCGGCCC	0.642			"""Mis, F, S"""		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													47.0	53.0	51.0					19																	42793154		2202	4300	6502	SO:0001583	missense	0			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.1046C>T	19.37:g.42793154C>T	ENSP00000458663:p.Ser349Leu		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.S349L	ENST00000575354.2	37	c.1046	CCDS12601.1	19	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023267	0.54683	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	T	0.18759	0.0450	N	0.02539	-0.55	0.33398	D	0.576912	P	0.37466	0.596	B	0.29862	0.108	T	0.33650	-0.9860	8	0.87932	D	0	-9.5351	13.1435	0.59448	0.0:1.0:0.0:0.0	.	349	Q96RK0	CIC_HUMAN	L	349	.	ENSP00000160740:S349L	S	+	2	0	CIC	47484994	0.984000	0.35163	0.994000	0.49952	0.967000	0.64934	1.770000	0.38532	2.475000	0.83589	0.555000	0.69702	TCA	CIC	-	NULL	ENSG00000079432		0.642	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	-	0.00	35	0	C			42793154	+1	tier1	-	no_errors	ENST00000575354	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.998	T
CITED2	10370	genome.wustl.edu	37	6	139694904	139694904	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:139694904C>T	ENST00000367651.2	-	2	393	c.178G>A	c.(178-180)Gcg>Acg	p.A60T	CITED2_ENST00000536159.1_Missense_Mutation_p.A60T|CITED2_ENST00000537332.1_Missense_Mutation_p.A60T	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	60					adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		ATGTTGCCCGCGCCGTAGTGT	0.692																																					NSCLC(98;1219 1550 33720 43229 49330)												0													43.0	42.0	42.0					6																	139694904		2203	4300	6503	SO:0001583	missense	0			U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442			1987	protein-coding gene	gene with protein product		602937				8901575, 10552932	Standard	NM_006079		Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.178G>A	6.37:g.139694904C>T	ENSP00000356623:p.Ala60Thr		O95426|Q5VTF4	Missense_Mutation	SNP	pfam_CITED	p.A60T	ENST00000367651.2	37	c.178	CCDS5195.1	6	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587252	0.28268	.	.	ENSG00000164442	ENST00000367651;ENST00000536159;ENST00000537332;ENST00000392312	T;T;T	0.63744	-0.06;-0.06;-0.06	4.22	4.22	0.49857	.	0.196102	0.33290	N	0.005062	T	0.33294	0.0858	L	0.29908	0.895	0.30553	N	0.76531	P	0.51653	0.947	B	0.40702	0.338	T	0.18116	-1.0347	9	.	.	.	-3.7391	13.0111	0.58731	0.0:0.8378:0.1622:0.0	.	60	Q99967	CITE2_HUMAN	T	60	ENSP00000356623:A60T;ENSP00000442831:A60T;ENSP00000444198:A60T	.	A	-	1	0	CITED2	139736597	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.514000	0.35834	2.377000	0.81083	0.456000	0.33151	GCG	CITED2	-	pfam_CITED	ENSG00000164442		0.692	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CITED2	HGNC	protein_coding	OTTHUMT00000042463.1	-	0.00	64	0	C			139694904	-1	tier1	-	no_errors	ENST00000367651	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T
CLCN3	1182	genome.wustl.edu	37	4	170608906	170608906	+	Missense_Mutation	SNP	C	C	T	rs200318516		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:170608906C>T	ENST00000513761.1	+	4	975	c.416C>T	c.(415-417)tCa>tTa	p.S139L	CLCN3_ENST00000504131.2_Missense_Mutation_p.S122L|CLCN3_ENST00000347613.4_Missense_Mutation_p.S139L|CLCN3_ENST00000360642.3_Missense_Mutation_p.S139L	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	139					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GGATTGGCATCAGGTAAAGAA	0.358																																																	0													104.0	98.0	100.0					4																	170608906		2203	4300	6503	SO:0001583	missense	0			X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.416C>T	4.37:g.170608906C>T	ENSP00000424603:p.Ser139Leu		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-3	p.S139L	ENST00000513761.1	37	c.416	CCDS34101.1	4	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765745	0.69878	.	.	ENSG00000109572	ENST00000511092;ENST00000513761;ENST00000347613;ENST00000360642;ENST00000538301;ENST00000504131;ENST00000507875	D;D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11;-3.11	5.29	5.29	0.74685	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.89719	0.6796	L	0.35644	1.08	0.80722	D	1	B;B;B;B;B	0.23735	0.054;0.054;0.024;0.054;0.09	B;B;B;B;B	0.28139	0.04;0.04;0.027;0.027;0.086	D	0.86949	0.2084	10	0.72032	D	0.01	-7.54	18.9358	0.92584	0.0:1.0:0.0:0.0	.	139;122;112;139;139	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	L	139;139;139;139;139;122;112	ENSP00000425160:S139L;ENSP00000424603:S139L;ENSP00000261514:S139L;ENSP00000353857:S139L;ENSP00000424540:S122L;ENSP00000425323:S112L	ENSP00000261514:S139L	S	+	2	0	CLCN3	170845481	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	7.479000	0.81095	2.469000	0.83416	0.557000	0.71058	TCA	CLCN3	-	superfamily_Cl-channel_core	ENSG00000109572		0.358	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLCN3	HGNC	protein_coding	OTTHUMT00000363210.2	-	0.00	115	0	C			170608906	+1	tier1	rs200318516	no_errors	ENST00000347613	ensembl	human	known	74_37	missense	7.09	130	10	SNP	1.000	T
CMTM3	123920	genome.wustl.edu	37	16	66642288	66642289	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:66642288_66642289insCC	ENST00000424011.2	+	3	750_751	c.224_225insCC	c.(223-228)ttcctgfs	p.L76fs	CMTM3_ENST00000565922.1_Intron|CMTM3_ENST00000460097.1_5'UTR|CMTM3_ENST00000360086.4_Intron|CMTM3_ENST00000564060.1_Frame_Shift_Ins_p.L76fs|CMTM3_ENST00000361909.4_Frame_Shift_Ins_p.L76fs|CMTM3_ENST00000567572.1_Frame_Shift_Ins_p.L76fs|CMTM3_ENST00000568477.1_5'UTR|CMTM3_ENST00000565666.1_5'UTR|CMTM3_ENST00000562707.1_Frame_Shift_Ins_p.L76fs|CMTM3_ENST00000566121.1_5'UTR|CMTM3_ENST00000565003.1_5'UTR			Q96MX0	CKLF3_HUMAN	CKLF-like MARVEL transmembrane domain containing 3	76	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)|positive regulation of B cell receptor signaling pathway (GO:0050861)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				central_nervous_system(1)|endometrium(1)|lung(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0671)|Epithelial(162;0.164)		CTGCTGGAGTTCCTGCTGGCCT	0.564											OREG0023859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	0			AK056324	CCDS10815.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140931	ENSG00000140931			19174	protein-coding gene	gene with protein product		607886	"""chemokine-like factor superfamily 3"""	CKLFSF3		15087455	Standard	NM_144601		Approved	FLJ31762, BNAS2	uc002epv.3	Q96MX0	OTTHUMG00000137503	ENST00000424011.2:c.225_226dupCC	16.37:g.66642289_66642290dupCC	ENSP00000400482:p.Leu76fs	1093	A6NCL9|Q8IUU8|Q8IWQ6|Q8IYE2|Q8IZ39|Q8IZ59	Frame_Shift_Ins	INS	pfam_Marvel	p.L76fs	ENST00000424011.2	37	c.224_225	CCDS10815.1	16																																																																																			CMTM3	-	pfam_Marvel	ENSG00000140931		0.564	CMTM3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	CMTM3	HGNC	protein_coding	OTTHUMT00000268814.2		0.00	36	0	-	NM_144601		66642289	+1	tier1		no_errors	ENST00000361909	ensembl	human	known	74_37	frame_shift_ins	26.32	14	5	INS	1.000:1.000	CC
CNTD2	79935	genome.wustl.edu	37	19	40732494	40732494	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:40732494T>A	ENST00000430325.2	-	1	103	c.55A>T	c.(55-57)Agg>Tgg	p.R19W	CNTD2_ENST00000433940.1_Missense_Mutation_p.R19W|CNTD2_ENST00000513948.1_5'Flank	NM_024877.3	NP_079153.2	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2	19					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					lung(1)|prostate(1)	2						GCCCAGCGCCTAACGATAGGC	0.711																																																	0													6.0	9.0	8.0					19																	40732494		2123	4199	6322	SO:0001583	missense	0			AK023327	CCDS12551.1, CCDS12551.2	19q13.2	2014-07-03				ENSG00000105219			25805	protein-coding gene	gene with protein product	"""cyclin P"""					11237006	Standard	NM_024877		Approved	FLJ13265, CCNP	uc010xvi.2	Q9H8S5		ENST00000430325.2:c.55A>T	19.37:g.40732494T>A	ENSP00000396755:p.Arg19Trp		B4DX65	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.R19W	ENST00000430325.2	37	c.55	CCDS12551.2	19	.	.	.	.	.	.	.	.	.	.	T	12.89	2.072604	0.36566	.	.	ENSG00000105219	ENST00000430325;ENST00000433940	T	0.45276	0.9	4.45	-8.91	0.00778	.	4.300170	0.00783	N	0.001284	T	0.24699	0.0599	.	.	.	0.09310	N	1	P	0.34699	0.464	B	0.32980	0.156	T	0.24693	-1.0153	9	0.66056	D	0.02	-21.7431	2.3389	0.04254	0.1793:0.3429:0.3222:0.1556	.	19	B4DX65	.	W	19	ENSP00000396755:R19W	ENSP00000221818:R19W	R	-	1	2	CNTD2	45424334	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.476000	0.02333	-1.929000	0.01057	-1.226000	0.01582	AGG	CNTD2	-	pirsf_Cyclin_A/B/D/E	ENSG00000105219		0.711	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTD2	HGNC	protein_coding	OTTHUMT00000360785.1	-	0.00	11	0	T	NM_024877		40732494	-1	tier1	-	no_errors	ENST00000430325	ensembl	human	known	74_37	missense	57.14	3	4	SNP	0.000	A
CPEB4	80315	genome.wustl.edu	37	5	173383260	173383260	+	3'UTR	SNP	A	A	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr5:173383260A>G	ENST00000265085.5	+	0	3764				CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000334035.5_3'UTR|CPEB4_ENST00000517880.1_3'UTR|CPEB4_ENST00000522336.1_3'UTR	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4						cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TAACTTAACTATAGTATAATG	0.393																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.*120A>G	5.37:g.173383260A>G			B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	RNA	SNP	-	NULL	ENST00000265085.5	37	NULL	CCDS4390.1	5																																																																																			CPEB4	-	-	ENSG00000113742		0.393	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPEB4	HGNC	protein_coding	OTTHUMT00000252964.2	-	0.00	52	0	A	NM_030627		173383260	+1	tier1	-	no_errors	ENST00000519467	ensembl	human	known	74_37	rna	47.06	27	24	SNP	0.997	G
CPNE5	57699	genome.wustl.edu	37	6	36730753	36730753	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:36730753C>A	ENST00000244751.2	-	12	1420	c.796G>T	c.(796-798)Gag>Tag	p.E266*		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	266	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GTGGTGAACTCCCCAATGAAG	0.582																																																	0													135.0	109.0	118.0					6																	36730753		2203	4300	6503	SO:0001587	stop_gained	0			H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.796G>T	6.37:g.36730753C>A	ENSP00000244751:p.Glu266*		Q7Z6C8	Nonsense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.E266*	ENST00000244751.2	37	c.796	CCDS4825.1	6	.	.	.	.	.	.	.	.	.	.	C	44	10.766215	0.99464	.	.	ENSG00000124772	ENST00000244751	.	.	.	5.36	5.36	0.76844	.	0.050308	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	16.9553	0.86257	0.0:1.0:0.0:0.0	.	.	.	.	X	266	.	ENSP00000244751:E266X	E	-	1	0	CPNE5	36838731	1.000000	0.71417	0.996000	0.52242	0.898000	0.52572	7.117000	0.77129	2.693000	0.91896	0.313000	0.20887	GAG	CPNE5	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000124772		0.582	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE5	HGNC	protein_coding	OTTHUMT00000040351.1	-	0.00	43	0	C	NM_020939		36730753	-1	tier1	-	no_errors	ENST00000244751	ensembl	human	known	74_37	nonsense	56.00	11	14	SNP	1.000	A
CPZ	8532	genome.wustl.edu	37	4	8620227	8620227	+	Silent	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:8620227C>G	ENST00000360986.4	+	10	1749	c.1575C>G	c.(1573-1575)gtC>gtG	p.V525V	CPZ_ENST00000315782.6_Silent_p.V514V|CPZ_ENST00000429646.2_Silent_p.V133V|CPZ_ENST00000382480.2_Silent_p.V388V	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	525					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGATCTCAGTCAAAGGCATTC	0.602																																																	0													107.0	93.0	98.0					4																	8620227		2203	4300	6503	SO:0001819	synonymous_variant	0			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1575C>G	4.37:g.8620227C>G			O00520|Q96MX2	Silent	SNP	pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom	p.V525	ENST00000360986.4	37	c.1575	CCDS33953.1	4																																																																																			CPZ	-	superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14	ENSG00000109625		0.602	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	HGNC	protein_coding	OTTHUMT00000207001.4	-	0.00	35	0	C	NM_003652		8620227	+1	tier1	-	no_errors	ENST00000360986	ensembl	human	known	74_37	silent	30.00	14	6	SNP	0.991	G
CWH43	80157	genome.wustl.edu	37	4	49034650	49034650	+	Nonsense_Mutation	SNP	G	G	T	rs376324090		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:49034650G>T	ENST00000226432.4	+	12	1759	c.1576G>T	c.(1576-1578)Gag>Tag	p.E526*	CWH43_ENST00000513409.1_Nonsense_Mutation_p.E499*	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	526					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.E526K(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ACCAGAGGGCGAGATCGCACC	0.478																																																	1	Substitution - Missense(1)	large_intestine(1)						G	stop/GLU	0,4406		0,0,2203	231.0	198.0	209.0		1576	4.4	1.0	4		209	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	CWH43	NM_025087.2		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		526/700	49034650	1,13005	2203	4300	6503	SO:0001587	stop_gained	0				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1576G>T	4.37:g.49034650G>T	ENSP00000226432:p.Glu526*		B2RPD7	Nonsense_Mutation	SNP	superfamily_Endo/exonuclease/phosphatase	p.E526*	ENST00000226432.4	37	c.1576	CCDS3486.1	4	.	.	.	.	.	.	.	.	.	.	G	38	6.883273	0.97908	0.0	1.16E-4	ENSG00000109182	ENST00000226432;ENST00000513409	.	.	.	5.24	4.38	0.52667	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2826	0.54774	0.0809:0.0:0.9191:0.0	.	.	.	.	X	526;499	.	.	E	+	1	0	CWH43	48729407	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.479000	0.60236	2.737000	0.93849	0.561000	0.74099	GAG	CWH43	-	superfamily_Endo/exonuclease/phosphatase	ENSG00000109182		0.478	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2		0.00	53	0	G	NM_025087		49034650	+1			no_errors	ENST00000226432	ensembl	human	known	74_37	nonsense	5.45	52	3	SNP	1.000	T
CXCR2	3579	genome.wustl.edu	37	2	218999543	218999543	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:218999543G>T	ENST00000318507.2	+	3	446	c.19G>T	c.(19-21)Gag>Tag	p.E7*		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	7					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TTTTAACATGGAGAGTGACAG	0.403																																																	0													72.0	70.0	71.0					2																	218999543		2203	4300	6503	SO:0001587	stop_gained	0			U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.19G>T	2.37:g.218999543G>T	ENSP00000319635:p.Glu7*		Q8IUZ1|Q9P2T6|Q9P2T7	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR2,prints_Chemokine_rcpt,prints_Chemokine_CXCR4	p.E7*	ENST00000318507.2	37	c.19	CCDS2408.1	2	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841267	0.71488	.	.	ENSG00000180871	ENST00000453237;ENST00000415392;ENST00000449014;ENST00000318507;ENST00000454148;ENST00000428565;ENST00000418878	.	.	.	4.54	1.73	0.24493	.	8.431280	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	7.763	0.28963	0.2897:0.0:0.7103:0.0	.	.	.	.	X	7	.	ENSP00000319635:E7X	E	+	1	0	CXCR2	218707788	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.301000	0.19174	0.655000	0.30866	0.456000	0.33151	GAG	CXCR2	-	prints_Chemokine_CXCR2	ENSG00000180871		0.403	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR2	HGNC	protein_coding	OTTHUMT00000256772.2		0.00	48	0	G	NM_001557		218999543	+1			no_errors	ENST00000318507	ensembl	human	known	74_37	nonsense	6.67	42	3	SNP	0.000	T
CYP4F12	66002	genome.wustl.edu	37	19	15795913	15795913	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:15795913C>A	ENST00000550308.1	+	9	1401	c.1021C>A	c.(1021-1023)Ctg>Atg	p.L341M	CYP4F12_ENST00000324632.10_Missense_Mutation_p.L341M	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	341					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CTCCTGGGTCCTGTACAACCT	0.592											OREG0006800	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CYP4F12|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																					0													50.0	47.0	48.0					19																	15795913		2203	4300	6503	SO:0001583	missense	0			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1021C>A	19.37:g.15795913C>A	ENSP00000448998:p.Leu341Met	705	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.L341M	ENST00000550308.1	37	c.1021	CCDS42517.1	19	.	.	.	.	.	.	.	.	.	.	.	11.30	1.596844	0.28445	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	D;D	0.82711	-1.64;-1.64	2.47	1.43	0.22495	.	0.106410	0.39210	U	0.001422	D	0.88562	0.6470	M	0.77103	2.36	0.45427	D	0.998404	D	0.89917	1.0	D	0.83275	0.996	D	0.86925	0.2069	10	0.87932	D	0	.	7.6214	0.28187	0.0:0.8593:0.0:0.1407	.	341	Q9HCS2	CP4FC_HUMAN	M	341	ENSP00000448998:L341M;ENSP00000321821:L341M	ENSP00000321821:L341M	L	+	1	2	CYP4F12	15656913	0.965000	0.33210	0.445000	0.26908	0.010000	0.07245	1.048000	0.30379	0.591000	0.29711	-0.657000	0.03884	CTG	CYP4F12	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	ENSG00000186204		0.592	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F12	HGNC	protein_coding	OTTHUMT00000378938.9	-	0.00	53	0	C			15795913	+1	tier1	-	no_errors	ENST00000324632	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.999	A
DACH2	117154	genome.wustl.edu	37	X	85994844	85994845	+	Nonsense_Mutation	DNP	CC	CC	AG			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chrX:85994844_85994845CC>AG	ENST00000373125.4	+	7	1199_1200	c.1199_1200CC>AG	c.(1198-1200)tCC>tAG	p.S400*	DACH2_ENST00000510272.1_Nonsense_Mutation_p.S181*|DACH2_ENST00000508860.1_Nonsense_Mutation_p.S233*|DACH2_ENST00000373131.1_Nonsense_Mutation_p.S387*	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	400					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGCAGTGTGTCCAGCTCTCCCT	0.47																																																	0																																										SO:0001587	stop_gained	0			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	Exception_encountered	X.37:g.85994844_85994845delinsAG	ENSP00000362217:p.Ser400*		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation|Silent	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.S400Y|p.S400	ENST00000373125.4	37	c.1199|c.1200	CCDS14455.1	X																																																																																			DACH2	-	NULL	ENSG00000126733		0.470	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACH2	HGNC	protein_coding	OTTHUMT00000359266.1	-	0.00	17	0	C	NM_053281		85994844|85994845	+1	tier1	-	no_errors	ENST00000373125	ensembl	human	known	74_37	missense|silent	72.73|76.19	5	16	SNP	1.000	A|G
DACT2	168002	genome.wustl.edu	37	6	168708169	168708169	+	Silent	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:168708169C>T	ENST00000366795.3	-	4	2356	c.2268G>A	c.(2266-2268)ctG>ctA	p.L756L	DACT2_ENST00000366796.3_Intron|DACT2_ENST00000610183.1_Silent_p.L586L|DACT2_ENST00000607983.1_Silent_p.L348L	NM_214462.3	NP_999627.2	Q5SW24	DACT2_HUMAN	dishevelled-binding antagonist of beta-catenin 2	756					epithelial cell morphogenesis (GO:0003382)|hematopoietic progenitor cell differentiation (GO:0002244)|inner medullary collecting duct development (GO:0072061)|negative regulation of cell adhesion (GO:0007162)|negative regulation of nodal signaling pathway (GO:1900108)|skin development (GO:0043588)	mitochondrion (GO:0005739)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)|transcription factor binding (GO:0008134)			endometrium(1)	1		Breast(66;1.46e-05)|Ovarian(120;0.0728)		OV - Ovarian serous cystadenocarcinoma(33;5.33e-21)|BRCA - Breast invasive adenocarcinoma(81;1.18e-06)|GBM - Glioblastoma multiforme(31;0.000957)		TCTTCTTCTTCAGGGCCTTGG	0.647																																																	0													51.0	49.0	50.0					6																	168708169		692	1591	2283	SO:0001819	synonymous_variant	0			AF318336	CCDS47519.1, CCDS69241.1, CCDS75554.1	6q27	2013-05-15	2013-05-15	2003-09-17	ENSG00000164488	ENSG00000164488			21231	protein-coding gene	gene with protein product		608966	"""chromosome 6 open reading frame 116"", ""dapper homolog 2, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 2 (Xenopus laevis)"""	C6orf116			Standard	NM_001286351		Approved	bA503C24.7, DAPPER2	uc003qwq.3	Q5SW24	OTTHUMG00000016046	ENST00000366795.3:c.2268G>A	6.37:g.168708169C>T			Q2NKJ2|Q569G0|Q8WYW2	Silent	SNP	NULL	p.L756	ENST00000366795.3	37	c.2268	CCDS47519.1	6																																																																																			DACT2	-	NULL	ENSG00000164488		0.647	DACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DACT2	HGNC	protein_coding	OTTHUMT00000043193.1		0.00	51	0	C			168708169	-1			no_errors	ENST00000366795	ensembl	human	known	74_37	silent	9.38	29	3	SNP	0.997	T
DCBLD2	131566	genome.wustl.edu	37	3	98518687	98518688	+	Splice_Site	DEL	TG	TG	-			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:98518687_98518688delTG	ENST00000326840.6	-	16	2221		c.e16-2		DCBLD2_ENST00000326857.9_Splice_Site	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2						cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GAGCATACTCTGTGGATATCAC	0.386																																																	0																																										SO:0001630	splice_region_variant	0				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.1859-2CA>-	3.37:g.98518689_98518690delTG			B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Splice_Site	DEL	-	e16-2	ENST00000326840.6	37	c.1901-3_1901-2	CCDS46878.1	3																																																																																			DCBLD2	-	-	ENSG00000057019		0.386	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCBLD2	HGNC	protein_coding	OTTHUMT00000324675.2		0.00	17	0	TG	NM_080927	Intron	98518688	-1	tier1		no_errors	ENST00000326857	ensembl	human	known	74_37	splice_site_del	17.39	19	4	DEL	1.000:0.993	-
DCDC2	51473	genome.wustl.edu	37	6	24178761	24178761	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:24178761C>T	ENST00000378454.3	-	9	1424	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	DCDC2_ENST00000378450.3_Missense_Mutation_p.E128K	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	375					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CCTCCTTCCTCTTCAAGGTCA	0.512																																																	0													233.0	196.0	208.0					6																	24178761		2203	4300	6503	SO:0001583	missense	0			AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.1123G>A	6.37:g.24178761C>T	ENSP00000367715:p.Glu375Lys		Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.E375K	ENST00000378454.3	37	c.1123	CCDS4550.1	6	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511286	0.44660	.	.	ENSG00000146038	ENST00000378454;ENST00000378450	T;T	0.51574	4.24;0.7	5.36	4.48	0.54585	.	0.370316	0.28665	N	0.014549	T	0.16642	0.0400	N	0.24115	0.695	0.26012	N	0.981975	B;B	0.32829	0.099;0.386	B;B	0.34242	0.025;0.178	T	0.09465	-1.0673	10	0.25106	T	0.35	-0.7659	12.357	0.55182	0.0:0.8302:0.1698:0.0	.	375;128	Q9UHG0;Q9UHG0-2	DCDC2_HUMAN;.	K	375;128	ENSP00000367715:E375K;ENSP00000367711:E128K	ENSP00000367711:E128K	E	-	1	0	DCDC2	24286740	0.848000	0.29623	0.565000	0.28409	0.583000	0.36354	2.466000	0.45084	1.354000	0.45846	0.655000	0.94253	GAG	DCDC2	-	NULL	ENSG00000146038		0.512	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCDC2	HGNC	protein_coding	OTTHUMT00000043604.1	-	0.00	61	0	C	NM_016356		24178761	-1	tier1	-	no_errors	ENST00000378454	ensembl	human	known	74_37	missense	35.29	44	24	SNP	0.736	T
DENND6A	201627	genome.wustl.edu	37	3	57619036	57619036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:57619036G>A	ENST00000311128.5	-	15	1379	c.1309C>T	c.(1309-1311)Cga>Tga	p.R437*	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	437					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										AAATAGCGTCGAAGAATAACA	0.303																																																	0													83.0	86.0	85.0					3																	57619036		2203	4298	6501	SO:0001587	stop_gained	0			AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1309C>T	3.37:g.57619036G>A	ENSP00000311401:p.Arg437*		Q7Z5T4|Q8N235|Q8TEG8	Nonsense_Mutation	SNP	pfam_Afi1_N,pfam_ABL9/DENND6_dom,pfam_DENN_dom	p.R437*	ENST00000311128.5	37	c.1309	CCDS33773.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.565940|5.565940	0.96540|0.96540	.|.	.|.	ENSG00000174839|ENSG00000174839	ENST00000311128|ENST00000471531	.|.	.|.	.|.	5.24|5.24	4.35|4.35	0.52113|0.52113	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.66499	.|0.2795	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71803	.|-0.4482	.|3	0.02654|.	T|.	1|.	-20.2201|-20.2201	15.3356|15.3356	0.74250|0.74250	0.0:0.0:0.8591:0.1409|0.0:0.0:0.8591:0.1409	.|.	.|.	.|.	.|.	X|L	437|8	.|.	ENSP00000311401:R437X|.	R|S	-|-	1|2	2|0	FAM116A|FAM116A	57594076|57594076	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	0.562000|0.562000	0.23531|0.23531	1.264000|1.264000	0.44198|0.44198	0.557000|0.557000	0.71058|0.71058	CGA|TCG	DENND6A	-	pfam_Afi1_N	ENSG00000174839		0.303	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND6A	HGNC	protein_coding	OTTHUMT00000351594.1	-	0.00	63	0	G	NM_152678		57619036	-1	tier1	-	no_errors	ENST00000311128	ensembl	human	known	74_37	nonsense	48.94	24	23	SNP	1.000	A
DLX6	1750	genome.wustl.edu	37	7	96635388	96635388	+	Silent	SNP	A	A	G	rs35692573		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr7:96635388A>G	ENST00000518156.2	+	1	529	c.99A>G	c.(97-99)caA>caG	p.Q33Q	DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000605417.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					agcagcagcaacagcagcagc	0.672																																																	0													5.0	7.0	6.0					7																	96635388		1914	3827	5741	SO:0001819	synonymous_variant	0				CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.99A>G	7.37:g.96635388A>G			A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.Q33	ENST00000518156.2	37	c.99	CCDS47647.2	7																																																																																			DLX6	-	NULL	ENSG00000006377		0.672	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLX6	HGNC	protein_coding	OTTHUMT00000334373.4	-	0.00	80	0	A	NM_005222		96635388	+1	tier1	rs35692573	no_errors	ENST00000518156	ensembl	human	known	74_37	silent	6.02	78	5	SNP	0.996	G
DMXL2	23312	genome.wustl.edu	37	15	51751879	51751880	+	Intron	INS	-	-	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr15:51751879_51751880insA	ENST00000251076.5	-	34	8211				RP11-707P17.2_ENST00000559977.1_RNA|RP11-707P17.2_ENST00000559173.1_RNA|DMXL2_ENST00000543779.2_Intron|DMXL2_ENST00000449909.3_Intron|RP11-707P17.2_ENST00000560727.1_RNA|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CACACCGTCACAAACACAAAAC	0.376																																																	0																																										SO:0001627	intron_variant	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7924-887->T	15.37:g.51751882_51751882dupA			B2RTR3|B7ZMH3|F5GWF1|O94938	RNA	INS	-	NULL	ENST00000251076.5	37	NULL	CCDS10141.1	15																																																																																			DMXL2	-	-	ENSG00000104093		0.376	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2		0.00	35	0	-	NM_015263		51751880	-1	tier1		no_errors	ENST00000558124	ensembl	human	known	74_37	rna	50.00	9	9	INS	1.000:1.000	A
DNAH10OS	642797	genome.wustl.edu	37	12	124418819	124418819	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:124418819C>A	ENST00000514254.2	-	1	712	c.312G>T	c.(310-312)tgG>tgT	p.W104C	DNAH10_ENST00000409039.3_Intron|RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000544798.1_Intron			P0CZ25	D10OS_HUMAN	dynein, axonemal, heavy chain 10 opposite strand	104	Pro-rich.																GCCATGGTGCCCATTCTGACT	0.612																																																	0																																										SO:0001583	missense	0			AK127211		12q24.31	2013-01-23	2010-02-09		ENSG00000250091	ENSG00000250091			37121	protein-coding gene	gene with protein product			"""dynein, axonemal, heavy chain 10 opposite strand"", ""dynein, axonemal, heavy chain 10 opposite strand (non-protein coding)"""			19726446	Standard			Approved	FLJ45278		P0CZ25	OTTHUMG00000162010	ENST00000514254.2:c.312G>T	12.37:g.124418819C>A	ENSP00000422769:p.Trp104Cys			Missense_Mutation	SNP	NULL	p.W104C	ENST00000514254.2	37	c.312		12	.	.	.	.	.	.	.	.	.	.	C	7.851	0.723968	0.15439	.	.	ENSG00000250091	ENST00000514254	.	.	.	3.19	2.23	0.28157	.	.	.	.	.	T	0.39226	0.1070	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.36212	-0.9757	5	0.87932	D	0	.	4.7921	0.13254	0.0:0.7993:0.0:0.2007	.	.	.	.	C	104	.	ENSP00000422769:W104C	W	-	3	0	DNAH10OS	122984772	0.000000	0.05858	0.009000	0.14445	0.551000	0.35334	-0.066000	0.11598	0.798000	0.33994	0.561000	0.74099	TGG	DNAH10OS	-	NULL	ENSG00000250091		0.612	DNAH10OS-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	DNAH10OS	HGNC	protein_coding	OTTHUMT00000366728.3	-	0.00	54	0	C			124418819	-1	tier1	-	no_errors	ENST00000514254	ensembl	human	novel	74_37	missense	5.56	68	4	SNP	0.011	A
DNAH6	1768	genome.wustl.edu	37	2	84912583	84912583	+	Silent	SNP	G	G	C			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:84912583G>C	ENST00000237449.6	+	42	7058	c.7050G>C	c.(7048-7050)ctG>ctC	p.L2350L	DNAH6_ENST00000389394.3_Silent_p.L2350L|DNAH6_ENST00000602588.1_Intron|DNAH6_ENST00000398278.2_Intron			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2350					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATGTTATTCTGACAGAAATGG	0.303																																																	0													99.0	86.0	90.0					2																	84912583		692	1590	2282	SO:0001819	synonymous_variant	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.7050G>C	2.37:g.84912583G>C			A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L2350	ENST00000237449.6	37	c.7050	CCDS46348.1	2																																																																																			DNAH6	-	superfamily_P-loop_NTPase	ENSG00000115423		0.303	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	-	0.00	44	0	G	NM_001370		84912583	+1	tier1	-	no_errors	ENST00000237449	ensembl	human	known	74_37	silent	12.50	35	5	SNP	1.000	C
DNMT1	1786	genome.wustl.edu	37	19	10270336	10270336	+	Silent	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:10270336G>A	ENST00000340748.4	-	16	1465	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	DNMT1_ENST00000359526.4_Silent_p.F426F|DNMT1_ENST00000540357.1_Silent_p.F410F			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	410	DNA replication foci-targeting sequence. {ECO:0000250}.|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GCACTTACCTGAAGCAGGTCA	0.517																																																	0													98.0	85.0	89.0					19																	10270336		2203	4300	6503	SO:0001819	synonymous_variant	0			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1230C>T	19.37:g.10270336G>A			A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.F426	ENST00000340748.4	37	c.1278	CCDS12228.1	19																																																																																			DNMT1	-	pirsf_DNA_C5-MeTrfase_1_euk,pfam_Cytosine_MeTrfase1_RFD	ENSG00000130816		0.517	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1		0.00	47	0	G	NM_001379		10270336	-1			no_errors	ENST00000359526	ensembl	human	known	74_37	silent	6.82	41	3	SNP	1.000	A
DOCK10	55619	genome.wustl.edu	37	2	225658132	225658133	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:225658132_225658133insCT	ENST00000258390.7	-	46	5263_5264	c.5196_5197insAG	c.(5194-5199)gagtatfs	p.Y1733fs	DOCK10_ENST00000409592.3_Frame_Shift_Ins_p.Y1727fs	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1733	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTTTTCAGATACTCTGCAATGA	0.361																																																	0																																										SO:0001589	frameshift_variant	0			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5195_5196dupAG	2.37:g.225658135_225658136dupCT	ENSP00000258390:p.Tyr1733fs		B3FL70|O75178|Q9NW06|Q9NXI8	Frame_Shift_Ins	INS	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Y1732fs	ENST00000258390.7	37	c.5197_5196	CCDS46528.1	2																																																																																			DOCK10	-	superfamily_ARM-type_fold	ENSG00000135905		0.361	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1		0.00	28	0	-			225658133	-1	tier1		no_errors	ENST00000258390	ensembl	human	known	74_37	frame_shift_ins	22.22	21	6	INS	1.000:0.909	CT
