#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ACD	65057	genome.wustl.edu	37	16	67692539	67692539	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr16:67692539C>T	ENST00000393919.4	-	9	1270	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	ACD_ENST00000219251.8_Missense_Mutation_p.E333K|PARD6A_ENST00000458121.2_5'Flank|PARD6A_ENST00000602551.1_5'Flank|PARD6A_ENST00000219255.3_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	336	Interaction with POT1.				intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGGGGCAGCTCAGGGCCTGGG	0.617																																																	0													50.0	54.0	52.0					16																	67692539		2198	4300	6498	SO:0001583	missense	65057			AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.1006G>A	16.37:g.67692539C>T	ENSP00000377496:p.Glu336Lys		Q562H5|Q9H8F9	Missense_Mutation	SNP	pfam_Telomere_Pot1	p.E333K	ENST00000393919.4	37	c.997	CCDS42181.1	16	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595220	0.66219	.	.	ENSG00000102977	ENST00000219251;ENST00000393919	T;T	0.35048	1.33;1.33	4.15	3.19	0.36642	.	0.352028	0.22714	N	0.056530	T	0.22781	0.0550	L	0.27053	0.805	0.09310	N	1	B;P	0.34639	0.331;0.461	B;B	0.33339	0.078;0.162	T	0.10359	-1.0633	10	0.39692	T	0.17	-6.4421	7.8388	0.29387	0.0:0.8808:0.0:0.1192	.	336;333	Q96AP0;Q96AP0-2	ACD_HUMAN;.	K	333;336	ENSP00000219251:E333K;ENSP00000377496:E336K	ENSP00000219251:E333K	E	-	1	0	ACD	66250040	0.015000	0.18098	0.006000	0.13384	0.278000	0.26855	0.528000	0.23002	0.842000	0.35045	0.462000	0.41574	GAG	ACD	-	NULL		0.617	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACD	HGNC	protein_coding	OTTHUMT00000268880.1	C	NM_022914		67692539	-1	no_errors	ENST00000219251	ensembl	human	known	70_37	missense	SNP	0.011	T
PHYKPL	85007	genome.wustl.edu	37	5	177658509	177658509	+	Silent	SNP	G	G	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr5:177658509G>T	ENST00000308158.5	-	2	309	c.75C>A	c.(73-75)ctC>ctA	p.L25L	PHYKPL_ENST00000476170.2_Silent_p.L25L|PHYKPL_ENST00000481811.1_5'Flank	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	25						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	CGGGAAAAAAGAGTCTGCAGG	0.552																																																	0													128.0	119.0	122.0					5																	177658509		2203	4300	6503	SO:0001819	synonymous_variant	85007			BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.75C>A	5.37:g.177658509G>T			A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Silent	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom	p.L25	ENST00000308158.5	37	c.75	CCDS4434.1	5																																																																																			AGXT2L2	-	NULL		0.552	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGXT2L2	HGNC	protein_coding	OTTHUMT00000253477.1	G	NM_032921		177658509	-1	no_errors	ENST00000308158	ensembl	human	known	70_37	silent	SNP	1.000	T
ALAS2	212	genome.wustl.edu	37	X	55041279	55041279	+	Silent	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chrX:55041279C>T	ENST00000330807.5	-	9	1475	c.1338G>A	c.(1336-1338)ctG>ctA	p.L446L	ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Silent_p.L433L|ALAS2_ENST00000335854.4_Silent_p.L409L	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	446					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GGGCTCGCCTCAGGGCTTGGC	0.612																																																	0													44.0	31.0	35.0					X																	55041279		2202	4297	6499	SO:0001819	synonymous_variant	212				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1338G>A	X.37:g.55041279C>T			A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Silent	SNP	pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	p.L446	ENST00000330807.5	37	c.1338	CCDS14366.1	X																																																																																			ALAS2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth		0.612	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS2	HGNC	protein_coding	OTTHUMT00000056843.3	C	NM_000032		55041279	-1	no_errors	ENST00000330807	ensembl	human	known	70_37	silent	SNP	1.000	T
