#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_EVS_AA	i_EVS_All	i_EVS_EA	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_WU	i_deletion_substructures_WU	i_domain_WU	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADA	100	genome.wustl.edu	37	20	43257689	43257689	+	Splice_Site	SNP	C	C	T			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr20:43257689C>T	ENST00000372874.4	-	3	351	c.217G>A	c.(217-219)Gcg>Acg	p.A73T	ADA_ENST00000464097.1_5'Flank|ADA_ENST00000537820.1_Splice_Site_p.A73T	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	73					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	GCAACTCACGCGATAGCAGGC	0.577									Adenosine Deaminase Deficiency																													dbGAP											0													164.0	119.0	134.0					20																	43257689		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.218+1G>A	20.37:g.43257689C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53F92|Q6LA59	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase	p.A73T	ENST00000372874.4	37	c.217	CCDS13335.1	20	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685211	0.88639	.	.	ENSG00000196839	ENST00000372874;ENST00000537820	D;D	0.95412	-3.7;-3.7	5.84	5.84	0.93424	Adenosine/AMP deaminase (1);	0.049571	0.85682	D	0.000000	D	0.94751	0.8306	M	0.68728	2.09	0.80722	D	1	D	0.56521	0.976	P	0.44447	0.45	D	0.93126	0.6529	10	0.21014	T	0.42	-0.9005	18.8993	0.92435	0.0:1.0:0.0:0.0	.	73	P00813	ADA_HUMAN	T	73	ENSP00000361965:A73T;ENSP00000441818:A73T	ENSP00000361965:A73T	A	-	1	0	ADA	42691103	1.000000	0.71417	0.965000	0.40720	0.698000	0.40448	6.505000	0.73708	2.768000	0.95171	0.561000	0.74099	GCG	ADA	-	pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase	ENSG00000196839		0.577	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADA	HGNC	protein_coding	OTTHUMT00000080509.2	35	0.00	0	C	NM_000022	Missense_Mutation	43257689	43257689	-1	no_errors	ENST00000372874	ensembl	human	known	69_37n	missense	34	19.05	8	SNP	1.000	T
AHCTF1	25909	genome.wustl.edu	37	1	247039420	247039420	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr1:247039420delT	ENST00000391829.2	-	24	3130	c.3007delA	c.(3007-3009)atcfs	p.I1003fs	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Frame_Shift_Del_p.I1038fs|AHCTF1_ENST00000326225.3_Frame_Shift_Del_p.I1012fs			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1003					cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTAGGAAGGATTTTTCCATAC	0.353																																					Colon(145;197 1800 4745 15099 26333)	dbGAP											0													46.0	48.0	47.0					1																	247039420		2203	4294	6497	-	-	-	SO:0001589	frameshift_variant	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3007delA	1.37:g.247039420delT	ENSP00000375705:p.Ile1003fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Frame_Shift_Del	DEL	superfamily_Quinonprotein_ADH-like	p.I1012fs	ENST00000391829.2	37	c.3034		1																																																																																			AHCTF1	-	NULL	ENSG00000153207		0.353	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		81	0.00	0	T	NM_015446		247039420	247039420	-1	no_errors	ENST00000326225	ensembl	human	known	69_37n	frame_shift_del	45	16.36	9	DEL	0.994	-
ANKRD20A4	728747	genome.wustl.edu	37	9	69423558	69423558	+	Silent	SNP	C	C	T	rs199996482		TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr9:69423558C>T	ENST00000357336.3	+	15	2135	c.1854C>T	c.(1852-1854)agC>agT	p.S618S		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	618										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						CTGCTATAAGCAAACACAGTG	0.378																																						dbGAP											0													5.0	8.0	7.0					9																	69423558		1307	3030	4337	-	-	-	SO:0001819	synonymous_variant	0				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1854C>T	9.37:g.69423558C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S618	ENST00000357336.3	37	c.1854	CCDS43828.1	9																																																																																			ANKRD20A4	-	NULL	ENSG00000172014		0.378	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	HGNC	protein_coding	OTTHUMT00000143287.3	36	0.00	0	C	NM_001098805		69423558	69423558	+1	no_errors	ENST00000357336	ensembl	human	known	69_37n	silent	34	17.07	7	SNP	0.000	T
ATP11A	23250	genome.wustl.edu	37	13	113477668	113477669	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr13:113477668_113477669insTC	ENST00000487903.1	+	9	823_824	c.735_736insTC	c.(736-738)tcgfs	p.S246fs	ATP11A_ENST00000375630.2_Frame_Shift_Ins_p.S246fs|ATP11A_ENST00000375645.3_Frame_Shift_Ins_p.S246fs|ATP11A_ENST00000283558.8_Frame_Shift_Ins_p.S246fs			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	246					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GGCCCTTAGGATCGGAAAACCT	0.446																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.736_737dupTC	13.37:g.113477669_113477670dupTC	ENSP00000420387:p.Ser246fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXT2	Frame_Shift_Ins	INS	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.E246fs	ENST00000487903.1	37	c.735_736	CCDS32011.1	13																																																																																			ATP11A	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000068650		0.446	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3	136	0.00	0	-	NM_015205		113477668	113477669	+1	no_errors	ENST00000375630	ensembl	human	known	69_37n	frame_shift_ins	80	36.00	45	INS	0.994:0.999	TC
ATP1B3	483	genome.wustl.edu	37	3	141622516	141622516	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr3:141622516C>G	ENST00000286371.3	+	2	352	c.164C>G	c.(163-165)tCa>tGa	p.S55*	ATP1B3_ENST00000462082.1_Missense_Mutation_p.H9D|ATP1B3_ENST00000539728.1_Nonsense_Mutation_p.S41*|RNU6-509P_ENST00000363519.1_RNA	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	55					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	caveola (GO:0005901)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)			cervix(1)|endometrium(1)|lung(2)	4						GCACTCTTCTCATTCACGATG	0.413																																						dbGAP											0													163.0	149.0	154.0					3																	141622516		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC011835	CCDS3121.1	3q23	2012-10-22			ENSG00000069849	ENSG00000069849		"""CD molecules"", ""ATPases / P-type"""	806	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-3"", ""sodium pump subunit beta-3"", ""sodium-potassium ATPase subunit beta 3 (non-catalytic)"""	601867				8798450, 9457675	Standard	NM_001679		Approved	FLJ29027, CD298	uc003eug.1	P54709	OTTHUMG00000159081	ENST00000286371.3:c.164C>G	3.37:g.141622516C>G	ENSP00000286371:p.Ser55*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1N7	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	p.S55*	ENST00000286371.3	37	c.164	CCDS3121.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.727523|6.727523	0.97792|0.97792	.|.	.|.	ENSG00000069849|ENSG00000069849	ENST00000462082|ENST00000286371;ENST00000539728;ENST00000495216	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.547896	.|0.20862	.|N	.|0.084328	T|.	0.72622|.	0.3483|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.67133|.	-0.5747|.	4|.	0.87932|0.30078	D|T	0|0.28	-8.0341|-8.0341	19.6022|19.6022	0.95568|0.95568	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	9|55;41;41	.|.	ENSP00000418353:H9D|ENSP00000286371:S55X	H|S	+|+	1|2	0|0	ATP1B3|ATP1B3	143105206|143105206	0.731000|0.731000	0.28111|0.28111	0.479000|0.479000	0.27329|0.27329	0.979000|0.979000	0.70002|0.70002	3.536000|3.536000	0.53582|0.53582	2.706000|2.706000	0.92434|0.92434	0.555000|0.555000	0.69702|0.69702	CAT|TCA	ATP1B3	-	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	ENSG00000069849		0.413	ATP1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1B3	HGNC	protein_coding	OTTHUMT00000353218.1	263	0.00	0	C	NM_001679		141622516	141622516	+1	no_errors	ENST00000286371	ensembl	human	known	69_37n	nonsense	258	23.21	78	SNP	0.753	G
B4GALNT4	338707	genome.wustl.edu	37	11	380920	380921	+	Frame_Shift_Ins	INS	-	-	G	rs202153599|rs35951843		TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr11:380920_380921insG	ENST00000329962.6	+	19	2965_2966	c.2965_2966insG	c.(2965-2967)tggfs	p.W989fs		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	989					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGAGACCAGTGGGGGGGTGAA	0.604																																						dbGAP											0										15,4247		0,15,2116						3.8	1.0		dbSNP_126	50	10,8244		0,10,4117	no	frameshift	B4GALNT4	NM_178537.4		0,25,6233	A1A1,A1R,RR		0.1212,0.3519,0.1997				25,12491				-	-	-	SO:0001589	frameshift_variant	0			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2972dupG	11.37:g.380927_380927dupG	ENSP00000328277:p.Trp989fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96LV2	Frame_Shift_Ins	INS	pfam_Chond_GalNAc,pfam_PA14,smart_PA14	p.E992fs	ENST00000329962.6	37	c.2965_2966	CCDS7694.1	11																																																																																			B4GALNT4	-	pfam_Chond_GalNAc	ENSG00000182272		0.604	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT4	HGNC	protein_coding	OTTHUMT00000239289.2	27	0.00	0	-	NM_178537		380920	380921	+1	no_errors	ENST00000329962	ensembl	human	known	69_37n	frame_shift_ins	19	17.39	4	INS	1.000:1.000	G
BICD1	636	genome.wustl.edu	37	12	32520614	32520614	+	Silent	SNP	G	G	A			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr12:32520614G>A	ENST00000281474.5	+	9	2878	c.2775G>A	c.(2773-2775)caG>caA	p.Q925Q	BICD1_ENST00000548411.1_Missense_Mutation_p.S824N	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	925					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ATTGTCAGCAGCCTGCTGCCT	0.488																																						dbGAP											0													101.0	92.0	95.0					12																	32520614		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2775G>A	12.37:g.32520614G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC-like	p.S824N	ENST00000281474.5	37	c.2471	CCDS8726.1	12	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703706	0.68501	.	.	ENSG00000151746	ENST00000548411	T	0.46819	0.86	5.34	5.34	0.76211	.	.	.	.	.	T	0.64114	0.2569	.	.	.	0.80722	D	1	D	0.61080	0.989	D	0.72982	0.979	T	0.56595	-0.7953	8	0.15066	T	0.55	.	19.0644	0.93104	0.0:0.0:1.0:0.0	.	824	F8W113	.	N	824	ENSP00000446793:S824N	ENSP00000446793:S824N	S	+	2	0	BICD1	32411881	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.804000	0.91921	2.496000	0.84212	0.655000	0.94253	AGC	BICD1	-	NULL	ENSG00000151746		0.488	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICD1	HGNC	protein_coding	OTTHUMT00000403380.1	69	0.00	0	G	NM_001714		32520614	32520614	+1	no_errors	ENST00000548411	ensembl	human	known	69_37n	missense	58	10.77	7	SNP	1.000	A