DYSF	8291	genome.wustl.edu	37	2	71753404	71753404	+	Silent	SNP	C	C	A	rs370775850		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:71753404C>A	ENST00000258104.3	+	12	1385	c.1108C>A	c.(1108-1110)Cgg>Agg	p.R370R	DYSF_ENST00000409366.1_Silent_p.R371R|DYSF_ENST00000394120.2_Silent_p.R371R|DYSF_ENST00000409651.1_Silent_p.R402R|DYSF_ENST00000410041.1_Silent_p.R402R|DYSF_ENST00000413539.2_Silent_p.R401R|DYSF_ENST00000409582.3_Silent_p.R401R|DYSF_ENST00000409744.1_Silent_p.R371R|DYSF_ENST00000409762.1_Silent_p.R401R|DYSF_ENST00000410020.3_Silent_p.R402R|DYSF_ENST00000429174.2_Silent_p.R370R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	370	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAACCTGCTCCGGCCCACAGG	0.592																																																	0													143.0	156.0	152.0					2																	71753404		2203	4300	6503	SO:0001819	synonymous_variant	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1108C>A	2.37:g.71753404C>A			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.R401	ENST00000258104.3	37	c.1201	CCDS1918.1	2																																																																																			DYSF	-	pfam_FerIin-domain,superfamily_C2_dom	ENSG00000135636		0.592	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	-	0.00	35	0	C	NM_003494		71753404	+1	tier1	-	no_errors	ENST00000413539	ensembl	human	known	74_37	silent	21.88	25	7	SNP	0.816	A
DYSF	8291	genome.wustl.edu	37	2	71892349	71892349	+	Silent	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:71892349C>T	ENST00000258104.3	+	46	5392	c.5115C>T	c.(5113-5115)ttC>ttT	p.F1705F	DYSF_ENST00000409366.1_Silent_p.F1727F|DYSF_ENST00000394120.2_Silent_p.F1706F|DYSF_ENST00000409651.1_Silent_p.F1737F|DYSF_ENST00000410041.1_Silent_p.F1723F|DYSF_ENST00000413539.2_Silent_p.F1736F|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409582.3_Silent_p.F1743F|DYSF_ENST00000409744.1_Silent_p.F1713F|DYSF_ENST00000409762.1_Silent_p.F1722F|DYSF_ENST00000410020.3_Silent_p.F1744F|DYSF_ENST00000429174.2_Silent_p.F1726F	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1705					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCCACCTCTTCTGCCAGCAGC	0.532																																																	0													102.0	103.0	102.0					2																	71892349		2203	4300	6503	SO:0001819	synonymous_variant	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5115C>T	2.37:g.71892349C>T			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.F1736	ENST00000258104.3	37	c.5208	CCDS1918.1	2																																																																																			DYSF	-	NULL	ENSG00000135636		0.532	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	-	0.00	28	0	C	NM_003494		71892349	+1	tier1	-	no_errors	ENST00000413539	ensembl	human	known	74_37	silent	41.18	20	14	SNP	1.000	T
EBP	10682	genome.wustl.edu	37	X	48385361	48385361	+	Intron	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chrX:48385361C>G	ENST00000495186.1	+	3	1124				EBP_ENST00000276096.6_Intron	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)						cholesterol biosynthetic process (GO:0006695)|cholesterol metabolic process (GO:0008203)|drug transmembrane transport (GO:0006855)|hemopoiesis (GO:0030097)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	C-8 sterol isomerase activity (GO:0000247)|cholestenol delta-isomerase activity (GO:0047750)|drug transmembrane transporter activity (GO:0015238)|steroid delta-isomerase activity (GO:0004769)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11					Tamoxifen(DB00675)	TCATATCTCTCTCTTCTTTTC	0.483																																					Ovarian(41;550 1000 33077 33474 52335)												0													150.0	136.0	141.0					X																	48385361		2203	4300	6503	SO:0001627	intron_variant	0			Z37986	CCDS14300.1	Xp11.23-p11.22	2013-05-22	2001-11-28		ENSG00000147155	ENSG00000147155			3133	protein-coding gene	gene with protein product	"""3-beta-hydroxysteroid-delta-8,delta-7-isomerase"", ""Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)"", ""sterol 8-isomerase"""	300205	"""emopamil-binding protein (sterol isomerase)"""	CDPX2		7706302, 8938429	Standard	NM_006579		Approved	CPX, CPXD, CHO2	uc004djx.4	Q15125	OTTHUMG00000034482	ENST00000495186.1:c.302-16C>G	X.37:g.48385361C>G			Q6FGL3|Q6IBI9	RNA	SNP	-	NULL	ENST00000495186.1	37	NULL	CCDS14300.1	X																																																																																			EBP	-	-	ENSG00000147155		0.483	EBP-004	KNOWN	basic|appris_principal|CCDS	protein_coding	EBP	HGNC	protein_coding	OTTHUMT00000083372.1	-	0.00	65	0	C	NM_006579		48385361	+1	tier1	-	no_errors	ENST00000466461	ensembl	human	known	74_37	rna	74.51	13	38	SNP	0.001	G
ENOSF1	55556	genome.wustl.edu	37	18	690729	690730	+	Intron	INS	-	-	T	rs201690054		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr18:690729_690730insT	ENST00000251101.7	-	8	624				ENOSF1_ENST00000340116.7_Intron|ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000319815.6_5'Flank|ENOSF1_ENST00000583973.1_5'Flank|ENOSF1_ENST00000580982.1_Intron	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1						cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GAGTCCAGCTGTTCTCCTGATC	0.545																																																	0																																										SO:0001627	intron_variant	0			X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.536-98->A	18.37:g.690731_690731dupT			A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Frame_Shift_Ins	INS	pfam_Mandelate_racemase_N	p.T147fs	ENST00000251101.7	37	c.440_439	CCDS11822.1	18																																																																																			ENOSF1	-	NULL	ENSG00000132199		0.545	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOSF1	HGNC	protein_coding	OTTHUMT00000254312.2		0.00	8	0	-	NM_017512		690730	-1	tier1		no_errors	ENST00000581475	ensembl	human	known	74_37	frame_shift_ins	41.67	7	5	INS	0.009:0.019	T
XXbac-BPG154L12.4	0	genome.wustl.edu	37	6	32231727	32231727	+	RNA	DEL	T	T	-			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:32231727delT	ENST00000425033.1	+	0	1570																											tctttctttCTtttttttttt	0.308																																																	0										47,334,150,13,1154		6,3,11,0,21,50,38,0,193,3,0,95,4,5,420	92.0	74.0	79.0				0.4	6	dbSNP_134	83	19,831,21,39,2792		3,1,1,0,11,119,3,2,587,0,0,17,7,23,1077	no	intergenic				9,4,12,0,32,169,41,2,780,3,0,112,11,28,1497	A1A1,A1A2,A1A3,A1A4,A1R,A2A2,A2A3,A2A4,A2R,A3A3,A3A4,A3R,A4A4,A4R,RR		24.5813,32.0377,26.9259			32231727	66,1165,171,52,3946	692	1585	2277			0																															6.37:g.32231727delT				RNA	DEL	-	NULL	ENST00000425033.1	37	NULL		6																																																																																			XXbac-BPG154L12.4	-	-	ENSG00000225914		0.308	XXbac-BPG154L12.4-001	KNOWN	basic|exp_conf	antisense	ENSG00000225914	Clone_based_vega_gene	antisense	OTTHUMT00000316882.1		0.00	27	0	T			32231727	+1	tier1		no_errors	ENST00000425033	ensembl	human	known	74_37	rna	11.11	32	4	DEL	0.374	-
RP11-146E13.4	0	genome.wustl.edu	37	14	19856789	19856789	+	lincRNA	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr14:19856789G>A	ENST00000548109.1	+	0	72																											AGAAGTATGTGAAACTTTATA	0.269																																																	0																																												0																															14.37:g.19856789G>A				RNA	SNP	-	NULL	ENST00000548109.1	37	NULL		14																																																																																			CTD-2314B22.3	-	-	ENSG00000244306		0.269	RP11-146E13.4-001	KNOWN	basic	lincRNA	ENSG00000244306	Clone_based_vega_gene	lincRNA	OTTHUMT00000409408.1	-	0.00	101	0	G			19856789	-1	tier1	-	no_errors	ENST00000551334	ensembl	human	known	74_37	rna	12.00	88	12	SNP	0.015	A
RAB1B	81876	genome.wustl.edu	37	11	66039143	66039143	+	Intron	DEL	A	A	-			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr11:66039143delA	ENST00000311481.6	+	2	161				RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Intron	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family						ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						ccttattgctaaaaaaaaaat	0.498																																																	0																																										SO:0001627	intron_variant	0			AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"""RAB, member RAS oncogene"""	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.15-125A>-	11.37:g.66039143delA			A8K7S1	RNA	DEL	-	NULL	ENST00000311481.6	37	NULL	CCDS31613.1	11																																																																																			RP11-867G23.3	-	-	ENSG00000245156		0.498	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000245156	Clone_based_vega_gene	protein_coding	OTTHUMT00000391886.2		0.00	37	0	A	NM_030981		66039143	-1	tier1		no_errors	ENST00000501708	ensembl	human	known	74_37	rna	17.65	14	3	DEL	0.020	-
ERI2	112479	genome.wustl.edu	37	16	20814939	20814939	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:20814939C>G	ENST00000357967.4	-	2	119	c.77G>C	c.(76-78)gGa>gCa	p.G26A	ERI2_ENST00000563117.1_5'UTR|ERI2_ENST00000568251.1_5'Flank|AC004381.6_ENST00000261377.6_5'Flank|ERI2_ENST00000300005.3_Missense_Mutation_p.G26A|ERI2_ENST00000564349.1_5'UTR|AC004381.6_ENST00000348433.6_5'Flank|ERI2_ENST00000389345.5_5'UTR|ERI2_ENST00000569729.1_Missense_Mutation_p.G26A	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	26							exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						TTTGCTTCTTCCGAGATTTCC	0.378																																																	0													88.0	74.0	79.0					16																	20814939		2201	4300	6501	SO:0001583	missense	0			BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"""Enhanced RNAi three prime mRNA exonucleases"""	30541	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)"", ""exoribonuclease 2"", ""zinc finger, GRF-type containing 5"""		"""exonuclease domain containing 1"""	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.77G>C	16.37:g.20814939C>G	ENSP00000350651:p.Gly26Ala		Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Znf_GRF,superfamily_RNaseH-like_dom,smart_Exonuclease	p.G26A	ENST00000357967.4	37	c.77	CCDS45436.1	16	.	.	.	.	.	.	.	.	.	.	C	7.158	0.585077	0.13749	.	.	ENSG00000196678	ENST00000300005;ENST00000357967	T	0.17691	2.26	5.76	0.341	0.15991	.	0.656259	0.16453	N	0.213761	T	0.09247	0.0228	L	0.29908	0.895	0.18873	N	0.999982	B;B;B	0.24721	0.028;0.037;0.11	B;B;B	0.19148	0.012;0.024;0.018	T	0.36432	-0.9748	10	0.18276	T	0.48	-3.9717	5.3993	0.16286	0.0:0.554:0.1339:0.3121	.	26;26;26	A8K979;A8K979-3;A8K979-4	ERI2_HUMAN;.;.	A	26	ENSP00000350651:G26A	ENSP00000300005:G26A	G	-	2	0	ERI2	20722440	0.001000	0.12720	0.001000	0.08648	0.484000	0.33280	0.241000	0.18065	-0.137000	0.11455	-0.136000	0.14681	GGA	ERI2	-	NULL	ENSG00000196678		0.378	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERI2	HGNC	protein_coding		-	0.00	18	0	C	NM_080663		20814939	-1	tier1	-	no_errors	ENST00000357967	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.000	G
FAM131A	131408	genome.wustl.edu	37	3	184062689	184062689	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:184062689A>T	ENST00000310585.4	+	3	2303	c.939A>T	c.(937-939)caA>caT	p.Q313H	FAM131A_ENST00000383847.2_Missense_Mutation_p.Q344H|FAM131A_ENST00000453072.1_Missense_Mutation_p.Q259H|FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000450976.1_Missense_Mutation_p.Q259H|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000340957.5_Missense_Mutation_p.Q259H			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	313						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCAGCGGCAAGCCTCTGACC	0.637																																																	0													24.0	20.0	21.0					3																	184062689		2201	4298	6499	SO:0001583	missense	0			BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.939A>T	3.37:g.184062689A>T	ENSP00000310135:p.Gln313His		D3DNT6|G5E9B1|Q8TA84	Missense_Mutation	SNP	NULL	p.Q344H	ENST00000310585.4	37	c.1032		3	.	.	.	.	.	.	.	.	.	.	a	14.71	2.616845	0.46736	.	.	ENSG00000175182	ENST00000450976;ENST00000340957;ENST00000383847;ENST00000453072;ENST00000310585	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	4.63	3.44	0.39384	.	0.322570	0.28600	N	0.014777	T	0.23451	0.0567	N	0.22421	0.69	0.34102	D	0.662021	P;P	0.49447	0.924;0.924	P;B	0.51135	0.66;0.443	T	0.32188	-0.9916	10	0.72032	D	0.01	-26.278	7.2991	0.26409	0.749:0.0:0.251:0.0	.	313;344	Q6UXB0;G5E9B1	F131A_HUMAN;.	H	259;259;344;259;313	ENSP00000388551:Q259H;ENSP00000340974:Q259H;ENSP00000373360:Q344H;ENSP00000390588:Q259H;ENSP00000310135:Q313H	ENSP00000310135:Q313H	Q	+	3	2	FAM131A	185545383	1.000000	0.71417	0.996000	0.52242	0.664000	0.39144	1.741000	0.38238	0.603000	0.29913	0.482000	0.46254	CAA	FAM131A	-	NULL	ENSG00000175182		0.637	FAM131A-002	KNOWN	basic	protein_coding	FAM131A	HGNC	protein_coding	OTTHUMT00000343462.1	-	0.00	75	0	A	NM_144635		184062689	+1	tier1	-	no_errors	ENST00000383847	ensembl	human	known	74_37	missense	30.12	58	25	SNP	1.000	T
FAM189A1	23359	genome.wustl.edu	37	15	29488677	29488677	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr15:29488677delT	ENST00000261275.4	-	4	478	c.479delA	c.(478-480)aacfs	p.N160fs		NM_015307.1	NP_056122.1	O60320	F1891_HUMAN	family with sequence similarity 189, member A1	160						integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|kidney(1)|lung(1)|stomach(1)	7						CTGCAGCGGGTTCAGCTTCAG	0.562																																																	0													82.0	78.0	79.0					15																	29488677		692	1591	2283	SO:0001589	frameshift_variant	0				CCDS45198.1	15q12	2014-02-12				ENSG00000104059			29075	protein-coding gene	gene with protein product	"""transmembrane protein 228"""					9628581	Standard	NM_015307		Approved	KIAA0574, TMEM228	uc010azk.1	O60320		ENST00000261275.4:c.479delA	15.37:g.29488677delT	ENSP00000261275:p.Asn160fs		A0PK09	Frame_Shift_Del	DEL	pfam_CD20-like	p.N160fs	ENST00000261275.4	37	c.479	CCDS45198.1	15																																																																																			FAM189A1	-	pfam_CD20-like	ENSG00000104059		0.562	FAM189A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189A1	HGNC	protein_coding	OTTHUMT00000417254.1		0.00	33	0	T	NM_015307		29488677	-1	tier1		no_errors	ENST00000261275	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	1.000	-
FAM198B	51313	genome.wustl.edu	37	4	159052052	159052052	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:159052052G>T	ENST00000296530.8	-	4	1859	c.1238C>A	c.(1237-1239)gCa>gAa	p.A413E	FAM198B_ENST00000589306.1_5'UTR|FAM198B_ENST00000393807.5_Missense_Mutation_p.A421E|FAM198B_ENST00000585682.1_Missense_Mutation_p.A413E	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	413						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GATAATGTGTGCTAGAGCCGC	0.413																																																	0													122.0	112.0	116.0					4																	159052052		2203	4300	6503	SO:0001583	missense	0				CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.1238C>A	4.37:g.159052052G>T	ENSP00000296530:p.Ala413Glu		Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	NULL	p.A421E	ENST00000296530.8	37	c.1262	CCDS3798.1	4	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884814	0.33255	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000505460	T;T	0.29397	1.57;1.57	5.86	4.11	0.48088	.	0.539136	0.20269	N	0.095712	T	0.25901	0.0631	L	0.44542	1.39	0.19775	N	0.99995	B;B	0.25772	0.134;0.024	B;B	0.19946	0.027;0.018	T	0.17258	-1.0375	10	0.51188	T	0.08	-31.4192	11.0055	0.47631	0.0666:0.0:0.8025:0.1309	.	421;413	Q6UWH4-2;Q6UWH4	.;F198B_HUMAN	E	413;413;421;119	ENSP00000296530:A413E;ENSP00000377396:A421E	ENSP00000296530:A413E	A	-	2	0	FAM198B	159271502	0.063000	0.20901	0.012000	0.15200	0.721000	0.41392	1.773000	0.38563	1.609000	0.50190	0.650000	0.86243	GCA	FAM198B	-	NULL	ENSG00000164125		0.413	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM198B	HGNC	protein_coding	OTTHUMT00000365230.1	-	0.00	44	0	G	NM_001031700, NM_016613		159052052	-1	tier1	-	no_errors	ENST00000393807	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.060	T
FARP2	9855	genome.wustl.edu	37	2	242407662	242407662	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:242407662G>C	ENST00000264042.3	+	18	2171	c.2001G>C	c.(1999-2001)caG>caC	p.Q667H		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	667	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TTGAGCTGCAGAAGGTCTGCT	0.547																																																	0													134.0	117.0	123.0					2																	242407662		2203	4300	6503	SO:0001583	missense	0			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.2001G>C	2.37:g.242407662G>C	ENSP00000264042:p.Gln667His		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.Q667H	ENST00000264042.3	37	c.2001	CCDS33424.1	2	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805748	0.70682	.	.	ENSG00000006607	ENST00000264042	T	0.63744	-0.06	4.96	4.07	0.47477	Dbl homology (DH) domain (5);	0.127771	0.56097	D	0.000035	D	0.82875	0.5132	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86775	0.1975	10	0.87932	D	0	.	13.7172	0.62705	0.0758:0.0:0.9242:0.0	.	667	O94887	FARP2_HUMAN	H	667	ENSP00000264042:Q667H	ENSP00000264042:Q667H	Q	+	3	2	FARP2	242056335	1.000000	0.71417	0.998000	0.56505	0.629000	0.37895	6.085000	0.71343	1.047000	0.40274	0.655000	0.94253	CAG	FARP2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000006607		0.547	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP2	HGNC	protein_coding	OTTHUMT00000323153.1		0.00	51	0	G			242407662	+1			no_errors	ENST00000264042	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	C
FAT4	79633	genome.wustl.edu	37	4	126239676	126239676	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:126239676G>A	ENST00000394329.3	+	1	2123	c.2110G>A	c.(2110-2112)Gga>Aga	p.G704R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	704	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAATGAGCCTGGAGGTAGCTA	0.463																																																	0													81.0	84.0	83.0					4																	126239676		1998	4199	6197	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2110G>A	4.37:g.126239676G>A	ENSP00000377862:p.Gly704Arg		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G704R	ENST00000394329.3	37	c.2110	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	9.383	1.073395	0.20147	.	.	ENSG00000196159	ENST00000394329	T	0.37235	1.21	5.28	5.28	0.74379	Cadherin (3);Cadherin-like (1);	0.268829	0.18825	U	0.130150	T	0.20901	0.0503	N	0.01505	-0.83	0.80722	D	1	P	0.34699	0.464	B	0.43783	0.431	T	0.30446	-0.9978	10	0.17369	T	0.5	.	14.5429	0.68008	0.0:0.1461:0.8539:0.0	.	704	Q6V0I7	FAT4_HUMAN	R	704	ENSP00000377862:G704R	ENSP00000377862:G704R	G	+	1	0	FAT4	126459126	0.982000	0.34865	1.000000	0.80357	0.860000	0.49131	2.500000	0.45381	2.465000	0.83290	0.655000	0.94253	GGA	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000196159		0.463	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0.00	40	0	G	NM_024582		126239676	+1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	37.84	23	14	SNP	0.972	A
GATA1	2623	genome.wustl.edu	37	X	48650412	48650412	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chrX:48650412G>A	ENST00000376670.3	+	3	493	c.382G>A	c.(382-384)Ggc>Agc	p.G128S	GATA1_ENST00000376665.3_Missense_Mutation_p.G128S	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	128					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GGATGGAAAAGGCAGCACCAG	0.622			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)			Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	2	Unknown(2)	haematopoietic_and_lymphoid_tissue(2)											59.0	50.0	53.0					X																	48650412		2203	4300	6503	SO:0001583	missense	0			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.382G>A	X.37:g.48650412G>A	ENSP00000365858:p.Gly128Ser		Q96GB8	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.G128S	ENST00000376670.3	37	c.382	CCDS14305.1	X	.	.	.	.	.	.	.	.	.	.	G	9.821	1.185668	0.21870	.	.	ENSG00000102145	ENST00000376670;ENST00000376665	D;D	0.97430	-4.38;-4.19	4.46	1.19	0.21007	.	1.384810	0.04313	N	0.349279	D	0.90985	0.7165	N	0.14661	0.345	0.23862	N	0.996638	B	0.02656	0.0	B	0.06405	0.002	T	0.83186	-0.0086	10	0.11794	T	0.64	0.0608	3.2652	0.06863	0.2841:0.0:0.5129:0.203	.	128	P15976	GATA1_HUMAN	S	128	ENSP00000365858:G128S;ENSP00000365853:G128S	ENSP00000365853:G128S	G	+	1	0	GATA1	48535356	1.000000	0.71417	0.006000	0.13384	0.877000	0.50540	3.802000	0.55553	0.086000	0.17137	0.492000	0.49549	GGC	GATA1	-	pirsf_TF_GATA-1/2/3	ENSG00000102145		0.622	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA1	HGNC	protein_coding	OTTHUMT00000056517.1	-	0.00	50	0	G	NM_002049		48650412	+1	tier1	-	no_errors	ENST00000376670	ensembl	human	known	74_37	missense	70.59	10	24	SNP	0.741	A
GIT2	9815	genome.wustl.edu	37	12	110383086	110383086	+	Silent	SNP	C	C	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:110383086C>A	ENST00000355312.3	-	16	1709	c.1710G>T	c.(1708-1710)tcG>tcT	p.S570S	GIT2_ENST00000457474.2_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000338373.5_Silent_p.S472S|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000551209.1_Silent_p.S519S|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000360185.4_Silent_p.S520S|GIT2_ENST00000361006.5_Intron|GIT2_ENST00000354574.4_Intron	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	570					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TTTCGTCCCTCGACCAGGAAA	0.572																																																	0													64.0	58.0	60.0					12																	110383086		2203	4300	6503	SO:0001819	synonymous_variant	0			AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1710G>T	12.37:g.110383086C>A			Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Silent	SNP	pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP	p.S570	ENST00000355312.3	37	c.1710	CCDS9138.1	12																																																																																			GIT2	-	NULL	ENSG00000139436		0.572	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIT2	HGNC	protein_coding	OTTHUMT00000403407.1	-	0.00	25	0	C	NM_057169		110383086	-1	tier1	-	no_errors	ENST00000355312	ensembl	human	known	74_37	silent	46.67	16	14	SNP	0.411	A
GPR111	222611	genome.wustl.edu	37	6	47647898	47647898	+	Frame_Shift_Del	DEL	A	A	-	rs200398248		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:47647898delA	ENST00000296862.1	+	5	563	c.563delA	c.(562-564)caafs	p.Q188fs	GPR111_ENST00000507065.1_Frame_Shift_Del_p.Q120fs|GPR111_ENST00000398742.2_Frame_Shift_Del_p.Q120fs			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	188					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						ATGTTGCTACAAAAGTGTCCC	0.378																																																	0													104.0	97.0	99.0					6																	47647898		1864	4105	5969	SO:0001589	frameshift_variant	0			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.563delA	6.37:g.47647898delA	ENSP00000296862:p.Gln188fs		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Frame_Shift_Del	DEL	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.K189fs	ENST00000296862.1	37	c.563		6																																																																																			GPR111	-	NULL	ENSG00000164393		0.378	GPR111-001	KNOWN	basic	protein_coding	GPR111	HGNC	protein_coding	OTTHUMT00000106423.2		0.00	36	0	A	NM_153839		47647898	+1	tier1		no_errors	ENST00000296862	ensembl	human	known	74_37	frame_shift_del	6.67	28	2	DEL	0.000	-
GJA1	2697	genome.wustl.edu	37	6	121768356	121768356	+	Silent	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:121768356C>T	ENST00000282561.3	+	2	520	c.363C>T	c.(361-363)gtC>gtT	p.V121V		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	121					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CTGATGGTGTCAATGTGGACA	0.453																																																	0													124.0	114.0	118.0					6																	121768356		2203	4300	6503	SO:0001819	synonymous_variant	0			BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.363C>T	6.37:g.121768356C>T			B2R5U9|Q6FHU1|Q9Y5I8	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43	p.V121	ENST00000282561.3	37	c.363	CCDS5123.1	6																																																																																			GJA1	-	NULL	ENSG00000152661		0.453	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA1	HGNC	protein_coding	OTTHUMT00000042023.1	-	0.00	62	0	C	NM_000165		121768356	+1	tier1	-	no_errors	ENST00000282561	ensembl	human	known	74_37	silent	35.62	47	26	SNP	0.265	T
GREB1	9687	genome.wustl.edu	37	2	11696879	11696879	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:11696879C>A	ENST00000381486.2	+	2	439	c.139C>A	c.(139-141)Cag>Aag	p.Q47K	GREB1_ENST00000263834.5_Missense_Mutation_p.Q47K|GREB1_ENST00000389825.3_Intron|GREB1_ENST00000234142.5_Missense_Mutation_p.Q47K|GREB1_ENST00000381483.2_Missense_Mutation_p.Q47K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	47						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGCTGAGCAGCAGCTTGCCGC	0.493																																					Ovarian(39;850 945 2785 23371 33093)												0													71.0	63.0	65.0					2																	11696879		2203	4300	6503	SO:0001583	missense	0				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.139C>A	2.37:g.11696879C>A	ENSP00000370896:p.Gln47Lys		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.Q47K	ENST00000381486.2	37	c.139	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651769	0.47362	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000381483;ENST00000234142	T;T;T;T	0.17213	3.3;2.29;2.3;3.3	4.71	4.71	0.59529	.	0.431663	0.23908	N	0.043380	T	0.34978	0.0916	L	0.51422	1.61	0.41469	D	0.988098	D;P;D	0.67145	0.981;0.952;0.996	P;P;D	0.72982	0.761;0.474;0.979	T	0.03898	-1.0994	10	0.19590	T	0.45	.	18.0012	0.89198	0.0:1.0:0.0:0.0	.	47;47;47	Q4ZG55-2;Q4ZG55-3;Q4ZG55	.;.;GREB1_HUMAN	K	47	ENSP00000370896:Q47K;ENSP00000263834:Q47K;ENSP00000370892:Q47K;ENSP00000234142:Q47K	ENSP00000234142:Q47K	Q	+	1	0	GREB1	11614330	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	2.104000	0.41815	2.329000	0.79093	0.655000	0.94253	CAG	GREB1	-	NULL	ENSG00000196208		0.493	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	-	0.00	89	0	C	NM_014668		11696879	+1	tier1	-	no_errors	ENST00000234142	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	A
GTPBP2	54676	genome.wustl.edu	37	6	43588627	43588627	+	3'UTR	SNP	T	T	C			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:43588627T>C	ENST00000307126.5	-	0	2532				GTPBP2_ENST00000476510.1_5'UTR	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GCAGCTGGCCTTTGGTATATG	0.537																																					GBM(116;405 1620 28302 32150 44768)												0																																										SO:0001624	3_prime_UTR_variant	0			AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.*724A>G	6.37:g.43588627T>C				RNA	SNP	-	NULL	ENST00000307126.5	37	NULL	CCDS4903.1	6																																																																																			GTPBP2	-	-	ENSG00000172432		0.537	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP2	HGNC	protein_coding	OTTHUMT00000040679.1	-	0.00	31	0	T			43588627	-1	tier1	-	no_errors	ENST00000476510	ensembl	human	known	74_37	rna	33.33	18	9	SNP	0.798	C
GRIK2	2898	genome.wustl.edu	37	6	102376504	102376504	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:102376504C>G	ENST00000421544.1	+	13	2572	c.2082C>G	c.(2080-2082)ttC>ttG	p.F694L	GRIK2_ENST00000413795.1_Missense_Mutation_p.F694L|GRIK2_ENST00000369138.1_Missense_Mutation_p.F694L|GRIK2_ENST00000369134.4_Missense_Mutation_p.F645L|GRIK2_ENST00000369137.3_Missense_Mutation_p.F618L|GRIK2_ENST00000318991.6_Missense_Mutation_p.F694L	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	694					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGACTTTTTTCAAGGTAAGTT	0.373																																																	0													69.0	66.0	67.0					6																	102376504		2203	4300	6503	SO:0001583	missense	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2082C>G	6.37:g.102376504C>G	ENSP00000397026:p.Phe694Leu		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.F694L	ENST00000421544.1	37	c.2082	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197532	0.58126	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134	T;T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02;3.02	5.9	3.79	0.43588	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.16599	0.0399	M	0.76328	2.33	0.43766	D	0.996287	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.00626	-1.1638	10	0.87932	D	0	.	9.5959	0.39573	0.0:0.6931:0.0:0.3069	.	694;694;694	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	L	694;694;694;618;694;645	ENSP00000397026:F694L;ENSP00000405596:F694L;ENSP00000358134:F694L;ENSP00000358133:F618L;ENSP00000313276:F694L;ENSP00000358130:F645L	ENSP00000313276:F694L	F	+	3	2	GRIK2	102483197	0.994000	0.37717	1.000000	0.80357	0.969000	0.65631	0.444000	0.21661	1.465000	0.48006	0.563000	0.77884	TTC	GRIK2	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000164418		0.373	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1	-	0.00	25	0	C			102376504	+1	tier1	-	no_errors	ENST00000421544	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	G
GUCY1A3	2982	genome.wustl.edu	37	4	156632055	156632055	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:156632055G>T	ENST00000296518.7	+	6	947	c.738G>T	c.(736-738)gaG>gaT	p.E246D	GUCY1A3_ENST00000511108.1_Missense_Mutation_p.E246D|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.E246D|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.E246D|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.E246D|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.E246D			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	246					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATTGCAGCGAGTTTGTGAATC	0.493																																																	0													126.0	118.0	121.0					4																	156632055		2203	4300	6503	SO:0001583	missense	0				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.738G>T	4.37:g.156632055G>T	ENSP00000296518:p.Glu246Asp		D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.E246D	ENST00000296518.7	37	c.738	CCDS34085.1	4	.	.	.	.	.	.	.	.	.	.	G	9.894	1.204925	0.22205	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.77;-1.91;-1.91;-1.91	5.76	1.49	0.22878	.	0.086995	0.49305	D	0.000154	T	0.75517	0.3860	L	0.48362	1.52	0.33152	D	0.545854	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.66368	-0.5941	10	0.19590	T	0.45	.	6.8838	0.24189	0.2377:0.2315:0.5308:0.0	.	246;246;246	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	D	246	ENSP00000424361:E246D;ENSP00000421493:E246D;ENSP00000426968:E246D;ENSP00000412201:E246D;ENSP00000296518:E246D;ENSP00000426040:E246D	ENSP00000296518:E246D	E	+	3	2	GUCY1A3	156851505	1.000000	0.71417	0.311000	0.25182	0.655000	0.38815	0.970000	0.29383	0.280000	0.22209	0.643000	0.83706	GAG	GUCY1A3	-	superfamily_NO_sig/Golgi_transp_ligand-bd	ENSG00000164116		0.493	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCY1A3	HGNC	protein_coding	OTTHUMT00000365786.2	-	0.00	30	0	G			156632055	+1	tier1	-	no_errors	ENST00000296518	ensembl	human	known	74_37	missense	46.34	22	19	SNP	0.973	T