ANKLE1	126549	genome.wustl.edu	37	19	17397495	17397495	+	3'UTR	SNP	G	G	T	rs576892988|rs563327402	byFrequency	TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr19:17397495G>T	ENST00000394458.3	+	0	2258				ANKLE1_ENST00000598347.1_Missense_Mutation_p.V589L|ANKLE1_ENST00000404085.1_3'UTR|ANKLE1_ENST00000594072.1_3'UTR	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1											large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						gtgtgtgtgtgtgtgtttgtg	0.527													G|||	277	0.0553115	0.0356	0.0605	5008	,	,		14143	0.0327		0.0577	False		,,,				2504	0.0992																0																																										SO:0001624	3_prime_UTR_variant	126549			AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.*134G>T	19.37:g.17397495G>T			A8VU82|Q8N8J8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V589L	ENST00000394458.3	37	c.1765	CCDS12354.2	19	.	.	.	.	.	.	.	.	.	.	G	3.093	-0.186420	0.06340	.	.	ENSG00000160117	ENST00000438921	.	.	.	1.37	-1.1	0.09872	.	.	.	.	.	T	0.16685	0.0401	.	.	.	0.09310	N	0.999999	B	0.28552	0.215	B	0.16289	0.015	T	0.18808	-1.0325	6	.	.	.	.	3.9732	0.09462	0.4687:0.0:0.5313:0.0	.	589	E7ETZ9	.	L	589	.	.	V	+	1	0	ANKLE1	17258495	0.011000	0.17503	0.035000	0.18076	0.094000	0.18550	0.998000	0.29744	-0.222000	0.09958	0.274000	0.19336	GTG	ANKLE1	-	NULL		0.527	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE1	HGNC	protein_coding	OTTHUMT00000325392.2	G	NM_152363		17397495	+1	no_errors	ENST00000598347	ensembl	human	putative	70_37	missense	SNP	0.072	T
APOBEC4	403314	genome.wustl.edu	37	1	183617142	183617142	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:183617142C>G	ENST00000308641.4	-	2	1046	c.775G>C	c.(775-777)Gag>Cag	p.E259Q	RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Intron|APOBEC4_ENST00000481562.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	259					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						GGGTAGCTCTCTAAAGCCTCC	0.453																																																	0													94.0	99.0	97.0					1																	183617142		2203	4300	6503	SO:0001583	missense	403314			BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"""Apolipoprotein B mRNA editing enzymes"""	32152	protein-coding gene	gene with protein product		609908	"""chromosome 1 open reading frame 169"""	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.775G>C	1.37:g.183617142C>G	ENSP00000310622:p.Glu259Gln		Q8N7F6	Missense_Mutation	SNP	pfam_APOBEC_N	p.E259Q	ENST00000308641.4	37	c.775	CCDS1358.1	1	.	.	.	.	.	.	.	.	.	.	C	0.189	-1.054648	0.01965	.	.	ENSG00000173627	ENST00000308641	T	0.11930	2.73	5.0	3.01	0.34805	.	0.845194	0.10137	N	0.711390	T	0.13927	0.0337	L	0.45581	1.43	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.31916	-0.9926	10	0.16420	T	0.52	-34.3684	12.9984	0.58662	0.0:0.6274:0.3726:0.0	.	259	Q8WW27	ABEC4_HUMAN	Q	259	ENSP00000310622:E259Q	ENSP00000310622:E259Q	E	-	1	0	APOBEC4	181883765	0.091000	0.21658	0.005000	0.12908	0.011000	0.07611	1.151000	0.31651	1.059000	0.40554	0.655000	0.94253	GAG	APOBEC4	-	NULL		0.453	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC4	HGNC	protein_coding	OTTHUMT00000086126.1	C	NM_203454		183617142	-1	no_errors	ENST00000308641	ensembl	human	known	70_37	missense	SNP	0.002	G