BMP4	652	genome.wustl.edu	37	14	54416966	54416966	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr14:54416966G>T	ENST00000245451.4	-	4	1404	c.1011C>A	c.(1009-1011)tgC>tgA	p.C337*	BMP4_ENST00000417573.1_Nonsense_Mutation_p.C337*|BMP4_ENST00000558984.1_Nonsense_Mutation_p.C337*|BMP4_ENST00000559087.1_Nonsense_Mutation_p.C337*|MIR5580_ENST00000580850.1_RNA	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	337					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						AGTCCCCATGGCAGTAGAAGG	0.552																																						dbGAP											0													108.0	87.0	94.0					14																	54416966		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.1011C>A	14.37:g.54416966G>T	ENSP00000245451:p.Cys337*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UM80	Nonsense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.C337*	ENST00000245451.4	37	c.1011	CCDS9715.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.150389	0.94645	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	.	.	.	5.4	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1963	0.59740	0.0759:0.0:0.9241:0.0	.	.	.	.	X	337	.	ENSP00000245451:C337X	C	-	3	2	BMP4	53486716	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.471000	0.80985	1.517000	0.48917	0.563000	0.77884	TGC	BMP4	-	pfam_TGF-b_C,smart_TGF-b_C	ENSG00000125378		0.552	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP4	HGNC	protein_coding	OTTHUMT00000276894.2	99	0.00	0	G	NM_001202		54416966	54416966	-1	no_errors	ENST00000245451	ensembl	human	known	69_37n	nonsense	48	23.81	15	SNP	1.000	T
C12orf71	728858	genome.wustl.edu	37	12	27235309	27235309	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr12:27235309C>A	ENST00000429849.2	-	1	138	c.108G>T	c.(106-108)gaG>gaT	p.E36D		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	36										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						AGGTTGTGTCCTCACAGGGGG	0.552																																						dbGAP											0													48.0	46.0	47.0					12																	27235309		1908	4117	6025	-	-	-	SO:0001583	missense	0				CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.108G>T	12.37:g.27235309C>A	ENSP00000413728:p.Glu36Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E36D	ENST00000429849.2	37	c.108	CCDS44851.1	12	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797639	0.31777	.	.	ENSG00000214700	ENST00000398815;ENST00000429849	T	0.50001	0.76	3.11	2.15	0.27550	.	0.277128	0.19208	U	0.120011	T	0.33614	0.0869	L	0.32530	0.975	0.09310	N	1	B	0.29835	0.258	B	0.28849	0.095	T	0.23868	-1.0176	10	0.56958	D	0.05	-1.9179	7.8514	0.29457	0.0:0.7414:0.2586:0.0	.	36	A8MTZ7	CL071_HUMAN	D	36	ENSP00000413728:E36D	ENSP00000381796:E36D	E	-	3	2	C12orf71	27126576	0.002000	0.14202	0.004000	0.12327	0.347000	0.29111	-0.099000	0.11007	0.590000	0.29694	0.511000	0.50034	GAG	C12orf71	-	NULL	ENSG00000214700		0.552	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf71	HGNC	protein_coding	OTTHUMT00000403258.1	134	0.00	0	C	NM_001080406		27235309	27235309	-1	no_errors	ENST00000429849	ensembl	human	known	69_37n	missense	72	24.74	24	SNP	0.010	A
CARD14	79092	genome.wustl.edu	37	17	78171932	78171932	+	Silent	SNP	C	C	T			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr17:78171932C>T	ENST00000573882.1	+	14	2165	c.1629C>T	c.(1627-1629)gtC>gtT	p.V543V	CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Silent_p.V306V|RP11-334C17.5_ENST00000570309.1_RNA|CARD14_ENST00000344227.2_Silent_p.V543V|CARD14_ENST00000570421.1_Silent_p.V543V			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	543					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGCAGCCAGTCTCCCCTGGAA	0.622																																						dbGAP											0													77.0	79.0	78.0					17																	78171932		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1629C>T	17.37:g.78171932C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B8QQJ3|Q9BVB5	Missense_Mutation	SNP	superfamily_PDZ	p.L340F	ENST00000573882.1	37	c.1018	CCDS11768.1	17																																																																																			CARD14	-	NULL	ENSG00000141527		0.622	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	HGNC	protein_coding	OTTHUMT00000437507.1	28	0.00	0	C			78171932	78171932	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000571450	ensembl	human	known	69_37n	missense	21	19.23	5	SNP	0.000	T
CBS	875	genome.wustl.edu	37	21	44479399	44479399	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr21:44479399C>T	ENST00000398165.3	-	13	1419	c.1160G>A	c.(1159-1161)aGc>aAc	p.S387N	CBS_ENST00000352178.5_Missense_Mutation_p.S387N|CBS_ENST00000544202.1_Missense_Mutation_p.S299N|CBS_ENST00000398158.1_Missense_Mutation_p.S387N|CBS_ENST00000398168.1_Missense_Mutation_p.S387N|CBS_ENST00000359624.3_Missense_Mutation_p.S387N	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	387					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	CCACCTGTCGCTCAGGAACTT	0.687																																						dbGAP											0													60.0	61.0	61.0					21																	44479399		2203	4300	6503	-	-	-	SO:0001583	missense	0			L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.1160G>A	21.37:g.44479399C>T	ENSP00000381231:p.Ser387Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R993|D3DSK4|Q99425|Q9BWC5	Missense_Mutation	SNP	pfam_PyrdxlP-dep_enz_bsu,pfam_Cysta_beta_synth_core,superfamily_PyrdxlP-dep_enz_bsu,smart_Cysta_beta_synth_core,tigrfam_Cysta_beta_synth	p.S387N	ENST00000398165.3	37	c.1160	CCDS13693.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.73|10.73	1.432567|1.432567	0.25813|0.25813	.|.	.|.	ENSG00000160200|ENSG00000160200	ENST00000430013|ENST00000398158;ENST00000398165;ENST00000359624;ENST00000352178;ENST00000398168;ENST00000539520;ENST00000544202	.|D;D;D;D;D;D	.|0.99158	.|-5.5;-5.5;-5.5;-5.5;-5.5;-5.5	4.74|4.74	4.74|4.74	0.60224|0.60224	.|Pyridoxal phosphate-dependent enzyme, beta subunit (1);	.|0.149485	.|0.64402	.|D	.|0.000012	D|D	0.97259|0.97259	0.9104|0.9104	M|M	0.62016|0.62016	1.91|1.91	0.47374|0.47374	D|D	0.999402|0.999402	.|B;B;B	.|0.09022	.|0.002;0.001;0.001	.|B;B;B	.|0.08055	.|0.003;0.002;0.002	D|D	0.95457|0.95457	0.8539|0.8539	5|10	.|0.20046	.|T	.|0.44	-8.2436|-8.2436	10.2457|10.2457	0.43339|0.43339	0.0:0.9069:0.0:0.0931|0.0:0.9069:0.0:0.0931	.|.	.|387;387;344	.|P35520-2;P35520;B7Z2D6	.|.;CBS_HUMAN;.	T|N	41|387;387;387;387;387;344;299	.|ENSP00000381225:S387N;ENSP00000381231:S387N;ENSP00000352643:S387N;ENSP00000344460:S387N;ENSP00000381234:S387N;ENSP00000439332:S299N	.|ENSP00000344460:S387N	A|S	-|-	1|2	0|0	CBS|CBS	43352468|43352468	0.986000|0.986000	0.35501|0.35501	0.955000|0.955000	0.39395|0.39395	0.366000|0.366000	0.29705|0.29705	2.350000|2.350000	0.44063|0.44063	2.197000|2.197000	0.70478|0.70478	0.563000|0.563000	0.77884|0.77884	GCG|AGC	CBS	-	superfamily_PyrdxlP-dep_enz_bsu,tigrfam_Cysta_beta_synth	ENSG00000160200		0.687	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CBS	HGNC	protein_coding	OTTHUMT00000195525.1	13	0.00	0	C	NM_000071		44479399	44479399	-1	no_errors	ENST00000398168	ensembl	human	known	69_37n	missense	6	50.00	6	SNP	0.993	T
CCDC39	339829	genome.wustl.edu	37	3	180359800	180359800	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr3:180359800G>A	ENST00000442201.2	-	13	1974	c.1855C>T	c.(1855-1857)Caa>Taa	p.Q619*	CCDC39_ENST00000273654.4_Nonsense_Mutation_p.Q703*	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	619					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCCCGTTCTTGATCAACATAT	0.363																																						dbGAP											0													144.0	133.0	136.0					3																	180359800		1835	4093	5928	-	-	-	SO:0001587	stop_gained	0			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1855C>T	3.37:g.180359800G>A	ENSP00000405708:p.Gln619*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2H1	Nonsense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.Q619*	ENST00000442201.2	37	c.1855	CCDS46964.1	3	.	.	.	.	.	.	.	.	.	.	G	46	12.945059	0.99708	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	.	.	.	4.9	4.9	0.64082	.	0.175092	0.50627	D	0.000108	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-22.3128	18.0982	0.89497	0.0:0.0:1.0:0.0	.	.	.	.	X	703;619	.	ENSP00000273654:Q703X	Q	-	1	0	CCDC39	181842494	1.000000	0.71417	0.985000	0.45067	0.923000	0.55619	7.360000	0.79487	2.422000	0.82143	0.579000	0.79373	CAA	CCDC39	-	NULL	ENSG00000145075		0.363	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC39	HGNC	protein_coding	OTTHUMT00000349783.3	140	0.00	0	G	XM_291028		180359800	180359800	-1	no_errors	ENST00000442201	ensembl	human	known	69_37n	nonsense	150	20.11	38	SNP	1.000	A
CDC20B	166979	genome.wustl.edu	37	5	54436170	54436170	+	Silent	SNP	G	G	C			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr5:54436170G>C	ENST00000381375.2	-	5	697	c.552C>G	c.(550-552)ctC>ctG	p.L184L	CDC20B_ENST00000322374.6_Silent_p.L184L|CDC20B_ENST00000296733.1_Silent_p.L184L|CDC20B_ENST00000331730.3_Silent_p.L163L|CDC20B_ENST00000334206.5_Silent_p.L184L			Q86Y33	CD20B_HUMAN	cell division cycle 20B	184										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATTGCTCACAGAGCTGCATTT	0.408																																						dbGAP											0													114.0	96.0	102.0					5																	54436170		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.552C>G	5.37:g.54436170G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L184	ENST00000381375.2	37	c.552	CCDS54852.1	5																																																																																			CDC20B	-	NULL	ENSG00000164287		0.408	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CDC20B	HGNC	protein_coding	OTTHUMT00000369715.1	224	0.00	0	G	NM_152623		54436170	54436170	-1	no_errors	ENST00000296733	ensembl	human	known	69_37n	silent	155	15.14	28	SNP	0.997	C
CDH11	1009	genome.wustl.edu	37	16	65032473	65032473	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr16:65032473G>T	ENST00000268603.4	-	4	1130	c.515C>A	c.(514-516)tCc>tAc	p.S172Y	CDH11_ENST00000394156.3_Missense_Mutation_p.S172Y|CDH11_ENST00000566827.1_Missense_Mutation_p.S46Y	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	172	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ACCCACATTGGACCTCTCAGG	0.572			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												dbGAP		Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	0													125.0	117.0	119.0					16																	65032473		2203	4300	6503	-	-	-	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.515C>A	16.37:g.65032473G>T	ENSP00000268603:p.Ser172Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S172Y	ENST00000268603.4	37	c.515	CCDS10803.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.409698|4.409698	0.83340|0.83340	.|.	.|.	ENSG00000140937|ENSG00000140937	ENST00000536902|ENST00000268603;ENST00000394156;ENST00000538390	.|T;T	.|0.54279	.|0.58;0.58	5.24|5.24	5.24|5.24	0.73138|0.73138	.|Cadherin (4);Cadherin-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78604|0.78604	0.4309|0.4309	M|M	0.90542|0.90542	3.125|3.125	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.994	T|T	0.82491|0.82491	-0.0431|-0.0431	6|10	0.87932|0.87932	D|D	0|0	.|.	18.3537|18.3537	0.90348|0.90348	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|172;172	.|P55287-2;P55287	.|.;CAD11_HUMAN	T|Y	166|172;172;155	.|ENSP00000268603:S172Y;ENSP00000377711:S172Y	ENSP00000442264:P166T|ENSP00000268603:S172Y	P|S	-|-	1|2	0|0	CDH11|CDH11	63589974|63589974	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.882000|0.882000	0.50991|0.50991	7.669000|7.669000	0.83911|0.83911	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	CCA|TCC	CDH11	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000140937		0.572	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	204	0.00	0	G	NM_033664		65032473	65032473	-1	no_errors	ENST00000268603	ensembl	human	known	69_37n	missense	194	19.83	48	SNP	1.000	T