GUCY1B3	2983	genome.wustl.edu	37	4	156724916	156724916	+	Splice_Site	SNP	G	G	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:156724916G>T	ENST00000264424.8	+	11	1636	c.1554G>T	c.(1552-1554)caG>caT	p.Q518H	GUCY1B3_ENST00000507146.1_Splice_Site_p.Q493H|GUCY1B3_ENST00000505154.1_Splice_Site_p.Q450H|GUCY1B3_ENST00000505764.1_Splice_Site_p.Q498H|GUCY1B3_ENST00000513437.1_Splice_Site_p.Q450H|GUCY1B3_ENST00000502959.1_Splice_Site_p.Q540H|GUCY1B3_ENST00000503520.1_Splice_Site_p.Q485H	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	518	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AATCTGTTCAGGTTAGTAAAT	0.403																																																	0													65.0	67.0	66.0					4																	156724916		1907	4137	6044	SO:0001630	splice_region_variant	0			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1554+1G>T	4.37:g.156724916G>T			B7Z426|Q86WY5	Missense_Mutation	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.Q518H	ENST00000264424.8	37	c.1554	CCDS47154.1	4	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970174	0.74246	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	D;D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	5.61	5.61	0.85477	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.84795	0.5551	M	0.73372	2.23	0.80722	D	1	P;P;B;B;B	0.34639	0.456;0.461;0.295;0.401;0.112	B;B;B;B;B	0.42851	0.306;0.4;0.19;0.204;0.306	T	0.83148	-0.0105	10	0.44086	T	0.13	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	498;540;493;485;518	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	H	450;540;498;493;518;485;450	ENSP00000427226:Q450H;ENSP00000426786:Q540H;ENSP00000426319:Q498H;ENSP00000422313:Q493H;ENSP00000264424:Q518H;ENSP00000420842:Q485H;ENSP00000425065:Q450H	ENSP00000264424:Q518H	Q	+	3	2	GUCY1B3	156944366	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.942000	0.87708	2.793000	0.96121	0.655000	0.94253	CAG	GUCY1B3	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000061918		0.403	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY1B3	HGNC	protein_coding	OTTHUMT00000365770.2	-	0.00	42	0	G		Missense_Mutation	156724916	+1	tier1	-	no_errors	ENST00000264424	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T
GUSBP1	728411	genome.wustl.edu	37	5	21491581	21491581	+	RNA	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr5:21491581G>A	ENST00000607545.1	+	0	179					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										GGCCGTACCTGATGCACGAAC	0.552																																																	0																																												0			BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21491581G>A			A6NLY8|A8K1B7|Q969T8|Q9BUH2	RNA	SNP	-	NULL	ENST00000607545.1	37	NULL		5																																																																																			GUSBP1	-	-	ENSG00000183666		0.552	GUSBP1-006	KNOWN	basic	processed_transcript	GUSBP1	HGNC	pseudogene	OTTHUMT00000470546.1	-	0.00	1098	0	G	NG_008324		21491581	+1	tier1	-	no_errors	ENST00000508260	ensembl	human	known	74_37	rna	6.64	984	70	SNP	1.000	A
HAL	3034	genome.wustl.edu	37	12	96387577	96387577	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:96387577C>G	ENST00000261208.3	-	7	892	c.524G>C	c.(523-525)aGa>aCa	p.R175T	HAL_ENST00000541929.1_Intron|HAL_ENST00000538703.1_Missense_Mutation_p.R175T|RP11-256L6.3_ENST00000551849.1_RNA	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	175					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	AATTACAGTTCTGGCAAATTT	0.299																																					NSCLC(169;943 2815 23563 30031)												0													73.0	79.0	77.0					12																	96387577		2203	4300	6503	SO:0001583	missense	0				CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.524G>C	12.37:g.96387577C>G	ENSP00000261208:p.Arg175Thr		B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH	p.R175T	ENST00000261208.3	37	c.524	CCDS9058.1	12	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075759	0.36662	.	.	ENSG00000084110	ENST00000261208;ENST00000538703;ENST00000546579	T;T;T	0.75821	-0.97;-0.97;-0.97	5.49	4.61	0.57282	L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.093828	0.85682	D	0.000000	T	0.56292	0.1975	N	0.10618	0.005	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.14023	0.007;0.01	T	0.52223	-0.8604	10	0.38643	T	0.18	-9.3943	14.413	0.67128	0.0:0.9289:0.0:0.0711	.	175;175	F5GXF2;P42357	.;HUTH_HUMAN	T	175;175;85	ENSP00000261208:R175T;ENSP00000440861:R175T;ENSP00000447543:R85T	ENSP00000261208:R175T	R	-	2	0	HAL	94911708	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	4.554000	0.60760	1.462000	0.47948	0.561000	0.74099	AGA	HAL	-	pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH	ENSG00000084110		0.299	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAL	HGNC	protein_coding	OTTHUMT00000408644.1	-	0.00	33	0	C			96387577	-1	tier1	-	no_errors	ENST00000261208	ensembl	human	known	74_37	missense	12.24	43	6	SNP	1.000	G
HCN3	57657	genome.wustl.edu	37	1	155247568	155247568	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:155247568C>T	ENST00000368358.3	+	1	195	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	HCN3_ENST00000496230.1_3'UTR|CLK2_ENST00000536801.1_5'Flank	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	63	Involved in subunit assembly. {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTTCTCCCTTCGGGTGTTCGG	0.622																																																	0													23.0	24.0	23.0					1																	155247568		2202	4298	6500	SO:0001583	missense	0			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.187C>T	1.37:g.155247568C>T	ENSP00000357342:p.Arg63Trp		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.R63W	ENST00000368358.3	37	c.187	CCDS1108.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.673480	0.96754	.	.	ENSG00000143630	ENST00000368358	T	0.80033	-1.33	5.2	5.2	0.72013	Ion transport N-terminal (1);	0.000000	0.43579	D	0.000551	D	0.88537	0.6463	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.89767	0.3951	10	0.87932	D	0	.	16.583	0.84719	0.0:1.0:0.0:0.0	.	63	Q9P1Z3	HCN3_HUMAN	W	63	ENSP00000357342:R63W	ENSP00000357342:R63W	R	+	1	2	HCN3	153514192	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.364000	0.44187	2.588000	0.87417	0.491000	0.48974	CGG	HCN3	-	pfam_Ion_trans_N	ENSG00000143630		0.622	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN3	HGNC	protein_coding	OTTHUMT00000087388.1	-	0.00	70	0	C	NM_020897		155247568	+1	tier1	-	no_errors	ENST00000368358	ensembl	human	known	74_37	missense	15.49	60	11	SNP	1.000	T
HDLBP	3069	genome.wustl.edu	37	2	242207945	242207945	+	5'UTR	SNP	T	T	C			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:242207945T>C	ENST00000391975.1	-	0	137				HDLBP_ENST00000427183.2_5'UTR|HDLBP_ENST00000391976.2_5'UTR|HDLBP_ENST00000310931.4_5'UTR	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein						cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TCTGTCAGCCTGCCAGCTTTT	0.502																																																	0																																										SO:0001623	5_prime_UTR_variant	0				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.-91A>G	2.37:g.242207945T>C			B4DTQ2|E7EM71|Q53QU2|Q9UCY3	RNA	SNP	-	NULL	ENST00000391975.1	37	NULL	CCDS2547.1	2																																																																																			HDLBP	-	-	ENSG00000115677		0.502	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	-	0.00	47	0	T	NM_203346		242207945	-1	tier1	-	no_errors	ENST00000462130	ensembl	human	known	74_37	rna	23.64	42	13	SNP	1.000	C
HLF	3131	genome.wustl.edu	37	17	53398174	53398174	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr17:53398174G>C	ENST00000226067.5	+	4	1295	c.822G>C	c.(820-822)ttG>ttC	p.L274F	HLF_ENST00000573945.1_Missense_Mutation_p.L189F|HLF_ENST00000575345.1_Missense_Mutation_p.L189F|HLF_ENST00000430986.2_Missense_Mutation_p.L189F|HLF_ENST00000575307.1_3'UTR	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	274	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(2)	3						TGGCTGACTTGAGGAAGGAGC	0.592			T	TCF3	ALL																																			Dom	yes		17	17q22	3131	hepatic leukemia factor		L	0													31.0	31.0	31.0					17																	53398174		2203	4300	6503	SO:0001583	missense	0				CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.822G>C	17.37:g.53398174G>C	ENSP00000226067:p.Leu274Phe		A8K1X8|Q6FHS9	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.L274F	ENST00000226067.5	37	c.822	CCDS11585.1	17	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465504	0.63513	.	.	ENSG00000108924	ENST00000226067;ENST00000430986	T;T	0.53423	0.62;0.62	5.77	2.54	0.30619	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.64402	D	0.000004	T	0.67711	0.2922	M	0.92219	3.285	0.80722	D	1	P;D	0.58268	0.887;0.982	P;P	0.60473	0.733;0.875	T	0.69767	-0.5056	10	0.87932	D	0	.	6.7328	0.23393	0.1538:0.0:0.7027:0.1435	.	222;274	B4DIQ5;Q16534	.;HLF_HUMAN	F	274;189	ENSP00000226067:L274F;ENSP00000402496:L189F	ENSP00000226067:L274F	L	+	3	2	HLF	50753173	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.071000	0.30666	0.773000	0.33404	0.655000	0.94253	TTG	HLF	-	pfam_bZIP,smart_bZIP,pfscan_bZIP	ENSG00000108924		0.592	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLF	HGNC	protein_coding	OTTHUMT00000439185.1		0.00	48	0	G	NM_002126		53398174	+1			no_errors	ENST00000226067	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	C
HMCN1	83872	genome.wustl.edu	37	1	185985332	185985332	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:185985332G>T	ENST00000271588.4	+	32	5381	c.5152G>T	c.(5152-5154)Gca>Tca	p.A1718S	HMCN1_ENST00000367492.2_Missense_Mutation_p.A1718S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1718	Ig-like C2-type 14.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TACCAGTGTGGCAGGAGAAAA	0.418																																																	0													100.0	93.0	96.0					1																	185985332		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5152G>T	1.37:g.185985332G>T	ENSP00000271588:p.Ala1718Ser		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.A1718S	ENST00000271588.4	37	c.5152	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.414441	0.96092	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68331	-0.32;-0.32	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83161	0.5194	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.78853	-0.2040	10	0.28530	T	0.3	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1718	Q96RW7	HMCN1_HUMAN	S	1718	ENSP00000271588:A1718S;ENSP00000356462:A1718S	ENSP00000271588:A1718S	A	+	1	0	HMCN1	184251955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.041000	0.93788	2.941000	0.99782	0.655000	0.94253	GCA	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0.00	59	0	G	NM_031935		185985332	+1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T
HRASLS	57110	genome.wustl.edu	37	3	192980950	192980950	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:192980950G>C	ENST00000602513.1	+	3	740	c.331G>C	c.(331-333)Gcc>Ccc	p.A111P	HRASLS_ENST00000264735.2_Missense_Mutation_p.A216P			Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	111					ether lipid metabolic process (GO:0046485)|lipid catabolic process (GO:0016042)|peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|nuclear envelope lumen (GO:0005641)|peroxisome (GO:0005777)	phospholipase activity (GO:0004620)|transferase activity (GO:0016740)			breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		ACAGGAGGTGGCCTATAACTT	0.398																																																	0													104.0	107.0	106.0					3																	192980950		2203	4300	6503	SO:0001583	missense	0			AB030816	CCDS3303.1, CCDS3303.2	3q29	2008-05-15			ENSG00000127252	ENSG00000127252			14922	protein-coding gene	gene with protein product		606487					Standard	NM_020386		Approved	H-REV107, HRASLS1	uc003fta.4	Q9HDD0	OTTHUMG00000156104	ENST00000602513.1:c.331G>C	3.37:g.192980950G>C	ENSP00000473258:p.Ala111Pro		D2KX19	Missense_Mutation	SNP	pfam_LRAT-like_dom	p.A216P	ENST00000602513.1	37	c.646		3	.	.	.	.	.	.	.	.	.	.	G	3.841	-0.033863	0.07543	.	.	ENSG00000127252	ENST00000264735	.	.	.	5.87	-0.199	0.13220	NC (1);	0.434432	0.27231	N	0.020316	T	0.10680	0.0261	N	0.01522	-0.82	0.27129	N	0.96195	B	0.02656	0.0	B	0.04013	0.001	T	0.27400	-1.0075	9	0.21014	T	0.42	-8.5533	6.5224	0.22283	0.0695:0.0956:0.2161:0.6187	.	111	Q9HDD0	HRSL1_HUMAN	P	111	.	ENSP00000264735:A111P	A	+	1	0	HRASLS	194463644	0.973000	0.33851	0.220000	0.23810	0.032000	0.12392	0.899000	0.28417	0.122000	0.18314	-0.182000	0.12963	GCC	HRASLS	-	pfam_LRAT-like_dom	ENSG00000127252		0.398	HRASLS-201	KNOWN	basic|appris_principal	protein_coding	HRASLS	HGNC	protein_coding		-	0.00	67	0	G			192980950	+1	tier1	-	no_errors	ENST00000264735	ensembl	human	known	74_37	missense	22.73	68	20	SNP	0.754	C
ICT1	3396	genome.wustl.edu	37	17	73008936	73008936	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr17:73008936C>G	ENST00000301585.5	+	1	168	c.155C>G	c.(154-156)tCt>tGt	p.S52C		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	52					mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					TACCCCGAATCTCAGGGCTCG	0.652											OREG0024724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													34.0	31.0	32.0					17																	73008936		2202	4300	6502	SO:0001583	missense	0			X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.155C>G	17.37:g.73008936C>G	ENSP00000301585:p.Ser52Cys	1142	B2RAD1|Q53HM7|Q53Y11	Missense_Mutation	SNP	pfam_Pep_chain_release_fac_I_II	p.S52C	ENST00000301585.5	37	c.155	CCDS11711.1	17	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781805	0.31502	.	.	ENSG00000167862	ENST00000301585	T	0.30448	1.53	5.52	4.55	0.56014	.	0.300981	0.28241	N	0.016062	T	0.35008	0.0917	L	0.34521	1.04	0.09310	N	1	D	0.59767	0.986	P	0.53722	0.733	T	0.14587	-1.0467	10	0.87932	D	0	-10.9843	12.0363	0.53427	0.0:0.9202:0.0:0.0798	.	52	Q14197	ICT1_HUMAN	C	52	ENSP00000301585:S52C	ENSP00000301585:S52C	S	+	2	0	ICT1	70520531	0.244000	0.23889	0.205000	0.23548	0.919000	0.55068	1.382000	0.34374	1.335000	0.45486	-0.122000	0.15005	TCT	ICT1	-	NULL	ENSG00000167862		0.652	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICT1	HGNC	protein_coding	OTTHUMT00000445314.1	-	0.00	24	0	C	NM_001545		73008936	+1	tier1	-	no_errors	ENST00000301585	ensembl	human	known	74_37	missense	50.00	7	7	SNP	0.103	G
IGSF6	10261	genome.wustl.edu	37	16	21658708	21658708	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:21658708C>A	ENST00000268389.4	-	2	234	c.173G>T	c.(172-174)tGc>tTc	p.C58F	METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	58	Ig-like C2-type.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		CTCAGAAGGGCATCCGGTTGC	0.547																																																	0													132.0	102.0	112.0					16																	21658708		2199	4300	6499	SO:0001583	missense	0			AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"""Immunoglobulin superfamily / V-set domain containing"""	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.173G>T	16.37:g.21658708C>A	ENSP00000268389:p.Cys58Phe		Q8WWD8	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.C58F	ENST00000268389.4	37	c.173	CCDS10599.1	16	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410086	0.42715	.	.	ENSG00000140749	ENST00000268389	T	0.39229	1.09	5.33	5.33	0.75918	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	M	0.64997	1.995	0.48975	D	0.999739	D	0.89917	1.0	D	0.91635	0.999	T	0.63985	-0.6513	10	0.87932	D	0	-13.9298	14.8754	0.70491	0.0:1.0:0.0:0.0	.	58	O95976	IGSF6_HUMAN	F	58	ENSP00000268389:C58F	ENSP00000268389:C58F	C	-	2	0	IGSF6	21566209	1.000000	0.71417	0.709000	0.30452	0.022000	0.10575	5.293000	0.65680	2.653000	0.90120	0.650000	0.86243	TGC	IGSF6	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000140749		0.547	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF6	HGNC	protein_coding	OTTHUMT00000207400.1	-	0.00	78	0	C			21658708	-1	tier1	-	no_errors	ENST00000268389	ensembl	human	known	74_37	missense	38.03	44	27	SNP	0.990	A
IL17RA	23765	genome.wustl.edu	37	22	17578725	17578725	+	Silent	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr22:17578725C>T	ENST00000319363.6	+	3	335	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	68					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCCTCGAAACCTGACCCCCTC	0.572																																																	0													116.0	88.0	97.0					22																	17578725		2203	4300	6503	SO:0001819	synonymous_variant	0			U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.202C>T	22.37:g.17578725C>T			O43844|Q20WK1	Silent	SNP	pfam_SEFIR	p.L68	ENST00000319363.6	37	c.202	CCDS13739.1	22																																																																																			IL17RA	-	NULL	ENSG00000177663		0.572	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RA	HGNC	protein_coding	OTTHUMT00000315820.1	-	0.00	61	0	C	NM_014339		17578725	+1	tier1	-	no_errors	ENST00000319363	ensembl	human	known	74_37	silent	36.00	32	18	SNP	0.393	T
IRX5	10265	genome.wustl.edu	37	16	54966749	54966749	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:54966749G>C	ENST00000394636.4	+	2	926	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Missense_Mutation_p.E131Q|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000320990.5_Missense_Mutation_p.E197Q			P78411	IRX5_HUMAN	iroquois homeobox 5	197					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CATTGACCTGGAGAAGAACGA	0.637																																																	0													76.0	89.0	84.0					16																	54966749		2198	4300	6498	SO:0001583	missense	0			U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.589G>C	16.37:g.54966749G>C	ENSP00000378132:p.Glu197Gln		H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.E197Q	ENST00000394636.4	37	c.589	CCDS10751.1	16	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065960	0.76187	.	.	ENSG00000176842	ENST00000394636;ENST00000320990	T;T	0.62364	0.05;0.03	4.14	4.14	0.48551	.	0.774306	0.12332	N	0.478272	T	0.70833	0.3269	L	0.49126	1.545	0.80722	D	1	D	0.69078	0.997	P	0.58577	0.841	T	0.68337	-0.5435	10	0.39692	T	0.17	-17.3162	15.3232	0.74139	0.0:0.0:1.0:0.0	.	197	P78411	IRX5_HUMAN	Q	197	ENSP00000378132:E197Q;ENSP00000316250:E197Q	ENSP00000316250:E197Q	E	+	1	0	IRX5	53524250	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.663000	0.83820	2.123000	0.65237	0.655000	0.94253	GAG	IRX5	-	NULL	ENSG00000176842		0.637	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IRX5	HGNC	protein_coding	OTTHUMT00000256911.2	-	0.00	80	0	G			54966749	+1	tier1	-	no_errors	ENST00000394636	ensembl	human	known	74_37	missense	28.07	41	16	SNP	1.000	C
JPH4	84502	genome.wustl.edu	37	14	24041033	24041033	+	Silent	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr14:24041033C>T	ENST00000397118.3	-	5	2150	c.1248G>A	c.(1246-1248)ctG>ctA	p.L416L	JPH4_ENST00000544177.1_Silent_p.L81L|JPH4_ENST00000356300.4_Silent_p.L416L	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	416					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCATGGGCTGCAGGTCCTGGG	0.632																																																	0													89.0	83.0	85.0					14																	24041033		2203	4300	6503	SO:0001819	synonymous_variant	0			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1248G>A	14.37:g.24041033C>T			D3DS53|Q8ND44|Q96DQ0	Silent	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.L416	ENST00000397118.3	37	c.1248	CCDS9603.1	14																																																																																			JPH4	-	pirsf_Junctophilin	ENSG00000092051		0.632	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	JPH4	HGNC	protein_coding	OTTHUMT00000413853.1	-	0.00	57	0	C	NM_032452		24041033	-1	tier1	-	no_errors	ENST00000356300	ensembl	human	known	74_37	silent	11.43	31	4	SNP	1.000	T
KIAA0196	9897	genome.wustl.edu	37	8	126062872	126062872	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr8:126062872C>G	ENST00000318410.7	-	18	2482	c.2133G>C	c.(2131-2133)agG>agC	p.R711S	KIAA0196_ENST00000517845.1_Missense_Mutation_p.R563S	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	711					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAAGCTCTTTCCTTATTCCAT	0.468																																																	0													144.0	128.0	133.0					8																	126062872		2203	4300	6503	SO:0001583	missense	0				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2133G>C	8.37:g.126062872C>G	ENSP00000318016:p.Arg711Ser		A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	pfam_WASH_strumpellin,superfamily_Ig_E-set	p.R711S	ENST00000318410.7	37	c.2133	CCDS6355.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.362025|4.362025	0.82353|0.82353	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000523273|ENST00000318410;ENST00000517845	.|D;D	.|0.89875	.|-2.58;-2.58	5.3|5.3	3.5|3.5	0.40072|0.40072	.|.	.|0.041017	.|0.85682	.|D	.|0.000000	D|D	0.94584|0.94584	0.8255|0.8255	M|M	0.88310|0.88310	2.945|2.945	0.80722|0.80722	D|D	1|1	.|D;B	.|0.89917	.|1.0;0.258	.|D;B	.|0.91635	.|0.999;0.098	D|D	0.94385|0.94385	0.7608|0.7608	5|10	.|0.72032	.|D	.|0.01	-16.5532|-16.5532	11.8225|11.8225	0.52247|0.52247	0.0:0.8571:0.0:0.1429|0.0:0.8571:0.0:0.1429	.|.	.|563;711	.|E7EQI7;Q12768	.|.;STRUM_HUMAN	A|S	328|711;563	.|ENSP00000318016:R711S;ENSP00000429676:R563S	.|ENSP00000318016:R711S	G|R	-|-	2|3	0|2	KIAA0196|KIAA0196	126132054|126132054	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	4.876000|4.876000	0.63079|0.63079	0.733000|0.733000	0.32492|0.32492	0.655000|0.655000	0.94253|0.94253	GGA|AGG	KIAA0196	-	pfam_WASH_strumpellin	ENSG00000164961		0.468	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0196	HGNC	protein_coding	OTTHUMT00000381369.1	-	0.00	32	0	C	NM_014846		126062872	-1	tier1	-	no_errors	ENST00000318410	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	G
KIAA1024L	100127206	genome.wustl.edu	37	5	129100730	129100730	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr5:129100730G>T	ENST00000564719.1	+	3	659	c.547G>T	c.(547-549)Gtg>Ttg	p.V183L	KIAA1024L_ENST00000334562.1_Missense_Mutation_p.V100L|CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA	NM_001257308.1	NP_001244237.1	P59773	K102L_HUMAN	KIAA1024-like	183						integral component of membrane (GO:0016021)											GGTTACCATAGTGACTATCAT	0.353																																																	0																																										SO:0001583	missense	0				CCDS58966.1	5q23.3	2013-01-16			ENSG00000186367	ENSG00000186367			33914	protein-coding gene	gene with protein product							Standard	NM_001257308		Approved		uc031skx.1	P59773	OTTHUMG00000163041	ENST00000564719.1:c.547G>T	5.37:g.129100730G>T	ENSP00000454268:p.Val183Leu		H3BM78	Missense_Mutation	SNP	pfam_UPF0258	p.V183L	ENST00000564719.1	37	c.547	CCDS58966.1	5																																																																																			KIAA1024L	-	pfam_UPF0258	ENSG00000186367		0.353	KIAA1024L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1024L	HGNC	protein_coding	OTTHUMT00000371450.2	-	0.00	53	0	G	NM_001257308		129100730	+1	tier1	-	no_errors	ENST00000564719	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T
KIAA1244	57221	genome.wustl.edu	37	6	138607140	138607140	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:138607140C>G	ENST00000251691.4	+	15	2685	c.2519C>G	c.(2518-2520)aCa>aGa	p.T840R		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCGGCTGCTACAGAGTCTCCT	0.463																																																	0													87.0	82.0	83.0					6																	138607140		2203	4300	6503	SO:0001583	missense	0			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2519C>G	6.37:g.138607140C>G	ENSP00000251691:p.Thr840Arg			Missense_Mutation	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom	p.T840R	ENST00000251691.4	37	c.2519	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	C	6.644	0.487228	0.12641	.	.	ENSG00000112379	ENST00000251691	T	0.16743	2.32	5.3	2.96	0.34315	.	0.923508	0.09438	N	0.802184	T	0.03263	0.0095	N	0.19112	0.55	0.09310	N	1	B	0.18166	0.026	B	0.20184	0.028	T	0.46978	-0.9152	10	0.14656	T	0.56	-27.2306	9.8371	0.40975	0.0:0.7952:0.0:0.2048	.	840	Q5TH69	BIG3_HUMAN	R	840	ENSP00000251691:T840R	ENSP00000251691:T840R	T	+	2	0	KIAA1244	138648833	0.006000	0.16342	0.028000	0.17463	0.768000	0.43524	1.843000	0.39259	0.467000	0.27218	0.655000	0.94253	ACA	KIAA1244	-	superfamily_ARM-type_fold	ENSG00000112379		0.463	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	-	0.00	43	0	C	NM_020340		138607140	+1	tier1	-	no_errors	ENST00000251691	ensembl	human	known	74_37	missense	30.36	39	17	SNP	0.031	G
KLHL29	114818	genome.wustl.edu	37	2	23926091	23926091	+	Frame_Shift_Del	DEL	C	C	-	rs33977339|rs397691246		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:23926091delC	ENST00000486442.1	+	12	2858	c.2141delC	c.(2140-2142)gccfs	p.A714fs		NM_052920.1	NP_443152.1	Q96CT2	KLH29_HUMAN	kelch-like family member 29	714										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|lung(1)|ovary(3)	10						GAGGCGGTGGCCCCTCTGCCC	0.617																																																	0													57.0	55.0	56.0					2																	23926091		692	1591	2283	SO:0001589	frameshift_variant	0				CCDS54335.1	2p23.3	2013-09-27	2013-02-22	2007-01-09	ENSG00000119771	ENSG00000119771		"""Kelch-like"", ""BTB/POZ domain containing"""	29404	protein-coding gene	gene with protein product			"""kelch repeat and BTB (POZ) domain containing 9"", ""kelch-like 29 (Drosophila)"""	KBTBD9		11572484	Standard	NM_052920		Approved	KIAA1921	uc010ykg.2	Q96CT2	OTTHUMG00000151899	ENST00000486442.1:c.2141delC	2.37:g.23926091delC	ENSP00000420659:p.Ala714fs		Q8N388|Q96BF0|Q96PW7	Frame_Shift_Del	DEL	pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.P715fs	ENST00000486442.1	37	c.2141	CCDS54335.1	2																																																																																			KLHL29	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1	ENSG00000119771		0.617	KLHL29-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	KLHL29	HGNC	protein_coding	OTTHUMT00000324315.3		0.00	63	0	C	NM_052920		23926091	+1	tier1		no_errors	ENST00000486442	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	1.000	-
KLRF1	51348	genome.wustl.edu	37	12	9994450	9994450	+	Missense_Mutation	SNP	G	G	A	rs3052097|rs111928232		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:9994450G>A	ENST00000279544.3	+	4	441	c.377G>A	c.(376-378)tGt>tAt	p.C126Y	KLRF1_ENST00000354855.3_Intron|KLRF1_ENST00000324214.4_Missense_Mutation_p.C76Y|KLRF1_ENST00000537723.1_Intron	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	126	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|MHC class I receptor activity (GO:0032393)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						GGGAAGTGTTGTTATTGGTTC	0.323																																																	0													142.0	134.0	136.0					12																	9994450		1842	4083	5925	SO:0001583	missense	0			AF175206	CCDS41750.1	12p13.31	2011-08-30			ENSG00000150045	ENSG00000150045		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	13342	protein-coding gene	gene with protein product		605029				10671213	Standard	NM_001291823		Approved	CLEC5C, NKp80	uc021qux.1	Q9NZS2		ENST00000279544.3:c.377G>A	12.37:g.9994450G>A	ENSP00000279544:p.Cys126Tyr		Q4KMT5|Q96PR2|Q96PR3|Q9NZS1	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.C126Y	ENST00000279544.3	37	c.377	CCDS41750.1	12	.	.	.	.	.	.	.	.	.	.	-	4.237	0.042890	0.08196	.	.	ENSG00000150045	ENST00000324214;ENST00000279544	T;T	0.38401	1.14;1.14	.	.	.	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	.	.	.	.	T	0.62708	0.2450	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;0.988	D;D	0.87578	0.998;0.983	T	0.65162	-0.6235	6	.	.	.	.	.	.	.	.	126;76	Q9NZS2;Q9NZS2-2	KLRF1_HUMAN;.	Y	76;126	ENSP00000322487:C76Y;ENSP00000279544:C126Y	.	C	+	2	0	KLRF1	9885717	1.000000	0.71417	0.998000	0.56505	0.846000	0.48090	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	TGT	KLRF1	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000150045		0.323	KLRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLRF1	HGNC	protein_coding	OTTHUMT00000399535.1		0.00	36	0	G	NM_016523		9994450	+1			no_errors	ENST00000279544	ensembl	human	known	74_37	missense	5.45	104	6	SNP	0.999	A
ATG4D	84971	genome.wustl.edu	37	19	10666007	10666008	+	IGR	INS	-	-	AA			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:10666007_10666008insAA	ENST00000309469.4	+	0	1949				KRI1_ENST00000312962.6_Frame_Shift_Ins_p.K552fs|KRI1_ENST00000361821.5_Frame_Shift_Ins_p.K548fs	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase						apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TTCAGCTCCTTATCGTCAGCAG	0.634																																																	0																																										SO:0001628	intergenic_variant	0			AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582		19.37:g.10666007_10666008insAA			Q969K0	Frame_Shift_Ins	INS	pfam_KRR1-interact_protein_1	p.K551fs	ENST00000309469.4	37	c.1654_1653	CCDS12241.1	19																																																																																			KRI1	-	pfam_KRR1-interact_protein_1	ENSG00000129347		0.634	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRI1	HGNC	protein_coding	OTTHUMT00000452022.1		0.00	79	0	-	NM_032885		10666008	-1	tier1		no_errors	ENST00000312962	ensembl	human	known	74_37	frame_shift_ins	37.50	40	24	INS	1.000:1.000	AA
LAMA2	3908	genome.wustl.edu	37	6	129636761	129636761	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:129636761delT	ENST00000421865.2	+	25	3745	c.3696delT	c.(3694-3696)cctfs	p.P1232fs		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1232	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATTTGGAACCTTTTTATTGGA	0.398																																																	0													119.0	113.0	115.0					6																	129636761		2203	4300	6503	SO:0001589	frameshift_variant	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3696delT	6.37:g.129636761delT	ENSP00000400365:p.Pro1232fs		Q14736|Q5VUM2|Q93022	Frame_Shift_Del	DEL	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.Y1234fs	ENST00000421865.2	37	c.3696	CCDS5138.1	6																																																																																			LAMA2	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV	ENSG00000196569		0.398	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1		0.00	39	0	T			129636761	+1	tier1		no_errors	ENST00000421865	ensembl	human	known	74_37	frame_shift_del	5.71	33	2	DEL	0.997	-
LCT	3938	genome.wustl.edu	37	2	136570212	136570212	+	Silent	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:136570212C>G	ENST00000264162.2	-	7	2032	c.2022G>C	c.(2020-2022)ctG>ctC	p.L674L	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	674	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CAGAGCCTTTCAGGAGCTGCT	0.552																																																	0													103.0	96.0	98.0					2																	136570212		2203	4300	6503	SO:0001819	synonymous_variant	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2022G>C	2.37:g.136570212C>G			Q4ZG58	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.L674	ENST00000264162.2	37	c.2022	CCDS2178.1	2																																																																																			LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000115850		0.552	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	-	0.00	76	0	C	NM_002299		136570212	-1	tier1	-	no_errors	ENST00000264162	ensembl	human	known	74_37	silent	13.56	51	8	SNP	0.126	G
LENG9	94059	genome.wustl.edu	37	19	54973717	54973717	+	Silent	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:54973717G>A	ENST00000333834.4	-	1	1177	c.1059C>T	c.(1057-1059)aaC>aaT	p.N353N		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	353							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GCACTAGGAAGTTGGCGCAGT	0.637																																																	0													70.0	65.0	66.0					19																	54973717		2203	4300	6503	SO:0001819	synonymous_variant	0			AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.1059C>T	19.37:g.54973717G>A			B2VAM3	Silent	SNP	superfamily_RNA_ligase/cNuc_Pdiesterase,smart_Znf_CCCH	p.N353	ENST00000333834.4	37	c.1059	CCDS12895.2	19																																																																																			LENG9	-	superfamily_RNA_ligase/cNuc_Pdiesterase	ENSG00000182909		0.637	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG9	HGNC	protein_coding	OTTHUMT00000140806.3	-	0.00	78	0	G	NM_198988		54973717	-1	tier1	-	no_errors	ENST00000333834	ensembl	human	known	74_37	silent	23.94	54	17	SNP	0.000	A