AS3MT	57412	genome.wustl.edu	37	10	104632312	104632312	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr10:104632312G>T	ENST00000369880.3	+	4	355	c.278G>T	c.(277-279)gGt>gTt	p.G93V	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	93					arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		CAGCTGGTTGGTGAAAAAGGA	0.448																																																	0													106.0	106.0	106.0					10																	104632312		1944	4158	6102	SO:0001583	missense	57412			AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"""arsenic (+3 oxidation state) methyltransferase"""			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.278G>T	10.37:g.104632312G>T	ENSP00000358896:p.Gly93Val		A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_12,pfam_PCMT,pfam_Methyltransferase-rel	p.G93V	ENST00000369880.3	37	c.278	CCDS41567.1	10	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019571	0.75275	.	.	ENSG00000214435	ENST00000369880	T	0.39406	1.08	5.44	3.56	0.40772	Methyltransferase type 11 (1);	0.000000	0.85682	D	0.000000	T	0.71771	0.3379	H	0.95114	3.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.77054	-0.2730	10	0.87932	D	0	-17.8157	10.4121	0.44301	0.0749:0.1353:0.7899:0.0	.	93;93;93	Q0VDK3;Q9HBK9;Q0VDK4	.;AS3MT_HUMAN;.	V	93	ENSP00000358896:G93V	ENSP00000358896:G93V	G	+	2	0	AS3MT	104622302	1.000000	0.71417	0.994000	0.49952	0.889000	0.51656	5.861000	0.69553	0.762000	0.33152	0.561000	0.74099	GGT	AS3MT	-	pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_12,pfam_PCMT		0.448	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AS3MT	HGNC	protein_coding	OTTHUMT00000050107.1	G	NM_020682		104632312	+1	no_errors	ENST00000369880	ensembl	human	known	70_37	missense	SNP	1.000	T
BCL7C	9274	genome.wustl.edu	37	16	30846270	30846270	+	Nonstop_Mutation	SNP	C	C	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr16:30846270C>G	ENST00000380317.4	-	6	1085	c.728G>C	c.(727-729)tGa>tCa	p.*243S	BCL7C_ENST00000576194.1_5'UTR			Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	0					apoptotic process (GO:0006915)					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			GGAGCCCACTCACCTCCCCTT	0.667																																																	0																																										SO:0001578	stop_lost	9274			AJ223980	CCDS10693.1, CCDS67012.1	16p11	2012-11-19			ENSG00000099385	ENSG00000099385			1006	protein-coding gene	gene with protein product		605847				9931421	Standard	NM_004765		Approved		uc002dzv.3	Q8WUZ0	OTTHUMG00000177719	ENST00000380317.4:c.728G>C	16.37:g.30846270C>G			O43770|Q6PD89	Nonstop_Mutation	SNP	pfam_BCL7	p.*243S	ENST00000380317.4	37	c.728		16	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885173	0.51908	.	.	ENSG00000099385	ENST00000380317	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1496	0.54042	0.0:1.0:0.0:0.0	.	.	.	.	S	243	.	.	X	-	2	2	BCL7C	30753771	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.964000	0.49192	2.575000	0.86900	0.561000	0.74099	TGA	BCL7C	-	NULL		0.667	BCL7C-002	KNOWN	basic	protein_coding	BCL7C	HGNC	protein_coding	OTTHUMT00000255548.2	C	NM_004765		30846270	-1	no_errors	ENST00000380317	ensembl	human	known	70_37	nonstop	SNP	1.000	G
BUB1B	701	genome.wustl.edu	37	15	40498657	40498657	+	Silent	SNP	G	G	C			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr15:40498657G>C	ENST00000287598.6	+	15	2202	c.2007G>C	c.(2005-2007)ctG>ctC	p.L669L	BUB1B_ENST00000412359.3_Silent_p.L683L	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	669					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TCAAGAAGCTGAGGTGATTGG	0.413			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																														yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	0													96.0	103.0	101.0					15																	40498657		2203	4300	6503	SO:0001819	synonymous_variant	701	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2007G>C	15.37:g.40498657G>C			B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I	p.L683	ENST00000287598.6	37	c.2049	CCDS10053.1	15																																																																																			BUB1B	-	NULL		0.413	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1B	HGNC	protein_coding	OTTHUMT00000252122.4	G			40498657	+1	no_errors	ENST00000412359	ensembl	human	known	70_37	silent	SNP	0.998	C