CDKL2	8999	genome.wustl.edu	37	4	76529120	76529120	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr4:76529120G>A	ENST00000429927.2	-	6	1379	c.676C>T	c.(676-678)Cag>Tag	p.Q226*	CDKL2_ENST00000307465.4_Nonsense_Mutation_p.Q226*	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	226	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AAAAGCTCCTGATGCCTTGGA	0.393																																						dbGAP											0													82.0	84.0	83.0					4																	76529120		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.676C>T	4.37:g.76529120G>A	ENSP00000412365:p.Gln226*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R695	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q226*	ENST00000429927.2	37	c.676	CCDS3570.1	4	.	.	.	.	.	.	.	.	.	.	G	43	9.977102	0.99309	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-15.6354	17.545	0.87858	0.0:0.0:1.0:0.0	.	.	.	.	X	226	.	ENSP00000306340:Q226X	Q	-	1	0	CDKL2	76748144	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.097000	0.71452	2.680000	0.91292	0.563000	0.77884	CAG	CDKL2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000138769		0.393	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKL2	HGNC	protein_coding	OTTHUMT00000252409.2	140	0.00	0	G	NM_003948		76529120	76529120	-1	no_errors	ENST00000429927	ensembl	human	known	69_37n	nonsense	62	21.52	17	SNP	1.000	A
CHD7	55636	genome.wustl.edu	37	8	61693870	61693870	+	Silent	SNP	C	C	A			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr8:61693870C>A	ENST00000423902.2	+	3	2456	c.1977C>A	c.(1975-1977)ccC>ccA	p.P659P	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Silent_p.P659P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	659	Lys-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CGAAAGAACCCAAGGAGAAAA	0.443																																						dbGAP											1	Insertion - In frame(1)	lung(1)											33.0	36.0	35.0					8																	61693870		1783	4058	5841	-	-	-	SO:0001819	synonymous_variant	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.1977C>A	8.37:g.61693870C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P659	ENST00000423902.2	37	c.1977	CCDS47865.1	8																																																																																			CHD7	-	NULL	ENSG00000171316		0.443	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	243	0.00	0	C	XM_098762		61693870	61693870	+1	no_errors	ENST00000307121	ensembl	human	known	69_37n	silent	140	15.66	26	SNP	1.000	A
FAR2P1	440905	genome.wustl.edu	37	2	130806940	130806941	+	RNA	INS	-	-	A			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr2:130806940_130806941insA	ENST00000325390.3	-	0	1360_1361					NR_026758.1																						GGTACTGAGCTCCAAGATGTCA	0.545																																						dbGAP											0																																										-	-	-			0																															2.37:g.130806940_130806941insA		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	INS	-	NULL	ENST00000325390.3	37	NULL		2																																																																																			AC018865.8	-	-	ENSG00000180178		0.545	AC018865.8-002	KNOWN	basic	processed_transcript	CYP4F43P	Clone_based_vega_gene	pseudogene	OTTHUMT00000331630.3	9	0.00	0	-			130806940	130806941	-1	no_errors	ENST00000325390	ensembl	human	known	69_37n	rna	4	33.33	2	INS	0.020:0.021	A
ELL2	22936	genome.wustl.edu	37	5	95236466	95236466	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr5:95236466C>G	ENST00000237853.4	-	7	1234	c.885G>C	c.(883-885)caG>caC	p.Q295H	ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	295					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CTGCAGCATTCTGAGACGGAT	0.403																																						dbGAP											0													68.0	68.0	68.0					5																	95236466		2203	4300	6503	-	-	-	SO:0001583	missense	0			U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.885G>C	5.37:g.95236466C>G	ENSP00000237853:p.Gln295His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNK7	Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.Q295H	ENST00000237853.4	37	c.885	CCDS4080.1	5	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788956	0.31685	.	.	ENSG00000118985	ENST00000237853;ENST00000513343	T;T	0.33865	1.81;1.39	5.7	2.98	0.34508	.	0.386934	0.31484	N	0.007573	T	0.54062	0.1835	M	0.70275	2.135	0.80722	D	1	D	0.61697	0.99	D	0.72982	0.979	T	0.54450	-0.8292	10	0.72032	D	0.01	0.2091	8.8051	0.34932	0.0:0.7661:0.0:0.2339	.	295	O00472	ELL2_HUMAN	H	295;113	ENSP00000237853:Q295H;ENSP00000423915:Q113H	ENSP00000237853:Q295H	Q	-	3	2	ELL2	95262222	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.689000	0.37700	0.769000	0.33313	0.561000	0.74099	CAG	ELL2	-	NULL	ENSG00000118985		0.403	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL2	HGNC	protein_coding	OTTHUMT00000242846.1	142	0.00	0	C	NM_012081		95236466	95236466	-1	no_errors	ENST00000237853	ensembl	human	known	69_37n	missense	73	20.65	19	SNP	1.000	G
EXPH5	23086	genome.wustl.edu	37	11	108381164	108381164	+	Silent	SNP	C	C	T			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr11:108381164C>T	ENST00000265843.4	-	6	5180	c.5070G>A	c.(5068-5070)caG>caA	p.Q1690Q	EXPH5_ENST00000525344.1_Silent_p.Q1683Q|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000428840.1_Silent_p.Q1614Q|EXPH5_ENST00000443411.1_Silent_p.Q1502Q	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1690					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TGTTAGACTTCTGGTTGCTGA	0.438																																						dbGAP											0													229.0	217.0	221.0					11																	108381164		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5070G>A	11.37:g.108381164C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHM1|Q9Y4D6	Silent	SNP	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.Q1690	ENST00000265843.4	37	c.5070	CCDS8341.1	11																																																																																			EXPH5	-	NULL	ENSG00000110723		0.438	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1	130	0.00	0	C	NM_015065		108381164	108381164	-1	no_errors	ENST00000265843	ensembl	human	known	69_37n	silent	59	13.24	9	SNP	0.485	T
FAM129C	199786	genome.wustl.edu	37	19	17664329	17664329	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr19:17664329C>T	ENST00000335393.4	+	16	2189	c.2051C>T	c.(2050-2052)tCc>tTc	p.S684F	COLGALT1_ENST00000252599.4_5'Flank|FAM129C_ENST00000601861.1_Missense_Mutation_p.S653F|FAM129C_ENST00000449408.2_Missense_Mutation_p.S410F	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	684										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GAGACCGTTTCCTCCCATTCT	0.522																																						dbGAP											0													180.0	164.0	169.0					19																	17664329		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.2051C>T	19.37:g.17664329C>T	ENSP00000335040:p.Ser684Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	smart_Pleckstrin_homology	p.S684F	ENST00000335393.4	37	c.2051	CCDS12362.1	19	.	.	.	.	.	.	.	.	.	.	C	3.297	-0.143767	0.06627	.	.	ENSG00000167483	ENST00000335393;ENST00000449408	T;T	0.28666	1.95;1.6	2.3	0.147	0.14838	.	.	.	.	.	T	0.16041	0.0386	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.24512	-1.0158	9	0.87932	D	0	.	4.3227	0.11025	0.0:0.6519:0.0:0.3481	.	684	Q86XR2	NIBL2_HUMAN	F	684;410	ENSP00000335040:S684F;ENSP00000394929:S410F	ENSP00000335040:S684F	S	+	2	0	FAM129C	17525329	0.046000	0.20272	0.001000	0.08648	0.139000	0.21198	0.866000	0.27954	0.119000	0.18210	0.485000	0.47835	TCC	FAM129C	-	NULL	ENSG00000167483		0.522	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM129C	HGNC	protein_coding	OTTHUMT00000464206.1	153	0.00	0	C	NM_173544		17664329	17664329	+1	no_errors	ENST00000335393	ensembl	human	known	69_37n	missense	83	17.00	17	SNP	0.001	T
FREM3	166752	genome.wustl.edu	37	4	144619575	144619575	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr4:144619575C>T	ENST00000329798.5	-	1	2253	c.2254G>A	c.(2254-2256)Gat>Aat	p.D752N	RP13-578N3.3_ENST00000499587.2_RNA	NM_001168235.1	NP_001161707.1	P0C091	FREM3_HUMAN	FRAS1 related extracellular matrix 3	752					cell adhesion (GO:0007155)|cell communication (GO:0007154)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	8						TGGTTGCCATCTGTGTCAGTC	0.488																																						dbGAP											0													176.0	149.0	157.0					4																	144619575		692	1591	2283	-	-	-	SO:0001583	missense	0			BX091796	CCDS54808.1	4q31.21	2011-06-09			ENSG00000183090	ENSG00000183090			25172	protein-coding gene	gene with protein product		608946				15345741	Standard	NM_001168235		Approved		uc021xsj.1	P0C091	OTTHUMG00000161577	ENST00000329798.5:c.2254G>A	4.37:g.144619575C>T	ENSP00000332886:p.Asp752Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.D752N	ENST00000329798.5	37	c.2254	CCDS54808.1	4	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278490	0.23307	.	.	ENSG00000183090	ENST00000329798	T	0.39997	1.05	3.88	3.03	0.35002	.	0.061939	0.64402	N	0.000009	T	0.53658	0.1810	M	0.80616	2.505	0.50632	D	0.99988	.	.	.	.	.	.	T	0.50558	-0.8814	8	0.24483	T	0.36	-11.3968	10.3252	0.43790	0.0:0.8989:0.0:0.1011	.	.	.	.	N	752	ENSP00000332886:D752N	ENSP00000332886:D752N	D	-	1	0	FREM3	144839025	0.995000	0.38212	0.085000	0.20634	0.216000	0.24613	3.398000	0.52579	0.842000	0.35045	0.561000	0.74099	GAT	FREM3	-	NULL	ENSG00000183090		0.488	FREM3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	FREM3	HGNC	protein_coding	OTTHUMT00000365391.1	106	0.93	1	C	XM_094074		144619575	144619575	-1	no_errors	ENST00000329798	ensembl	human	putative	69_37n	missense	45	28.57	18	SNP	1.000	T