LIMCH1	22998	genome.wustl.edu	37	4	41648815	41648815	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:41648815C>G	ENST00000313860.7	+	12	1624	c.1570C>G	c.(1570-1572)Cca>Gca	p.P524A	LIMCH1_ENST00000512632.1_Missense_Mutation_p.P524A|LIMCH1_ENST00000511496.1_Missense_Mutation_p.P365A|LIMCH1_ENST00000513024.1_Missense_Mutation_p.P353A|LIMCH1_ENST00000512820.1_Missense_Mutation_p.P512A|LIMCH1_ENST00000396595.3_Missense_Mutation_p.P370A|LIMCH1_ENST00000381753.4_Missense_Mutation_p.P358A|LIMCH1_ENST00000514096.1_Missense_Mutation_p.P365A|LIMCH1_ENST00000509277.1_Missense_Mutation_p.P358A|LIMCH1_ENST00000512946.1_Missense_Mutation_p.P524A|LIMCH1_ENST00000508501.1_Missense_Mutation_p.P524A|LIMCH1_ENST00000503057.1_Missense_Mutation_p.P909A	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	524					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CAGTGGGTCTCCAAGCAAAAC	0.507																																																	0													143.0	143.0	143.0					4																	41648815		2203	4300	6503	SO:0001583	missense	0			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1570C>G	4.37:g.41648815C>G	ENSP00000316891:p.Pro524Ala		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.P909A	ENST00000313860.7	37	c.2725	CCDS33977.1	4	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909477	0.72868	.	.	ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753	T;T;T;T;T;T;T;T;T;T;T;T	0.52754	0.99;1.28;1.35;1.29;0.99;1.29;0.67;0.75;0.65;0.67;0.75;0.66	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.67795	0.2931	M	0.72894	2.215	0.45718	D	0.99862	B;P;B;B;P;D;P;D;D;D;D	0.89917	0.402;0.76;0.402;0.34;0.851;0.998;0.537;1.0;1.0;1.0;1.0	B;P;B;B;P;D;B;D;D;D;D	0.91635	0.119;0.616;0.074;0.316;0.71;0.996;0.237;0.999;0.997;0.999;0.997	T	0.62286	-0.6886	10	0.21540	T	0.41	-11.2404	18.9096	0.92477	0.0:1.0:0.0:0.0	.	275;358;524;358;370;909;353;512;524;524;524	B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	A	353;524;524;524;524;512;909;365;908;365;358;370;358	ENSP00000425222:P353A;ENSP00000424825:P524A;ENSP00000424645:P524A;ENSP00000316891:P524A;ENSP00000427045:P524A;ENSP00000424437:P512A;ENSP00000425631:P909A;ENSP00000421242:P365A;ENSP00000426334:P365A;ENSP00000422864:P358A;ENSP00000379840:P370A;ENSP00000371172:P358A	ENSP00000316891:P524A	P	+	1	0	LIMCH1	41343572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.690000	0.61731	2.559000	0.86315	0.591000	0.81541	CCA	LIMCH1	-	NULL	ENSG00000064042		0.507	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2	-	0.00	36	0	C	NM_014988		41648815	+1	tier1	-	no_errors	ENST00000503057	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	G
LMAN1	3998	genome.wustl.edu	37	18	57006155	57006155	+	Missense_Mutation	SNP	C	C	A	rs538087229		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr18:57006155C>A	ENST00000251047.5	-	9	1703	c.986G>T	c.(985-987)cGa>cTa	p.R329L		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	329					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)	p.R329Q(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TCTTAGCTCTCGATCTCCTAC	0.358																																																	1	Substitution - Missense(1)	endometrium(1)											111.0	105.0	107.0					18																	57006155		2203	4300	6503	SO:0001583	missense	0			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.986G>T	18.37:g.57006155C>A	ENSP00000251047:p.Arg329Leu		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom	p.R329L	ENST00000251047.5	37	c.986	CCDS11974.1	18	.	.	.	.	.	.	.	.	.	.	C	34	5.313648	0.95655	.	.	ENSG00000074695	ENST00000251047	T	0.62364	0.03	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.77811	0.4186	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.76737	-0.2849	10	0.52906	T	0.07	-14.4892	19.7371	0.96210	0.0:1.0:0.0:0.0	.	329	P49257	LMAN1_HUMAN	L	329	ENSP00000251047:R329L	ENSP00000251047:R329L	R	-	2	0	LMAN1	55157135	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.414000	0.80117	2.836000	0.97738	0.655000	0.94253	CGA	LMAN1	-	superfamily_HMG_box_dom	ENSG00000074695		0.358	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN1	HGNC	protein_coding	OTTHUMT00000256129.2		0.00	36	0	C	NM_005570		57006155	-1			no_errors	ENST00000251047	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	A
SCIMP	388325	genome.wustl.edu	37	17	5126838	5126839	+	Intron	INS	-	-	T	rs371714640		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr17:5126838_5126839insT	ENST00000574081.1	-	2	126				RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000574297.1_Intron|SCIMP_ENST00000399600.4_Intron|RP11-333E1.1_ENST00000573772.1_RNA|SCIMP_ENST00000571800.1_Intron|RP11-333E1.1_ENST00000575601.1_RNA	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	SCIMP_HUMAN	SLP adaptor and CSK interacting membrane protein						positive regulation of ERK1 and ERK2 cascade (GO:0070374)	immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|tetraspanin-enriched microdomain (GO:0097197)|uropod membrane (GO:0031259)											ACTGTGGGttgttttttttttc	0.495																																																	0																																										SO:0001627	intron_variant	0			AY358809	CCDS42242.1, CCDS62044.1	17p13.2	2011-11-24	2011-11-23	2011-11-23	ENSG00000161929	ENSG00000161929			33504	protein-coding gene	gene with protein product	"""SLP65/SLP76, Csk-interacting membrane protein"""	614406	"""chromosome 17 open reading frame 87"""	C17orf87		21930792	Standard	NM_207103		Approved	DTFT5783, UNQ5783, FLJ32580, MGC163426, MGC163428	uc002gbh.3	Q6UWF3	OTTHUMG00000132914	ENST00000574081.1:c.22-87->A	17.37:g.5126848_5126848dupT			A6XGL4|B4DLK1|Q96MD0	RNA	INS	-	NULL	ENST00000574081.1	37	NULL	CCDS42242.1	17																																																																																			RP11-333E1.1	-	-	ENSG00000261879		0.495	SCIMP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LOC100130950	Clone_based_vega_gene	protein_coding	OTTHUMT00000256425.2		0.00	25	0	-	NM_207103		5126839	+1	tier1		no_errors	ENST00000575601	ensembl	human	known	74_37	rna	9.38	29	3	INS	0.000:0.000	T
RP11-403I13.4	0	genome.wustl.edu	37	1	149263943	149263944	+	lincRNA	INS	-	-	T	rs138602220|rs372819247		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:149263943_149263944insT	ENST00000325963.8	+	0	3490_3491																											CCAGCACTGTATTTTTTACCTT	0.302																																																	0																																												0																															1.37:g.149263949_149263949dupT				RNA	INS	-	NULL	ENST00000325963.8	37	NULL		1																																																																																			RP11-403I13.4	-	-	ENSG00000223779		0.302	RP11-403I13.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	LOC100293748	Clone_based_vega_gene	lincRNA	OTTHUMT00000099551.1		0.00	8	0	0			149263944	+1			no_errors	ENST00000325963	ensembl	human	known	74_37	rna	54.55	5	6	INS	0.989:0.991	T
LRRC43	254050	genome.wustl.edu	37	12	122676103	122676103	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:122676103G>T	ENST00000339777.4	+	6	1106	c.1078G>T	c.(1078-1080)Gtc>Ttc	p.V360F	LRRC43_ENST00000425921.1_Missense_Mutation_p.V175F	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	360	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GTCCGCGGGCGTCCTGGCCGA	0.517											OREG0022219	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													70.0	70.0	70.0					12																	122676103		1895	4111	6006	SO:0001583	missense	0			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1078G>T	12.37:g.122676103G>T	ENSP00000344233:p.Val360Phe	1520	Q6ZVT9	Missense_Mutation	SNP	NULL	p.V360F	ENST00000339777.4	37	c.1078	CCDS45001.1	12	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240456	0.39598	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.59224	0.28;0.72	5.39	3.54	0.40534	.	0.403752	0.22838	N	0.055010	T	0.48370	0.1496	L	0.36672	1.1	0.09310	N	1	P	0.42556	0.783	B	0.44133	0.442	T	0.33214	-0.9877	9	.	.	.	-24.7734	9.1096	0.36718	0.0811:0.1455:0.7733:0.0	.	360	Q8N309	LRC43_HUMAN	F	360;231;175	ENSP00000344233:V360F;ENSP00000416628:V175F	.	V	+	1	0	LRRC43	121242056	0.002000	0.14202	0.007000	0.13788	0.006000	0.05464	1.082000	0.30803	1.289000	0.44618	-0.226000	0.12346	GTC	LRRC43	-	NULL	ENSG00000158113		0.517	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC43	HGNC	protein_coding	OTTHUMT00000401589.1		0.00	33	0	G	NM_152759		122676103	+1			no_errors	ENST00000339777	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.003	T
LRRIQ3	127255	genome.wustl.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T	rs375424853		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:74575212_74575213insT	ENST00000395089.1	-	4	731_732	c.732_733insA	c.(730-735)aaacagfs	p.Q245fs	LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.Q137fs|LRRIQ3_ENST00000354431.4_Frame_Shift_Ins_p.Q245fs			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621). {ECO:0000305}.						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327																																																	0																																										SO:0001589	frameshift_variant	0			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.733dupA	1.37:g.74575221_74575221dupT	ENSP00000378524:p.Gln245fs		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Frame_Shift_Ins	INS	pfscan_IQ_motif_EF-hand-BS	p.Q244fs	ENST00000395089.1	37	c.733_732	CCDS41350.1	1																																																																																			LRRIQ3	-	pfscan_IQ_motif_EF-hand-BS	ENSG00000162620		0.327	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRIQ3	HGNC	protein_coding	OTTHUMT00000316539.1		0.00	30	0	-	NM_145258		74575213	-1	tier1		no_errors	ENST00000354431	ensembl	human	known	74_37	frame_shift_ins	7.69	36	3	INS	0.001:0.004	T
LURAP1L	286343	genome.wustl.edu	37	9	12775744	12775744	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr9:12775744A>T	ENST00000319264.3	+	1	725	c.30A>T	c.(28-30)agA>agT	p.R10S	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	10																	CAGACCTCAGAGACATCGAGC	0.592																																																	0													23.0	25.0	24.0					9																	12775744		2203	4300	6503	SO:0001583	missense	0			AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.30A>T	9.37:g.12775744A>T	ENSP00000321026:p.Arg10Ser		Q5VZX7|Q8N923|Q8NCG2	Missense_Mutation	SNP	NULL	p.R10S	ENST00000319264.3	37	c.30	CCDS6473.1	9	.	.	.	.	.	.	.	.	.	.	A	17.12	3.308464	0.60305	.	.	ENSG00000153714	ENST00000319264	T	0.52983	0.64	5.65	3.25	0.37280	.	0.176884	0.36134	N	0.002766	T	0.32734	0.0839	L	0.46157	1.445	0.39187	D	0.962898	P	0.40731	0.728	B	0.33521	0.165	T	0.21724	-1.0237	10	0.87932	D	0	-1.7808	3.9126	0.09210	0.5948:0.1801:0.2251:0.0	.	10	Q8IV03	CI150_HUMAN	S	10	ENSP00000321026:R10S	ENSP00000321026:R10S	R	+	3	2	C9orf150	12765744	0.993000	0.37304	1.000000	0.80357	0.985000	0.73830	0.116000	0.15561	0.392000	0.25172	-0.366000	0.07423	AGA	LURAP1L	-	NULL	ENSG00000153714		0.592	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LURAP1L	HGNC	protein_coding	OTTHUMT00000051730.1	-	0.00	81	0	A	NM_203403		12775744	+1	tier1	-	no_errors	ENST00000319264	ensembl	human	known	74_37	missense	59.62	21	31	SNP	1.000	T
LYPD3	27076	genome.wustl.edu	37	19	43969651	43969651	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:43969651G>C	ENST00000244333.3	-	1	161	c.73C>G	c.(73-75)Cgc>Ggc	p.R25G		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	25					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				CCACCTCCGCGAAGCAGCAGC	0.672																																																	0													81.0	74.0	77.0					19																	43969651		2203	4300	6503	SO:0001583	missense	0			AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.73C>G	19.37:g.43969651G>C	ENSP00000244333:p.Arg25Gly		Q9UJ74	Missense_Mutation	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.R25G	ENST00000244333.3	37	c.73	CCDS12620.1	19	.	.	.	.	.	.	.	.	.	.	G	4.061	0.009070	0.07912	.	.	ENSG00000124466	ENST00000244333;ENST00000377995	T	0.12039	2.72	3.5	1.38	0.22167	.	3.760790	0.01104	N	0.005447	T	0.08044	0.0201	N	0.08118	0	0.09310	N	1	B;B	0.18166	0.026;0.026	B;B	0.16722	0.01;0.016	T	0.27157	-1.0082	10	0.25106	T	0.35	.	5.7921	0.18367	0.257:0.0:0.743:0.0	.	25;25	B2RBR3;O95274	.;LYPD3_HUMAN	G	25	ENSP00000244333:R25G	ENSP00000244333:R25G	R	-	1	0	LYPD3	48661491	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.274000	0.02820	0.449000	0.26747	-0.343000	0.07986	CGC	LYPD3	-	NULL	ENSG00000124466		0.672	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD3	HGNC	protein_coding	OTTHUMT00000463177.1	-	0.00	104	0	G	NM_014400		43969651	-1	tier1	-	no_errors	ENST00000244333	ensembl	human	known	74_37	missense	15.66	70	13	SNP	0.000	C
LZTS1	11178	genome.wustl.edu	37	8	20110621	20110621	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr8:20110621delT	ENST00000381569.1	-	3	1178	c.821delA	c.(820-822)gagfs	p.E274fs	LZTS1_ENST00000265801.6_Frame_Shift_Del_p.E274fs|LZTS1_ENST00000522290.1_Frame_Shift_Del_p.E274fs			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	274					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GAGGGCGCCCTCCCTCTCCAA	0.662																																																	0													42.0	39.0	40.0					8																	20110621		2190	4290	6480	SO:0001589	frameshift_variant	0			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.821delA	8.37:g.20110621delT	ENSP00000370981:p.Glu274fs		D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Frame_Shift_Del	DEL	NULL	p.E274fs	ENST00000381569.1	37	c.821	CCDS6015.1	8																																																																																			LZTS1	-	NULL	ENSG00000061337		0.662	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTS1	HGNC	protein_coding	OTTHUMT00000214122.1		0.00	56	0	T	NM_021020		20110621	-1	tier1		no_errors	ENST00000265801	ensembl	human	known	74_37	frame_shift_del	11.76	15	2	DEL	0.973	-
MED12L	116931	genome.wustl.edu	37	3	151107839	151107839	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:151107839C>A	ENST00000474524.1	+	36	5457	c.5419C>A	c.(5419-5421)Cca>Aca	p.P1807T	MED12L_ENST00000273432.4_Missense_Mutation_p.P1667T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1807						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GATGCACCATCCACAGTCCAC	0.463																																																	0													182.0	183.0	183.0					3																	151107839		2203	4300	6503	SO:0001583	missense	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5419C>A	3.37:g.151107839C>A	ENSP00000417235:p.Pro1807Thr		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.P1807T	ENST00000474524.1	37	c.5419	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792511	0.31685	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.61510	0.31;0.1	5.86	4.99	0.66335	.	0.213120	0.40222	N	0.001150	T	0.57695	0.2071	M	0.62723	1.935	0.36932	D	0.891956	B;B	0.22909	0.009;0.077	B;B	0.26693	0.013;0.072	T	0.63594	-0.6602	10	0.66056	D	0.02	-16.0937	14.5922	0.68373	0.1457:0.8543:0.0:0.0	.	1667;1807	F8WAE6;Q86YW9	.;MD12L_HUMAN	T	1807;1667	ENSP00000417235:P1807T;ENSP00000273432:P1667T	ENSP00000273432:P1667T	P	+	1	0	MED12L	152590529	0.767000	0.28508	0.693000	0.30195	0.532000	0.34746	1.868000	0.39509	1.456000	0.47831	0.655000	0.94253	CCA	MED12L	-	NULL	ENSG00000144893		0.463	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	-	0.00	57	0	C	NM_053002		151107839	+1	tier1	-	no_errors	ENST00000474524	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.866	A
MEGF8	1954	genome.wustl.edu	37	19	42861130	42861130	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:42861130G>C	ENST00000251268.6	+	27	4827	c.4827G>C	c.(4825-4827)gaG>gaC	p.E1609D	MEGF8_ENST00000334370.4_Missense_Mutation_p.E1542D	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1609					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGCGGCAGGAGAAGGTGAGCA	0.627																																																	0													35.0	28.0	30.0					19																	42861130		2203	4297	6500	SO:0001583	missense	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4827G>C	19.37:g.42861130G>C	ENSP00000251268:p.Glu1609Asp		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.E1609D	ENST00000251268.6	37	c.4827		19	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775296	0.49786	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.63744	-0.06;-0.06	5.32	5.32	0.75619	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.229124	0.37530	N	0.002049	T	0.53610	0.1807	N	0.08118	0	0.80722	D	1	P;D	0.57257	0.918;0.979	P;P	0.55999	0.53;0.789	T	0.60791	-0.7193	10	0.72032	D	0.01	-25.7615	10.0121	0.41992	0.0918:0.0:0.9082:0.0	.	1609;1542	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	D	1542;1609	ENSP00000334219:E1542D;ENSP00000251268:E1609D	ENSP00000251268:E1609D	E	+	3	2	MEGF8	47552970	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.729000	0.38115	2.511000	0.84671	0.563000	0.77884	GAG	MEGF8	-	superfamily_Gal_Oxase/kelch_b-propeller	ENSG00000105429		0.627	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1		0.00	32	0	G	NM_001410		42861130	+1			no_errors	ENST00000251268	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	C
MFSD4	148808	genome.wustl.edu	37	1	205554106	205554106	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:205554106C>T	ENST00000367147.4	+	5	1055	c.962C>T	c.(961-963)aCg>aTg	p.T321M	MFSD4_ENST00000536357.1_Missense_Mutation_p.T234M|MFSD4_ENST00000539267.1_Missense_Mutation_p.T321M	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	321					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CTGTTCATGACGGATGGGTTG	0.587											OREG0014158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													93.0	90.0	91.0					1																	205554106		2203	4300	6503	SO:0001583	missense	0			BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.962C>T	1.37:g.205554106C>T	ENSP00000356115:p.Thr321Met	2153	B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.T321M	ENST00000367147.4	37	c.962	CCDS1455.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288670	0.80914	.	.	ENSG00000174514	ENST00000367147;ENST00000539267;ENST00000536357	T;T;T	0.80909	0.37;0.37;-1.43	5.87	5.87	0.94306	Major facilitator superfamily domain, general substrate transporter (1);	0.044161	0.85682	D	0.000000	D	0.89924	0.6856	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.991;0.997	D	0.89697	0.3902	10	0.66056	D	0.02	-19.2058	19.1458	0.93467	0.0:1.0:0.0:0.0	.	266;234;321	B7Z8X0;B7Z8X3;Q8N468	.;.;MFSD4_HUMAN	M	321;321;234	ENSP00000356115:T321M;ENSP00000445329:T321M;ENSP00000440183:T234M	ENSP00000356115:T321M	T	+	2	0	MFSD4	203820729	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	4.444000	0.60001	2.941000	0.99782	0.655000	0.94253	ACG	MFSD4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000174514		0.587	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD4	HGNC	protein_coding	OTTHUMT00000090391.1	-	0.00	79	0	C	NM_181644		205554106	+1	tier1	-	no_errors	ENST00000367147	ensembl	human	known	74_37	missense	5.32	89	5	SNP	1.000	T
MNAT1	4331	genome.wustl.edu	37	14	61275047	61275047	+	Silent	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr14:61275047C>T	ENST00000261245.4	+	4	422	c.321C>T	c.(319-321)ttC>ttT	p.F107F	MNAT1_ENST00000539616.2_Silent_p.F107F	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	107					7-methylguanosine mRNA capping (GO:0006370)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to calcium ion (GO:0051592)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|ventricular system development (GO:0021591)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		ATGCAGTTTTCAACTTGACCA	0.294								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																																									0													52.0	48.0	50.0					14																	61275047		2202	4295	6497	SO:0001819	synonymous_variant	0			X87843	CCDS9750.1, CCDS53899.1	14q23	2013-07-31	2013-07-31		ENSG00000020426	ENSG00000020426		"""RING-type (C3HC4) zinc fingers"", ""General transcription factor IIH complex subunits"""	7181	protein-coding gene	gene with protein product	"""CDK-activating kinase assembly factor"""	602659	"""menage a trois 1 (CAK assembly factor)"", ""menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)"""			9465303	Standard	NM_002431		Approved	MAT1, RNF66	uc001xfd.3	P51948	OTTHUMG00000152340	ENST00000261245.4:c.321C>T	14.37:g.61275047C>T			G3V1U8|Q15817|Q6ICQ7	Silent	SNP	pirsf_MAT1/Tfb3,pfam_Cdk-activating_kinase_MAT1_cen,smart_Znf_RING,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING,tigrfam_MAT1/Tfb3	p.F107	ENST00000261245.4	37	c.321	CCDS9750.1	14																																																																																			MNAT1	-	pirsf_MAT1/Tfb3,pfam_Cdk-activating_kinase_MAT1_cen,tigrfam_MAT1/Tfb3	ENSG00000020426		0.294	MNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNAT1	HGNC	protein_coding	OTTHUMT00000276956.1		0.00	61	0	C	NM_002431		61275047	+1			no_errors	ENST00000261245	ensembl	human	known	74_37	silent	11.63	37	5	SNP	1.000	T
MOGAT1	116255	genome.wustl.edu	37	2	223554125	223554125	+	Missense_Mutation	SNP	T	T	C	rs147393916	byFrequency	TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:223554125T>C	ENST00000446656.3	+	3	415	c.415T>C	c.(415-417)Tat>Cat	p.Y139H		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	139					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		CTTTACTTCATATCTTCACGT	0.433																																					Ovarian(93;205 1446 2385 11581 25911)												0													191.0	176.0	181.0					2																	223554125		1938	4131	6069	SO:0001583	missense	0			AF384163	CCDS46524.1	2q36.2	2006-10-06	2004-05-28	2004-05-28	ENSG00000124003	ENSG00000124003			18210	protein-coding gene	gene with protein product		610268	"""diacylglycerol O-acyltransferase 2 like 1"""	DGAT2L1		14970677	Standard	NM_058165		Approved	DGAT2L, MGAT1	uc010fws.1	Q96PD6	OTTHUMG00000153394	ENST00000446656.3:c.415T>C	2.37:g.223554125T>C	ENSP00000406674:p.Tyr139His		Q6IEE5	Missense_Mutation	SNP	pfam_DAGAT	p.Y139H	ENST00000446656.3	37	c.415	CCDS46524.1	2	.	.	.	.	.	.	.	.	.	.	T	7.745	0.702183	0.15172	.	.	ENSG00000124003	ENST00000446656	T	0.13196	2.61	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000002	T	0.08088	0.0202	N	0.13352	0.335	0.46222	D	0.998937	B	0.06786	0.001	B	0.13407	0.009	T	0.08932	-1.0698	10	0.05620	T	0.96	-11.6003	15.4877	0.75578	0.0:0.0:0.0:1.0	.	139	Q96PD6	MOGT1_HUMAN	H	139	ENSP00000406674:Y139H	ENSP00000406674:Y139H	Y	+	1	0	MOGAT1	223262369	1.000000	0.71417	0.055000	0.19348	0.251000	0.25915	5.583000	0.67484	2.248000	0.74166	0.533000	0.62120	TAT	MOGAT1	-	pfam_DAGAT	ENSG00000124003		0.433	MOGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOGAT1	HGNC	protein_coding	OTTHUMT00000331010.3		0.00	24	0	T	NM_058165		223554125	+1			no_errors	ENST00000446656	ensembl	human	known	74_37	missense	12.82	34	5	SNP	0.991	C
MOSPD1	56180	genome.wustl.edu	37	X	134033227	134033227	+	Intron	DEL	T	T	-			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chrX:134033227delT	ENST00000370783.3	-	3	341				MOSPD1_ENST00000491609.1_Intron|MOSPD1_ENST00000370777.1_Intron|MOSPD1_ENST00000370779.4_Intron	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					GCCATTAGTGTTTTTTTTTTT	0.353																																																	0										79,762,2880		0,0,64,15,2,555,203,971,319	70.0	70.0	70.0			2.5	0.8	X		76	131,1554,4799		0,0,77,54,0,865,689,1415,1027	no	intron	MOSPD1	NM_019556.1		0,0,141,69,2,1420,892,2386,1346	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		25.987,22.6015,24.7526			134033227	210,2316,7679	2203	4300	6503	SO:0001627	intron_variant	0			Z83826	CCDS14645.1	Xq26.3	2008-02-05			ENSG00000101928	ENSG00000101928			25235	protein-coding gene	gene with protein product		300674				15533722	Standard	XM_005262446		Approved	dJ473B4	uc004eyb.3	Q9UJG1	OTTHUMG00000035315	ENST00000370783.3:c.155-32A>-	X.37:g.134033227delT			B2RE62|D3DTG5|Q5H9C5|Q5H9C7	RNA	DEL	-	NULL	ENST00000370783.3	37	NULL	CCDS14645.1	X																																																																																			MOSPD1	-	-	ENSG00000101928		0.353	MOSPD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MOSPD1	HGNC	protein_coding	OTTHUMT00000085439.1		0.00	30	0	T	NM_019556		134033227	-1	tier1		no_errors	ENST00000462060	ensembl	human	known	74_37	rna	6.90	27	2	DEL	0.001	-
MT-CO1	4512	genome.wustl.edu	37	M	6093	6093	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chrM:6093G>A	ENST00000361624.2	+	1	190	c.190G>A	c.(190-192)Gta>Ata	p.V64I	MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-CO2_ENST00000361739.1_5'Flank			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	64					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CCCATGCATTTGTAATAATCT	0.498																																																	0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.190G>A	M.37:g.6093G>A	ENSP00000354499:p.Val64Ile		Q34770	Missense_Mutation	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.V64M	ENST00000361624.2	37	c.190		MT																																																																																			MT-CO1	-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	ENSG00000198804		0.498	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding		-	0.00	15	0	G	YP_003024028		6093	+1	tier1	-	no_errors	ENST00000361624	ensembl	human	known	74_37	missense	53.33	7	8	SNP	NULL	A
MYH2	4620	genome.wustl.edu	37	17	10451186	10451186	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr17:10451186G>A	ENST00000245503.5	-	3	436	c.52C>T	c.(52-54)Cga>Tga	p.R18*	MYH2_ENST00000532183.2_Nonsense_Mutation_p.R18*|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.R18*	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	18					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCAGACTTTCGGAGGAAAGGA	0.483																																																	0													52.0	51.0	51.0					17																	10451186		2203	4300	6503	SO:0001587	stop_gained	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.52C>T	17.37:g.10451186G>A	ENSP00000245503:p.Arg18*		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Nonsense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R18*	ENST00000245503.5	37	c.52	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	G	39	7.398499	0.98258	.	.	ENSG00000125414	ENST00000532288;ENST00000532183;ENST00000245503;ENST00000397183;ENST00000420805;ENST00000431502	.	.	.	5.85	4.85	0.62838	.	0.000000	0.33346	U	0.005017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3017	0.60328	0.0:0.0:0.7184:0.2816	.	.	.	.	X	18	.	ENSP00000245503:R18X	R	-	1	2	MYH2	10391911	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.321000	0.43805	2.772000	0.95346	0.650000	0.86243	CGA	MYH2	-	NULL	ENSG00000125414		0.483	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	-	0.00	33	0	G	NM_017534		10451186	-1	tier1	-	no_errors	ENST00000245503	ensembl	human	known	74_37	nonsense	22.86	27	8	SNP	1.000	A
MYOM3	127294	genome.wustl.edu	37	1	24408891	24408891	+	Intron	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:24408891C>T	ENST00000374434.3	-	17	2255				MYOM3_ENST00000329601.7_Intron|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000330966.7_Intron|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000475306.1_5'UTR	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3							M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTGCTCAGGCCCCATCCCATG	0.612																																																	0																																										SO:0001627	intron_variant	0			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.2092+191G>A	1.37:g.24408891C>T			A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	RNA	SNP	-	NULL	ENST00000374434.3	37	NULL	CCDS41281.1	1																																																																																			MYOM3	-	-	ENSG00000142661		0.612	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	-	0.00	10	0	C	NM_152372		24408891	-1	tier1	-	no_errors	ENST00000475306	ensembl	human	known	74_37	rna	42.11	11	8	SNP	0.000	T
NAV3	89795	genome.wustl.edu	37	12	78400821	78400821	+	Silent	SNP	A	A	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:78400821A>G	ENST00000397909.2	+	8	1676	c.1503A>G	c.(1501-1503)aaA>aaG	p.K501K	NAV3_ENST00000266692.7_Silent_p.K501K|NAV3_ENST00000228327.6_Silent_p.K501K|NAV3_ENST00000536525.2_Silent_p.K501K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	501						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGACCTCCAAAATTGCAAGCT	0.418										HNSCC(70;0.22)																																							0													76.0	75.0	75.0					12																	78400821		1893	4118	6011	SO:0001819	synonymous_variant	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1503A>G	12.37:g.78400821A>G			Q8NFW7|Q9Y2E7	Silent	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.K501	ENST00000397909.2	37	c.1503		12																																																																																			NAV3	-	NULL	ENSG00000067798		0.418	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	-	0.00	15	0	A	NM_001024383		78400821	+1	tier1	-	no_errors	ENST00000397909	ensembl	human	known	74_37	silent	35.48	20	11	SNP	1.000	G
NCAM1	4684	genome.wustl.edu	37	11	113147541	113147541	+	3'UTR	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr11:113147541C>T	ENST00000397957.4	+	0	4220				RP11-839D17.3_ENST00000529416.1_RNA|RP11-839D17.3_ENST00000526487.1_RNA|RP11-839D17.3_ENST00000533504.1_RNA|NCAM1-AS1_ENST00000526229.1_RNA|NCAM1_ENST00000316851.7_3'UTR			P13591	NCAM1_HUMAN	neural cell adhesion molecule 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATACAGAAACTTTAAGGGGG	0.403																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000397957.4:c.*4217C>T	11.37:g.113147541C>T			A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	RNA	SNP	-	NULL	ENST00000397957.4	37	NULL		11																																																																																			NCAM1	-	-	ENSG00000149294		0.403	NCAM1-001	KNOWN	basic	processed_transcript	NCAM1	HGNC	protein_coding	OTTHUMT00000393677.2	-	0.00	28	0	C	NM_000615		113147541	+1	tier1	-	no_errors	ENST00000397957	ensembl	human	known	74_37	rna	75.00	1	3	SNP	1.000	T
NDST1	3340	genome.wustl.edu	37	5	149901145	149901145	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr5:149901145A>G	ENST00000261797.6	+	2	831	c.329A>G	c.(328-330)aAa>aGa	p.K110R	NDST1_ENST00000523767.1_Missense_Mutation_p.K110R	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	110	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCGCTTCAAATACCGCACA	0.607																																																	0													80.0	90.0	87.0					5																	149901145		2203	4300	6503	SO:0001583	missense	0			U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.329A>G	5.37:g.149901145A>G	ENSP00000261797:p.Lys110Arg		Q96E57	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.K110R	ENST00000261797.6	37	c.329	CCDS34277.1	5	.	.	.	.	.	.	.	.	.	.	A	10.30	1.313116	0.23908	.	.	ENSG00000070614	ENST00000519157;ENST00000523767;ENST00000261797	T;T;T	0.44881	0.91;0.91;1.24	5.11	5.11	0.69529	.	0.108239	0.64402	D	0.000006	T	0.19208	0.0461	N	0.02658	-0.545	0.42872	D	0.994147	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.11329	0.006;0.004;0.006	T	0.12293	-1.0553	10	0.10636	T	0.68	.	15.2178	0.73285	1.0:0.0:0.0:0.0	.	110;110;110	E7EVJ3;P52848-2;P52848	.;.;NDST1_HUMAN	R	110	ENSP00000427813:K110R;ENSP00000428604:K110R;ENSP00000261797:K110R	ENSP00000261797:K110R	K	+	2	0	NDST1	149881338	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.988000	0.49386	2.052000	0.61016	0.533000	0.62120	AAA	NDST1	-	pfam_Heparan_SO4_deacetylase	ENSG00000070614		0.607	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST1	HGNC	protein_coding	OTTHUMT00000374314.2	-	0.00	77	0	A	NM_001543		149901145	+1	tier1	-	no_errors	ENST00000261797	ensembl	human	known	74_37	missense	55.00	18	22	SNP	1.000	G
NLRP7	199713	genome.wustl.edu	37	19	55452840	55452840	+	Silent	SNP	G	G	C			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:55452840G>C	ENST00000590030.1	-	1	280	c.240C>G	c.(238-240)ctC>ctG	p.L80L	NLRP7_ENST00000592784.1_Silent_p.L80L|NLRP7_ENST00000588756.1_Silent_p.L80L|NLRP7_ENST00000448121.2_Silent_p.L80L|NLRP7_ENST00000446217.1_Silent_p.L108L|NLRP7_ENST00000328092.5_Silent_p.L80L|NLRP7_ENST00000340844.2_Silent_p.L80L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	80	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ACAATTCCGTGAGATTCATCT	0.403																																																	0													133.0	138.0	136.0					19																	55452840		2203	4300	6503	SO:0001819	synonymous_variant	0			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.240C>G	19.37:g.55452840G>C			E9PE16|Q32MH8|Q7RTR1	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L108	ENST00000590030.1	37	c.324	CCDS33109.1	19																																																																																			NLRP7	-	pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN	ENSG00000167634		0.403	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1		0.00	56	0	G	NM_139176		55452840	-1			no_errors	ENST00000446217	ensembl	human	known	74_37	silent	6.25	45	3	SNP	0.000	C