C17orf62	79415	genome.wustl.edu	37	17	80401643	80401643	+	3'UTR	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr17:80401643C>T	ENST00000437807.2	-	0	1118				C17orf62_ENST00000336995.7_Nonsense_Mutation_p.W119*|C17orf62_ENST00000577436.1_3'UTR|C17orf62_ENST00000342572.8_3'UTR|C17orf62_ENST00000306645.5_3'UTR|C17orf62_ENST00000583359.1_5'Flank|C17orf62_ENST00000583617.1_Missense_Mutation_p.G167S|C17orf62_ENST00000434650.2_3'UTR	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62							integral component of membrane (GO:0016021)				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AAGCCAAGGCCACGGGTCCTG	0.647																																																	0																																										SO:0001624	3_prime_UTR_variant	79415			AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.*237G>A	17.37:g.80401643C>T			E1B6X3|Q96NR1	Nonsense_Mutation	SNP	NULL	p.W119*	ENST00000437807.2	37	c.356	CCDS32776.1	17	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754059	0.69648	.	.	ENSG00000178927	ENST00000342572;ENST00000536759;ENST00000336995	.	.	.	1.3	-0.945	0.10388	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.0308	0.09708	0.0:0.5394:0.0:0.4606	.	.	.	.	X	157;124;119	.	ENSP00000337560:W119X	W	-	2	0	C17orf62	77994932	0.000000	0.05858	0.010000	0.14722	0.037000	0.13140	-1.483000	0.02318	-0.274000	0.09232	-0.497000	0.04613	TGG	C17orf62	-	NULL		0.647	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C17orf62	HGNC	protein_coding	OTTHUMT00000443260.1	C	NM_001033046		80401643	-1	no_errors	ENST00000336995	ensembl	human	known	70_37	nonsense	SNP	0.011	T
C2CD3	26005	genome.wustl.edu	37	11	73849868	73849868	+	Silent	SNP	C	C	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr11:73849868C>G	ENST00000334126.7	-	5	1078	c.852G>C	c.(850-852)ctG>ctC	p.L284L	C2CD3_ENST00000539061.1_Silent_p.L284L|C2CD3_ENST00000313663.7_Silent_p.L284L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	284					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CAGAACTGTTCAGAAGGGACA	0.438																																																	0													142.0	125.0	131.0					11																	73849868		2200	4293	6493	SO:0001819	synonymous_variant	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.852G>C	11.37:g.73849868C>G			C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.L284	ENST00000334126.7	37	c.852		11																																																																																			C2CD3	-	NULL		0.438	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		C	NM_015531		73849868	-1	no_errors	ENST00000334126	ensembl	human	known	70_37	silent	SNP	0.998	G
CNOT11	55571	genome.wustl.edu	37	2	101869796	101869812	+	Frame_Shift_Del	DEL	CGCCTCACGGCGCTCTA	CGCCTCACGGCGCTCTA	-			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	CGCCTCACGGCGCTCTA	CGCCTCACGGCGCTCTA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr2:101869796_101869812delCGCCTCACGGCGCTCTA	ENST00000289382.3	+	1	533_549	c.370_386delCGCCTCACGGCGCTCTA	c.