GMPS	8833	genome.wustl.edu	37	3	155623998	155623998	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr3:155623998G>C	ENST00000496455.2	+	5	807	c.472G>C	c.(472-474)Gac>Cac	p.D158H	GMPS_ENST00000476145.1_3'UTR|GMPS_ENST00000295920.7_Missense_Mutation_p.D59H	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	158	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	AGATAGTGTAGACAAAGTAGC	0.323			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	dbGAP		Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	0													176.0	174.0	175.0					3																	155623998		1851	4093	5944	-	-	-	SO:0001583	missense	0			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.472G>C	3.37:g.155623998G>C	ENSP00000419851:p.Asp158His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	pfam_GATASE_1,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N	p.D158H	ENST00000496455.2	37	c.472	CCDS46941.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.326170	0.95708	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	D;D	0.90324	-2.65;-2.65	5.89	5.89	0.94794	Glutamine amidotransferase type 1 (2);GMP synthase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94351	0.8184	M	0.76938	2.355	0.80722	D	1	D;B	0.56287	0.975;0.451	P;B	0.55303	0.773;0.102	D	0.93875	0.7166	10	0.54805	T	0.06	-20.4808	20.2527	0.98410	0.0:0.0:1.0:0.0	.	59;158	F8W720;P49915	.;GUAA_HUMAN	H	158;59;107;158	ENSP00000419851:D158H;ENSP00000295920:D59H	ENSP00000295920:D59H	D	+	1	0	GMPS	157106692	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.306000	0.96204	2.788000	0.95919	0.557000	0.71058	GAC	GMPS	-	pfam_GATASE_1,pfam_Peptidase_C26,tigrfam_GMP_synth_N	ENSG00000163655		0.323	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPS	HGNC	protein_coding	OTTHUMT00000351260.2	201	0.00	0	G			155623998	155623998	+1	no_errors	ENST00000496455	ensembl	human	known	69_37n	missense	135	26.49	49	SNP	1.000	C
HLX	3142	genome.wustl.edu	37	1	221057867	221057867	+	Frame_Shift_Del	DEL	G	G	-	rs562919553		TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr1:221057867delG	ENST00000366903.6	+	4	2789	c.1288delG	c.(1288-1290)ggcfs	p.G431fs	HLX_ENST00000549319.1_Frame_Shift_Del_p.G217fs	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	431	Ser-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		cagcggcggcggcggcaatag	0.642																																						dbGAP											0													21.0	21.0	21.0					1																	221057867		2202	4299	6501	-	-	-	SO:0001589	frameshift_variant	0			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1288delG	1.37:g.221057867delG	ENSP00000355870:p.Gly431fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8A8|Q15988|Q59HE7|Q9NZ75	Frame_Shift_Del	DEL	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.G430fs	ENST00000366903.6	37	c.1288	CCDS1527.1	1																																																																																			HLX	-	NULL	ENSG00000136630		0.642	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLX	HGNC	protein_coding	OTTHUMT00000090902.3	41	0.00	0	G	NM_021958		221057867	221057867	+1	no_errors	ENST00000366903	ensembl	human	known	69_37n	frame_shift_del	34	35.85	19	DEL	0.000	-
HPSE	10855	genome.wustl.edu	37	4	84255926	84255926	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr4:84255926G>T	ENST00000405413.2	-	2	146	c.10C>A	c.(10-12)Cgc>Agc	p.R4S	HPSE_ENST00000513463.1_Missense_Mutation_p.R4S|HPSE_ENST00000311412.5_Missense_Mutation_p.R4S|HPSE_ENST00000512196.1_Missense_Mutation_p.R4S	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	4					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	GGCTTCGAGCGCAGCAGCATC	0.731																																						dbGAP											0													6.0	6.0	6.0					4																	84255926		2051	3991	6042	-	-	-	SO:0001583	missense	0			AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.10C>A	4.37:g.84255926G>T	ENSP00000384262:p.Arg4Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	p.R4S	ENST00000405413.2	37	c.10	CCDS3602.1	4	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294005	0.40594	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.46819	0.9;0.9;0.88;0.86	4.1	1.37	0.22104	.	.	.	.	.	T	0.35711	0.0941	L	0.41236	1.265	0.09310	N	1	B;B;B	0.20671	0.028;0.047;0.005	B;B;B	0.18263	0.009;0.021;0.004	T	0.31724	-0.9933	9	0.72032	D	0.01	.	5.7415	0.18096	0.0948:0.0:0.5638:0.3414	.	4;4;4	E9PCA9;E9PGR1;Q9Y251	.;.;HPSE_HUMAN	S	4	ENSP00000308107:R4S;ENSP00000384262:R4S;ENSP00000423265:R4S;ENSP00000421365:R4S	ENSP00000308107:R4S	R	-	1	0	HPSE	84474950	0.000000	0.05858	0.006000	0.13384	0.323000	0.28346	0.053000	0.14184	0.054000	0.16065	0.313000	0.20887	CGC	HPSE	-	NULL	ENSG00000173083		0.731	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	HPSE	HGNC	protein_coding	OTTHUMT00000252812.2	49	0.00	0	G	NM_006665		84255926	84255926	-1	no_errors	ENST00000311412	ensembl	human	known	69_37n	missense	42	12.50	6	SNP	0.007	T
IFNA2	3440	genome.wustl.edu	37	9	21385235	21385235	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr9:21385235G>T	ENST00000380206.2	-	1	161	c.94C>A	c.(94-96)Ctg>Atg	p.L32M		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	32					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	type I interferon receptor binding (GO:0005132)			breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		CTGCTACCCAGGCTGTGGGTT	0.532																																						dbGAP											0													109.0	104.0	106.0					9																	21385235		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6506.1	9p22	2010-08-24			ENSG00000188379	ENSG00000188379		"""Interferons"""	5423	protein-coding gene	gene with protein product	"""alpha-2a interferon"", ""interferon alpha 2b"", ""interferon alpha A"""	147562				1385305	Standard	NM_000605		Approved	IFNA, IFN-alphaA	uc003zpb.3	P01563	OTTHUMG00000019674	ENST00000380206.2:c.94C>A	9.37:g.21385235G>T	ENSP00000369554:p.Leu32Met	Somatic		WXS	Illumina GAIIx	Phase_IV	H2DF54|H2DF55|P01564|Q14606|Q6DJX8|Q96KI6	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.L32M	ENST00000380206.2	37	c.94	CCDS6506.1	9	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024695	0.35701	.	.	ENSG00000188379	ENST00000380206	T	0.49432	0.78	2.38	1.47	0.22746	.	0.444951	0.19896	N	0.103636	T	0.58163	0.2103	M	0.80982	2.52	0.09310	N	1	B	0.31680	0.335	P	0.47346	0.544	T	0.57213	-0.7850	10	0.72032	D	0.01	.	6.8083	0.23790	0.149:0.0:0.851:0.0	.	32	Q6DJX8	.	M	32	ENSP00000369554:L32M	ENSP00000369554:L32M	L	-	1	2	IFNA2	21375235	0.003000	0.15002	0.105000	0.21289	0.341000	0.28922	0.980000	0.29513	0.569000	0.29329	-0.350000	0.07774	CTG	IFNA2	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core	ENSG00000188379		0.532	IFNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA2	HGNC	protein_coding	OTTHUMT00000051903.1	126	0.00	0	G	NM_000605		21385235	21385235	-1	no_errors	ENST00000380206	ensembl	human	known	69_37n	missense	178	16.82	36	SNP	0.056	T
IFT88	8100	genome.wustl.edu	37	13	21173632	21173632	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr13:21173632G>T	ENST00000319980.6	+	13	1094	c.767G>T	c.(766-768)aGa>aTa	p.R256I	IFT88_ENST00000382778.4_Missense_Mutation_p.R256I|IFT88_ENST00000351808.5_Missense_Mutation_p.R247I|IFT88_ENST00000537103.1_Missense_Mutation_p.R228I	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	256					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TTAAAGCAAAGAAATTATTCC	0.254																																						dbGAP											0													31.0	31.0	31.0					13																	21173632		2195	4282	6477	-	-	-	SO:0001583	missense	0			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.767G>T	13.37:g.21173632G>T	ENSP00000323580:p.Arg256Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R256I	ENST00000319980.6	37	c.767	CCDS31944.1	13	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025952	0.75390	.	.	ENSG00000032742	ENST00000382778;ENST00000389374;ENST00000351808;ENST00000319980;ENST00000537103	D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42	5.29	5.29	0.74685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.107611	0.64402	D	0.000013	D	0.95335	0.8486	M	0.71036	2.16	0.80722	D	1	P;P;D	0.54397	0.941;0.953;0.966	P;P;P	0.54026	0.555;0.74;0.69	D	0.95012	0.8152	10	0.54805	T	0.06	-22.7033	12.2935	0.54831	0.0776:0.0:0.9224:0.0	.	228;88;256	F5H6C2;Q6MZX0;Q13099	.;.;IFT88_HUMAN	I	256;153;247;256;228	ENSP00000372228:R256I;ENSP00000261632:R247I;ENSP00000323580:R256I;ENSP00000437719:R228I	ENSP00000323580:R256I	R	+	2	0	IFT88	20071632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.453000	0.66645	2.466000	0.83321	0.655000	0.94253	AGA	IFT88	-	pfam_TPR-1,pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000032742		0.254	IFT88-002	KNOWN	basic|CCDS	protein_coding	IFT88	HGNC	protein_coding	OTTHUMT00000044075.3	58	0.00	0	G	NM_006531		21173632	21173632	+1	no_errors	ENST00000319980	ensembl	human	known	69_37n	missense	15	28.57	6	SNP	1.000	T
IGSF9B	22997	genome.wustl.edu	37	11	133790744	133790745	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr11:133790744_133790745insG	ENST00000321016.8	-	18	3105_3106	c.2875_2876insC	c.(2875-2877)cggfs	p.R959fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.R959fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	959	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTGGAAGGGCCGGGGGGCAGGG	0.713																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2876dupC	11.37:g.133790750_133790750dupG	ENSP00000317980:p.Arg959fs	Somatic		WXS	Illumina GAIIx	Phase_IV	G5EA26	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R959fs	ENST00000321016.8	37	c.2876_2875		11																																																																																			IGSF9B	-	NULL	ENSG00000080854		0.713	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		31	0.00	0	-	XM_290502		133790744	133790745	-1	no_errors	ENST00000321016	ensembl	human	known	69_37n	frame_shift_ins	15	11.76	2	INS	1.000:1.000	G
IRF8	3394	genome.wustl.edu	37	16	85954813	85954813	+	Silent	SNP	C	C	G			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr16:85954813C>G	ENST00000268638.5	+	9	1628	c.1206C>G	c.(1204-1206)gtC>gtG	p.V402V	IRF8_ENST00000562492.1_Silent_p.V198V	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	402					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CAGACCAGGTCTTCCGGATGT	0.582																																						dbGAP											0													59.0	64.0	62.0					16																	85954813		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.1206C>G	16.37:g.85954813C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV82	Silent	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.V402	ENST00000268638.5	37	c.1206	CCDS10956.1	16																																																																																			IRF8	-	superfamily_SMAD_FHA_domain	ENSG00000140968		0.582	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF8	HGNC	protein_coding	OTTHUMT00000269100.2	63	0.00	0	C	NM_002163		85954813	85954813	+1	no_errors	ENST00000268638	ensembl	human	known	69_37n	silent	32	35.29	18	SNP	1.000	G