OR14J1	442191	genome.wustl.edu	37	6	29274876	29274876	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:29274876G>A	ENST00000377160.2	+	1	474	c.410G>A	c.(409-411)cGt>cAt	p.R137H		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						ATGGATCCCCGTGCCTGTAGG	0.507																																																	0													135.0	136.0	136.0					6																	29274876		1511	2708	4219	SO:0001583	missense	0				CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.410G>A	6.37:g.29274876G>A	ENSP00000366365:p.Arg137His		A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R137H	ENST00000377160.2	37	c.410	CCDS34362.1	6	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917037	0.33815	.	.	ENSG00000204695	ENST00000377160	T	0.42513	0.97	4.86	-5.44	0.02624	GPCR, rhodopsin-like superfamily (1);	1.815480	0.03332	N	0.193518	T	0.16300	0.0392	L	0.59912	1.85	0.09310	N	1	B	0.19073	0.033	B	0.14023	0.01	T	0.17623	-1.0363	10	0.25106	T	0.35	.	9.8133	0.40838	0.7007:0.118:0.1814:0.0	.	137	Q9UGF5	O14J1_HUMAN	H	137	ENSP00000366365:R137H	ENSP00000366365:R137H	R	+	2	0	OR14J1	29382855	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-3.409000	0.00481	-1.007000	0.03408	-0.157000	0.13467	CGT	OR14J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000204695		0.507	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14J1	HGNC	protein_coding	OTTHUMT00000076362.2	-	0.00	50	0	G			29274876	+1	tier1	-	no_errors	ENST00000377160	ensembl	human	known	74_37	missense	37.66	47	29	SNP	0.000	A
NOX3	50508	genome.wustl.edu	37	6	155764431	155764431	+	Silent	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:155764431G>A	ENST00000159060.2	-	5	564	c.462C>T	c.(460-462)ctC>ctT	p.L154L		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	154	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GGACAGGGTTGAGGTAGCTCT	0.552																																																	0													118.0	99.0	105.0					6																	155764431		2203	4300	6503	SO:0001819	synonymous_variant	0			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.462C>T	6.37:g.155764431G>A			Q9HBJ9	Silent	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.L154	ENST00000159060.2	37	c.462	CCDS5250.1	6																																																																																			NOX3	-	pfam_Fe3_Rdtase_TM_dom	ENSG00000074771		0.552	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	HGNC	protein_coding	OTTHUMT00000042819.1		0.00	43	0	G			155764431	-1			no_errors	ENST00000159060	ensembl	human	known	74_37	silent	8.11	34	3	SNP	1.000	A
OR2C1	4993	genome.wustl.edu	37	16	3406771	3406771	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:3406771C>G	ENST00000304936.2	+	1	883	c.831C>G	c.(829-831)ttC>ttG	p.F277L		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	277					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TTTCCCTGTTCTACTCGTTGG	0.537																																																	0													86.0	72.0	77.0					16																	3406771		2197	4300	6497	SO:0001583	missense	0			AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"""GPCR / Class A : Olfactory receptors"""	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.831C>G	16.37:g.3406771C>G	ENSP00000307726:p.Phe277Leu		A0AVA4|Q6IF34|Q6IF55	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F277L	ENST00000304936.2	37	c.831	CCDS10502.1	16	.	.	.	.	.	.	.	.	.	.	c	12.94	2.088454	0.36855	.	.	ENSG00000168158	ENST00000304936	T	0.00032	8.88	5.0	1.83	0.25207	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	D	0.000753	T	0.00300	0.0009	L	0.48986	1.54	0.32996	D	0.525541	D	0.89917	1.0	D	0.97110	1.0	T	0.66135	-0.5999	10	0.66056	D	0.02	.	8.0278	0.30446	0.0:0.7053:0.0:0.2947	.	277	O95371	OR2C1_HUMAN	L	277	ENSP00000307726:F277L	ENSP00000307726:F277L	F	+	3	2	OR2C1	3346772	0.001000	0.12720	1.000000	0.80357	0.635000	0.38103	-1.440000	0.02412	0.709000	0.31976	-0.198000	0.12761	TTC	OR2C1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000168158		0.537	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2C1	HGNC	protein_coding	OTTHUMT00000206993.3	-	0.00	21	0	C			3406771	+1	tier1	-	no_errors	ENST00000304936	ensembl	human	known	74_37	missense	33.33	12	6	SNP	0.990	G
OR2W5	441932	genome.wustl.edu	37	1	247655131	247655131	+	RNA	SNP	G	G	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:247655131G>T	ENST00000522351.1	+	0	762							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-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)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCAGCAGGGCGAAAGAAAGCC	0.587																																																	0													135.0	123.0	127.0					1																	247655131		2203	4300	6503			0					1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655131G>T			B9EH85	RNA	SNP	-	NULL	ENST00000522351.1	37	NULL		1																																																																																			OR2W5	-	-	ENSG00000203664		0.587	OR2W5-002	KNOWN	basic	processed_transcript	OR2W5	HGNC	pseudogene	OTTHUMT00000375789.1	-	0.00	77	0	G	NM_001004698		247655131	+1	tier1	-	no_errors	ENST00000522351	ensembl	human	known	74_37	rna	28.05	59	23	SNP	0.003	T
OR5H15	403274	genome.wustl.edu	37	3	97888442	97888442	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:97888442C>G	ENST00000356526.2	+	1	899	c.899C>G	c.(898-900)tCa>tGa	p.S300*		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S300L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GTCATAGTTTCATTCATAAAA	0.308																																																	1	Substitution - Missense(1)	NS(1)											46.0	50.0	49.0					3																	97888442		2191	4295	6486	SO:0001587	stop_gained	0				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.899C>G	3.37:g.97888442C>G	ENSP00000373195:p.Ser300*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S300*	ENST00000356526.2	37	c.899	CCDS33799.1	3	.	.	.	.	.	.	.	.	.	.	-	9.282	1.048372	0.19827	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	.	.	.	2.48	2.48	0.30137	.	0.216459	0.23541	N	0.047070	.	.	.	.	.	.	0.26942	N	0.966221	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.7066	0.45958	0.0:1.0:0.0:0.0	.	.	.	.	X	300	.	ENSP00000373195:S300X	S	+	2	0	OR5H15	99371132	0.229000	0.23729	0.003000	0.11579	0.005000	0.04900	1.325000	0.33724	1.386000	0.46466	0.184000	0.17185	TCA	OR5H15	-	NULL	ENSG00000233412		0.308	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H15	HGNC	protein_coding	OTTHUMT00000359109.1	-	0.00	38	0	C			97888442	+1	tier1	-	no_errors	ENST00000356526	ensembl	human	known	74_37	nonsense	13.64	38	6	SNP	0.001	G
PALM2	114299	genome.wustl.edu	37	9	112705193	112705193	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr9:112705193C>A	ENST00000374531.2	+	7	702	c.628C>A	c.(628-630)Caa>Aaa	p.Q210K	PALM2_ENST00000314527.4_Missense_Mutation_p.Q242K|AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.Q208K|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000448454.2_Missense_Mutation_p.Q244K|PALM2-AKAP2_ENST00000374530.3_Intron	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	210					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						GAAGGCTGGACAATCAAGCTT	0.478																																																	0													90.0	78.0	82.0					9																	112705193		2203	4300	6503	SO:0001583	missense	0			AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.628C>A	9.37:g.112705193C>A	ENSP00000363656:p.Gln210Lys		A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	pfam_Paralemmin	p.Q244K	ENST00000374531.2	37	c.730	CCDS35099.1	9	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159284	0.57368	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000413420	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	6.17	6.17	0.99709	.	.	.	.	.	T	0.25568	0.0622	L	0.44542	1.39	0.80722	D	1	P;P	0.48162	0.828;0.906	P;P	0.47251	0.542;0.542	T	0.00071	-1.2131	9	0.59425	D	0.04	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	210;244	Q8IXS6;D3YTA4	PALM2_HUMAN;.	K	210;244;208;242;242	ENSP00000363656:Q210K;ENSP00000400206:Q244K;ENSP00000417525:Q208K;ENSP00000323805:Q242K;ENSP00000397839:Q242K	ENSP00000397839:Q242K	Q	+	1	0	PALM2-AKAP2;PALM2	111745014	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.025000	0.70864	2.941000	0.99782	0.655000	0.94253	CAA	PALM2	-	pfam_Paralemmin	ENSG00000243444		0.478	PALM2-002	KNOWN	basic|CCDS	protein_coding	PALM2	HGNC	protein_coding	OTTHUMT00000053604.1	-	0.00	22	0	C	NM_001037293		112705193	+1	tier1	-	no_errors	ENST00000448454	ensembl	human	known	74_37	missense	36.36	14	8	SNP	1.000	A
PARD6B	84612	genome.wustl.edu	37	20	49366851	49366851	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr20:49366851G>C	ENST00000371610.2	+	3	1188	c.945G>C	c.(943-945)gaG>gaC	p.E315D	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	315					axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						CTAATACTGAGAGCCTGGAGT	0.443																																																	0													114.0	108.0	110.0					20																	49366851		2203	4300	6503	SO:0001583	missense	0			AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"""par-6 (partitioning defective 6, C.elegans) homolog beta"", ""par-6 partitioning defective 6 homolog beta (C. elegans)"""			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.945G>C	20.37:g.49366851G>C	ENSP00000360672:p.Glu315Asp		A2A2A7|Q9Y510	Missense_Mutation	SNP	pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ	p.E315D	ENST00000371610.2	37	c.945	CCDS33485.1	20	.	.	.	.	.	.	.	.	.	.	G	8.068	0.769553	0.15983	.	.	ENSG00000124171	ENST00000371610	T	0.14516	2.5	5.73	2.68	0.31781	.	0.495363	0.21989	N	0.066196	T	0.10551	0.0258	L	0.51422	1.61	0.80722	D	1	B	0.16166	0.016	B	0.14023	0.01	T	0.15780	-1.0425	10	0.12430	T	0.62	-10.6563	6.0685	0.19875	0.2647:0.1347:0.6007:0.0	.	315	Q9BYG5	PAR6B_HUMAN	D	315	ENSP00000360672:E315D	ENSP00000360672:E315D	E	+	3	2	PARD6B	48800258	0.952000	0.32445	0.681000	0.30009	0.302000	0.27658	0.686000	0.25392	0.333000	0.23563	0.591000	0.81541	GAG	PARD6B	-	NULL	ENSG00000124171		0.443	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARD6B	HGNC	protein_coding	OTTHUMT00000079697.2	-	0.00	49	0	G	NM_032521		49366851	+1	tier1	-	no_errors	ENST00000371610	ensembl	human	known	74_37	missense	35.48	20	11	SNP	0.948	C
PARD6B	84612	genome.wustl.edu	37	20	49367006	49367006	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr20:49367006G>A	ENST00000371610.2	+	3	1343	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	367					axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						GAAGAAGATGGAACAATCATA	0.383																																																	0													45.0	43.0	44.0					20																	49367006		2203	4300	6503	SO:0001583	missense	0			AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"""par-6 (partitioning defective 6, C.elegans) homolog beta"", ""par-6 partitioning defective 6 homolog beta (C. elegans)"""			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.1100G>A	20.37:g.49367006G>A	ENSP00000360672:p.Gly367Glu		A2A2A7|Q9Y510	Missense_Mutation	SNP	pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ	p.G367E	ENST00000371610.2	37	c.1100	CCDS33485.1	20	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816293	0.90790	.	.	ENSG00000124171	ENST00000371610	T	0.33654	1.4	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.64659	0.2618	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66980	-0.5786	10	0.87932	D	0	-29.6151	19.8928	0.96935	0.0:0.0:1.0:0.0	.	367	Q9BYG5	PAR6B_HUMAN	E	367	ENSP00000360672:G367E	ENSP00000360672:G367E	G	+	2	0	PARD6B	48800413	1.000000	0.71417	0.838000	0.33150	0.841000	0.47740	7.797000	0.85911	2.713000	0.92767	0.591000	0.81541	GGA	PARD6B	-	NULL	ENSG00000124171		0.383	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARD6B	HGNC	protein_coding	OTTHUMT00000079697.2		0.00	17	0	G	NM_032521		49367006	+1			no_errors	ENST00000371610	ensembl	human	known	74_37	missense	46.15	7	6	SNP	1.000	A
PARP4	143	genome.wustl.edu	37	13	25073461	25073461	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr13:25073461G>T	ENST00000381989.3	-	5	560	c.455C>A	c.(454-456)gCa>gAa	p.A152E		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	152					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GTTATATTTTGCAACTTCAAA	0.289																																																	0													36.0	38.0	38.0					13																	25073461		2200	4288	6488	SO:0001583	missense	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.455C>A	13.37:g.25073461G>T	ENSP00000371419:p.Ala152Glu		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.A152E	ENST00000381989.3	37	c.455	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522627	0.64747	.	.	ENSG00000102699	ENST00000381989	T	0.46451	0.87	4.26	3.39	0.38822	.	0.134165	0.49305	D	0.000152	T	0.55924	0.1951	M	0.70275	2.135	0.33615	D	0.604122	D	0.69078	0.997	P	0.60789	0.879	T	0.69312	-0.5178	10	0.72032	D	0.01	-9.7293	9.3663	0.38226	0.11:0.0:0.89:0.0	.	152	Q9UKK3	PARP4_HUMAN	E	152	ENSP00000371419:A152E	ENSP00000371419:A152E	A	-	2	0	PARP4	23971461	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.533000	0.53561	1.133000	0.42147	0.632000	0.83419	GCA	PARP4	-	NULL	ENSG00000102699		0.289	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1		0.00	30	0	G	NM_006437		25073461	-1			no_errors	ENST00000381989	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T
PCDH15	65217	genome.wustl.edu	37	10	56424015	56424015	+	Missense_Mutation	SNP	C	C	T	rs372085398		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr10:56424015C>T	ENST00000320301.6	-	2	402	c.8G>A	c.(7-9)cGa>cAa	p.R3Q	PCDH15_ENST00000361849.3_Missense_Mutation_p.R3Q|PCDH15_ENST00000373965.2_Missense_Mutation_p.R3Q|PCDH15_ENST00000395445.1_Missense_Mutation_p.R3Q|PCDH15_ENST00000395430.1_Missense_Mutation_p.R3Q|PCDH15_ENST00000395432.2_Missense_Mutation_p.R3Q|PCDH15_ENST00000395433.1_Missense_Mutation_p.R3Q|PCDH15_ENST00000395440.1_Missense_Mutation_p.R3Q|PCDH15_ENST00000395446.1_Missense_Mutation_p.R3Q|PCDH15_ENST00000395438.1_Missense_Mutation_p.R3Q|PCDH15_ENST00000437009.1_Missense_Mutation_p.R3Q|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000373955.1_Missense_Mutation_p.R3Q|PCDH15_ENST00000414778.1_Missense_Mutation_p.R3Q|PCDH15_ENST00000373957.3_Missense_Mutation_p.R3Q|PCDH15_ENST00000395442.1_Missense_Mutation_p.R3Q	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	3					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATAAAACTGTCGAAACATCTT	0.378										HNSCC(58;0.16)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18007	0.0		0.0	False		,,,				2504	0.001																0								C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	79.0	71.0	74.0		8,8,8,8,8,8,8,8,8,8,8,8	-1.4	0.4	10		74	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	PCDH15	NM_001142763.1,NM_001142764.1,NM_001142765.1,NM_001142766.1,NM_001142767.1,NM_001142768.1,NM_001142769.1,NM_001142770.1,NM_001142771.1,NM_001142772.1,NM_001142773.1,NM_033056.3	43,43,43,43,43,43,43,43,43,43,43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	3/1963,3/1958,3/1887,3/1953,3/1916,3/1936,3/1791,3/1540,3/1683,3/1678,3/1933,3/1956	56424015	2,13004	2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.8G>A	10.37:g.56424015C>T	ENSP00000322604:p.Arg3Gln		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R3Q	ENST00000320301.6	37	c.8	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	9.080	0.999084	0.19121	0.0	2.33E-4	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955;ENST00000458638	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57595	0.47;0.52;0.41;0.41;0.42;0.66;0.56;0.42;0.39;0.49;0.4;0.4;0.4;0.43;0.54;0.89	5.8	-1.42	0.08913	.	.	.	.	.	T	0.24275	0.0588	N	0.08118	0	0.09310	N	0.999996	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.17465	0.004;0.002;0.002;0.002;0.022;0.002;0.004;0.001;0.008;0.014;0.001;0.0;0.001;0.001;0.002	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.08055	0.001;0.001;0.001;0.001;0.003;0.001;0.001;0.0;0.002;0.002;0.0;0.0;0.001;0.001;0.001	T	0.14896	-1.0456	9	0.21014	T	0.42	.	3.4614	0.07533	0.224:0.069:0.1157:0.5913	.	3;3;3;3;3;3;3;3;3;3;3;3;3;3;3	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	Q	3	ENSP00000363076:R3Q;ENSP00000410304:R3Q;ENSP00000378826:R3Q;ENSP00000378832:R3Q;ENSP00000378833:R3Q;ENSP00000378829:R3Q;ENSP00000378827:R3Q;ENSP00000378820:R3Q;ENSP00000354950:R3Q;ENSP00000378821:R3Q;ENSP00000363068:R3Q;ENSP00000322604:R3Q;ENSP00000378818:R3Q;ENSP00000412628:R3Q;ENSP00000363066:R3Q;ENSP00000394465:R3Q	ENSP00000322604:R3Q	R	-	2	0	PCDH15	56094021	0.947000	0.32204	0.380000	0.26093	0.529000	0.34654	0.274000	0.18680	-0.426000	0.07360	-1.671000	0.00744	CGA	PCDH15	-	NULL	ENSG00000150275		0.378	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0.00	36	0	C	NM_033056		56424015	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	66.67	7	14	SNP	0.978	T
CFAP221	200373	genome.wustl.edu	37	2	120395988	120395988	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:120395988C>T	ENST00000413369.3	+	20	2215	c.2128C>T	c.(2128-2130)Cac>Tac	p.H710Y	PCDP1_ENST00000602047.1_Missense_Mutation_p.H424Y	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					GTTTCTCCATCACACGGTAAT	0.542																																																	0													94.0	89.0	91.0					2																	120395988		2203	4300	6503	SO:0001583	missense	0																														ENST00000413369.3:c.2128C>T	2.37:g.120395988C>T	ENSP00000393222:p.His710Tyr			Missense_Mutation	SNP	NULL	p.H710Y	ENST00000413369.3	37	c.2128	CCDS33282.2	2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363848	0.82353	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.14893	2.47	5.4	5.4	0.78164	.	0.176285	0.37577	N	0.002032	T	0.31199	0.0789	L	0.42245	1.32	0.80722	D	1	D	0.71674	0.998	P	0.62014	0.897	T	0.00496	-1.1705	10	0.62326	D	0.03	-26.5225	14.5504	0.68061	0.0:1.0:0.0:0.0	.	710	Q4G0U5	PCDP1_HUMAN	Y	424;710	ENSP00000393222:H710Y	ENSP00000295220:H424Y	H	+	1	0	AC069154.2	120112458	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.324000	0.59228	2.805000	0.96524	0.655000	0.94253	CAC	PCDP1	-	NULL	ENSG00000163075		0.542	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCDP1	Uniprot_gn	protein_coding	OTTHUMT00000464236.1		0.00	54	0	C			120395988	+1			no_errors	ENST00000413369	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	T
PKD2	5311	genome.wustl.edu	37	4	88989068	88989068	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:88989068C>G	ENST00000508588.1	+	8	1026	c.631C>G	c.(631-633)Cac>Gac	p.H211D	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000237596.2_Missense_Mutation_p.H793D|PKD2_ENST00000502363.1_Missense_Mutation_p.H211D			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GGATTTGGATCACAGTTCTTT	0.532																																																	0													117.0	104.0	108.0					4																	88989068		2203	4300	6503	SO:0001583	missense	0			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.631C>G	4.37:g.88989068C>G	ENSP00000427131:p.His211Asp		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1	p.H793D	ENST00000508588.1	37	c.2377		4	.	.	.	.	.	.	.	.	.	.	C	9.401	1.078134	0.20227	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;T;T	0.71579	-0.58;-0.58;-0.58	5.68	5.68	0.88126	.	0.110429	0.64402	D	0.000013	T	0.55609	0.1931	N	0.22421	0.69	0.44227	D	0.997067	P	0.42827	0.791	B	0.35114	0.196	T	0.62358	-0.6871	10	0.54805	T	0.06	-27.0673	14.508	0.67764	0.1819:0.818:0.0:0.0	.	793	Q13563	PKD2_HUMAN	D	793;211;211	ENSP00000237596:H793D;ENSP00000427131:H211D;ENSP00000425289:H211D	ENSP00000237596:H793D	H	+	1	0	PKD2	89208092	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	4.413000	0.59795	2.668000	0.90789	0.563000	0.77884	CAC	PKD2	-	NULL	ENSG00000118762		0.532	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	PKD2	HGNC	protein_coding	OTTHUMT00000363253.2	-	0.00	48	0	C	NM_000297		88989068	+1	tier1	-	no_errors	ENST00000237596	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	G
PKHD1	5314	genome.wustl.edu	37	6	51893109	51893109	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:51893109G>C	ENST00000371117.3	-	30	3680	c.3405C>G	c.(3403-3405)aaC>aaG	p.N1135K	PKHD1_ENST00000340994.4_Missense_Mutation_p.N1135K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1135	IPT/TIG 6; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AATCCGTATAGTTCATCAGCC	0.567																																																	0													92.0	94.0	94.0					6																	51893109		2203	4300	6503	SO:0001583	missense	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3405C>G	6.37:g.51893109G>C	ENSP00000360158:p.Asn1135Lys		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.N1135K	ENST00000371117.3	37	c.3405	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967866	0.53507	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87729	-2.1;-2.29	5.7	0.543	0.17179	Cell surface receptor IPT/TIG (1);	0.524824	0.21348	N	0.076014	T	0.76463	0.3991	M	0.69823	2.125	0.09310	N	1	P;P	0.44044	0.825;0.799	P;B	0.44477	0.451;0.276	T	0.68561	-0.5376	10	0.45353	T	0.12	.	5.6918	0.17833	0.2956:0.1308:0.5736:0.0	.	1135;1135	P08F94-2;P08F94	.;PKHD1_HUMAN	K	1135	ENSP00000360158:N1135K;ENSP00000341097:N1135K	ENSP00000341097:N1135K	N	-	3	2	PKHD1	52001068	0.000000	0.05858	0.006000	0.13384	0.028000	0.11728	0.523000	0.22925	0.346000	0.23899	0.655000	0.94253	AAC	PKHD1	-	superfamily_Ig_E-set,smart_IPT	ENSG00000170927		0.567	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1		0.00	43	0	G	NM_138694		51893109	-1			no_errors	ENST00000371117	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.003	C
PLCH1	23007	genome.wustl.edu	37	3	155267678	155267678	+	Silent	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:155267678C>T	ENST00000340059.7	-	9	1223	c.1224G>A	c.(1222-1224)ctG>ctA	p.L408L	PLCH1_ENST00000494598.1_Silent_p.L408L|PLCH1_ENST00000334686.6_Silent_p.L390L|PLCH1_ENST00000447496.2_Silent_p.L408L|PLCH1_ENST00000460012.1_Silent_p.L390L|PLCH1_ENST00000414191.1_Silent_p.L390L	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	408	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATATTCCTTTCAGGTACTGAG	0.448																																																	0													114.0	107.0	109.0					3																	155267678		2203	4300	6503	SO:0001819	synonymous_variant	0			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1224G>A	3.37:g.155267678C>T			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.L408	ENST00000340059.7	37	c.1224	CCDS46939.1	3																																																																																			PLCH1	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	ENSG00000114805		0.448	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1		0.00	52	0	C	NM_014996		155267678	-1			no_errors	ENST00000340059	ensembl	human	known	74_37	silent	5.77	49	3	SNP	0.998	T
PLXDC2	84898	genome.wustl.edu	37	10	20568836	20568836	+	3'UTR	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr10:20568836C>T	ENST00000377252.4	+	0	2519				PLXDC2_ENST00000377242.3_3'UTR|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2						multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						caaacaaacacacacacaaac	0.378																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.*88C>T	10.37:g.20568836C>T			Q96E59|Q96PD9|Q96SU9	RNA	SNP	-	NULL	ENST00000377252.4	37	NULL	CCDS7132.1	10																																																																																			PLXDC2	-	-	ENSG00000120594		0.378	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC2	HGNC	protein_coding	OTTHUMT00000047101.2	-	0.00	14	0	C	NM_032812		20568836	+1	tier1	-	no_errors	ENST00000377238	ensembl	human	known	74_37	rna	35.71	9	5	SNP	0.220	T
POLR3A	11128	genome.wustl.edu	37	10	79739971	79739971	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr10:79739971G>T	ENST00000372371.3	-	30	4089	c.3952C>A	c.(3952-3954)Ctg>Atg	p.L1318M		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1318					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AAGGAGGCCAGCATCAGCACA	0.527																																																	0													175.0	126.0	143.0					10																	79739971		2203	4300	6503	SO:0001583	missense	0			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.3952C>A	10.37:g.79739971G>T	ENSP00000361446:p.Leu1318Met		Q8IW34|Q8TCW5	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N	p.L1318M	ENST00000372371.3	37	c.3952	CCDS7354.1	10	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824330	0.71143	.	.	ENSG00000148606	ENST00000539141;ENST00000372371;ENST00000540842	T	0.68479	-0.33	5.84	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.81059	0.4744	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81093	-0.1089	9	.	.	.	-16.6827	10.835	0.46681	0.1593:0.0:0.8407:0.0	.	1318	O14802	RPC1_HUMAN	M	134;1318;1297	ENSP00000361446:L1318M	.	L	-	1	2	POLR3A	79409977	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.794000	0.47853	0.743000	0.32719	-0.345000	0.07892	CTG	POLR3A	-	NULL	ENSG00000148606		0.527	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1	-	0.00	40	0	G	NM_007055		79739971	-1	tier1	-	no_errors	ENST00000372371	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	T
POU5F2	134187	genome.wustl.edu	37	5	93076323	93076323	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr5:93076323G>A	ENST00000510627.4	-	1	1020	c.947C>T	c.(946-948)tCc>tTc	p.S316F	RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	316					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		TGGGGCAGAGGAGTGGGCTAC	0.612																																																	0													37.0	40.0	39.0					5																	93076323		1875	4101	5976	SO:0001583	missense	0				CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.947C>T	5.37:g.93076323G>A	ENSP00000464890:p.Ser316Phe		Q15169|Q6MZL7|Q8N748	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.S316F	ENST00000510627.4	37	c.947	CCDS59489.1	5																																																																																			POU5F2	-	NULL	ENSG00000248483		0.612	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F2	HGNC	protein_coding	OTTHUMT00000369873.5	-	0.00	27	0	G	NM_153216		93076323	-1	tier1	-	no_errors	ENST00000510627	ensembl	human	known	74_37	missense	14.29	18	3	SNP	0.000	A
POU6F2	11281	genome.wustl.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr7:39379288_39379290delCAG	ENST00000403058.1	+	6	713_715	c.559_561delCAG	c.(559-561)cagdel	p.Q196del	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000518318.2_In_Frame_Del_p.Q196del	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728). {ECO:0000305}.	central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gctccagctccagcagcagcagc	0.616																																																	0																																										SO:0001651	inframe_deletion	0			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.559_561delCAG	7.37:g.39379297_39379299delCAG	ENSP00000384004:p.Gln196del		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	In_Frame_Del	DEL	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.Q190in_frame_del	ENST00000403058.1	37	c.559_561	CCDS34620.2	7																																																																																			POU6F2	-	NULL	ENSG00000106536		0.616	POU6F2-002	KNOWN	basic|CCDS	protein_coding	POU6F2	HGNC	protein_coding	OTTHUMT00000320146.3		0.00	57	0	CAG	NM_007252		39379290	+1	tier1		no_errors	ENST00000403058	ensembl	human	known	74_37	in_frame_del	11.43	31	4	DEL	0.172:0.153:0.157	-
PRSS3	5646	genome.wustl.edu	37	9	33797844	33797844	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr9:33797844T>A	ENST00000361005.5	+	3	389	c.389T>A	c.(388-390)cTg>cAg	p.L130Q	PRSS3_ENST00000342836.4_Missense_Mutation_p.L87Q|PRSS3_ENST00000379405.3_Missense_Mutation_p.L73Q|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Missense_Mutation_p.L66Q	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	130	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CAGGTGAGACTGGGAGAGCAC	0.577																																																	0													131.0	118.0	122.0					9																	33797844		2203	4300	6503	SO:0001583	missense	0				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.389T>A	9.37:g.33797844T>A	ENSP00000354280:p.Leu130Gln		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L130Q	ENST00000361005.5	37	c.389	CCDS47958.1	9	.	.	.	.	.	.	.	.	.	.	T	15.10	2.731939	0.48939	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76	3.62	3.62	0.41486	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.96473	0.8849	H	0.96691	3.865	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.96539	0.9399	10	0.87932	D	0	.	10.4595	0.44570	0.0:0.0:0.0:1.0	.	73;130;87	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	Q	130;85;87;66;73	ENSP00000354280:L130Q;ENSP00000401249:L85Q;ENSP00000340889:L87Q;ENSP00000401828:L66Q;ENSP00000368715:L73Q	ENSP00000340889:L87Q	L	+	2	0	PRSS3	33787844	1.000000	0.71417	0.996000	0.52242	0.150000	0.21749	7.105000	0.77031	1.420000	0.47138	0.260000	0.18958	CTG	PRSS3	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000010438		0.577	PRSS3-003	KNOWN	basic|CCDS	protein_coding	PRSS3	HGNC	protein_coding	OTTHUMT00000052121.1	-	0.00	88	0	T	NM_002771		33797844	+1	tier1	-	no_errors	ENST00000361005	ensembl	human	known	74_37	missense	15.56	38	7	SNP	1.000	A
PTMA	5757	genome.wustl.edu	37	2	232577559	232577559	+	Nonstop_Mutation	SNP	T	T	C			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:232577559T>C	ENST00000341369.7	+	5	525	c.334T>C	c.(334-336)Tag>Cag	p.*112Q	PTMA_ENST00000410064.1_Nonstop_Mutation_p.*137Q|PTMA_ENST00000409321.1_Nonstop_Mutation_p.*132Q|PTMA_ENST00000409115.3_Nonstop_Mutation_p.*111Q|PTMA_ENST00000466801.1_3'UTR|PTMA_ENST00000409683.1_Nonstop_Mutation_p.*108Q	NM_001099285.1	NP_001092755.1	P06454	PTMA_HUMAN	prothymosin, alpha	0					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.*111Q(1)		lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CGAGGATGACTAGACAGCAAA	0.488																																																	1	Nonstop extension(1)	lung(1)											31.0	33.0	32.0					2																	232577559		1827	4058	5885	SO:0001578	stop_lost	0				CCDS42833.1, CCDS46541.1	2q37.1	2008-07-04	2008-04-03		ENSG00000187514	ENSG00000187514			9623	protein-coding gene	gene with protein product	"""gene sequence 28"""	188390	"""prothymosin, alpha (gene sequence 28)"""	TMSA		1612591	Standard	NM_002823		Approved		uc002vsc.4	P06454	OTTHUMG00000153810	ENST00000341369.7:c.334T>C	2.37:g.232577559T>C	ENSP00000344547:p.*112Glnext*9		Q15249|Q15592	Nonstop_Mutation	SNP	pfam_Pro/parathymosin	p.*112Q	ENST00000341369.7	37	c.334	CCDS42833.1	2	.	.	.	.	.	.	.	.	.	.	T	17.49	3.401486	0.62288	.	.	ENSG00000187514	ENST00000409321;ENST00000409115;ENST00000341369;ENST00000409683;ENST00000410064;ENST00000358839	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5441	0.61693	0.0:0.0:0.0:1.0	.	.	.	.	Q	132;111;112;108;137;136	.	.	X	+	1	0	PTMA	232285803	0.998000	0.40836	1.000000	0.80357	0.978000	0.69477	5.170000	0.64990	1.855000	0.53841	0.448000	0.29417	TAG	PTMA	-	NULL	ENSG00000187514		0.488	PTMA-002	KNOWN	basic|CCDS	protein_coding	PTMA	HGNC	protein_coding	OTTHUMT00000332553.1		0.00	22	0	T			232577559	+1			no_errors	ENST00000341369	ensembl	human	known	74_37	nonstop	11.54	23	3	SNP	1.000	C
RAB8B	51762	genome.wustl.edu	37	15	63548779	63548779	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr15:63548779G>C	ENST00000321437.4	+	5	556	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q	RAB8B_ENST00000448330.2_Missense_Mutation_p.E134Q	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	134					adherens junction organization (GO:0034332)|antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|positive regulation of cell projection organization (GO:0031346)|positive regulation of corticotropin secretion (GO:0051461)|protein import into peroxisome membrane (GO:0045046)|small GTPase mediated signal transduction (GO:0007264)	cell tip (GO:0051286)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						AGTGTCAAAAGAAAGAGGGGA	0.343																																																	0													100.0	95.0	97.0					15																	63548779		2203	4300	6503	SO:0001583	missense	0			AL833365	CCDS10183.1	15q22	2008-11-18			ENSG00000166128	ENSG00000166128		"""RAB, member RAS oncogene"""	30273	protein-coding gene	gene with protein product		613532				9030196, 18772196	Standard	XM_006720569		Approved		uc002alz.3	Q92930	OTTHUMG00000132862	ENST00000321437.4:c.400G>C	15.37:g.63548779G>C	ENSP00000312734:p.Glu134Gln		Q5JPC4|Q9P293	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E134Q	ENST00000321437.4	37	c.400	CCDS10183.1	15	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994485	0.93167	.	.	ENSG00000166128	ENST00000321437;ENST00000448330	T;T	0.78246	-1.16;-1.16	5.61	5.61	0.85477	Small GTP-binding protein domain (1);	0.042575	0.85682	D	0.000000	T	0.73674	0.3617	L	0.33668	1.02	0.80722	D	1	B;B	0.20550	0.022;0.046	B;B	0.31290	0.049;0.127	T	0.68588	-0.5369	10	0.44086	T	0.13	.	18.6317	0.91361	0.0:0.0:1.0:0.0	.	134;134	F5GY21;Q92930	.;RAB8B_HUMAN	Q	134	ENSP00000312734:E134Q;ENSP00000405463:E134Q	ENSP00000312734:E134Q	E	+	1	0	RAB8B	61335832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.638000	0.89438	0.655000	0.94253	GAA	RAB8B	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000166128		0.343	RAB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB8B	HGNC	protein_coding	OTTHUMT00000256336.1		0.00	42	0	G	NM_016530		63548779	+1			no_errors	ENST00000321437	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	C