(370-387)cgcctcacggcgctctacfs	p.RLTALY124fs	TBC1D8_ENST00000462819.1_5'Flank	NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	124					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											CGCGGCGCAGCGCCTCACGGCGCTCTACCTGCTCTGG	0.724																																																	0																																										SO:0001589	frameshift_variant	55571			AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.370_386delCGCCTCACGGCGCTCTA	2.37:g.101869796_101869812delCGCCTCACGGCGCTCTA	ENSP00000289382:p.Arg124fs		Q6P2M9|Q8N681	Frame_Shift_Del	DEL	pfam_DUF2363	p.R124fs	ENST00000289382.3	37	c.370_386	CCDS2050.1	2																																																																																			C2orf29	-	NULL		0.724	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf29	HGNC	protein_coding	OTTHUMT00000253181.1	CGCCTCACGGCGCTCTA	NM_017546		101869812	+1	no_errors	ENST00000289382	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:0.839:1.000:1.000:0.977:1.000:1.000:1.000:1.000:1.000	-
C9	735	genome.wustl.edu	37	5	39308447	39308447	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr5:39308447delT	ENST00000263408.4	-	8	1220	c.1125delA	c.(1123-1125)aaafs	p.K375fs		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	375	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCTTTATGTCTTTTAGTTCAA	0.318																																																	0													90.0	89.0	89.0					5																	39308447		2203	4300	6503	SO:0001589	frameshift_variant	735				CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1125delA	5.37:g.39308447delT	ENSP00000263408:p.Lys375fs			Frame_Shift_Del	DEL	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt	p.D376fs	ENST00000263408.4	37	c.1125	CCDS3929.1	5																																																																																			C9	-	pfam_MACPF,smart_MACPF		0.318	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9	HGNC	protein_coding	OTTHUMT00000211576.3	T			39308447	-1	no_errors	ENST00000263408	ensembl	human	known	70_37	frame_shift_del	DEL	0.002	-
C9orf170	401535	genome.wustl.edu	37	9	89771629	89771629	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr9:89771629A>G	ENST00000375941.2	+	2	397	c.310A>G	c.(310-312)Agc>Ggc	p.S104G		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	104										large_intestine(3)|lung(2)|prostate(1)	6						CCATGAAAACAGCCAAAATAA	0.413																																																	0													86.0	84.0	85.0					9																	89771629		2203	4300	6503	SO:0001583	missense	401535			AK127445	CCDS35058.1	9q21.33	2009-02-11			ENSG00000204446	ENSG00000204446			33817	protein-coding gene	gene with protein product							Standard	NM_001001709		Approved	FLJ45537	uc004apa.1	A2RU37	OTTHUMG00000159587	ENST00000375941.2:c.310A>G	9.37:g.89771629A>G	ENSP00000365108:p.Ser104Gly			Missense_Mutation	SNP	NULL	p.S104G	ENST00000375941.2	37	c.310	CCDS35058.1	9	.	.	.	.	.	.	.	.	.	.	A	2.538	-0.306951	0.05458	.	.	ENSG00000204446	ENST00000375941	.	.	.	1.93	-0.0469	0.13845	.	.	.	.	.	T	0.16727	0.0402	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20405	-1.0276	8	0.87932	D	0	.	4.1877	0.10405	0.3911:0.0:0.6089:0.0	.	104	A2RU37	CI170_HUMAN	G	104	.	ENSP00000365108:S104G	S	+	1	0	C9orf170	88961449	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.113000	0.03296	-0.022000	0.13986	-0.961000	0.02630	AGC	C9orf170	-	NULL		0.413	C9orf170-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf170	HGNC	protein_coding	OTTHUMT00000356346.1	A	NM_001001709		89771629	+1	no_errors	ENST00000375941	ensembl	human	known	70_37	missense	SNP	0.000	G