SPIDR	23514	genome.wustl.edu	37	8	48614556	48614556	+	Silent	SNP	G	G	T			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr8:48614556G>T	ENST00000297423.4	+	14	2340	c.1956G>T	c.(1954-1956)acG>acT	p.T652T	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Silent_p.T592T|SPIDR_ENST00000541342.1_Silent_p.T582T|SPIDR_ENST00000517693.1_Silent_p.T127T	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	652					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)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											TCTATGCCACGGTGATTTACC	0.448																																						dbGAP											0													112.0	104.0	107.0					8																	48614556		1892	4129	6021	-	-	-	SO:0001819	synonymous_variant	0			AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1956G>T	8.37:g.48614556G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	NULL	p.R334L	ENST00000297423.4	37	c.1001	CCDS43737.1	8	.	.	.	.	.	.	.	.	.	.	g	3.034	-0.198945	0.06219	.	.	ENSG00000164808	ENST00000519401	.	.	.	5.61	0.778	0.18543	.	.	.	.	.	T	0.38558	0.1045	.	.	.	0.34082	D	0.659741	.	.	.	.	.	.	T	0.44298	-0.9337	4	.	.	.	.	4.8748	0.13651	0.6087:0.0:0.2575:0.1338	.	.	.	.	L	334	.	.	R	+	2	0	KIAA0146	48777109	0.462000	0.25791	0.880000	0.34516	0.369000	0.29798	0.131000	0.15870	0.121000	0.18284	-0.124000	0.14976	CGG	KIAA0146	-	NULL	ENSG00000164808		0.448	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0146	HGNC	protein_coding	OTTHUMT00000377611.1	183	0.00	0	G	NM_001080394		48614556	48614556	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000519401	ensembl	human	putative	69_37n	missense	79	23.30	24	SNP	0.422	T
MGMT	4255	genome.wustl.edu	37	10	131565072	131565072	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr10:131565072C>A	ENST00000306010.7	+	5	560	c.528C>A	c.(526-528)tgC>tgA	p.C176*	RP11-109A6.3_ENST00000428273.1_lincRNA	NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	145					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	TCATCCCGTGCCACAGAGTGG	0.632								Direct reversal of damage																														dbGAP											0													35.0	33.0	34.0					10																	131565072		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.528C>A	10.37:g.131565072C>A	ENSP00000302111:p.Cys176*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VY78	Nonsense_Mutation	SNP	pfam_MethylDNA_cys_MeTrfase_DNA-bd,pfam_MethylG_MeTrfase,superfamily_MethylDNA_cys_MeTrfase_DNA-bd,tigrfam_MethylDNA_cys_MeTrfase_DNA-bd	p.C176*	ENST00000306010.7	37	c.528	CCDS7660.2	10	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669879	0.29693	.	.	ENSG00000170430	ENST00000306010	.	.	.	5.06	0.0525	0.14302	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.493	0.38971	0.0:0.651:0.0:0.349	.	.	.	.	X	176	.	ENSP00000302111:C176X	C	+	3	2	MGMT	131455062	0.997000	0.39634	0.858000	0.33744	0.089000	0.18198	0.465000	0.22004	-0.035000	0.13691	-0.219000	0.12488	TGC	MGMT	-	pfam_MethylDNA_cys_MeTrfase_DNA-bd,superfamily_MethylDNA_cys_MeTrfase_DNA-bd,tigrfam_MethylDNA_cys_MeTrfase_DNA-bd	ENSG00000170430		0.632	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGMT	HGNC	protein_coding	OTTHUMT00000051009.3	8	0.00	0	C	NM_002412		131565072	131565072	+1	no_errors	ENST00000306010	ensembl	human	known	69_37n	nonsense	13	27.78	5	SNP	1.000	A
OR4C12	283093	genome.wustl.edu	37	11	50003441	50003441	+	Silent	SNP	C	C	T			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr11:50003441C>T	ENST00000335238.4	-	1	630	c.597G>A	c.(595-597)gtG>gtA	p.V199V		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ACCCACTGTTCACAGCAACAA	0.413																																						dbGAP											0													100.0	99.0	99.0					11																	50003441		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.597G>A	11.37:g.50003441C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNF0|Q6IF49	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V199	ENST00000335238.4	37	c.597	CCDS31496.1	11																																																																																			OR4C12	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000221954		0.413	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C12	HGNC	protein_coding	OTTHUMT00000391104.1	202	0.00	0	C	NM_001005270		50003441	50003441	-1	no_errors	ENST00000335238	ensembl	human	known	69_37n	silent	111	28.39	44	SNP	1.000	T
TENM4	26011	genome.wustl.edu	37	11	78399254	78399254	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr11:78399254C>T	ENST00000278550.7	-	29	5567	c.5105G>A	c.(5104-5106)cGc>cAc	p.R1702H		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1702					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										ATTTGTCAGGCGGCCAAAGCT	0.507																																						dbGAP											0													180.0	181.0	181.0					11																	78399254		2057	4190	6247	-	-	-	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5105G>A	11.37:g.78399254C>T	ENSP00000278550:p.Arg1702His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R1702H	ENST00000278550.7	37	c.5105	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627735	0.87560	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.93366	-3.21;0.95	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.93242	0.7847	N	0.16903	0.455	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.92524	0.6027	9	.	.	.	.	18.2059	0.89854	0.0:1.0:0.0:0.0	.	1702	Q6N022	TEN4_HUMAN	H	1702;166	ENSP00000278550:R1702H;ENSP00000431711:R166H	.	R	-	2	0	ODZ4	78076902	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.876000	0.69667	2.525000	0.85131	0.655000	0.94253	CGC	ODZ4	-	tigrfam_YD	ENSG00000149256		0.507	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ4	HGNC	protein_coding	OTTHUMT00000391406.2	112	0.00	0	C			78399254	78399254	-1	no_errors	ENST00000278550	ensembl	human	known	69_37n	missense	58	32.56	28	SNP	1.000	T
PPP1R9A	55607	genome.wustl.edu	37	7	94855425	94855425	+	Silent	SNP	A	A	G			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr7:94855425A>G	ENST00000433881.1	+	7	2575	c.2043A>G	c.(2041-2043)aaA>aaG	p.K681K	PPP1R9A_ENST00000456331.2_Silent_p.K681K|PPP1R9A_ENST00000433360.1_Silent_p.K703K|PPP1R9A_ENST00000289495.5_Silent_p.K681K|PPP1R9A_ENST00000424654.1_Silent_p.K681K|PPP1R9A_ENST00000340694.4_Silent_p.K681K			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	681	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACAAGTTCAAAGAGGTATGCC	0.383										HNSCC(28;0.073)																												dbGAP											0													104.0	82.0	90.0					7																	94855425		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2043A>G	7.37:g.94855425A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.K681	ENST00000433881.1	37	c.2043	CCDS34683.1	7																																																																																			PPP1R9A	-	NULL	ENSG00000158528		0.383	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	124	0.00	0	A	NM_001166160		94855425	94855425	+1	no_errors	ENST00000289495	ensembl	human	known	69_37n	silent	86	20.37	22	SNP	1.000	G
PRDM14	63978	genome.wustl.edu	37	8	70971077	70971078	+	Splice_Site	INS	-	-	G			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr8:70971077_70971078insG	ENST00000276594.2	-	6	1385	c.1184_1184insC	c.(1183-1185)gag>gCag	p.E395fs		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	395					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TTCTGCAGACTCTGTCAAACAC	0.391																																					NSCLC(129;99 1813 5906 40656 46114)	dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1184-1->C	8.37:g.70971077_70971078insG		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UX9	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.E395fs	ENST00000276594.2	37	c.1184_1185	CCDS6206.1	8																																																																																			PRDM14	-	NULL	ENSG00000147596		0.391	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM14	HGNC	protein_coding	OTTHUMT00000318505.1	130	0.00	0	-		Frame_Shift_Ins	70971077	70971078	-1	no_errors	ENST00000276594	ensembl	human	known	69_37n	frame_shift_ins	96	62.93	163	INS	1.000:1.000	G
PRSS35	167681	genome.wustl.edu	37	6	84234145	84234145	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr6:84234145G>A	ENST00000369700.3	+	2	1162	c.985G>A	c.(985-987)Gac>Aac	p.D329N	PRSS35_ENST00000536636.1_Missense_Mutation_p.D329N	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	329	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CAGTGTGTCCGACGAATCCAA	0.483																																						dbGAP											0													123.0	123.0	123.0					6																	84234145		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.985G>A	6.37:g.84234145G>A	ENSP00000358714:p.Asp329Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7B3|Q9BQP6	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.D329N	ENST00000369700.3	37	c.985	CCDS4999.1	6	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039989	0.75732	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.41758	0.99;0.99	5.91	5.02	0.67125	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.364580	0.30630	N	0.009210	T	0.23289	0.0563	L	0.44542	1.39	0.46336	D	0.998995	P	0.46020	0.871	B	0.36030	0.216	T	0.12372	-1.0550	10	0.87932	D	0	-13.8878	16.9709	0.86298	0.0:0.1277:0.8723:0.0	.	329	Q8N3Z0	PRS35_HUMAN	N	329	ENSP00000440870:D329N;ENSP00000358714:D329N	ENSP00000358714:D329N	D	+	1	0	PRSS35	84290864	1.000000	0.71417	0.034000	0.17996	0.964000	0.63967	9.476000	0.97823	1.469000	0.48083	0.462000	0.41574	GAC	PRSS35	-	superfamily_Pept_cys/ser_Trypsin-like	ENSG00000146250		0.483	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS35	HGNC	protein_coding	OTTHUMT00000041352.1	127	0.00	0	G	NM_153362		84234145	84234145	+1	no_errors	ENST00000369700	ensembl	human	known	69_37n	missense	68	29.17	28	SNP	0.998	A
RAB42	115273	genome.wustl.edu	37	1	28920546	28920547	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr1:28920546_28920547insG	ENST00000373826.3	+	2	541_542	c.235_236insG	c.(235-237)tggfs	p.W79fs	RAB42_ENST00000465518.1_3'UTR|TAF12_ENST00000471683.1_Intron	NM_152304.1	NP_689517.1	Q8N4Z0	RAB42_HUMAN	RAB42, member RAS oncogene family	79					small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGAGGGCTGGGGGGGTGTC	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC033175	CCDS325.1	1p35.3	2014-02-12	2006-04-28		ENSG00000188060	ENSG00000188060		"""RAB, member RAS oncogene"""	28702	protein-coding gene	gene with protein product			"""RAB42, member RAS homolog family"""				Standard	NM_152304		Approved	MGC45806	uc001bqv.3	Q8N4Z0	OTTHUMG00000003656	ENST00000373826.3:c.242dupG	1.37:g.28920553_28920553dupG	ENSP00000362932:p.Trp79fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5G2	Frame_Shift_Ins	INS	pfam_Small_GTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase	p.V82fs	ENST00000373826.3	37	c.235_236	CCDS325.1	1																																																																																			RAB42	-	NULL	ENSG00000188060		0.584	RAB42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB42	HGNC	protein_coding	OTTHUMT00000010371.1	95	0.00	0	-	NM_152304		28920546	28920547	+1	no_errors	ENST00000373826	ensembl	human	known	69_37n	frame_shift_ins	63	10.00	7	INS	1.000:1.000	G