RBMS2	5939	genome.wustl.edu	37	12	56965518	56965518	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:56965518A>G	ENST00000262031.5	+	5	516	c.421A>G	c.(421-423)Aac>Gac	p.N141D	RBMS2_ENST00000542360.1_Intron|RBMS2_ENST00000552247.2_Missense_Mutation_p.N141D|RBMS2_ENST00000550726.1_Missense_Mutation_p.N16D	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	141	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						ATACATCTCAAACCTCCCACT	0.512																																																	0													84.0	81.0	82.0					12																	56965518		2203	4300	6503	SO:0001583	missense	0			D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"""RNA binding motif (RRM) containing"""	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.421A>G	12.37:g.56965518A>G	ENSP00000262031:p.Asn141Asp			Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.N141D	ENST00000262031.5	37	c.421	CCDS8923.1	12	.	.	.	.	.	.	.	.	.	.	A	27.8	4.860069	0.91433	.	.	ENSG00000076067	ENST00000262031;ENST00000552247;ENST00000550726	T;D;D	0.82081	1.68;-1.57;-1.57	4.78	4.78	0.61160	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.088405	0.85682	D	0.000000	D	0.92303	0.7558	M	0.91972	3.26	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	D	0.93765	0.7070	10	0.72032	D	0.01	.	13.7153	0.62693	1.0:0.0:0.0:0.0	.	141	Q15434	RBMS2_HUMAN	D	141;141;16	ENSP00000262031:N141D;ENSP00000447426:N141D;ENSP00000449678:N16D	ENSP00000262031:N141D	N	+	1	0	RBMS2	55251785	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.949000	0.93012	2.150000	0.67090	0.402000	0.26972	AAC	RBMS2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000076067		0.512	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMS2	HGNC	protein_coding	OTTHUMT00000409366.2	-	0.00	31	0	A	NM_002898		56965518	+1	tier1	-	no_errors	ENST00000262031	ensembl	human	known	74_37	missense	62.22	17	28	SNP	1.000	G
REPS1	85021	genome.wustl.edu	37	6	139238693	139238693	+	Splice_Site	SNP	T	T	C			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:139238693T>C	ENST00000450536.2	-	13	2174	c.1600A>G	c.(1600-1602)Agg>Ggg	p.R534G	REPS1_ENST00000415951.2_Splice_Site_p.R507G|REPS1_ENST00000367663.4_Splice_Site_p.R507G|REPS1_ENST00000258062.5_Splice_Site_p.R533G|REPS1_ENST00000409812.2_Intron			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	534					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		AATACTGACCTTTGACGAGTT	0.348																																																	0													125.0	116.0	119.0					6																	139238693		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.1601+1A>G	6.37:g.139238693T>C			B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.R534G	ENST00000450536.2	37	c.1600		6	.	.	.	.	.	.	.	.	.	.	T	20.3	3.965824	0.74131	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T	0.36699	1.24;1.25;1.28;1.26;1.26	5.27	4.07	0.47477	.	0.044908	0.85682	D	0.000000	T	0.45617	0.1351	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.67145	0.996;0.994;0.993;0.981	D;D;D;D	0.77557	0.99;0.983;0.977;0.966	T	0.39313	-0.9620	10	0.35671	T	0.21	-9.8327	9.7004	0.40182	0.0:0.0:0.3218:0.6782	.	533;482;534;507	Q96D71-3;B2R7D3;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	G	534;507;492;533;507;482	ENSP00000392065:R534G;ENSP00000356635:R507G;ENSP00000434251:R492G;ENSP00000258062:R533G;ENSP00000397941:R507G	ENSP00000258062:R533G	R	-	1	2	REPS1	139280386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.201000	0.58439	2.116000	0.64780	0.460000	0.39030	AGG	REPS1	-	NULL	ENSG00000135597		0.348	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	REPS1	HGNC	protein_coding	OTTHUMT00000042447.3	-	0.00	56	0	T		Missense_Mutation	139238693	-1	tier1	-	no_errors	ENST00000450536	ensembl	human	known	74_37	missense	42.65	39	29	SNP	1.000	C
CLDN2	9075	genome.wustl.edu	37	X	106145440	106145440	+	Intron	SNP	G	G	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chrX:106145440G>T	ENST00000541806.1	+	1	341				RIPPLY1_ENST00000411805.1_Intron|RIPPLY1_ENST00000276173.4_Missense_Mutation_p.T54N	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2						calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CCAGAGACAAGTTCCTCTGGG	0.527																																																	0													55.0	51.0	52.0					X																	106145440		1958	4131	6089	SO:0001627	intron_variant	0			AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.-179+1706G>T	X.37:g.106145440G>T			B2R6B9	Missense_Mutation	SNP	NULL	p.T54N	ENST00000541806.1	37	c.161	CCDS14524.1	X	.	.	.	.	.	.	.	.	.	.	G	9.678	1.148518	0.21288	.	.	ENSG00000147223	ENST00000276173	.	.	.	4.06	1.2	0.21068	.	1.020290	0.07876	N	0.968671	T	0.17789	0.0427	N	0.08118	0	0.09310	N	1	B	0.18968	0.032	B	0.21917	0.037	T	0.27905	-1.0060	9	0.51188	T	0.08	.	1.8776	0.03221	0.1194:0.2009:0.469:0.2107	.	54	Q0D2K3	RIPP1_HUMAN	N	54	.	ENSP00000276173:T54N	T	-	2	0	RIPPLY1	106032096	0.001000	0.12720	0.013000	0.15412	0.765000	0.43378	0.727000	0.25999	0.116000	0.18110	0.436000	0.28706	ACT	RIPPLY1	-	NULL	ENSG00000147223		0.527	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPPLY1	HGNC	protein_coding	OTTHUMT00000057815.1		0.00	16	0	G			106145440	-1			no_errors	ENST00000276173	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.016	T
TATDN1	83940	genome.wustl.edu	37	8	125498688	125498688	+	IGR	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr8:125498688C>T	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Silent_p.F266F|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.F266F(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGATTCCTTCTTTATTTCTT	0.393																																																	1	Substitution - coding silent(1)	lung(1)											142.0	127.0	132.0					8																	125498688		2203	4300	6503	SO:0001628	intergenic_variant	0			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125498688C>T			B2R5J0|Q8TD02|Q9BY40	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.F266	ENST00000276692.6	37	c.798	CCDS6351.1	8																																																																																			RNF139	-	NULL	ENSG00000170881		0.393	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF139	HGNC	protein_coding	OTTHUMT00000381655.1	-	0.00	18	0	C	NM_032026		125498688	+1	tier1	-	no_errors	ENST00000303545	ensembl	human	known	74_37	silent	39.13	14	9	SNP	0.988	T
RNF25	64320	genome.wustl.edu	37	2	219529070	219529070	+	Silent	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:219529070G>A	ENST00000295704.2	-	10	1430	c.990C>T	c.(988-990)ggC>ggT	p.G330G		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	330					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTGGGTTTCGCCCAACCTTT	0.602																																																	0													77.0	83.0	81.0					2																	219529070		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.990C>T	2.37:g.219529070G>A			A8K0D6|Q53HQ5|Q9H874	Silent	SNP	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_RING,pfscan_RWD-domain,pfscan_Znf_RING	p.G330	ENST00000295704.2	37	c.990	CCDS2420.1	2																																																																																			RNF25	-	NULL	ENSG00000163481		0.602	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF25	HGNC	protein_coding	OTTHUMT00000256721.1	-	0.00	89	0	G	NM_022453		219529070	-1	tier1	-	no_errors	ENST00000295704	ensembl	human	known	74_37	silent	35.90	50	28	SNP	0.874	A
RP1L1	94137	genome.wustl.edu	37	8	10466069	10466069	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr8:10466069C>G	ENST00000382483.3	-	4	5762	c.5539G>C	c.(5539-5541)Gag>Cag	p.E1847Q		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1927					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTTCTGACTCTGGCTGGGCC	0.637																																																	0													159.0	174.0	170.0					8																	10466069		1937	4124	6061	SO:0001583	missense	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5539G>C	8.37:g.10466069C>G	ENSP00000371923:p.Glu1847Gln		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.E1847Q	ENST00000382483.3	37	c.5539	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325613	0.24080	.	.	ENSG00000183638	ENST00000382483	T	0.08282	3.11	3.37	1.44	0.22558	.	.	.	.	.	T	0.08846	0.0219	N	0.19112	0.55	0.09310	N	1	D	0.65815	0.995	P	0.53185	0.72	T	0.33343	-0.9872	9	0.39692	T	0.17	.	6.9964	0.24784	0.0:0.7069:0.0:0.2931	.	1847	A6NKC6	.	Q	1847	ENSP00000371923:E1847Q	ENSP00000371923:E1847Q	E	-	1	0	RP1L1	10503479	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.096000	0.11059	1.412000	0.46977	0.400000	0.26472	GAG	RP1L1	-	NULL	ENSG00000183638		0.637	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	-	0.00	91	0	C			10466069	-1	tier1	-	no_errors	ENST00000382483	ensembl	human	known	74_37	missense	27.69	47	18	SNP	0.001	G
RP1L1	94137	genome.wustl.edu	37	8	10466966	10466966	+	Missense_Mutation	SNP	G	G	T	rs574264133		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr8:10466966G>T	ENST00000382483.3	-	4	4865	c.4642C>A	c.(4642-4644)Cag>Aag	p.Q1548K		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1628					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCATTGTCCTGCAGGCCCCAG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		17171	0.001		0.0	False		,,,				2504	0.0																0													18.0	21.0	20.0					8																	10466966		2120	4229	6349	SO:0001583	missense	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4642C>A	8.37:g.10466966G>T	ENSP00000371923:p.Gln1548Lys		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.Q1548K	ENST00000382483.3	37	c.4642	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	G	7.656	0.684024	0.14907	.	.	ENSG00000183638	ENST00000382483	T	0.04603	3.59	5.32	3.51	0.40186	.	0.264537	0.20176	U	0.097625	T	0.03520	0.0101	L	0.32530	0.975	0.09310	N	1	P	0.39116	0.66	B	0.29785	0.107	T	0.42310	-0.9459	10	0.45353	T	0.12	-4.656	8.239	0.31650	0.0816:0.3023:0.6161:0.0	.	1548	A6NKC6	.	K	1548	ENSP00000371923:Q1548K	ENSP00000371923:Q1548K	Q	-	1	0	RP1L1	10504376	0.845000	0.29573	0.029000	0.17559	0.018000	0.09664	2.885000	0.48570	1.243000	0.43853	0.491000	0.48974	CAG	RP1L1	-	NULL	ENSG00000183638		0.642	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	-	0.00	48	0	G			10466966	-1	tier1	-	no_errors	ENST00000382483	ensembl	human	known	74_37	missense	23.21	43	13	SNP	0.005	T
RPAP2	79871	genome.wustl.edu	37	1	92846387	92846387	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:92846387G>T	ENST00000610020.1	+	12	1904	c.1795G>T	c.(1795-1797)Gaa>Taa	p.E599*		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	599					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TGAAGACCTTGAAAGTCTAAC	0.363																																																	0													116.0	115.0	115.0					1																	92846387		2203	4300	6503	SO:0001587	stop_gained	0			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1795G>T	1.37:g.92846387G>T	ENSP00000476948:p.Glu599*		C9JKB5|Q49AS7|Q9H8Y2	Nonsense_Mutation	SNP	pfam_DUF408	p.E599*	ENST00000610020.1	37	c.1795	CCDS740.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.344524	0.97489	.	.	ENSG00000122484	ENST00000370343	.	.	.	5.74	5.74	0.90152	.	0.176456	0.49916	D	0.000140	.	.	.	.	.	.	0.50632	D	0.999881	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.8896	16.857	0.86009	0.0:0.0:1.0:0.0	.	.	.	.	X	599	.	ENSP00000359368:E599X	E	+	1	0	RPAP2	92618975	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	3.859000	0.55987	2.712000	0.92718	0.650000	0.86243	GAA	RPAP2	-	NULL	ENSG00000122484		0.363	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP2	HGNC	protein_coding	OTTHUMT00000028368.2	-	0.00	56	0	G	NM_024813		92846387	+1	tier1	-	no_errors	ENST00000610020	ensembl	human	known	74_37	nonsense	45.61	31	26	SNP	1.000	T
RPGRIP1L	23322	genome.wustl.edu	37	16	53675262	53675262	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:53675262G>T	ENST00000379925.3	-	18	2859	c.2809C>A	c.(2809-2811)Cgc>Agc	p.R937S	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R937S|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R937S|RPGRIP1L_ENST00000568009.1_5'Flank|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.R937S	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	937			R -> L (in a patient with Leber congenital amaurosis). {ECO:0000269|PubMed:19430481}.		camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCTTCGCTGCGAATGAAATTT	0.383																																																	0													109.0	101.0	104.0					16																	53675262		2198	4300	6498	SO:0001583	missense	0				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.2809C>A	16.37:g.53675262G>T	ENSP00000369257:p.Arg937Ser		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.R937S	ENST00000379925.3	37	c.2809	CCDS32447.1	16	.	.	.	.	.	.	.	.	.	.	G	0.225	-1.025524	0.02061	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.75260	-0.72;-0.92	4.73	-0.824	0.10812	.	1.615770	0.03380	N	0.200268	T	0.50309	0.1608	N	0.08118	0	0.09310	N	1	B;B;B;B	0.15930	0.001;0.0;0.015;0.0	B;B;B;B	0.11329	0.003;0.0;0.006;0.001	T	0.39333	-0.9619	10	0.08599	T	0.76	7.905	5.3487	0.16024	0.3159:0.1357:0.5484:0.0	.	937;937;937;937	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	S	937	ENSP00000369257:R937S;ENSP00000262135:R937S	ENSP00000262135:R937S	R	-	1	0	RPGRIP1L	52232763	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.514000	0.22786	-0.199000	0.10317	-0.229000	0.12294	CGC	RPGRIP1L	-	NULL	ENSG00000103494		0.383	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	RPGRIP1L	HGNC	protein_coding	OTTHUMT00000422187.1		0.00	27	0	G	NM_015272		53675262	-1			no_errors	ENST00000379925	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.000	T
LRRC23	10233	genome.wustl.edu	37	12	6993412	6993412	+	Intron	SNP	G	G	C	rs2365570		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:6993412G>C	ENST00000433346.1	+	2	429				LRRC23_ENST00000449039.1_Intron|DSTNP2_ENST00000602547.1_RNA|SPSB2_ENST00000437851.1_Intron|RPL13P5_ENST00000412023.1_RNA			Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23											NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						GCATTTACAAGAAGGTGGCCC	0.582																																																	0																																										SO:0001627	intron_variant	0			BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000433346.1:c.-50+329G>C	12.37:g.6993412G>C			A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	RNA	SNP	-	NULL	ENST00000433346.1	37	NULL		12																																																																																			RPL13P5	-	-	ENSG00000240370		0.582	LRRC23-011	PUTATIVE	basic	protein_coding	RPL13P5	HGNC	protein_coding	OTTHUMT00000345224.1	-	0.00	62	0	G	NM_006992		6993412	+1	tier1	-	no_errors	ENST00000412023	ensembl	human	known	74_37	rna	6.52	86	6	SNP	1.000	C
RPP21	79897	genome.wustl.edu	37	6	30312963	30312963	+	Silent	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:30312963G>A	ENST00000442966.2	+	1	28	c.15G>A	c.(13-15)gtG>gtA	p.V5V	RPP21_ENST00000433076.2_Silent_p.V5V|RPP21_ENST00000466327.1_3'UTR|TRIM39-RPP21_ENST00000513556.1_Intron|RPP21_ENST00000428040.2_Silent_p.V5V|RPP21_ENST00000436442.2_Silent_p.V5V			Q9H633	RPP21_HUMAN	ribonuclease P/MRP 21kDa subunit	5					response to drug (GO:0042493)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonuclease P activity (GO:0004526)			endometrium(2)|ovary(1)|prostate(1)	4						CGGGGCCGGTGAAGGACCGCG	0.721																																																	0													9.0	13.0	11.0					6																	30312963		2171	4236	6407	SO:0001819	synonymous_variant	0			AK026291	CCDS4679.1, CCDS56409.1, CCDS56410.1	6p21.32	2012-05-21	2007-06-26	2004-03-19	ENSG00000241370	ENSG00000241370			21300	protein-coding gene	gene with protein product		612524	"""chromosome 6 open reading frame 135"", ""ribonuclease P 21kDa subunit"""	C6orf135			Standard	NM_001199120		Approved	FLJ22638, Em:AB014085.3		Q9H633	OTTHUMG00000031220	ENST00000442966.2:c.15G>A	6.37:g.30312963G>A			A2AAZ8|B0S834|B0S835|Q5JPL9|Q5JPM1|Q5STF8|Q5STF9|Q5STG2|Q5SU41|Q5SU42|Q86Y49|Q86Y50|Q86Y51|Q96F16	Silent	SNP	pfam_Rpr2	p.V5	ENST00000442966.2	37	c.15	CCDS4679.1	6																																																																																			RPP21	-	NULL	ENSG00000241370		0.721	RPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPP21	HGNC	protein_coding	OTTHUMT00000076451.2	-	0.00	64	0	G	NM_024839		30312963	+1	tier1	-	no_errors	ENST00000428040	ensembl	human	known	74_37	silent	27.50	29	11	SNP	0.999	A
RTP4	64108	genome.wustl.edu	37	3	187086357	187086357	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:187086357A>T	ENST00000259030.2	+	1	238	c.128A>T	c.(127-129)aAg>aTg	p.K43M		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	43					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CAAGGGTGGAAGCAATACCAA	0.507																																																	0													79.0	69.0	73.0					3																	187086357		2203	4300	6503	SO:0001583	missense	0			BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"""Receptor transporter proteins"""	23992	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 4"""	609350	"""receptor transporter protein 4"""			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.128A>T	3.37:g.187086357A>T	ENSP00000259030:p.Lys43Met		Q9H4F3	Missense_Mutation	SNP	NULL	p.K43M	ENST00000259030.2	37	c.128	CCDS33910.1	3	.	.	.	.	.	.	.	.	.	.	A	17.26	3.343957	0.61073	.	.	ENSG00000136514	ENST00000259030	T	0.22945	1.93	4.07	-0.583	0.11706	.	0.676978	0.14534	N	0.313699	T	0.18800	0.0451	L	0.49350	1.555	0.26317	N	0.977738	P	0.37781	0.608	B	0.32465	0.146	T	0.08994	-1.0695	10	0.44086	T	0.13	-19.4203	8.3185	0.32115	0.3214:0.0:0.6786:0.0	.	43	Q96DX8	RTP4_HUMAN	M	43	ENSP00000259030:K43M	ENSP00000259030:K43M	K	+	2	0	RTP4	188569051	0.988000	0.35896	0.972000	0.41901	0.842000	0.47809	-0.050000	0.11904	-0.108000	0.12066	0.533000	0.62120	AAG	RTP4	-	NULL	ENSG00000136514		0.507	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTP4	HGNC	protein_coding	OTTHUMT00000344260.1	-	0.00	16	0	A	NM_022147		187086357	+1	tier1	-	no_errors	ENST00000259030	ensembl	human	known	74_37	missense	35.00	13	7	SNP	0.978	T
SEC24C	9632	genome.wustl.edu	37	10	75526572	75526572	+	Silent	SNP	A	A	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr10:75526572A>T	ENST00000339365.2	+	14	2016	c.1854A>T	c.(1852-1854)gtA>gtT	p.V618V	SEC24C_ENST00000345254.4_Silent_p.V618V|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Silent_p.V499V	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	618					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CAGAGACAGTATTTGTACCAG	0.438																																																	0													130.0	117.0	121.0					10																	75526572		2203	4300	6503	SO:0001819	synonymous_variant	0			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1854A>T	10.37:g.75526572A>T			B4DZT4|Q8WV25	Silent	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.V618	ENST00000339365.2	37	c.1854	CCDS7332.1	10																																																																																			SEC24C	-	pfam_Sec23/24_trunk_dom	ENSG00000176986		0.438	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24C	HGNC	protein_coding	OTTHUMT00000048679.1	-	0.00	47	0	A			75526572	+1	tier1	-	no_errors	ENST00000339365	ensembl	human	known	74_37	silent	31.03	40	18	SNP	1.000	T
SEPT5	5413	genome.wustl.edu	37	22	19708187	19708187	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr22:19708187C>T	ENST00000455784.2	+	7	738	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	SEPT5_ENST00000383045.3_Missense_Mutation_p.R214W|SEPT5_ENST00000406395.1_Missense_Mutation_p.R205W|SEPT5_ENST00000438754.2_Missense_Mutation_p.R214W|GP1BB_ENST00000366425.3_5'Flank	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	205	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GCTGAAGGAGCGGGTGAGCCT	0.597																																																	0													52.0	50.0	50.0					22																	19708187		2203	4300	6503	SO:0001583	missense	0			Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.613C>T	22.37:g.19708187C>T	ENSP00000391311:p.Arg205Trp		O15251|Q96MY5	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin	p.R214W	ENST00000455784.2	37	c.640	CCDS13764.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.76|14.76	2.630420|2.630420	0.46944|0.46944	.|.	.|.	ENSG00000184702|ENSG00000184702	ENST00000413258|ENST00000455784;ENST00000406395;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754;ENST00000395109	.|T;T;T;T;T;T;T	.|0.54866	.|0.55;0.55;0.55;0.55;0.55;0.55;0.55	3.13|3.13	2.06|2.06	0.26882|0.26882	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75317|0.75317	0.3833|0.3833	M|M	0.92317|0.92317	3.295|3.295	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.79004|0.79004	-0.1980|-0.1980	5|10	.|0.87932	.|D	.|0	.|.	10.2822|10.2822	0.43545|0.43545	0.4402:0.5598:0.0:0.0|0.4402:0.5598:0.0:0.0	.|.	.|205	.|Q99719	.|SEPT5_HUMAN	V|W	70|205;205;158;243;214;214;158	.|ENSP00000391311:R205W;ENSP00000384535:R205W;ENSP00000408678:R158W;ENSP00000414488:R243W;ENSP00000372515:R214W;ENSP00000394541:R214W;ENSP00000378541:R158W	.|ENSP00000372515:R214W	A|R	+|+	2|1	0|2	SEPT5|SEPT5	18088187|18088187	0.924000|0.924000	0.31332|0.31332	0.998000|0.998000	0.56505|0.56505	0.312000|0.312000	0.27988|0.27988	1.653000|1.653000	0.37323|0.37323	0.813000|0.813000	0.34350|0.34350	0.313000|0.313000	0.20887|0.20887	GCG|CGG	SEPT5	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	ENSG00000184702		0.597	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT5	HGNC	protein_coding	OTTHUMT00000317937.1		0.00	55	0	C	NM_002688		19708187	+1			no_errors	ENST00000383045	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.998	T
SH2D3C	10044	genome.wustl.edu	37	9	130506980	130506980	+	Missense_Mutation	SNP	G	G	A	rs375337324		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr9:130506980G>A	ENST00000314830.8	-	7	1776	c.1663C>T	c.(1663-1665)Ccg>Tcg	p.P555S	SH2D3C_ENST00000420366.1_Missense_Mutation_p.P397S|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Missense_Mutation_p.P201S|SH2D3C_ENST00000373276.3_Missense_Mutation_p.P487S|SH2D3C_ENST00000373277.4_Missense_Mutation_p.P398S|SH2D3C_ENST00000373274.3_Missense_Mutation_p.P395S	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	555					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AAGGTGGCCGGGTTGAAGGAA	0.592																																																	0								G	SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO	1,4405	2.1+/-5.4	0,1,2202	114.0	114.0	114.0		601,601,1189,1183,1192,1663	5.4	1.0	9		114	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	SH2D3C	NM_001142531.1,NM_001142532.1,NM_001142533.1,NM_001142534.1,NM_005489.2,NM_170600.2	74,74,74,74,74,74	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	201/507,201/507,397/703,395/701,398/704,555/861	130506980	1,13005	2203	4300	6503	SO:0001583	missense	0			AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1663C>T	9.37:g.130506980G>A	ENSP00000317817:p.Pro555Ser		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.P555S	ENST00000314830.8	37	c.1663	CCDS6877.1	9	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151959	0.78001	2.27E-4	0.0	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27	5.42	5.42	0.78866	.	0.046120	0.85682	D	0.000000	T	0.76877	0.4049	M	0.80183	2.485	0.80722	D	1	D;D;D;P;D	0.71674	0.995;0.998;0.977;0.897;0.996	P;D;P;P;D	0.64776	0.878;0.929;0.694;0.76;0.922	T	0.80039	-0.1549	10	0.72032	D	0.01	-35.3138	18.2064	0.89855	0.0:0.0:1.0:0.0	.	395;555;487;398;397	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	S	398;397;487;395;201;555	ENSP00000362374:P398S;ENSP00000388536:P397S;ENSP00000362373:P487S;ENSP00000362371:P395S;ENSP00000394632:P201S;ENSP00000317817:P555S	ENSP00000317817:P555S	P	-	1	0	SH2D3C	129546801	1.000000	0.71417	0.980000	0.43619	0.417000	0.31264	5.858000	0.69532	2.538000	0.85594	0.561000	0.74099	CCG	SH2D3C	-	NULL	ENSG00000095370		0.592	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH2D3C	HGNC	protein_coding	OTTHUMT00000054264.1	-	0.00	44	0	G	NM_005489		130506980	-1	tier1	-	no_errors	ENST00000314830	ensembl	human	known	74_37	missense	40.00	24	16	SNP	1.000	A
SLC25A15	10166	genome.wustl.edu	37	13	41379274	41379274	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr13:41379274C>G	ENST00000338625.4	+	4	571	c.335C>G	c.(334-336)gCc>gGc	p.A112G	SLC25A15_ENST00000478827.1_3'UTR	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	112					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|L-ornithine transmembrane transport (GO:1903352)|mitochondrial ornithine transport (GO:0000066)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	L-ornithine transmembrane transporter activity (GO:0000064)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	AATGCAGCCGCCGGTTCCTTC	0.547																																																	0													92.0	85.0	87.0					13																	41379274		2203	4300	6503	SO:0001583	missense	0			AF112968	CCDS9373.1	13q14	2013-05-22			ENSG00000102743	ENSG00000102743		"""Solute carriers"""	10985	protein-coding gene	gene with protein product	"""ornithine transporter 1"""	603861		ORNT1, HHH		10369256	Standard	NM_014252		Approved	ORC1, D13S327	uc001uxn.3	Q9Y619	OTTHUMG00000016776	ENST00000338625.4:c.335C>G	13.37:g.41379274C>G	ENSP00000342267:p.Ala112Gly		Q5VZD8|Q9HC45	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.A112G	ENST00000338625.4	37	c.335	CCDS9373.1	13	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091574	0.76756	.	.	ENSG00000102743	ENST00000338625;ENST00000443985	D	0.82711	-1.64	5.62	5.62	0.85841	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.91341	0.7269	M	0.82056	2.57	0.80722	D	1	D;D	0.63046	0.971;0.992	D;D	0.68039	0.955;0.938	D	0.91961	0.5579	10	0.72032	D	0.01	.	18.6386	0.91386	0.0:1.0:0.0:0.0	.	52;112	B4DL63;Q9Y619	.;ORNT1_HUMAN	G	112;52	ENSP00000342267:A112G	ENSP00000342267:A112G	A	+	2	0	SLC25A15	40277274	1.000000	0.71417	0.136000	0.22124	0.312000	0.27988	7.722000	0.84778	2.651000	0.90000	0.650000	0.86243	GCC	SLC25A15	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000102743		0.547	SLC25A15-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A15	HGNC	protein_coding	OTTHUMT00000276149.2	-	0.00	75	0	C	NM_014252		41379274	+1	tier1	-	no_errors	ENST00000338625	ensembl	human	known	74_37	missense	26.42	39	14	SNP	1.000	G
SLC15A1	6564	genome.wustl.edu	37	13	99358508	99358508	+	Splice_Site	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr13:99358508C>G	ENST00000376503.5	-	16	1205		c.e16-1			NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1						digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GAAGAGTTTTCTGAGCAAAAT	0.398																																																	0													74.0	75.0	75.0					13																	99358508		2203	4300	6503	SO:0001630	splice_region_variant	0			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1150-1G>C	13.37:g.99358508C>G			Q5VW82	Splice_Site	SNP	-	e16-1	ENST00000376503.5	37	c.1150-1	CCDS9489.1	13	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580464	0.65992	.	.	ENSG00000088386	ENST00000376503	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5326	0.90997	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC15A1	98156509	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	6.036000	0.70948	2.732000	0.93576	0.650000	0.86243	.	SLC15A1	-	-	ENSG00000088386		0.398	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A1	HGNC	protein_coding	OTTHUMT00000045560.3		0.00	43	0	C	NM_005073	Intron	99358508	-1			no_errors	ENST00000376503	ensembl	human	known	74_37	splice_site	6.82	41	3	SNP	1.000	G
SLC25A6	293	genome.wustl.edu	37	X	1506281	1506281	+	Silent	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chrX:1506281G>A	ENST00000381401.5	-	3	1344	c.630C>T	c.(628-630)atC>atT	p.I210I	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	210					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		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)			Clodronate(DB00720)	AGCTCACCACGATGTGCGTGT	0.701																																																	0													111.0	94.0	100.0					X																	1506281		2203	4296	6499	SO:0001819	synonymous_variant	0			AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.630C>T	X.37:g.1506281G>A			Q96C49	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling	p.I210	ENST00000381401.5	37	c.630	CCDS14114.1	X																																																																																			SLC25A6	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom	ENSG00000169100		0.701	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A6	HGNC	protein_coding	OTTHUMT00000055596.1	-	0.00	58	0	G	NM_001636		1506281	-1	tier1	-	no_errors	ENST00000381401	ensembl	human	known	74_37	silent	28.77	52	21	SNP	0.965	A
SLC33A1	9197	genome.wustl.edu	37	3	155547652	155547652	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:155547652T>C	ENST00000392845.3	-	5	1687	c.1307A>G	c.(1306-1308)aAt>aGt	p.N436S	SLC33A1_ENST00000359479.3_Missense_Mutation_p.N436S			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	436					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACCTTTGCATTGAAAGCCAT	0.368																																																	0													98.0	85.0	90.0					3																	155547652		2203	4300	6503	SO:0001583	missense	0			D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.1307A>G	3.37:g.155547652T>C	ENSP00000376587:p.Asn436Ser		B2R5Q2|D3DNK4	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1	p.N436S	ENST00000392845.3	37	c.1307	CCDS3173.1	3	.	.	.	.	.	.	.	.	.	.	T	15.01	2.707576	0.48412	.	.	ENSG00000169359	ENST00000392845;ENST00000359479;ENST00000496772	T;T;T	0.25250	1.81;1.81;1.81	5.61	5.61	0.85477	Major facilitator superfamily domain, general substrate transporter (1);	0.042575	0.85682	D	0.000000	T	0.24967	0.0606	L	0.38838	1.175	0.51482	D	0.999928	B	0.21821	0.061	B	0.29440	0.102	T	0.03503	-1.1030	10	0.30854	T	0.27	-19.8431	15.8388	0.78824	0.0:0.0:0.0:1.0	.	436	O00400	ACATN_HUMAN	S	436;436;72	ENSP00000376587:N436S;ENSP00000352456:N436S;ENSP00000419165:N72S	ENSP00000352456:N436S	N	-	2	0	SLC33A1	157030346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.923000	0.87546	2.154000	0.67381	0.477000	0.44152	AAT	SLC33A1	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1	ENSG00000169359		0.368	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SLC33A1	HGNC	protein_coding	OTTHUMT00000351130.3	-	0.00	63	0	T	NM_004733		155547652	-1	tier1	-	no_errors	ENST00000359479	ensembl	human	known	74_37	missense	25.00	69	23	SNP	1.000	C
SLCO1A2	6579	genome.wustl.edu	37	12	21448561	21448561	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:21448561G>A	ENST00000307378.6	-	11	1961	c.1241C>T	c.(1240-1242)tCa>tTa	p.S414L	SLCO1A2_ENST00000537524.1_Missense_Mutation_p.S282L|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.S414L|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.S282L|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.S412L	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	414					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 membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	TCCAACAACTGAAGAATTTTC	0.308																																																	0													64.0	66.0	65.0					12																	21448561		2203	4296	6499	SO:0001583	missense	0				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1241C>T	12.37:g.21448561G>A	ENSP00000305974:p.Ser414Leu		Q9UGP7|Q9UL38	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S414L	ENST00000307378.6	37	c.1241	CCDS8686.1	12	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629704	0.28978	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.18	5.18	0.71444	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.828651	0.10941	N	0.617279	T	0.31796	0.0808	N	0.14661	0.345	0.23056	N	0.998362	B;B;B	0.17038	0.02;0.016;0.013	B;B;B	0.24848	0.011;0.01;0.056	T	0.20140	-1.0284	10	0.48119	T	0.1	.	13.9573	0.64157	0.0:0.0:0.8481:0.1518	.	394;412;414	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	L	414;414;282;282;412	ENSP00000305974:S414L;ENSP00000393973:S414L;ENSP00000394854:S282L;ENSP00000439401:S282L;ENSP00000375088:S412L	ENSP00000305974:S414L	S	-	2	0	SLCO1A2	21339828	0.969000	0.33509	0.988000	0.46212	0.640000	0.38277	2.246000	0.43142	2.560000	0.86352	0.563000	0.77884	TCA	SLCO1A2	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000084453		0.308	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1A2	HGNC	protein_coding	OTTHUMT00000343648.3	-	0.00	40	0	G	NM_021094		21448561	-1	tier1	-	no_errors	ENST00000307378	ensembl	human	known	74_37	missense	14.29	54	9	SNP	0.807	A