CAMK2B	816	genome.wustl.edu	37	7	44283089	44283089	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr7:44283089G>T	ENST00000395749.2	-	7	528	c.452C>A	c.(451-453)gCt>gAt	p.A151D	CAMK2B_ENST00000502837.2_Missense_Mutation_p.A22D|CAMK2B_ENST00000395747.2_Missense_Mutation_p.A151D|CAMK2B_ENST00000440254.2_Missense_Mutation_p.A151D|CAMK2B_ENST00000350811.3_Missense_Mutation_p.A151D|CAMK2B_ENST00000258682.6_Missense_Mutation_p.A151D|CAMK2B_ENST00000457475.1_Missense_Mutation_p.A151D|CAMK2B_ENST00000358707.3_Missense_Mutation_p.A151D|CAMK2B_ENST00000346990.4_Missense_Mutation_p.A151D|CAMK2B_ENST00000353625.4_Missense_Mutation_p.A151D|CAMK2B_ENST00000347193.4_Missense_Mutation_p.A151D	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	151	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CTTCACTGCAGCCCCTTTGCA	0.597																																																	0													104.0	89.0	94.0					7																	44283089		2203	4300	6503	SO:0001583	missense	816			U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.452C>A	7.37:g.44283089G>T	ENSP00000379098:p.Ala151Asp		A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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.A151D	ENST00000395749.2	37	c.452	CCDS5483.1	7	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781492	0.90282	.	.	ENSG00000058404	ENST00000350811;ENST00000457475;ENST00000395749;ENST00000502837;ENST00000440254;ENST00000358707;ENST00000353625;ENST00000347193;ENST00000346990;ENST00000258682;ENST00000395747;ENST00000415369;ENST00000424197	T;T;T;T;T;T;T;T;T;T;T;T;T	0.70164	-0.24;-0.23;-0.22;0.47;-0.24;-0.25;-0.24;-0.25;-0.46;-0.23;-0.23;0.59;0.54	4.13	4.13	0.48395	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.72486	0.3466	L	0.27944	0.81	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.996;0.999;0.995;1.0;0.999;0.998;0.988;1.0;1.0	T	0.77373	-0.2612	9	0.87932	D	0	.	16.2039	0.82108	0.0:0.0:1.0:0.0	.	151;151;151;151;151;151;151;151;151	Q13554-8;Q13554-7;Q13554-4;Q13554-3;Q13554-6;A4D2K5;Q13554-5;Q13554;Q13554-2	.;.;.;.;.;.;.;KCC2B_HUMAN;.	D	151;151;151;22;151;151;151;151;151;151;151;167;163	ENSP00000326375:A151D;ENSP00000390292:A151D;ENSP00000379098:A151D;ENSP00000422416:A22D;ENSP00000397937:A151D;ENSP00000351542:A151D;ENSP00000326427:A151D;ENSP00000326544:A151D;ENSP00000326518:A151D;ENSP00000258682:A151D;ENSP00000379096:A151D;ENSP00000390419:A167D;ENSP00000400387:A163D	ENSP00000258682:A151D	A	-	2	0	CAMK2B	44249614	1.000000	0.71417	0.913000	0.36048	0.749000	0.42624	7.598000	0.82745	2.132000	0.65825	0.650000	0.86243	GCT	CAMK2B	-	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		0.597	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	CAMK2B	HGNC	protein_coding	OTTHUMT00000251138.2	G	NM_172084		44283089	-1	no_errors	ENST00000395749	ensembl	human	known	70_37	missense	SNP	0.999	T
CAMKK2	10645	genome.wustl.edu	37	12	121712313	121712313	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr12:121712313G>C	ENST00000324774.5	-	2	845	c.17C>G	c.(16-18)tCt>tGt	p.S6C	CAMKK2_ENST00000404169.3_Missense_Mutation_p.S6C|CAMKK2_ENST00000347034.2_Missense_Mutation_p.S6C|CAMKK2_ENST00000402834.4_Missense_Mutation_p.S6C|CAMKK2_ENST00000392474.2_Missense_Mutation_p.S6C|CAMKK2_ENST00000412367.2_Missense_Mutation_p.S6C|CAMKK2_ENST00000538733.1_Missense_Mutation_p.S6C|CAMKK2_ENST00000337174.3_Missense_Mutation_p.S6C|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000392473.2_Missense_Mutation_p.S6C|CAMKK2_ENST00000446440.2_Missense_Mutation_p.S6C	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	6					calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGCTGGCTAGAGACACATGA	0.662																																																	0													12.0	15.0	14.0					12																	121712313		2184	4248	6432	SO:0001583	missense	10645			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.17C>G	12.37:g.121712313G>C	ENSP00000312741:p.Ser6Cys		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_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.S6C	ENST00000324774.5	37	c.17	CCDS9216.1	12	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177883	0.78564	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473;ENST00000543477;ENST00000544485;ENST00000398924	T;T;T;T;T;T;T;T;T;T;T	0.78003	-1.09;-1.11;-1.05;-1.06;-1.14;-1.06;-1.14;-1.07;-1.06;1.29;0.93	5.61	5.61	0.85477	.	