PRUNE	58497	genome.wustl.edu	37	1	150999720	150999720	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr1:150999720G>A	ENST00000271620.3	+	6	847	c.691G>A	c.(691-693)Gag>Aag	p.E231K	PRUNE_ENST00000368936.1_Missense_Mutation_p.E49K|PRUNE_ENST00000368935.1_5'UTR|PRUNE_ENST00000368937.1_Missense_Mutation_p.E49K|PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000368934.1_Missense_Mutation_p.E49K|PRUNE_ENST00000271619.8_Missense_Mutation_p.E72K	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	231						cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACTGACCACTGAGCAGATGCT	0.488																																						dbGAP											0													125.0	107.0	113.0					1																	150999720		2203	4300	6503	-	-	-	SO:0001583	missense	0			U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"""prune homolog (Drosophila)"""			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.691G>A	1.37:g.150999720G>A	ENSP00000271620:p.Glu231Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	Missense_Mutation	SNP	pfam_DHHA2,pfam_Pesterase_RecJ	p.E231K	ENST00000271620.3	37	c.691	CCDS977.1	1	.	.	.	.	.	.	.	.	.	.	-	21.3	4.125551	0.77436	.	.	ENSG00000143363	ENST00000450884;ENST00000271620;ENST00000302413;ENST00000271619;ENST00000368937;ENST00000431193;ENST00000368936;ENST00000368934	T;T;T;T;T;T	0.33654	1.48;1.42;1.44;1.42;1.4;1.44	4.56	4.56	0.56223	DHHA2 (1);	0.000000	0.85682	D	0.000000	T	0.52419	0.1733	M	0.81341	2.54	0.50171	D	0.999852	D;D	0.67145	0.995;0.996	D;D	0.67231	0.95;0.946	T	0.54456	-0.8291	10	0.46703	T	0.11	.	15.2101	0.73214	0.0:0.0:1.0:0.0	.	72;231	E9PCU1;Q86TP1	.;PRUNE_HUMAN	K	49;231;164;72;49;49;49;49	ENSP00000271620:E231K;ENSP00000271619:E72K;ENSP00000357933:E49K;ENSP00000392632:E49K;ENSP00000357932:E49K;ENSP00000357930:E49K	ENSP00000271619:E72K	E	+	1	0	PRUNE	149266344	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.725000	0.84808	2.526000	0.85167	0.457000	0.33378	GAG	PRUNE	-	pfam_DHHA2	ENSG00000143363		0.488	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRUNE	HGNC	protein_coding	OTTHUMT00000084885.1	218	0.00	0	G	NM_021222		150999720	150999720	+1	no_errors	ENST00000271620	ensembl	human	known	69_37n	missense	187	29.70	79	SNP	1.000	A
SAP25	100316904	genome.wustl.edu	37	7	100170020	100170020	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr7:100170020delC	ENST00000538735.1	-	6	667	c.490delG	c.(490-492)gttfs	p.V164fs		NM_001168682.1	NP_001162153.1	Q8TEE9	SAP25_HUMAN	Sin3A-associated protein, 25kDa	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GGGGGGCCAACCGCGGAGGAG	0.687																																						dbGAP											0													24.0	29.0	27.0					7																	100170020		692	1590	2282	-	-	-	SO:0001589	frameshift_variant	0				CCDS55137.1	7q22.1	2011-05-19			ENSG00000205307	ENSG00000205307			41908	protein-coding gene	gene with protein product						16449650	Standard	NM_001168682		Approved	FLJ00248	uc022aip.1	Q8TEE9		ENST00000538735.1:c.490delG	7.37:g.100170020delC	ENSP00000442339:p.Val164fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	NULL	p.V164fs	ENST00000538735.1	37	c.490	CCDS55137.1	7																																																																																			SAP25	-	NULL	ENSG00000205307		0.687	SAP25-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SAP25	HGNC	protein_coding		27	0.00	0	C			100170020	100170020	-1	no_errors	ENST00000538735	ensembl	human	known	69_37n	frame_shift_del	12	57.14	16	DEL	0.000	-
SDK2	54549	genome.wustl.edu	37	17	71375612	71375613	+	Frame_Shift_Ins	INS	-	-	G	rs141987716|rs144878236	byFrequency	TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr17:71375612_71375613insG	ENST00000392650.3	-	35	4838_4839	c.4838_4839insC	c.(4837-4839)ccgfs	p.P1613fs	SDK2_ENST00000388726.3_Frame_Shift_Ins_p.P1594fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1613	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGACCTCCTGCGGGGGGCTGGA	0.653																																						dbGAP											0										4,4260		0,4,2128						-9.2	0.1			38	4,8248		0,4,4122	no	frameshift	SDK2	NM_001144952.1		0,8,6250	A1A1,A1R,RR		0.0485,0.0938,0.0639				8,12508				-	-	-	SO:0001589	frameshift_variant	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4839dupC	17.37:g.71375618_71375618dupG	ENSP00000376421:p.Pro1613fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Frame_Shift_Ins	INS	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q1614fs	ENST00000392650.3	37	c.4839_4838	CCDS45769.1	17																																																																																			SDK2	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000069188		0.653	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	41	0.00	0	-	NM_019064		71375612	71375613	-1	no_errors	ENST00000392650	ensembl	human	known	69_37n	frame_shift_ins	23	14.81	4	INS	0.015:1.000	G
SLC28A3	64078	genome.wustl.edu	37	9	86909149	86909149	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr9:86909149C>T	ENST00000376238.4	-	9	952	c.903G>A	c.(901-903)atG>atA	p.M301I	SLC28A3_ENST00000537648.1_Missense_Mutation_p.M232I	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	301					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	GGTAGTACAGCATGGACATCA	0.498																																					Ovarian(106;425 1539 34835 42413 43572)	dbGAP											0													171.0	155.0	160.0					9																	86909149		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.903G>A	9.37:g.86909149C>T	ENSP00000365413:p.Met301Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.M301I	ENST00000376238.4	37	c.903	CCDS6670.1	9	.	.	.	.	.	.	.	.	.	.	C	5.194	0.221332	0.09863	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.24908	1.83;1.83	6.03	6.03	0.97812	Nucleoside recognition (1);	0.222463	0.53938	D	0.000049	T	0.14313	0.0346	N	0.10707	0.03	0.43924	D	0.996578	B;B	0.13145	0.004;0.007	B;B	0.20184	0.019;0.028	T	0.15122	-1.0448	10	0.10111	T	0.7	-13.8902	16.1033	0.81203	0.1343:0.8657:0.0:0.0	.	232;301	B4E2S8;Q9HAS3	.;S28A3_HUMAN	I	301;232	ENSP00000365413:M301I;ENSP00000446438:M232I	ENSP00000365413:M301I	M	-	3	0	SLC28A3	86098969	1.000000	0.71417	0.998000	0.56505	0.770000	0.43624	2.113000	0.41902	2.868000	0.98415	0.557000	0.71058	ATG	SLC28A3	-	pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	ENSG00000197506		0.498	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC28A3	HGNC	protein_coding	OTTHUMT00000052874.1	127	0.00	0	C	NM_022127		86909149	86909149	-1	no_errors	ENST00000376238	ensembl	human	known	69_37n	missense	101	12.17	14	SNP	1.000	T
SLC4A9	83697	genome.wustl.edu	37	5	139743671	139743672	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr5:139743671_139743672insT	ENST00000230993.6	+	10	1394_1395	c.1359_1360insT	c.(1360-1362)gctfs	p.A454fs	SLC4A9_ENST00000507527.1_Frame_Shift_Ins_p.A454fs|SLC4A9_ENST00000506757.2_Frame_Shift_Ins_p.A430fs|SLC4A9_ENST00000506545.1_Frame_Shift_Ins_p.A430fs|SLC4A9_ENST00000432095.2_Frame_Shift_Ins_p.A419fs	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	454	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACAGCAGTGGCTGGAGCTGC	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	Exception_encountered	5.37:g.139743671_139743672insT	ENSP00000230993:p.Ala454fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Frame_Shift_Ins	INS	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.A453fs	ENST00000230993.6	37	c.1359_1360	CCDS58973.1	5																																																																																			SLC4A9	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000113073		0.609	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	SLC4A9	HGNC	protein_coding	OTTHUMT00000372823.1	51	0.00	0	-	NM_031467		139743671	139743672	+1	no_errors	ENST00000230993	ensembl	human	known	69_37n	frame_shift_ins	27	46.00	23	INS	0.004:0.006	T
SLTM	79811	genome.wustl.edu	37	15	59205704	59205704	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr15:59205704T>A	ENST00000380516.2	-	4	594	c.507A>T	c.(505-507)gaA>gaT	p.E169D	SLTM_ENST00000536328.1_5'UTR|SLTM_ENST00000557950.1_5'UTR	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	169	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGACCTGACTTTCGATGTCCT	0.313																																						dbGAP											0													143.0	135.0	138.0					15																	59205704		2192	4291	6483	-	-	-	SO:0001583	missense	0			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.507A>T	15.37:g.59205704T>A	ENSP00000369887:p.Glu169Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Nonsense_Mutation	SNP	NULL	p.K131*	ENST00000380516.2	37	c.391	CCDS10168.2	15	.	.	.	.	.	.	.	.	.	.	T	14.53	2.563205	0.45694	.	.	ENSG00000137776	ENST00000380516;ENST00000249736	T;T	0.14516	2.65;2.5	5.9	4.77	0.60923	.	0.340529	0.24925	N	0.034518	T	0.10465	0.0256	L	0.27053	0.805	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09773	-1.0659	10	0.36615	T	0.2	.	11.1694	0.48563	0.0:0.0:0.2942:0.7058	.	169	Q9NWH9	SLTM_HUMAN	D	169	ENSP00000369887:E169D;ENSP00000249736:E169D	ENSP00000249736:E169D	E	-	3	2	SLTM	56992996	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.269000	0.51592	1.035000	0.39972	0.529000	0.55759	GAA	SLTM	-	NULL	ENSG00000137776		0.313	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLTM	HGNC	protein_coding	OTTHUMT00000157124.1	225	0.00	0	T	NM_024755		59205704	59205704	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000558756	ensembl	human	known	69_37n	nonsense	71	56.44	92	SNP	1.000	A
SPTA1	6708	genome.wustl.edu	37	1	158589080	158589080	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr1:158589080C>A	ENST00000368147.4	-	45	6642	c.6462G>T	c.(6460-6462)aaG>aaT	p.K2154N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2154					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTCAAAGTTCTTGACCTGTC	0.483																																						dbGAP											0													290.0	281.0	284.0					1																	158589080		2008	4178	6186	-	-	-	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6462G>T	1.37:g.158589080C>A	ENSP00000357129:p.Lys2154Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.K2154N	ENST00000368147.4	37	c.6462	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688280	0.68271	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.55052	0.71;0.54	5.31	4.39	0.52855	.	.	.	.	.	T	0.36524	0.0970	M	0.72118	2.19	0.39585	D	0.969493	B	0.29716	0.255	B	0.32677	0.15	T	0.42531	-0.9446	9	0.49607	T	0.09	.	8.5073	0.33195	0.156:0.7642:0.0:0.0798	.	2154	P02549	SPTA1_HUMAN	N	2154;2151	ENSP00000357130:K2154N;ENSP00000357129:K2151N	ENSP00000357129:K2151N	K	-	3	2	SPTA1	156855704	0.996000	0.38824	1.000000	0.80357	0.984000	0.73092	0.418000	0.21230	1.461000	0.47929	0.591000	0.81541	AAG	SPTA1	-	NULL	ENSG00000163554		0.483	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	225	0.00	0	C	NM_003126		158589080	158589080	-1	no_errors	ENST00000368148	ensembl	human	known	69_37n	missense	300	51.14	314	SNP	1.000	A