RPL17	6139	genome.wustl.edu	37	18	47017676	47017676	+	Intron	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr18:47017676C>T	ENST00000418495.1	-	3	422				RPL17_ENST00000580261.1_Intron|SNORD58B_ENST00000607313.1_RNA|RPL17_ENST00000581091.1_Intron|RPL17_ENST00000581373.1_Intron|RPL17-C18orf32_ENST00000332968.6_Intron|MIR1539_ENST00000581232.1_RNA|RPL17_ENST00000579408.1_Intron|RPL17-C18orf32_ENST00000584895.1_Intron|RPL17_ENST00000580210.1_Intron|SNORD58A_ENST00000383875.1_RNA|RPL17_ENST00000579248.1_Intron|SNORD58C_ENST00000365223.1_RNA	NM_000985.4|NM_001199340.1	NP_000976.1|NP_001186269.1	P18621	RL17_HUMAN	ribosomal protein L17						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|lung(3)	5						TATTAATTTTCACGGTAAATC	0.393																																																	0													331.0	323.0	326.0					18																	47017676		876	1991	2867	SO:0001627	intron_variant	0			AB007174	CCDS45865.1, CCDS56070.1	18q21	2011-04-06				ENSG00000265681		"""L ribosomal proteins"""	10307	protein-coding gene	gene with protein product		603661				2402465, 9582194	Standard	NM_000985		Approved	rpL23, L17		P18621		ENST00000418495.1:c.81+98G>A	18.37:g.47017676C>T			B2R4H3|B4E3C2|B5ME31|J3QL51|Q3KQW2|Q6NZ54|Q7M4M5	RNA	SNP	-	NULL	ENST00000418495.1	37	NULL	CCDS45865.1	18																																																																																			SNORD58A	-	-	ENSG00000206602		0.393	RPL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD58A	HGNC	protein_coding	OTTHUMT00000447589.2	-	0.00	50	0	C	NM_000985		47017676	-1	tier1	-	no_errors	ENST00000383875	ensembl	human	known	74_37	rna	10.00	45	5	SNP	1.000	T
SNTG1	54212	genome.wustl.edu	37	8	51569521	51569521	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr8:51569521G>T	ENST00000522124.1	+	14	1563	c.902G>T	c.(901-903)aGa>aTa	p.R301I	SNTG1_ENST00000517473.1_Missense_Mutation_p.R301I|SNTG1_ENST00000518864.1_Missense_Mutation_p.R301I|SNTG1_ENST00000276467.5_Missense_Mutation_p.R301I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	301	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CTCCAGGACAGAGTGTACTCC	0.473																																																	0													104.0	99.0	101.0					8																	51569521		2203	4300	6503	SO:0001583	missense	0			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.902G>T	8.37:g.51569521G>T	ENSP00000429842:p.Arg301Ile		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.R301I	ENST00000522124.1	37	c.902	CCDS6147.1	8	.	.	.	.	.	.	.	.	.	.	G	9.660	1.143831	0.21205	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.01	3.21	0.36854	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.195414	0.46442	D	0.000288	T	0.31231	0.0790	L	0.47716	1.5	0.25442	N	0.988083	P;P	0.41313	0.745;0.664	P;B	0.45971	0.499;0.168	T	0.13045	-1.0524	10	0.72032	D	0.01	-1.107	7.3618	0.26750	0.2014:0.0:0.7986:0.0	.	301;301	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	I	301	ENSP00000429276:R301I;ENSP00000429842:R301I;ENSP00000431123:R301I;ENSP00000276467:R301I	ENSP00000276467:R301I	R	+	2	0	SNTG1	51732074	0.714000	0.27936	0.001000	0.08648	0.015000	0.08874	4.155000	0.58131	0.514000	0.28300	0.591000	0.81541	AGA	SNTG1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000147481		0.473	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	HGNC	protein_coding	OTTHUMT00000377964.1	-	0.00	36	0	G			51569521	+1	tier1	-	no_errors	ENST00000518864	ensembl	human	known	74_37	missense	32.14	19	9	SNP	0.009	T
SPATA3	130560	genome.wustl.edu	37	2	231860992	231860992	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:231860992G>A	ENST00000452881.1	+	1	152	c.44G>A	c.(43-45)cGa>cAa	p.R15Q	SPATA3_ENST00000424440.1_Missense_Mutation_p.R15Q|AC105344.2_ENST00000414876.1_lincRNA|SPATA3_ENST00000455816.1_Missense_Mutation_p.R15Q|SPATA3_ENST00000433428.2_Missense_Mutation_p.R15Q			Q8NHX4	SPTA3_HUMAN	spermatogenesis associated 3	15										endometrium(2)|lung(1)	3						AGACGCCACCGAGACTCCACC	0.557																																																	0													183.0	204.0	198.0					2																	231860992		692	1591	2283	SO:0001583	missense	0			AY032925	CCDS2481.1	2q37.1	2008-02-05			ENSG00000173699	ENSG00000173699			17884	protein-coding gene	gene with protein product							Standard	NM_139073		Approved	TSARG1	uc010zmd.2	Q8NHX4	OTTHUMG00000133221	ENST00000452881.1:c.44G>A	2.37:g.231860992G>A	ENSP00000388895:p.Arg15Gln		Q86WX5|Q8N9Y6	Missense_Mutation	SNP	NULL	p.R15Q	ENST00000452881.1	37	c.44	CCDS2481.1	2	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281728	0.40394	.	.	ENSG00000173699	ENST00000424440;ENST00000452881;ENST00000433428;ENST00000455816;ENST00000355662	.	.	.	3.99	1.25	0.21368	.	0.670374	0.12163	N	0.493759	T	0.25791	0.0628	N	0.24115	0.695	0.09310	N	1	.	.	.	.	.	.	T	0.23048	-1.0199	7	0.52906	T	0.07	-5.8194	6.02	0.19625	0.3264:0.0:0.6736:0.0	.	.	.	.	Q	15	.	ENSP00000347884:R15Q	R	+	2	0	SPATA3	231569236	0.017000	0.18338	0.002000	0.10522	0.027000	0.11550	1.046000	0.30354	0.268000	0.21939	-0.126000	0.14955	CGA	SPATA3	-	NULL	ENSG00000173699		0.557	SPATA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SPATA3	HGNC	protein_coding	OTTHUMT00000256956.2	-	0.00	61	0	G	NM_139073		231860992	+1	tier1	-	no_errors	ENST00000424440	ensembl	human	known	74_37	missense	35.38	41	23	SNP	0.002	A
STAG1	10274	genome.wustl.edu	37	3	136141639	136141639	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:136141639C>G	ENST00000383202.2	-	18	2060	c.1804G>C	c.(1804-1806)Gaa>Caa	p.E602Q	STAG1_ENST00000536929.1_Missense_Mutation_p.E186Q|STAG1_ENST00000236698.5_Missense_Mutation_p.E602Q|STAG1_ENST00000434713.2_Missense_Mutation_p.E376Q	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	602					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CTGTAGATTTCTAAATCAAAA	0.308																																																	0													64.0	64.0	64.0					3																	136141639		2203	4298	6501	SO:0001583	missense	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1804G>C	3.37:g.136141639C>G	ENSP00000372689:p.Glu602Gln		O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.E602Q	ENST00000383202.2	37	c.1804	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959490	0.92791	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	5.66	5.66	0.87406	Armadillo-type fold (1);	0.155395	0.56097	D	0.000026	T	0.29524	0.0736	M	0.71036	2.16	0.80722	D	1	P;P;P	0.46020	0.764;0.871;0.764	P;P;P	0.49192	0.602;0.557;0.602	T	0.00800	-1.1561	10	0.52906	T	0.07	.	19.8002	0.96504	0.0:1.0:0.0:0.0	.	619;602;602	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	Q	602;602;376;186	ENSP00000372689:E602Q;ENSP00000236698:E602Q;ENSP00000404396:E376Q;ENSP00000445787:E186Q	ENSP00000236698:E602Q	E	-	1	0	STAG1	137624329	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.934000	0.70138	2.673000	0.90976	0.650000	0.86243	GAA	STAG1	-	superfamily_ARM-type_fold	ENSG00000118007		0.308	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	-	0.00	41	0	C	NM_005862		136141639	-1	tier1	-	no_errors	ENST00000383202	ensembl	human	known	74_37	missense	24.14	44	14	SNP	1.000	G
STARD13	90627	genome.wustl.edu	37	13	33760148	33760148	+	Intron	SNP	G	G	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr13:33760148G>T	ENST00000336934.5	-	2	286				STARD13_ENST00000255486.4_Silent_p.P4P|STARD13_ENST00000399365.3_Intron|STARD13_ENST00000487412.1_Intron	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GAACTGAGGAGGGTTCCAGCA	0.512																																																	0													78.0	77.0	78.0					13																	33760148		2203	4300	6503	SO:0001627	intron_variant	0			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.170-18389C>A	13.37:g.33760148G>T			A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.P4	ENST00000336934.5	37	c.12	CCDS9348.1	13																																																																																			STARD13	-	NULL	ENSG00000133121		0.512	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	HGNC	protein_coding	OTTHUMT00000276118.2	-	0.00	28	0	G	NM_001243466		33760148	-1	tier1	-	no_errors	ENST00000255486	ensembl	human	known	74_37	silent	46.67	16	14	SNP	0.000	T
STARD3	10948	genome.wustl.edu	37	17	37814733	37814733	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr17:37814733C>T	ENST00000336308.5	+	6	723	c.505C>T	c.(505-507)Ctt>Ttt	p.L169F	STARD3_ENST00000394250.4_Missense_Mutation_p.L151F|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000544210.2_Silent_p.S164S|STARD3_ENST00000580611.1_Missense_Mutation_p.L143F	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	169	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.				cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GACCTGGTTCCTTGACTTCAA	0.602																																																	0													101.0	80.0	87.0					17																	37814733		2203	4300	6503	SO:0001583	missense	0				CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"""StAR-related lipid transfer (START) domain containing"""	17579	protein-coding gene	gene with protein product		607048	"""START domain containing 3"""				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.505C>T	17.37:g.37814733C>T	ENSP00000337446:p.Leu169Phe		A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	pfam_MENTAL,pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,prints_StAR	p.L169F	ENST00000336308.5	37	c.505	CCDS11341.1	17	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778532	0.70107	.	.	ENSG00000131748	ENST00000336308;ENST00000394250;ENST00000443521	T;T;T	0.59772	0.24;0.24;0.24	5.26	4.28	0.50868	MENTAL domain (2);	0.000000	0.85682	D	0.000000	T	0.64136	0.2571	.	.	.	0.58432	D	0.999999	B;B	0.29481	0.245;0.154	B;B	0.43575	0.35;0.424	T	0.68454	-0.5404	9	0.72032	D	0.01	.	14.2291	0.65879	0.0:0.9266:0.0:0.0734	.	151;169	A8MXA4;Q14849	.;STAR3_HUMAN	F	169;151;169	ENSP00000337446:L169F;ENSP00000377794:L151F;ENSP00000411710:L169F	ENSP00000337446:L169F	L	+	1	0	STARD3	35068259	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.562000	0.67346	2.457000	0.83068	0.655000	0.94253	CTT	STARD3	-	pfam_MENTAL	ENSG00000131748		0.602	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD3	HGNC	protein_coding	OTTHUMT00000256933.1	-	0.00	68	0	C			37814733	+1	tier1	-	no_errors	ENST00000336308	ensembl	human	known	74_37	missense	58.33	30	42	SNP	1.000	T
STPG2	285555	genome.wustl.edu	37	4	99049692	99049692	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:99049692G>A	ENST00000295268.3	-	3	363	c.274C>T	c.(274-276)Cct>Tct	p.P92S		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	92																	CCACAAGAAGGAATTGAAGGA	0.358																																																	0													62.0	60.0	60.0					4																	99049692		2203	4298	6501	SO:0001583	missense	0			BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.274C>T	4.37:g.99049692G>A	ENSP00000295268:p.Pro92Ser			Missense_Mutation	SNP	NULL	p.P92S	ENST00000295268.3	37	c.274	CCDS3645.1	4	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484754	0.63962	.	.	ENSG00000163116	ENST00000295268	T	0.26373	1.74	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.41511	0.1162	L	0.32530	0.975	0.41053	D	0.985316	D	0.89917	1.0	D	0.97110	1.0	T	0.31971	-0.9924	10	0.87932	D	0	4.5602	16.0258	0.80545	0.0:0.0:1.0:0.0	.	92	Q8N412	CD037_HUMAN	S	92	ENSP00000295268:P92S	ENSP00000295268:P92S	P	-	1	0	C4orf37	99268715	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	3.750000	0.55157	2.496000	0.84212	0.655000	0.94253	CCT	STPG2	-	NULL	ENSG00000163116		0.358	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STPG2	HGNC	protein_coding	OTTHUMT00000253642.1		0.00	40	0	G	NM_174952		99049692	-1			no_errors	ENST00000295268	ensembl	human	known	74_37	missense	10.20	43	5	SNP	1.000	A
SWAP70	23075	genome.wustl.edu	37	11	9749710	9749710	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr11:9749710A>T	ENST00000318950.6	+	5	856	c.753A>T	c.(751-753)aaA>aaT	p.K251N	SWAP70_ENST00000447399.2_Missense_Mutation_p.K193N	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	251	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		AGGATAAGAAAGGAGACATTC	0.423																																																	0													198.0	192.0	194.0					11																	9749710		2201	4294	6495	SO:0001583	missense	0			AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.753A>T	11.37:g.9749710A>T	ENSP00000315630:p.Lys251Asn		D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_hand_dom,pfscan_Pleckstrin_homology	p.K251N	ENST00000318950.6	37	c.753	CCDS31426.1	11	.	.	.	.	.	.	.	.	.	.	A	22.2	4.258231	0.80246	.	.	ENSG00000133789	ENST00000447399;ENST00000318950;ENST00000534662	T;T;T	0.14893	2.47;2.47;2.47	5.97	5.97	0.96955	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.040669	0.85682	D	0.000000	T	0.36908	0.0984	M	0.79123	2.44	0.58432	D	0.999999	P;P;D	0.55605	0.88;0.856;0.972	P;P;P	0.61003	0.774;0.712;0.882	T	0.26018	-1.0115	10	0.87932	D	0	-19.8829	8.418	0.32683	0.8519:0.0:0.1481:0.0	.	193;251;193	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	N	193;251;102	ENSP00000399056:K193N;ENSP00000315630:K251N;ENSP00000435587:K102N	ENSP00000315630:K251N	K	+	3	2	SWAP70	9706286	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.353000	0.34045	2.289000	0.77006	0.459000	0.35465	AAA	SWAP70	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000133789		0.423	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWAP70	HGNC	protein_coding	OTTHUMT00000386766.2	-	0.00	18	0	A	NM_015055		9749710	+1	tier1	-	no_errors	ENST00000318950	ensembl	human	known	74_37	missense	23.53	26	8	SNP	1.000	T
TAGAP	117289	genome.wustl.edu	37	6	159461856	159461856	+	Silent	SNP	G	G	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:159461856G>T	ENST00000367066.3	-	7	817	c.486C>A	c.(484-486)ctC>ctA	p.L162L	RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000338313.5_Silent_p.L162L|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_5'UTR|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	162	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGATACTTCTGAGGAAGTCCT	0.542																																																	0													72.0	68.0	69.0					6																	159461856		2203	4300	6503	SO:0001819	synonymous_variant	0			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.486C>A	6.37:g.159461856G>T			Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L162	ENST00000367066.3	37	c.486	CCDS5261.1	6																																																																																			TAGAP	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000164691		0.542	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAGAP	HGNC	protein_coding	OTTHUMT00000042890.1	-	0.00	70	0	G	NM_054114		159461856	-1	tier1	-	no_errors	ENST00000367066	ensembl	human	known	74_37	silent	6.45	58	4	SNP	1.000	T
TANGO6	79613	genome.wustl.edu	37	16	68901087	68901087	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:68901087C>G	ENST00000261778.1	+	4	970	c.958C>G	c.(958-960)Cag>Gag	p.Q320E		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	320						integral component of membrane (GO:0016021)											TAATGGTGTTCAGGCAGTAGT	0.488																																																	0													176.0	173.0	174.0					16																	68901087		1925	4121	6046	SO:0001583	missense	0				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.958C>G	16.37:g.68901087C>G	ENSP00000261778:p.Gln320Glu		Q569F9|Q9H9K1	Missense_Mutation	SNP	pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold	p.Q320E	ENST00000261778.1	37	c.958	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812166	0.90707	.	.	ENSG00000103047	ENST00000261778	T	0.69435	-0.4	5.83	5.83	0.93111	.	.	.	.	.	T	0.81555	0.4847	M	0.79123	2.44	0.54753	D	0.999982	D;D	0.64830	0.994;0.994	D;D	0.70716	0.97;0.97	T	0.77178	-0.2683	9	0.23302	T	0.38	-6.9744	18.8787	0.92349	0.0:1.0:0.0:0.0	.	320;159	Q9C0B7;B3KTB6	TMCO7_HUMAN;.	E	320	ENSP00000261778:Q320E	ENSP00000261778:Q320E	Q	+	1	0	TMCO7	67458588	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.454000	0.73493	2.755000	0.94549	0.650000	0.86243	CAG	TANGO6	-	NULL	ENSG00000103047		0.488	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANGO6	HGNC	protein_coding	OTTHUMT00000433471.2		0.00	59	0	C	XM_928235.2		68901087	+1			no_errors	ENST00000261778	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	G
TARS	6897	genome.wustl.edu	37	5	33457431	33457431	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr5:33457431C>A	ENST00000265112.3	+	9	1218	c.907C>A	c.(907-909)Cca>Aca	p.P303T	TARS_ENST00000541634.1_Missense_Mutation_p.P199T|TARS_ENST00000414361.2_Missense_Mutation_p.P182T|TARS_ENST00000502553.1_Missense_Mutation_p.P303T|TARS_ENST00000455217.2_Missense_Mutation_p.P336T	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	303					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CATTTCATTCCCAGATCCTAA	0.403																																																	0													112.0	116.0	115.0					5																	33457431		2203	4300	6503	SO:0001583	missense	0			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.907C>A	5.37:g.33457431C>A	ENSP00000265112:p.Pro303Thr		A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa	p.P303T	ENST00000265112.3	37	c.907	CCDS3899.1	5	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957782	0.92726	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T	0.50277	0.75;0.75;0.75	5.7	5.7	0.88788	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	M	0.93720	3.45	0.80722	D	1	D;D;D;D	0.76494	0.996;0.999;0.998;0.996	D;D;D;D	0.70487	0.931;0.959;0.969;0.931	D	0.83394	0.0019	10	0.87932	D	0	4.4309	19.8794	0.96891	0.0:1.0:0.0:0.0	.	182;336;199;303	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	T	303;303;199;336;182	ENSP00000424387:P303T;ENSP00000265112:P303T;ENSP00000387710:P336T	ENSP00000265112:P303T	P	+	1	0	TARS	33493188	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.807000	0.86032	2.703000	0.92315	0.650000	0.86243	CCA	TARS	-	superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-ligase_IIa	ENSG00000113407		0.403	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	HGNC	protein_coding	OTTHUMT00000207367.1	-	0.00	57	0	C	NM_152295		33457431	+1	tier1	-	no_errors	ENST00000265112	ensembl	human	known	74_37	missense	56.25	14	18	SNP	1.000	A
TBC1D15	64786	genome.wustl.edu	37	12	72312261	72312261	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:72312261G>T	ENST00000550746.1	+	15	1647	c.1583G>T	c.(1582-1584)tGc>tTc	p.C528F	TBC1D15_ENST00000485960.2_Missense_Mutation_p.C511F|TBC1D15_ENST00000393309.3_Missense_Mutation_p.C282F|TBC1D15_ENST00000548679.1_3'UTR|TBC1D15_ENST00000319106.8_Missense_Mutation_p.C519F	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	528	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTTATTTTTGCTTCAGGTGG	0.313																																																	0													177.0	187.0	184.0					12																	72312261		2202	4300	6502	SO:0001583	missense	0			AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1583G>T	12.37:g.72312261G>T	ENSP00000448182:p.Cys528Phe		B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.C528F	ENST00000550746.1	37	c.1583	CCDS31858.1	12	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598692	0.87055	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.54	5.54	0.83059	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.996	T	0.45381	-0.9265	10	0.33940	T	0.23	-7.0632	19.4948	0.95067	0.0:0.0:1.0:0.0	.	519;511;528	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	F	528;519;511;282	ENSP00000448182:C528F;ENSP00000318262:C519F;ENSP00000420678:C511F;ENSP00000376986:C282F	ENSP00000318262:C519F	C	+	2	0	TBC1D15	70598528	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.706000	0.98722	2.615000	0.88500	0.655000	0.94253	TGC	TBC1D15	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000121749		0.313	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	TBC1D15	HGNC	protein_coding	OTTHUMT00000351266.2	-	0.00	75	0	G	NM_022771		72312261	+1	tier1	-	no_errors	ENST00000550746	ensembl	human	known	74_37	missense	45.95	60	51	SNP	1.000	T
TET2	54790	genome.wustl.edu	37	4	106157097	106157097	+	Silent	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:106157097C>T	ENST00000540549.1	+	3	2858	c.1998C>T	c.(1996-1998)gaC>gaT	p.D666D	TET2_ENST00000394764.1_Silent_p.D666D|TET2_ENST00000513237.1_Silent_p.D687D|TET2_ENST00000545826.1_Silent_p.D666D|TET2_ENST00000305737.2_Silent_p.D666D|TET2_ENST00000380013.4_Silent_p.D666D|TET2_ENST00000413648.2_Silent_p.D666D			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	666	Gln-rich.		D -> G (in a chronic myelomonocytic leukemia sample; somatic mutation). {ECO:0000269|PubMed:19420352}.		5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.(H667_H668)fs*(13_14)(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CCAAAACAGACCATTTACCAA	0.438			"""Mis N, F"""		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)											109.0	106.0	107.0					4																	106157097		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1998C>T	4.37:g.106157097C>T			B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	NULL	p.D666	ENST00000540549.1	37	c.1998	CCDS47120.1	4																																																																																			TET2	-	NULL	ENSG00000168769		0.438	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2		0.00	44	0	C	NM_017628		106157097	+1			no_errors	ENST00000380013	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.001	T
TFDP2	7029	genome.wustl.edu	37	3	141811953	141811953	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:141811953G>A	ENST00000489671.1	-	3	462	c.32C>T	c.(31-33)aCa>aTa	p.T11I	TFDP2_ENST00000499676.2_5'UTR|TFDP2_ENST00000464782.1_Intron|TFDP2_ENST00000467072.1_5'UTR|TFDP2_ENST00000317104.7_5'UTR			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	11					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			kidney(1)|upper_aerodigestive_tract(2)	3						TTCTGCATTTGTGGAAGTCAA	0.279																																																	0													6.0	7.0	7.0					3																	141811953		857	1965	2822	SO:0001583	missense	0			U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.32C>T	3.37:g.141811953G>A	ENSP00000420616:p.Thr11Ile		B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Missense_Mutation	SNP	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP	p.T11I	ENST00000489671.1	37	c.32	CCDS54650.1	3	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030938	0.35797	.	.	ENSG00000114126	ENST00000489671;ENST00000467634	T;T	0.35789	1.85;1.29	5.44	4.54	0.55810	.	0.268685	0.25900	N	0.027563	T	0.28466	0.0704	N	0.25647	0.755	0.80722	D	1	P	0.35982	0.531	B	0.38156	0.266	T	0.09058	-1.0692	10	0.56958	D	0.05	.	11.3247	0.49442	0.0:0.0:0.8179:0.1821	.	11	Q14188	TFDP2_HUMAN	I	11	ENSP00000420616:T11I;ENSP00000419540:T11I	ENSP00000419540:T11I	T	-	2	0	TFDP2	143294643	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.832000	0.48152	1.249000	0.43950	0.585000	0.79938	ACA	TFDP2	-	pirsf_Transcrpt_fac_DP	ENSG00000114126		0.279	TFDP2-001	KNOWN	basic|CCDS	protein_coding	TFDP2	HGNC	protein_coding	OTTHUMT00000353294.4	-	0.00	50	0	G	NM_006286		141811953	-1	tier1	-	no_errors	ENST00000489671	ensembl	human	known	74_37	missense	8.11	68	6	SNP	1.000	A
TKTL2	84076	genome.wustl.edu	37	4	164394764	164394764	+	Silent	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:164394764C>T	ENST00000280605.3	-	1	283	c.123G>A	c.(121-123)tcG>tcA	p.S41S		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	41						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CACTGCAGCACGACGTGAGCT	0.597																																																	0													88.0	63.0	72.0					4																	164394764		2203	4300	6503	SO:0001819	synonymous_variant	0			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.123G>A	4.37:g.164394764C>T			A4FVB4|Q8NCT0|Q96M82	Silent	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.S41	ENST00000280605.3	37	c.123	CCDS3805.1	4																																																																																			TKTL2	-	pfam_Transketolase_N	ENSG00000151005		0.597	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL2	HGNC	protein_coding	OTTHUMT00000365207.1	-	0.00	40	0	C	NM_032136		164394764	-1	tier1	-	no_errors	ENST00000280605	ensembl	human	known	74_37	silent	46.34	22	19	SNP	0.992	T
TMEM41B	440026	genome.wustl.edu	37	11	9304976	9304976	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr11:9304976C>G	ENST00000528080.1	-	7	1209	c.871G>C	c.(871-873)Gag>Cag	p.E291Q		NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	291					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)		p.E291Q(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TATTTTTACTCAAATTTCTGC	0.333																																																	1	Substitution - Missense(1)	urinary_tract(1)											46.0	48.0	47.0					11																	9304976		2201	4296	6497	SO:0001583	missense	0			D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.871G>C	11.37:g.9304976C>G	ENSP00000433126:p.Glu291Gln		D3DQU9|E9PP29|Q15055|Q4G0P0	Missense_Mutation	SNP	pfam_SNARE_assoc	p.E291Q	ENST00000528080.1	37	c.871	CCDS31424.1	11	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254425	0.59212	.	.	ENSG00000166471	ENST00000299596;ENST00000528080	.	.	.	5.96	5.02	0.67125	.	0.049615	0.85682	D	0.000000	T	0.47673	0.1458	L	0.29908	0.895	0.80722	D	1	B	0.26876	0.162	B	0.28465	0.09	T	0.41215	-0.9521	9	0.39692	T	0.17	-0.0034	15.6088	0.76696	0.0:0.8639:0.1361:0.0	.	291	Q5BJD5	TM41B_HUMAN	Q	291	.	ENSP00000299596:E291Q	E	-	1	0	TMEM41B	9261552	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.783000	0.62403	2.832000	0.97577	0.655000	0.94253	GAG	TMEM41B	-	NULL	ENSG00000166471		0.333	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM41B	HGNC	protein_coding	OTTHUMT00000385940.2	-	0.00	65	0	C			9304976	-1	tier1	-	no_errors	ENST00000299596	ensembl	human	known	74_37	missense	6.58	71	5	SNP	1.000	G
TNN	63923	genome.wustl.edu	37	1	175096214	175096214	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:175096214C>T	ENST00000239462.4	+	13	3151	c.3038C>T	c.(3037-3039)aCa>aTa	p.T1013I		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1013	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCAGATGGCACAGTTAAGGTA	0.532																																																	0													184.0	171.0	175.0					1																	175096214		2203	4300	6503	SO:0001583	missense	0			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3038C>T	1.37:g.175096214C>T	ENSP00000239462:p.Thr1013Ile		B9EGP3|Q5R360	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.T1013I	ENST00000239462.4	37	c.3038	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	C	5.616	0.298304	0.10622	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.57907	0.37	5.14	4.22	0.49857	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.628567	0.17598	N	0.168501	T	0.51787	0.1695	M	0.61703	1.905	0.20638	N	0.999875	B	0.21520	0.057	B	0.27715	0.082	T	0.49753	-0.8906	10	0.51188	T	0.08	.	11.9798	0.53113	0.0:0.9168:0.0:0.0832	.	1013	Q9UQP3	TENN_HUMAN	I	1013;836	ENSP00000239462:T1013I	ENSP00000239462:T1013I	T	+	2	0	TNN	173362837	0.004000	0.15560	0.105000	0.21289	0.019000	0.09904	0.037000	0.13840	1.130000	0.42092	0.563000	0.77884	ACA	TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120332		0.532	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	-	0.00	87	0	C	XM_040527		175096214	+1	tier1	-	no_errors	ENST00000239462	ensembl	human	known	74_37	missense	6.48	101	7	SNP	0.330	T
TP53	7157	genome.wustl.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAGCGCTCATGGTGGGGGCA	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)											47.0	47.0	47.0					17																	7578394		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.H179R	ENST00000269305.4	37	c.536	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	454	0	T	NM_000546		7578394	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	73.90	107	303	SNP	1.000	C
TSACC	128229	genome.wustl.edu	37	1	156314405	156314405	+	Silent	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:156314405C>T	ENST00000368255.3	+	3	429	c.69C>T	c.(67-69)ctC>ctT	p.L23L	TSACC_ENST00000368254.1_Silent_p.L23L|TSACC_ENST00000368252.1_Silent_p.L23L|TSACC_ENST00000368253.2_Silent_p.L23L|TSACC_ENST00000368251.1_Silent_p.L23L|TSACC_ENST00000470342.1_Silent_p.L23L|TSACC_ENST00000481479.1_Silent_p.L23L|TSACC_ENST00000466306.1_Silent_p.L23L	NM_144627.3	NP_653228.1	Q96A04	TSACC_HUMAN	TSSK6 activating co-chaperone	23						cytoplasm (GO:0005737)	chaperone binding (GO:0051087)										CTGTGCCTCTCTGTAGAGCAA	0.463																																																	0													103.0	103.0	103.0					1																	156314405		2203	4300	6503	SO:0001819	synonymous_variant	0			AY048672	CCDS1141.1	1q22	2012-08-16	2012-08-16	2012-08-16	ENSG00000163467	ENSG00000163467			30636	protein-coding gene	gene with protein product	"""SSTK-interacting protein"""		"""chromosome 1 open reading frame 182"""	C1orf182		20829357	Standard	NM_144627		Approved	SSTK-IP, SIP	uc001foo.3	Q96A04	OTTHUMG00000024060	ENST00000368255.3:c.69C>T	1.37:g.156314405C>T			D3DVB9	Silent	SNP	NULL	p.L23	ENST00000368255.3	37	c.69	CCDS1141.1	1																																																																																			TSACC	-	NULL	ENSG00000163467		0.463	TSACC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSACC	HGNC	protein_coding	OTTHUMT00000060594.1	-	0.00	46	0	C	NM_144627		156314405	+1	tier1	-	no_errors	ENST00000368251	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.997	T
TTN	7273	genome.wustl.edu	37	2	179595754	179595754	+	Silent	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:179595754G>A	ENST00000591111.1	-	58	16911	c.16687C>T	c.(16687-16689)Ctg>Ttg	p.L5563L	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Silent_p.L4636L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.L5880L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12380	Ig-like 36.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			ATAATCTTCAGTATTGAGACT	0.383																																																	0													141.0	135.0	137.0					2																	179595754		1844	4094	5938	SO:0001819	synonymous_variant	0			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.16687C>T	2.37:g.179595754G>A			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	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L4636	ENST00000591111.1	37	c.13906		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	71	0	G	NM_133378		179595754	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	35.82	42	24	SNP	0.793	A
TXNRD2	10587	genome.wustl.edu	37	22	19885562	19885562	+	Splice_Site	SNP	C	C	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr22:19885562C>A	ENST00000400521.1	-	10	780	c.774G>T	c.(772-774)caG>caT	p.Q258H	TXNRD2_ENST00000400518.1_Splice_Site_p.Q228H|TXNRD2_ENST00000400519.1_Splice_Site_p.Q257H|TXNRD2_ENST00000334363.9_Splice_Site_p.Q258H|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000542719.1_Splice_Site_p.Q228H|TXNRD2_ENST00000535882.1_Splice_Site_p.Q257H	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	258					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CCAGCACTACCTGGTCGAAGC	0.662																																																	0													17.0	21.0	20.0					22																	19885562		2040	4133	6173	SO:0001630	splice_region_variant	0			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.774+1G>T	22.37:g.19885562C>A			O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase	p.Q257H	ENST00000400521.1	37	c.771	CCDS42981.1	22	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056246	0.76074	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719;ENST00000334363	T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39	4.36	4.36	0.52297	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.75020	0.972;0.985;0.972;0.972	T	0.74538	-0.3632	9	.	.	.	1.5582	17.2922	0.87160	0.0:1.0:0.0:0.0	.	258;258;226;257	Q9NNW7;E7EWK1;Q6M1B7;D3YTF9	TRXR2_HUMAN;.;.;.	H	228;258;258;235;162;257;257;228;258	ENSP00000383362:Q228H;ENSP00000383365:Q258H;ENSP00000383369:Q235H;ENSP00000383363:Q257H;ENSP00000439314:Q257H;ENSP00000439570:Q228H;ENSP00000334451:Q258H	.	Q	-	3	2	TXNRD2	18265562	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	5.398000	0.66308	2.170000	0.68504	0.561000	0.74099	CAG	TXNRD2	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,tigrfam_Thioredoxin/glutathione_Rdtase	ENSG00000184470		0.662	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD2	HGNC	protein_coding	OTTHUMT00000314903.3	-	0.00	25	0	C	NM_006440	Missense_Mutation	19885562	-1	tier1	-	no_errors	ENST00000535882	ensembl	human	known	74_37	missense	26.32	14	5	SNP	1.000	A