0.199296	0.32120	N	0.006558	T	0.77089	0.4079	N	0.24115	0.695	0.36174	D	0.848972	D;D;D;D;D;D;D	0.67145	0.993;0.993;0.993;0.993;0.996;0.988;0.993	P;P;P;P;P;P;P	0.53360	0.724;0.724;0.724;0.724;0.724;0.533;0.724	T	0.83172	-0.0093	10	0.72032	D	0.01	15.4101	18.6113	0.91286	0.0:0.0:1.0:0.0	.	6;6;6;6;6;6;6	Q96RR4-6;Q96RR4-2;Q96RR4-7;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;KKCC2_HUMAN;.	C	6	ENSP00000376266:S6C;ENSP00000321230:S6C;ENSP00000445944:S6C;ENSP00000336634:S6C;ENSP00000312741:S6C;ENSP00000388368:S6C;ENSP00000384600:S6C;ENSP00000388273:S6C;ENSP00000376265:S6C;ENSP00000444894:S6C;ENSP00000445400:S6C	ENSP00000312741:S6C	S	-	2	0	CAMKK2	120196696	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.801000	0.85960	2.643000	0.89663	0.462000	0.41574	TCT	CAMKK2	-	NULL		0.662	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMKK2	HGNC	protein_coding	OTTHUMT00000402563.1	G	NM_172226		121712313	-1	no_errors	ENST00000324774	ensembl	human	known	70_37	missense	SNP	1.000	C
CAPN12	147968	genome.wustl.edu	37	19	39232548	39232548	+	Silent	SNP	G	G	C			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr19:39232548G>C	ENST00000328867.4	-	4	737	c.429C>G	c.(427-429)ctC>ctG	p.L143L	CAPN12_ENST00000601953.1_5'UTR|CTD-2540F13.2_ENST00000602255.1_RNA	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	143	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CAAACTGCCAGAGCTGGTGGG	0.622																																																	0													60.0	42.0	48.0					19																	39232548		2203	4300	6503	SO:0001819	synonymous_variant	147968			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.429C>G	19.37:g.39232548G>C				Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.L143	ENST00000328867.4	37	c.429	CCDS12519.1	19																																																																																			CAPN12	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.622	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN12	HGNC	protein_coding	OTTHUMT00000462151.1	G			39232548	-1	no_errors	ENST00000328867	ensembl	human	known	70_37	silent	SNP	1.000	C
CCDC108	255101	genome.wustl.edu	37	2	219892628	219892628	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr2:219892628C>T	ENST00000341552.5	-	13	2038	c.1955G>A	c.(1954-1956)aGt>aAt	p.S652N	CCDC108_ENST00000453220.1_Missense_Mutation_p.S652N|CCDC108_ENST00000441968.1_Missense_Mutation_p.S652N|CCDC108_ENST00000409865.3_Missense_Mutation_p.S641N|CCDC108_ENST00000410037.1_Missense_Mutation_p.S587N	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	652						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.S652I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCTCTACACTGATGGGCGG	0.612																																																	1	Substitution - Missense(1)	lung(1)											43.0	46.0	45.0					2																	219892628		2203	4300	6503	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1955G>A	2.37:g.219892628C>T	ENSP00000340776:p.Ser652Asn		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.S652N	ENST00000341552.5	37	c.1955	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586707	0.46110	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000545086;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.10382	3.17;3.17;3.17;2.88;2.89	5.18	3.27	0.37495	.	0.393310	0.21756	N	0.069597	T	0.25606	0.0623	L	0.59436	1.845	0.80722	D	1	D;D;D	0.63046	0.992;0.985;0.992	P;P;P	0.61397	0.888;0.795;0.888	T	0.02821	-1.1106	10	0.46703	T	0.11	-9.8413	15.2267	0.73357	0.0:0.5684:0.4316:0.0	.	