SYDE1	85360	genome.wustl.edu	37	19	15222237	15222237	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr19:15222237C>G	ENST00000342784.2	+	5	1435	c.1404C>G	c.(1402-1404)atC>atG	p.I468M	SYDE1_ENST00000600252.1_Missense_Mutation_p.I125M|SYDE1_ENST00000600440.1_Missense_Mutation_p.I401M	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	468	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						ACCCCGATATCAATGTCATCA	0.587																																						dbGAP											0													155.0	128.0	137.0					19																	15222237		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1404C>G	19.37:g.15222237C>G	ENSP00000341489:p.Ile468Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.I468M	ENST00000342784.2	37	c.1404	CCDS12324.1	19	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735233	0.69189	.	.	ENSG00000105137	ENST00000342784	T	0.48201	0.82	5.3	5.3	0.74995	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.061139	0.64402	D	0.000006	T	0.70902	0.3277	M	0.80616	2.505	0.50171	D	0.999855	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.981;0.997	T	0.75286	-0.3371	10	0.87932	D	0	.	16.4457	0.83928	0.0:1.0:0.0:0.0	.	401;401;468	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	M	468	ENSP00000341489:I468M	ENSP00000341489:I468M	I	+	3	3	SYDE1	15083237	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	2.972000	0.49256	2.488000	0.83962	0.561000	0.74099	ATC	SYDE1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000105137		0.587	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE1	HGNC	protein_coding	OTTHUMT00000465666.1	208	0.00	0	C	NM_033025		15222237	15222237	+1	no_errors	ENST00000342784	ensembl	human	known	69_37n	missense	78	27.10	29	SNP	1.000	G
SZT2	23334	genome.wustl.edu	37	1	43908878	43908878	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr1:43908878G>C	ENST00000562955.1	+	59	8268	c.8268G>C	c.(8266-8268)aaG>aaC	p.K2756N	SZT2_ENST00000372442.1_Missense_Mutation_p.K1914N	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2813					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCCAGATGAAGATGGAAAACC	0.542																																						dbGAP											0													169.0	160.0	163.0					1																	43908878		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8268G>C	1.37:g.43908878G>C	ENSP00000457168:p.Lys2756Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.K2756N	ENST00000562955.1	37	c.8268	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729723	0.48833	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.67	4.76	0.60689	.	0.090102	0.85682	D	0.000000	T	0.65037	0.2653	L	0.43152	1.355	0.31781	N	0.630912	D	0.89917	1.0	D	0.91635	0.999	T	0.71666	-0.4524	9	0.59425	D	0.04	.	14.3984	0.67027	0.0707:0.0:0.9292:0.0	.	2756	Q5T011-5	.	N	1914	.	ENSP00000361519:K1914N	K	+	3	2	SZT2	43681465	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.816000	0.62642	1.413000	0.46997	0.561000	0.74099	AAG	SZT2	-	NULL	ENSG00000198198		0.542	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	298	0.00	0	G	NM_015284		43908878	43908878	+1	no_errors	ENST00000562955	ensembl	human	known	69_37n	missense	177	18.43	40	SNP	1.000	C
THBS4	7060	genome.wustl.edu	37	5	79366973	79366973	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr5:79366973G>A	ENST00000350881.2	+	13	1880	c.1690G>A	c.(1690-1692)Gat>Aat	p.D564N	CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.D473N	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	564					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TGGAAGAGGAGATGCCTGTGA	0.423																																						dbGAP											0													291.0	283.0	286.0					5																	79366973		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1690G>A	5.37:g.79366973G>A	ENSP00000339730:p.Asp564Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R909|Q86TG2	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.D564N	ENST00000350881.2	37	c.1690	CCDS4049.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.421805	0.96111	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.99919	-8.0;-8.0	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.99921	0.9963	M	0.85710	2.77	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.96202	0.9146	10	0.52906	T	0.07	-26.9645	18.9795	0.92749	0.0:0.0:1.0:0.0	.	564	P35443	TSP4_HUMAN	N	564;473	ENSP00000339730:D564N;ENSP00000422298:D473N	ENSP00000339730:D564N	D	+	1	0	THBS4	79402729	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	9.559000	0.98135	2.719000	0.93026	0.655000	0.94253	GAT	THBS4	-	pfam_Thrombospondin_3-like_rpt	ENSG00000113296		0.423	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS4	HGNC	protein_coding	OTTHUMT00000226977.1	431	0.00	0	G			79366973	79366973	+1	no_errors	ENST00000350881	ensembl	human	known	69_37n	missense	240	18.58	55	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7578239	7578239	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr17:7578239delC	ENST00000269305.4	-	6	799	c.610delG	c.(610-612)gagfs	p.E204fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.E204fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.E204fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.E204fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.E204fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E204fs	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	204	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|VE -> LV (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.E204*(33)|p.0?(8)|p.?(5)|p.E72*(3)|p.E111*(3)|p.E204K(2)|p.E204fs*43(2)|p.E204Q(1)|p.E204fs*4(1)|p.V203_E204>V*(1)|p.V203_E204>LV(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(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)	TCCAAATACTCCACACGCAAA	0.542		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)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	63	Substitution - Nonsense(39)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Substitution - Missense(3)|Complex - compound substitution(2)|Deletion - In frame(1)	lung(15)|haematopoietic_and_lymphoid_tissue(7)|large_intestine(6)|upper_aerodigestive_tract(5)|biliary_tract(5)|NS(5)|breast(4)|bone(4)|oesophagus(3)|ovary(3)|central_nervous_system(2)|stomach(1)|liver(1)|urinary_tract(1)|pancreas(1)											133.0	118.0	123.0					17																	7578239		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	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.610delG	17.37:g.7578239delC	ENSP00000269305:p.Glu204fs	Somatic		WXS	Illumina GAIIx	Phase_IV	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	Frame_Shift_Del	DEL	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.E204fs	ENST00000269305.4	37	c.610	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	443	0.00	0	C	NM_000546		7578239	7578239	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_del	106	47.00	94	DEL	0.045	-
TRIQK	286144	genome.wustl.edu	37	8	93929213	93929213	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr8:93929213C>T	ENST00000521988.1	-	3	323	c.5G>A	c.(4-6)gGt>gAt	p.G2D	TRIQK_ENST00000524037.1_Missense_Mutation_p.G2D|TRIQK_ENST00000520430.1_Missense_Mutation_p.G2D|TRIQK_ENST00000519069.1_Missense_Mutation_p.G2D|TRIQK_ENST00000524107.1_Missense_Mutation_p.G2D|TRIQK_ENST00000537541.1_Missense_Mutation_p.G2D|TRIQK_ENST00000518748.1_Missense_Mutation_p.G2D|TRIQK_ENST00000517540.1_Intron|TRIQK_ENST00000520686.1_Missense_Mutation_p.G2D|TRIQK_ENST00000521617.1_Missense_Mutation_p.G2D|CTD-3239E11.2_ENST00000523197.1_RNA|TRIQK_ENST00000519969.1_Missense_Mutation_p.G2D|TRIQK_ENST00000378861.5_Missense_Mutation_p.G2D|CTD-3239E11.2_ENST00000521203.1_RNA|TRIQK_ENST00000523580.1_Missense_Mutation_p.G2D|TRIQK_ENST00000517858.1_Missense_Mutation_p.G2D	NM_001171797.1	NP_001165268.1	Q629K1	TRIQK_HUMAN	triple QxxK/R motif containing	2						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				endometrium(3)	3						ATCTTTTCTACCCATCTTTGA	0.284																																						dbGAP											0													152.0	125.0	133.0					8																	93929213		692	1583	2275	-	-	-	SO:0001583	missense	0			AK096398, BC110326, BC031029, BC065838	CCDS55261.1	8q22.1	2012-04-18	2012-04-18	2012-04-18	ENSG00000205133	ENSG00000205133			27828	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 83"""	C8orf83		18828657	Standard	NM_001171796		Approved	DKFZp779L1068, PRO0845, LOC286144	uc022aya.1	Q629K1	OTTHUMG00000164162	ENST00000521988.1:c.5G>A	8.37:g.93929213C>T	ENSP00000429517:p.Gly2Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.G2D	ENST00000521988.1	37	c.5	CCDS55261.1	8	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635908	0.67130	.	.	ENSG00000205133	ENST00000521988;ENST00000537541;ENST00000518748;ENST00000523580;ENST00000520686;ENST00000520430;ENST00000517858;ENST00000378861;ENST00000524037;ENST00000521617;ENST00000519069;ENST00000524107;ENST00000519969;ENST00000517751;ENST00000522925;ENST00000522903	.	.	.	5.92	5.92	0.95590	.	0.089857	0.48767	D	0.000171	D	0.83968	0.5369	.	.	.	0.51482	D	0.999927	D	0.89917	1.0	D	0.91635	0.999	D	0.84635	0.0692	8	0.72032	D	0.01	-18.2185	20.3138	0.98647	0.0:1.0:0.0:0.0	.	2	Q629K1	TRIQK_HUMAN	D	2	.	ENSP00000368138:G2D	G	-	2	0	C8orf83	93998389	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.526000	0.67116	2.814000	0.96858	0.585000	0.79938	GGT	TRIQK	-	NULL	ENSG00000205133		0.284	TRIQK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIQK	HGNC	protein_coding	OTTHUMT00000377523.3	148	0.00	0	C	NM_001171795		93929213	93929213	-1	no_errors	ENST00000378861	ensembl	human	known	69_37n	missense	158	14.97	28	SNP	1.000	T
TTYH1	57348	genome.wustl.edu	37	19	54946801	54946801	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr19:54946801C>T	ENST00000376530.3	+	11	1308	c.1205C>T	c.(1204-1206)tCt>tTt	p.S402F	TTYH1_ENST00000376531.3_Missense_Mutation_p.S402F|TTYH1_ENST00000489425.1_3'UTR|CTD-2587H19.2_ENST00000596631.1_RNA|TTYH1_ENST00000301194.4_Missense_Mutation_p.S402F|CTD-2587H19.3_ENST00000597355.1_lincRNA|AC008746.3_ENST00000457113.1_RNA|TTYH1_ENST00000391739.3_Silent_p.V432V	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	402					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TCCCTGCTGTCTGCAGGAGCG	0.682																																						dbGAP											0													41.0	30.0	34.0					19																	54946801		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.1205C>T	19.37:g.54946801C>T	ENSP00000365713:p.Ser402Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	pfam_Tweety	p.S402F	ENST00000376530.3	37	c.1205	CCDS12893.1	19	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842770	0.51057	.	.	ENSG00000167614	ENST00000301194;ENST00000376530;ENST00000376531	T;T;T	0.12984	2.63;2.63;2.63	3.94	2.8	0.32819	.	0.069287	0.64402	D	0.000015	T	0.30792	0.0776	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.83275	0.988;0.983;0.996	T	0.03750	-1.1007	10	0.59425	D	0.04	-12.6263	10.9031	0.47065	0.0:0.8074:0.1926:0.0	.	402;402;402	Q9H313-2;Q9H313-3;Q9H313	.;.;TTYH1_HUMAN	F	402	ENSP00000301194:S402F;ENSP00000365713:S402F;ENSP00000365714:S402F	ENSP00000301194:S402F	S	+	2	0	TTYH1	59638613	0.996000	0.38824	0.888000	0.34837	0.444000	0.32077	3.748000	0.55142	1.924000	0.55735	0.561000	0.74099	TCT	TTYH1	-	pfam_Tweety	ENSG00000167614		0.682	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TTYH1	HGNC	protein_coding	OTTHUMT00000140498.1	21	0.00	0	C			54946801	54946801	+1	no_errors	ENST00000376531	ensembl	human	known	69_37n	missense	5	50.00	5	SNP	0.993	T