UBAP2L	9898	genome.wustl.edu	37	1	154242091	154242091	+	Intron	SNP	G	G	C			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:154242091G>C	ENST00000361546.2	+	26	3210				UBAP2L_ENST00000428931.1_Intron|HAX1_ENST00000457918.2_5'Flank|HAX1_ENST00000483970.2_5'Flank|UBAP2L_ENST00000484819.1_3'UTR|HAX1_ENST00000328703.7_5'Flank|UBAP2L_ENST00000271877.7_Intron			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like						binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCCTTCCCCAGCTGTGGAAAA	0.537																																																	0																																										SO:0001627	intron_variant	0			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.3169-585G>C	1.37:g.154242091G>C			B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	RNA	SNP	-	NULL	ENST00000361546.2	37	NULL	CCDS1063.1	1																																																																																			UBAP2L	-	-	ENSG00000143569		0.537	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	-	0.00	14	0	G	NM_014847		154242091	+1	tier1	-	no_errors	ENST00000484819	ensembl	human	known	74_37	rna	80.00	2	8	SNP	0.202	C
UBR2	23304	genome.wustl.edu	37	6	42582821	42582821	+	Missense_Mutation	SNP	G	G	T	rs146847025		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:42582821G>T	ENST00000372899.1	+	9	1256	c.998G>T	c.(997-999)cGg>cTg	p.R333L	UBR2_ENST00000372883.3_5'Flank|UBR2_ENST00000372901.1_Missense_Mutation_p.R333L|UBR2_ENST00000372903.2_Missense_Mutation_p.R333L	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	333					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GGCCTTCGCCGGATTTTATGT	0.363																																																	0													123.0	124.0	124.0					6																	42582821		2203	4300	6503	SO:0001583	missense	0			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.998G>T	6.37:g.42582821G>T	ENSP00000361990:p.Arg333Leu		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.R333L	ENST00000372899.1	37	c.998	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839773	0.91117	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	T;T;T	0.73152	-0.72;0.29;0.3	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.50837	0.1639	L	0.28608	0.87	0.80722	D	1	B;B	0.19445	0.021;0.036	B;B	0.25291	0.026;0.059	T	0.46176	-0.9210	10	0.25751	T	0.34	-14.1051	20.0804	0.97772	0.0:0.0:1.0:0.0	.	333;333	Q8IWV8;Q8IWV8-2	UBR2_HUMAN;.	L	333	ENSP00000361994:R333L;ENSP00000361990:R333L;ENSP00000361992:R333L	ENSP00000361990:R333L	R	+	2	0	UBR2	42690799	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.357000	0.97099	2.738000	0.93877	0.655000	0.94253	CGG	UBR2	-	NULL	ENSG00000024048		0.363	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2		0.00	36	0	G	NM_015255		42582821	+1			no_errors	ENST00000372899	ensembl	human	known	74_37	missense	11.11	16	2	SNP	1.000	T
UPK1B	7348	genome.wustl.edu	37	3	118913174	118913174	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:118913174A>G	ENST00000264234.3	+	6	726	c.577A>G	c.(577-579)Atg>Gtg	p.M193V	UPK1B_ENST00000460625.1_Missense_Mutation_p.M185V|UPK1B_ENST00000497685.1_Missense_Mutation_p.M113V	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	193					epithelial cell differentiation (GO:0030855)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		ATGCTGTGTTATGAACAATCT	0.473																																																	0													157.0	142.0	147.0					3																	118913174		2203	4300	6503	SO:0001583	missense	0			AF082888	CCDS2985.1	3q13.32	2013-02-14			ENSG00000114638	ENSG00000114638		"""Tetraspanins"""	12578	protein-coding gene	gene with protein product		602380		UPK1		9935153, 9846985	Standard	NM_006952		Approved	TSPAN20	uc003ecc.3	O75841	OTTHUMG00000159354	ENST00000264234.3:c.577A>G	3.37:g.118913174A>G	ENSP00000264234:p.Met193Val		O60753|Q9UIM2|Q9UNX6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.M193V	ENST00000264234.3	37	c.577	CCDS2985.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.505780	0.44558	.	.	ENSG00000114638	ENST00000497685;ENST00000264234;ENST00000460625	D;D;D	0.86562	-2.14;-2.14;-2.14	5.92	4.7	0.59300	Tetraspanin, EC2 domain (1);	0.055950	0.64402	D	0.000001	T	0.82024	0.4947	L	0.44542	1.39	0.38321	D	0.943534	B;B	0.16802	0.019;0.017	B;B	0.22152	0.014;0.038	T	0.78971	-0.1993	10	0.32370	T	0.25	-7.4106	11.856	0.52437	0.8541:0.1459:0.0:0.0	.	185;193	C9J9M7;O75841	.;UPK1B_HUMAN	V	113;193;185	ENSP00000418972:M113V;ENSP00000264234:M193V;ENSP00000418116:M185V	ENSP00000264234:M193V	M	+	1	0	UPK1B	120395864	0.015000	0.18098	0.995000	0.50966	0.980000	0.70556	0.125000	0.15749	2.267000	0.75376	0.383000	0.25322	ATG	UPK1B	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000114638		0.473	UPK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPK1B	HGNC	protein_coding	OTTHUMT00000354883.2	-	0.00	70	0	A			118913174	+1	tier1	-	no_errors	ENST00000264234	ensembl	human	known	74_37	missense	24.66	54	18	SNP	0.988	G
VWF	7450	genome.wustl.edu	37	12	6128641	6128641	+	Missense_Mutation	SNP	G	G	A	rs61749395		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:6128641G>A	ENST00000261405.5	-	28	4197	c.3943C>T	c.(3943-3945)Cgc>Tgc	p.R1315C		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1315	VWFA 1; binding site for platelet glycoprotein Ib. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACGGCCACGCGGACCCACTTC	0.637																																																	0			GRCh37	CM941402	VWF	M	rs61749395						60.0	60.0	60.0					12																	6128641		2203	4300	6503	SO:0001583	missense	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.3943C>T	12.37:g.6128641G>A	ENSP00000261405:p.Arg1315Cys		Q8TCE8|Q99806	Missense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.R1315C	ENST00000261405.5	37	c.3943	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	.	18.86	3.712429	0.68730	.	.	ENSG00000110799	ENST00000261405	D	0.87029	-2.2	4.98	4.05	0.47172	von Willebrand factor, type A (3);	0.000000	0.40818	N	0.001008	D	0.95604	0.8571	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96498	0.9369	10	0.87932	D	0	.	13.9462	0.64086	0.0:0.0:0.8482:0.1518	rs61749395	1315	P04275	VWF_HUMAN	C	1315	ENSP00000261405:R1315C	ENSP00000261405:R1315C	R	-	1	0	VWF	5998902	1.000000	0.71417	0.992000	0.48379	0.736000	0.42039	5.316000	0.65815	2.605000	0.88082	0.555000	0.69702	CGC	VWF	-	pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000110799		0.637	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	-	0.00	97	0	G	NM_000552		6128641	-1	tier1	rs61749395	no_errors	ENST00000261405	ensembl	human	known	74_37	missense	8.70	682	65	SNP	1.000	A
WASH3P	374666	genome.wustl.edu	37	15	102506929	102506930	+	RNA	INS	-	-	TATAG			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr15:102506929_102506930insTATAG	ENST00000557932.1	+	0	172							C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						ACTAATATTCATATAAACCGTG	0.366																																																	0																																												0					15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102506929_102506930insTATAG				RNA	INS	-	NULL	ENST00000557932.1	37	NULL		15																																																																																			WASH3P	-	-	ENSG00000185596		0.366	WASH3P-001	KNOWN	basic	processed_transcript	WASH3P	HGNC	pseudogene	OTTHUMT00000417608.1		0.00	11	0	0	NM_199163		102506930	+1			no_errors	ENST00000559884	ensembl	human	known	74_37	rna	50.00	3	3	INS	0.000:0.000	TATAG
CFAP44	55779	genome.wustl.edu	37	3	113145025	113145025	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:113145025G>T	ENST00000295868.2	-	4	515	c.353C>A	c.(352-354)tCg>tAg	p.S118*	WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000393845.2_Nonsense_Mutation_p.S118*|WDR52-AS1_ENST00000473329.1_RNA	NM_018338.3	NP_060808.2												p.S118L(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AAAAGGCATCGAAGCAAGCTC	0.413																																																	1	Substitution - Missense(1)	lung(1)											226.0	230.0	229.0					3																	113145025		2203	4300	6503	SO:0001587	stop_gained	0																														ENST00000295868.2:c.353C>A	3.37:g.113145025G>T	ENSP00000295868:p.Ser118*			Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S118*	ENST00000295868.2	37	c.353	CCDS2972.1	3	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808666	0.70797	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	.	.	.	6.16	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6862	0.62517	0.0716:0.0:0.9284:0.0	.	.	.	.	X	118	.	ENSP00000295868:S118X	S	-	2	0	WDR52	114627715	1.000000	0.71417	0.042000	0.18584	0.580000	0.36256	5.498000	0.66931	1.623000	0.50342	0.650000	0.86243	TCG	WDR52	-	NULL	ENSG00000206530		0.413	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR52	HGNC	protein_coding	OTTHUMT00000354128.3	-	0.00	38	0	G			113145025	-1	tier1	-	no_errors	ENST00000393845	ensembl	human	known	74_37	nonsense	5.97	63	4	SNP	0.871	T
WDR89	112840	genome.wustl.edu	37	14	64066414	64066414	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr14:64066414C>T	ENST00000394942.2	-	2	335	c.247G>A	c.(247-249)Gac>Aac	p.D83N	CTD-2302E22.2_ENST00000553983.1_lincRNA|WDR89_ENST00000267522.3_Missense_Mutation_p.D83N	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	83										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		TATACACTGTCACAGGAATTT	0.398																																																	0													54.0	54.0	54.0					14																	64066414		2203	4300	6503	SO:0001583	missense	0			AF115513	CCDS9759.1	14q23.2	2013-01-09		2006-07-07	ENSG00000140006	ENSG00000140006		"""WD repeat domain containing"""	20489	protein-coding gene	gene with protein product				C14orf150			Standard	NM_080666		Approved	MGC9907	uc001xgi.4	Q96FK6	OTTHUMG00000140340	ENST00000394942.2:c.247G>A	14.37:g.64066414C>T	ENSP00000378399:p.Asp83Asn			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D83N	ENST00000394942.2	37	c.247	CCDS9759.1	14	.	.	.	.	.	.	.	.	.	.	C	6.591	0.477481	0.12521	.	.	ENSG00000140006	ENST00000394942;ENST00000267522;ENST00000554717	T;T;T	0.58652	0.32;0.32;0.32	5.63	3.69	0.42338	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.518609	0.22128	N	0.064234	T	0.38983	0.1061	L	0.31371	0.925	0.09310	N	0.999997	B	0.14012	0.009	B	0.17433	0.018	T	0.15549	-1.0433	10	0.13853	T	0.58	.	6.9535	0.24558	0.0:0.6628:0.1292:0.2079	.	83	Q96FK6	WDR89_HUMAN	N	83	ENSP00000378399:D83N;ENSP00000267522:D83N;ENSP00000451702:D83N	ENSP00000267522:D83N	D	-	1	0	WDR89	63136167	0.166000	0.22962	0.967000	0.41034	0.899000	0.52679	0.821000	0.27338	1.504000	0.48704	0.655000	0.94253	GAC	WDR89	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000140006		0.398	WDR89-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	WDR89	HGNC	protein_coding	OTTHUMT00000411879.2	-	0.00	32	0	C	NM_080666		64066414	-1	tier1	-	no_errors	ENST00000267522	ensembl	human	known	74_37	missense	42.31	15	11	SNP	0.181	T
YAP1	10413	genome.wustl.edu	37	11	102098302	102098302	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr11:102098302G>C	ENST00000282441.5	+	8	1654	c.1266G>C	c.(1264-1266)gaG>gaC	p.E422D	YAP1_ENST00000531439.1_Missense_Mutation_p.E406D|YAP1_ENST00000345877.2_Missense_Mutation_p.E372D|YAP1_ENST00000526343.1_Missense_Mutation_p.E368D|RP11-864G5.3_ENST00000526310.1_RNA|YAP1_ENST00000524575.1_Missense_Mutation_p.E244D|YAP1_ENST00000537274.1_Missense_Mutation_p.E410D|YAP1_ENST00000528834.1_3'UTR	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	422	Transactivation domain.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GTGTGGATGAGATGGATACAG	0.438																																					Colon(50;247 1103 7861 28956)												0													188.0	136.0	154.0					11																	102098302		2203	4299	6502	SO:0001583	missense	0				CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"""Yes-associated protein 1, 65kDa"""			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.1266G>C	11.37:g.102098302G>C	ENSP00000282441:p.Glu422Asp		B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.E422D	ENST00000282441.5	37	c.1266	CCDS44716.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.82|15.82	2.944741|2.944741	0.53079|0.53079	.|.	.|.	ENSG00000137693|ENSG00000137693	ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439;ENST00000524575|ENST00000529029	T;T;T|.	0.49432|.	0.83;0.78;0.85|.	5.31|5.31	-5.66|-5.66	0.02451|0.02451	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50154|0.50154	0.1599|0.1599	L|L	0.34521|0.34521	1.04|1.04	0.47407|0.47407	D|D	0.999416|0.999416	P;D;D;D;D;D|.	0.76494|.	0.956;0.999;0.994;0.999;0.995;0.996|.	D;D;D;D;D;D|.	0.80764|.	0.931;0.994;0.97;0.98;0.978;0.987|.	T|T	0.48843|0.48843	-0.8999|-0.8999	10|5	0.22109|.	T|.	0.4|.	.|.	15.7145|15.7145	0.77658|0.77658	0.4026:0.0:0.5974:0.0|0.4026:0.0:0.5974:0.0	.|.	244;339;368;406;422;372|.	B4DTY1;F5GWC5;E9PRV2;P46937-2;P46937;P46937-3|.	.;.;.;.;YAP1_HUMAN;.|.	D|T	368;422;410;372;339;406;244|176	ENSP00000434134:E368D;ENSP00000331023:E372D;ENSP00000435602:E244D|.	ENSP00000282441:E422D|.	E|R	+|+	3|2	2|0	YAP1|YAP1	101603512|101603512	0.996000|0.996000	0.38824|0.38824	0.834000|0.834000	0.33040|0.33040	0.582000|0.582000	0.36321|0.36321	0.435000|0.435000	0.21510|0.21510	-1.514000|-1.514000	0.01786|0.01786	-0.157000|-0.157000	0.13467|0.13467	GAG|AGA	YAP1	-	NULL	ENSG00000137693		0.438	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YAP1	HGNC	protein_coding	OTTHUMT00000394151.1	-	0.00	83	0	G	NM_006106		102098302	+1	tier1	-	no_errors	ENST00000282441	ensembl	human	known	74_37	missense	41.27	37	26	SNP	0.965	C
YLPM1	56252	genome.wustl.edu	37	14	75245163	75245163	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr14:75245163A>G	ENST00000552421.1	+	2	1011	c.887A>G	c.(886-888)tAt>tGt	p.Y296C	YLPM1_ENST00000325680.7_Missense_Mutation_p.Y296C|YLPM1_ENST00000238571.3_Missense_Mutation_p.Y296C			P49750	YLPM1_HUMAN	YLP motif containing 1	296					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CAGCAGCAGTATTGGTATCGA	0.418																																																	0													64.0	61.0	62.0					14																	75245163		1909	4112	6021	SO:0001583	missense	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.887A>G	14.37:g.75245163A>G	ENSP00000447921:p.Tyr296Cys		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.Y296C	ENST00000552421.1	37	c.887		14	.	.	.	.	.	.	.	.	.	.	A	12.78	2.039216	0.35989	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	T;T;T	0.23348	1.91;1.91;1.91	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000012	T	0.39358	0.1075	L	0.29908	0.895	0.34453	D	0.700904	D	0.89917	1.0	D	0.80764	0.994	T	0.53322	-0.8455	10	0.62326	D	0.03	-8.8458	14.5205	0.67847	1.0:0.0:0.0:0.0	.	296	P49750-4	.	C	296;296;296;9	ENSP00000447921:Y296C;ENSP00000324463:Y296C;ENSP00000238571:Y296C	ENSP00000238571:Y296C	Y	+	2	0	YLPM1	74314916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.108000	0.77055	2.167000	0.68274	0.482000	0.46254	TAT	YLPM1	-	NULL	ENSG00000119596		0.418	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1	-	0.00	30	0	A	NM_019589		75245163	+1	tier1	-	no_errors	ENST00000325680	ensembl	human	known	74_37	missense	39.53	26	17	SNP	1.000	G
YLPM1	56252	genome.wustl.edu	37	14	75277108	75277108	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr14:75277108G>A	ENST00000552421.1	+	8	3219	c.3095G>A	c.(3094-3096)cGa>cAa	p.R1032Q	YLPM1_ENST00000325680.7_Missense_Mutation_p.R1738Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1543Q			P49750	YLPM1_HUMAN	YLP motif containing 1	1543	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGAGAACGCCGACCCCGAGAT	0.383																																																	0													120.0	112.0	115.0					14																	75277108		1864	4093	5957	SO:0001583	missense	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3095G>A	14.37:g.75277108G>A	ENSP00000447921:p.Arg1032Gln		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R1738Q	ENST00000552421.1	37	c.5213		14	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410218	0.83340	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	T;T;T	0.05447	3.44;3.44;3.44	5.83	5.83	0.93111	.	0.108147	0.41001	D	0.000967	T	0.07593	0.0191	N	0.19112	0.55	0.26760	N	0.970016	D;D	0.65815	0.992;0.995	P;P	0.53649	0.535;0.731	T	0.34925	-0.9809	10	0.33141	T	0.24	-8.3108	7.6421	0.28300	0.1929:0.0:0.8071:0.0	.	1543;1738	P49750-3;P49750-4	.;.	Q	1032;1738;1543;1451;147	ENSP00000447921:R1032Q;ENSP00000324463:R1738Q;ENSP00000238571:R1543Q	ENSP00000238571:R1543Q	R	+	2	0	YLPM1	74346861	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.495000	0.60353	2.749000	0.94314	0.655000	0.94253	CGA	YLPM1	-	NULL	ENSG00000119596		0.383	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1	-	0.00	18	0	G	NM_019589		75277108	+1	tier1	-	no_errors	ENST00000325680	ensembl	human	known	74_37	missense	62.50	9	15	SNP	1.000	A
ZBTB18	10472	genome.wustl.edu	37	1	244217284	244217284	+	Missense_Mutation	SNP	G	G	A	rs373838988		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:244217284G>A	ENST00000358704.4	+	2	357	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	61	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGACAAAAGAGACATTGTTCA	0.493																																																	0								G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	107.0	94.0	99.0		181,208	5.0	1.0	1		99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF238	NM_006352.3,NM_205768.2	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	61/523,70/532	244217284	1,13005	2203	4300	6503	SO:0001583	missense	0			U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.208G>A	1.37:g.244217284G>A	ENSP00000351539:p.Asp70Asn		A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D70N	ENST00000358704.4	37	c.208	CCDS1622.1	1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513483	0.64522	0.0	1.16E-4	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.66460	-0.21	4.98	4.98	0.66077	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	L	0.44542	1.39	0.80722	D	1	B;B;B	0.20887	0.049;0.015;0.018	B;B;B	0.19148	0.019;0.013;0.024	T	0.61855	-0.6977	10	0.66056	D	0.02	.	18.2404	0.89966	0.0:0.0:1.0:0.0	.	70;61;70	B4DF20;Q99592;Q99592-2	.;ZN238_HUMAN;.	N	70	ENSP00000351539:D70N	ENSP00000351539:D70N	D	+	1	0	ZNF238	242283907	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.315000	0.78130	0.655000	0.94253	GAC	ZBTB18	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000179456		0.493	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB18	HGNC	protein_coding	OTTHUMT00000096513.2	-	0.00	23	0	G	NM_205768		244217284	+1	tier1	-	no_errors	ENST00000358704	ensembl	human	known	74_37	missense	17.65	28	6	SNP	1.000	A
ZMAT1	84460	genome.wustl.edu	37	X	101138438	101138439	+	3'UTR	INS	-	-	T	rs370996061		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chrX:101138438_101138439insT	ENST00000372782.3	-	0	2007_2008				ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_3'UTR|ZMAT1_ENST00000458570.1_3'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1							nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CATATTGACTGTTTTTTTTTTT	0.332																																																	0																																										SO:0001624	3_prime_UTR_variant	0			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.*44->A	X.37:g.101138449_101138449dupT			Q8NDS3|Q96JN6	RNA	INS	-	NULL	ENST00000372782.3	37	NULL	CCDS35348.1	X																																																																																			ZMAT1	-	-	ENSG00000166432		0.332	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1		0.00	20	0	-			101138439	-1	tier1		no_errors	ENST00000494068	ensembl	human	known	74_37	rna	17.86	23	5	INS	0.000:0.000	T
ZNF169	169841	genome.wustl.edu	37	9	97062537	97062537	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr9:97062537C>A	ENST00000395395.2	+	5	787	c.697C>A	c.(697-699)Cat>Aat	p.H233N	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CCACCAGAAGCATCATGTGTG	0.502																																																	0													67.0	62.0	64.0					9																	97062537		2203	4300	6503	SO:0001583	missense	0			U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.697C>A	9.37:g.97062537C>A	ENSP00000378792:p.His233Asn		A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H233N	ENST00000395395.2	37	c.697	CCDS6709.2	9	.	.	.	.	.	.	.	.	.	.	C	9.284	1.048775	0.19827	.	.	ENSG00000175787	ENST00000395395;ENST00000340911	T	0.27720	1.65	2.59	2.59	0.31030	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20251	0.0487	N	0.14661	0.345	0.80722	D	1	P	0.38711	0.643	B	0.39660	0.306	T	0.15636	-1.0430	9	0.87932	D	0	.	11.351	0.49587	0.0:1.0:0.0:0.0	.	233	Q14929	ZN169_HUMAN	N	233;42	ENSP00000378792:H233N	ENSP00000340711:H42N	H	+	1	0	ZNF169	96102358	0.000000	0.05858	0.545000	0.28153	0.783000	0.44284	-0.133000	0.10451	1.779000	0.52309	0.505000	0.49811	CAT	ZNF169	-	NULL	ENSG00000175787		0.502	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF169	HGNC	protein_coding	OTTHUMT00000253714.1		0.00	28	0	C	NM_194320		97062537	+1			no_errors	ENST00000395395	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.948	A
ZNF302	55900	genome.wustl.edu	37	19	35175973	35175973	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:35175973G>A	ENST00000446502.2	+	6	1371	c.1163G>A	c.(1162-1164)aGa>aAa	p.R388K	ZNF302_ENST00000423823.2_Missense_Mutation_p.R344K|ZNF302_ENST00000505242.1_Missense_Mutation_p.R344K|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000457781.2_Missense_Mutation_p.R344K			Q9NR11	ZN302_HUMAN	zinc finger protein 302	423					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)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TATGAATGTAGAGAATGTGGG	0.393																																																	0													39.0	40.0	40.0					19																	35175973		2200	4300	6500	SO:0001583	missense	0			AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.1163G>A	19.37:g.35175973G>A	ENSP00000396379:p.Arg388Lys		Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R344K	ENST00000446502.2	37	c.1031		19	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.944246	0.00052	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000423823;ENST00000446502	T;T;T;T	0.15952	2.6;2.6;2.6;2.38	0.967	0.967	0.19674	.	.	.	.	.	T	0.07458	0.0188	N	0.17082	0.46	0.09310	N	1	B;B	0.19583	0.037;0.011	B;B	0.22386	0.039;0.005	T	0.41378	-0.9512	9	0.02654	T	1	.	4.9136	0.13835	0.0:0.3938:0.6062:0.0	.	388;344	E7EVR1;Q9NR11-2	.;.	K	344;344;344;388	ENSP00000391067:R344K;ENSP00000421028:R344K;ENSP00000405219:R344K;ENSP00000396379:R388K	ENSP00000405219:R344K	R	+	2	0	ZNF302	39867813	0.000000	0.05858	0.810000	0.32431	0.110000	0.19582	-1.253000	0.02877	0.822000	0.34565	0.467000	0.42956	AGA	ZNF302	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000089335		0.393	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	ZNF302	HGNC	protein_coding	OTTHUMT00000372731.1	-	0.00	65	0	G			35175973	+1	tier1	-	no_errors	ENST00000423823	ensembl	human	known	74_37	missense	34.85	43	23	SNP	0.083	A
ZNF460	10794	genome.wustl.edu	37	19	57802468	57802468	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:57802468G>C	ENST00000360338.3	+	3	881	c.559G>C	c.(559-561)Gag>Cag	p.E187Q	ZNF460_ENST00000537645.1_Missense_Mutation_p.E146Q	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTTCAGCATGAGCAGATTCT	0.438																																																	0													89.0	88.0	88.0					19																	57802468		2203	4300	6503	SO:0001583	missense	0			X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.559G>C	19.37:g.57802468G>C	ENSP00000353491:p.Glu187Gln		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E187Q	ENST00000360338.3	37	c.559	CCDS12949.1	19	.	.	.	.	.	.	.	.	.	.	G	1.396	-0.579341	0.03854	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.13657	2.57;2.57	1.54	-2.58	0.06228	.	.	.	.	.	T	0.03783	0.0107	N	0.04162	-0.26	0.09310	N	0.999998	B	0.18166	0.026	B	0.10450	0.005	T	0.40213	-0.9575	9	0.02654	T	1	.	3.6902	0.08343	0.3247:0.4152:0.2601:0.0	.	187	Q14592	ZN460_HUMAN	Q	146;187	ENSP00000446167:E146Q;ENSP00000353491:E187Q	ENSP00000353491:E187Q	E	+	1	0	ZNF460	62494280	0.000000	0.05858	0.017000	0.16124	0.738000	0.42128	-0.227000	0.09126	-0.682000	0.05197	0.555000	0.69702	GAG	ZNF460	-	NULL	ENSG00000197714		0.438	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF460	HGNC	protein_coding	OTTHUMT00000465727.1	-	0.00	37	0	G	NM_006635		57802468	+1	tier1	-	no_errors	ENST00000360338	ensembl	human	known	74_37	missense	29.41	24	10	SNP	0.486	C
ZNF532	55205	genome.wustl.edu	37	18	56651290	56651290	+	Silent	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr18:56651290G>A	ENST00000336078.4	+	11	4274	c.3498G>A	c.(3496-3498)ctG>ctA	p.L1166L	ZNF532_ENST00000589288.1_Silent_p.L1166L|ZNF532_ENST00000591083.1_Silent_p.L1166L|ZNF532_ENST00000591230.1_Silent_p.L1166L|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000591808.1_Silent_p.L1166L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						TGAAAAAGCTGAAAATCAATG	0.498																																																	0													63.0	62.0	63.0					18																	56651290		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3498G>A	18.37:g.56651290G>A			Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1166	ENST00000336078.4	37	c.3498	CCDS11969.1	18																																																																																			ZNF532	-	NULL	ENSG00000074657		0.498	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	HGNC	protein_coding	OTTHUMT00000256130.1	-	0.00	63	0	G	NM_018181		56651290	+1	tier1	-	no_errors	ENST00000336078	ensembl	human	known	74_37	silent	10.29	61	7	SNP	0.039	A
ZNF541	84215	genome.wustl.edu	37	19	48048783	48048783	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:48048783G>A	ENST00000391901.3	-	3	1002	c.1003C>T	c.(1003-1005)Ccc>Tcc	p.P335S	ZNF541_ENST00000448976.1_Missense_Mutation_p.P335S|ZNF541_ENST00000314121.4_Missense_Mutation_p.P335S			Q9H0D2	ZN541_HUMAN	zinc finger protein 541	335					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|lung(2)|prostate(1)|skin(1)	9						GGCTCCTCGGGAAGCTCGGTG	0.711																																																	0													19.0	22.0	21.0					19																	48048783		692	1591	2283	SO:0001583	missense	0			AL136846	CCDS46133.1, CCDS46133.2	19q13.33	2013-01-08			ENSG00000118156	ENSG00000118156		"""Zinc fingers, C2H2-type"""	25294	protein-coding gene	gene with protein product						11230166	Standard	NM_001277075		Approved	DKFZp434I1930	uc002phg.5	Q9H0D2	OTTHUMG00000141262	ENST00000391901.3:c.1003C>T	19.37:g.48048783G>A	ENSP00000375770:p.Pro335Ser		Q8NDK8	Missense_Mutation	SNP	pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.P335S	ENST00000391901.3	37	c.1003		19	.	.	.	.	.	.	.	.	.	.	G	4.621	0.115404	0.08831	.	.	ENSG00000118156	ENST00000391901;ENST00000314121;ENST00000448976	T;T;T	0.15256	2.52;2.45;2.44	4.58	1.29	0.21616	.	.	.	.	.	T	0.18841	0.0452	L	0.27053	0.805	0.09310	N	1	B;B;D	0.55385	0.079;0.035;0.971	B;B;P	0.55455	0.021;0.019;0.776	T	0.12116	-1.0560	9	0.51188	T	0.08	-0.3786	6.4721	0.22013	0.3059:0.0:0.6941:0.0	.	335;335;335	Q9H0D2;Q9H0D2-2;Q9H0D2-3	ZN541_HUMAN;.;.	S	335	ENSP00000375770:P335S;ENSP00000313258:P335S;ENSP00000410847:P335S	ENSP00000313258:P335S	P	-	1	0	ZNF541	52740595	0.018000	0.18449	0.000000	0.03702	0.022000	0.10575	0.448000	0.21726	0.184000	0.20083	0.561000	0.74099	CCC	ZNF541	-	NULL	ENSG00000118156		0.711	ZNF541-001	KNOWN	basic|appris_candidate|exp_conf	protein_coding	ZNF541	HGNC	protein_coding	OTTHUMT00000280415.1	-	0.00	100	0	G	NM_032255		48048783	-1	tier1	-	no_errors	ENST00000314121	ensembl	human	known	74_37	missense	28.57	50	20	SNP	0.001	A
ZNF578	147660	genome.wustl.edu	37	19	53014448	53014448	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:53014448C>T	ENST00000421239.2	+	6	1058	c.814C>T	c.(814-816)Cga>Tga	p.R272*	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TAATGAGAAGCGATACCTTGC	0.368																																																	0													111.0	116.0	114.0					19																	53014448		2202	4299	6501	SO:0001587	stop_gained	0			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.814C>T	19.37:g.53014448C>T	ENSP00000459216:p.Arg272*		B4DR51|I3L1Y6	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R272*	ENST00000421239.2	37	c.814	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	15.27	2.784303	0.49997	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.3	-2.59	0.06209	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8938	0.01260	0.1976:0.3792:0.1984:0.2248	.	.	.	.	X	272	.	.	R	+	1	2	ZNF578	57706260	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-1.762000	0.01803	-0.202000	0.10268	0.297000	0.19635	CGA	ZNF578	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000258405		0.368	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	-	0.00	88	0	C	NM_152472		53014448	+1	tier1	-	no_errors	ENST00000421239	ensembl	human	known	74_37	nonsense	6.10	76	5	SNP	0.000	T
ZNF644	84146	genome.wustl.edu	37	1	91406192	91406192	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:91406192G>T	ENST00000370440.1	-	3	936	c.719C>A	c.(718-720)aCa>aAa	p.T240K	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.T240K|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	240					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.T240K(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCCCGTTACTGTATTGACACA	0.368																																																	1	Substitution - Missense(1)	lung(1)											170.0	174.0	173.0					1																	91406192		2203	4300	6503	SO:0001583	missense	0			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.719C>A	1.37:g.91406192G>T	ENSP00000359469:p.Thr240Lys		A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T240K	ENST00000370440.1	37	c.719	CCDS731.1	1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331023	0.41297	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	T;T	0.00596	6.32;6.32	6.03	6.03	0.97812	.	0.471757	0.23702	N	0.045415	T	0.00328	0.0010	N	0.19112	0.55	0.34492	D	0.705128	B	0.18166	0.026	B	0.18561	0.022	T	0.70454	-0.4867	10	0.35671	T	0.21	-0.0974	20.5568	0.99304	0.0:0.0:1.0:0.0	.	240	Q9H582	ZN644_HUMAN	K	240	ENSP00000359469:T240K;ENSP00000337008:T240K	ENSP00000337008:T240K	T	-	2	0	ZNF644	91178780	0.988000	0.35896	0.924000	0.36721	0.958000	0.62258	4.061000	0.57485	2.861000	0.98227	0.655000	0.94253	ACA	ZNF644	-	NULL	ENSG00000122482		0.368	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2		0.00	25	0	G	NM_032186		91406192	-1			no_errors	ENST00000337393	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.979	T
ZNF678	339500	genome.wustl.edu	37	1	227751338	227751338	+	5'UTR	SNP	G	G	T			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:227751338G>T	ENST00000343776.5	+	0	95				ZNF678_ENST00000608949.1_5'UTR|ZNF678_ENST00000465266.1_3'UTR|ZNF678_ENST00000397097.3_5'UTR|RNA5SP77_ENST00000365394.1_RNA	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TGGTGACTCTGCTGCTGCAGT	0.582																																																	0													35.0	40.0	38.0					1																	227751338		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.-251G>T	1.37:g.227751338G>T			Q8IVQ9	RNA	SNP	-	NULL	ENST00000343776.5	37	NULL		1																																																																																			ZNF678	-	-	ENSG00000181450		0.582	ZNF678-001	KNOWN	basic	protein_coding	ZNF678	HGNC	protein_coding	OTTHUMT00000091976.2	-	0.00	68	0	G	NM_178549		227751338	+1	tier1	-	no_errors	ENST00000465266	ensembl	human	known	74_37	rna	44.30	44	35	SNP	0.007	T