YY1AP1	55249	genome.wustl.edu	37	1	155646348	155646348	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr1:155646348C>G	ENST00000295566.4	-	5	536	c.513G>C	c.(511-513)caG>caC	p.Q171H	YY1AP1_ENST00000311573.5_Missense_Mutation_p.Q94H|YY1AP1_ENST00000359205.5_Missense_Mutation_p.Q94H|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000355499.4_Missense_Mutation_p.Q105H|YY1AP1_ENST00000404643.1_Missense_Mutation_p.Q105H|YY1AP1_ENST00000347088.5_Missense_Mutation_p.Q105H|YY1AP1_ENST00000535662.1_5'UTR|YY1AP1_ENST00000368330.2_Missense_Mutation_p.Q105H|YY1AP1_ENST00000405763.3_Missense_Mutation_p.Q243H|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000361831.5_Missense_Mutation_p.Q94H|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368340.5_Missense_Mutation_p.Q243H|YY1AP1_ENST00000407221.1_Missense_Mutation_p.Q94H|YY1AP1_ENST00000438245.2_Missense_Mutation_p.Q105H|YY1AP1_ENST00000368339.5_Missense_Mutation_p.Q243H	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	171					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q243H(1)|p.Q171H(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CCTGCTGCATCTGCTGCTGGA	0.423																																						dbGAP											2	Substitution - Missense(2)	lung(2)											207.0	179.0	189.0					1																	155646348		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.513G>C	1.37:g.155646348C>G	ENSP00000295566:p.Gln171His	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	NULL	p.Q243H	ENST00000295566.4	37	c.729	CCDS1115.1	1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035147	0.54896	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000405763;ENST00000438245;ENST00000443231;ENST00000454523	T;T;T;T;T;T;T;T;T;T;T	0.76448	-0.99;-1.02;-0.05;-1.02;-0.99;0.93;0.94;-1.02;-0.05;0.96;-0.95	3.78	3.78	0.43462	.	0.000000	0.85682	D	0.000000	D	0.83519	0.5272	M	0.77313	2.365	0.42605	D	0.993297	D;D;D;D;D;P;D;D	0.89917	0.999;0.999;0.997;0.998;1.0;0.914;1.0;0.999	D;D;D;D;D;P;D;D	0.91635	0.999;0.999;0.993;0.996;0.999;0.763;0.999;0.998	D	0.85651	0.1282	10	0.87932	D	0	.	10.5955	0.45336	0.0:0.9007:0.0:0.0993	.	105;171;243;105;243;171;105;243	B4DZQ4;B4DQQ0;B4DMP2;Q9H869-4;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;.;YYAP1_HUMAN;.;.	H	94;105;94;105;94;243;171;105;94;105;243;243;105;94;105	ENSP00000352134:Q94H;ENSP00000347686:Q105H;ENSP00000311138:Q94H;ENSP00000316079:Q105H;ENSP00000355298:Q94H;ENSP00000357324:Q243H;ENSP00000295566:Q171H;ENSP00000357314:Q105H;ENSP00000385791:Q94H;ENSP00000385390:Q105H;ENSP00000357323:Q243H	ENSP00000295566:Q171H	Q	-	3	2	YY1AP1	153912972	0.997000	0.39634	1.000000	0.80357	0.918000	0.54935	0.176000	0.16782	1.933000	0.56026	0.455000	0.32223	CAG	YY1AP1	-	NULL	ENSG00000163374		0.423	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	YY1AP1	HGNC	protein_coding	OTTHUMT00000086027.1	198	0.00	0	C	NM_139118		155646348	155646348	-1	no_errors	ENST00000368339	ensembl	human	known	69_37n	missense	276	18.10	61	SNP	1.000	G
ZCCHC2	54877	genome.wustl.edu	37	18	60242018	60242018	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr18:60242018C>G	ENST00000269499.5	+	13	3122	c.2704C>G	c.(2704-2706)Ctt>Gtt	p.L902V	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.L581V	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	902						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GAAGGTAGTTCTTCCAGCAGC	0.547																																						dbGAP											0													64.0	65.0	65.0					18																	60242018		2046	4193	6239	-	-	-	SO:0001583	missense	0			AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2704C>G	18.37:g.60242018C>G	ENSP00000269499:p.Leu902Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.L902V	ENST00000269499.5	37	c.2704	CCDS45880.1	18	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522400	0.27211	.	.	ENSG00000141664	ENST00000269499	T	0.26518	1.73	5.26	4.38	0.52667	.	0.000000	0.53938	D	0.000042	T	0.16685	0.0401	L	0.32530	0.975	0.42323	D	0.992264	B	0.33857	0.429	B	0.27608	0.081	T	0.07233	-1.0783	10	0.26408	T	0.33	-13.7858	10.2575	0.43405	0.0:0.7897:0.1365:0.0738	.	902	Q9C0B9	ZCHC2_HUMAN	V	902	ENSP00000269499:L902V	ENSP00000269499:L902V	L	+	1	0	ZCCHC2	58392998	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.393000	0.44442	1.343000	0.45638	0.563000	0.77884	CTT	ZCCHC2	-	NULL	ENSG00000141664		0.547	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	ZCCHC2	HGNC	protein_coding	OTTHUMT00000450083.1	104	0.00	0	C	NM_017742		60242018	60242018	+1	no_errors	ENST00000269499	ensembl	human	known	69_37n	missense	33	50.00	34	SNP	1.000	G
ZNF22	7570	genome.wustl.edu	37	10	45499229	45499229	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr10:45499229C>T	ENST00000298299.3	+	2	1006	c.413C>T	c.(412-414)cCc>cTc	p.P138L	C10orf25_ENST00000298298.1_5'Flank|CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	138					odontogenesis (GO:0042476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				GGAGAAAAACCCTATCAGTGT	0.478																																						dbGAP											0													89.0	90.0	90.0					10																	45499229		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC041139	CCDS7211.1	10q11	2013-01-08	2012-07-12		ENSG00000165512	ENSG00000165512		"""Zinc fingers, C2H2-type"""	13012	protein-coding gene	gene with protein product		194529					Standard	NM_006963		Approved	KOX15, HKR-T1, ZNF422, Zfp422	uc001jbw.3	P17026	OTTHUMG00000018064	ENST00000298299.3:c.413C>T	10.37:g.45499229C>T	ENSP00000298299:p.Pro138Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T741|Q96FM4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P138L	ENST00000298299.3	37	c.413	CCDS7211.1	10	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320462	0.81469	.	.	ENSG00000165512	ENST00000298299	T	0.17054	2.3	5.28	4.36	0.52297	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000169	T	0.39009	0.1062	M	0.82193	2.58	0.80722	D	1	D	0.63046	0.992	P	0.59546	0.859	T	0.28870	-1.0030	10	0.72032	D	0.01	-44.4802	12.1633	0.54115	0.0:0.9145:0.0:0.0855	.	138	P17026	ZNF22_HUMAN	L	138	ENSP00000298299:P138L	ENSP00000298299:P138L	P	+	2	0	ZNF22	44819235	0.997000	0.39634	0.988000	0.46212	0.897000	0.52465	3.892000	0.56235	2.732000	0.93576	0.655000	0.94253	CCC	ZNF22	-	pfscan_Znf_C2H2	ENSG00000165512		0.478	ZNF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF22	HGNC	protein_coding	OTTHUMT00000047761.1	123	0.00	0	C	NM_006963		45499229	45499229	+1	no_errors	ENST00000298299	ensembl	human	known	69_37n	missense	68	11.69	9	SNP	0.998	T
ZNF689	115509	genome.wustl.edu	37	16	30615937	30615937	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr16:30615937C>T	ENST00000287461.3	-	3	1488	c.1151G>A	c.(1150-1152)cGg>cAg	p.R384Q	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'Flank	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	384					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GGAGCCGCTCCGCCGGAAGGC	0.682																																						dbGAP											0													16.0	17.0	16.0					16																	30615937		2197	4296	6493	-	-	-	SO:0001583	missense	0			BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"""Zinc fingers, C2H2-type"", ""-"""	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.1151G>A	16.37:g.30615937C>T	ENSP00000287461:p.Arg384Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658J5	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.R384Q	ENST00000287461.3	37	c.1151	CCDS10686.1	16	.	.	.	.	.	.	.	.	.	.	c	8.598	0.886198	0.17540	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	T	0.35421	1.31	5.18	4.22	0.49857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46442	D	0.000295	T	0.12902	0.0313	N	0.13327	0.33	0.31071	N	0.712963	D	0.55605	0.972	B	0.31016	0.123	T	0.23013	-1.0200	10	0.02654	T	1	-21.0242	11.5591	0.50766	0.0:0.9121:0.0:0.0879	.	384	Q96CS4	ZN689_HUMAN	Q	384	ENSP00000287461:R384Q	ENSP00000287461:R384Q	R	-	2	0	ZNF689	30523438	0.000000	0.05858	1.000000	0.80357	0.992000	0.81027	-0.007000	0.12810	2.868000	0.98415	0.555000	0.69702	CGG	ZNF689	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000156853		0.682	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF689	HGNC	protein_coding	OTTHUMT00000255552.1	30	0.00	0	C	NM_138447		30615937	30615937	-1	no_errors	ENST00000287461	ensembl	human	known	69_37n	missense	28	12.50	4	SNP	1.000	T
ZNF77	58492	genome.wustl.edu	37	19	2933696	2933696	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0CM-01A-31W-A050-09	TCGA-A2-A0CM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe8023d4-5476-4c58-bf70-cbf65cdd4327	be44d49f-6519-4d7c-a1ba-577c7b365a37	g.chr19:2933696G>C	ENST00000314531.4	-	4	1521	c.1429C>G	c.(1429-1431)Cag>Gag	p.Q477E		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	477					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(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAAGTACTGAGCGTGGCTG	0.507																																						dbGAP											0													153.0	143.0	146.0					19																	2933696		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1429C>G	19.37:g.2933696G>C	ENSP00000319053:p.Gln477Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86XJ3|Q9NPP0	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.Q477E	ENST00000314531.4	37	c.1429	CCDS12099.1	19	.	.	.	.	.	.	.	.	.	.	G	9.665	1.145081	0.21288	.	.	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.14766	2.48	2.31	-4.62	0.03370	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06142	0.0159	N	0.17901	0.54	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.36986	-0.9725	9	0.41790	T	0.15	.	0.9211	0.01315	0.2804:0.3502:0.2063:0.1631	.	477	Q15935	ZNF77_HUMAN	E	271;477	ENSP00000319053:Q477E	ENSP00000319053:Q477E	Q	-	1	0	ZNF77	2884696	0.000000	0.05858	0.000000	0.03702	0.574000	0.36063	-7.339000	0.00038	-0.985000	0.03503	0.491000	0.48974	CAG	ZNF77	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000175691		0.507	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF77	HGNC	protein_coding	OTTHUMT00000451924.1	260	0.00	0	G	NM_021217		2933696	2933696	-1	no_errors	ENST00000314531	ensembl	human	known	69_37n	missense	121	15.86	23	SNP	0.000	C