641;586;652	E9PG25;B4DYZ8;Q6ZU64	.;.;CC108_HUMAN	N	652;652;652;128;641;587;586	ENSP00000340776:S652N;ENSP00000413377:S652N;ENSP00000409117:S652N;ENSP00000386945:S641N;ENSP00000386258:S587N	ENSP00000340776:S652N	S	-	2	0	CCDC108	219600872	0.975000	0.34042	0.774000	0.31636	0.230000	0.25150	1.736000	0.38187	1.378000	0.46305	0.655000	0.94253	AGT	CCDC108	-	NULL		0.612	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	C	NM_194302		219892628	-1	no_errors	ENST00000341552	ensembl	human	known	70_37	missense	SNP	0.890	T
CD163L1	283316	genome.wustl.edu	37	12	7526002	7526002	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr12:7526002G>A	ENST00000313599.3	-	14	3701	c.3644C>T	c.(3643-3645)aCg>aTg	p.T1215M	CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000396630.1_Missense_Mutation_p.T1215M|CD163L1_ENST00000416109.2_Missense_Mutation_p.T1225M			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1215	SRCR 11. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.T1215M(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GGAGATATGCGTTTTAGGACA	0.527																																																	1	Substitution - Missense(1)	large_intestine(1)											149.0	121.0	130.0					12																	7526002		2203	4300	6503	SO:0001583	missense	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3644C>T	12.37:g.7526002G>A	ENSP00000315945:p.Thr1215Met		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.T1215M	ENST00000313599.3	37	c.3644	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	G	2.333	-0.352846	0.05173	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.37058	1.22;1.22;1.22	2.25	-4.5	0.03493	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.309370	0.06101	N	0.665345	T	0.23926	0.0579	L	0.38838	1.175	0.09310	N	1	B;B	0.21753	0.015;0.06	B;B	0.24848	0.01;0.056	T	0.13953	-1.0490	10	0.27082	T	0.32	.	3.4183	0.07384	0.5963:0.1674:0.132:0.1043	.	1225;1215	E7EVK4;Q9NR16	.;C163B_HUMAN	M	1215;1225;1215	ENSP00000315945:T1215M;ENSP00000393474:T1225M;ENSP00000379871:T1215M	ENSP00000315945:T1215M	T	-	2	0	CD163L1	7417269	0.000000	0.05858	0.000000	0.03702	0.340000	0.28889	-1.169000	0.03120	-2.706000	0.00396	-0.693000	0.03709	ACG	CD163L1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.527	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	G	NM_174941		7526002	-1	no_errors	ENST00000313599	ensembl	human	known	70_37	missense	SNP	0.000	A
CDH9	1007	genome.wustl.edu	37	5	26915832	26915832	+	Silent	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr5:26915832C>T	ENST00000231021.4	-	3	601	c.429G>A	c.(427-429)tcG>tcA	p.S143S		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	143	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S143S(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGATAAATTCCGATTCCGGTT	0.398																																					Melanoma(8;187 585 15745 40864 52829)												1	Substitution - coding silent(1)	lung(1)											116.0	116.0	116.0					5																	26915832		2203	4299	6502	SO:0001819	synonymous_variant	1007			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.429G>A	5.37:g.26915832C>T			Q3B7I5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S143	ENST00000231021.4	37	c.429	CCDS3893.1	5																																																																																			CDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.398	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	C	NM_016279		26915832	-1	no_errors	ENST00000231021	ensembl	human	known	70_37	silent	SNP	0.927	T
CEBPZ	10153	genome.wustl.edu	37	2	37428918	37428919	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr2:37428918_37428919insT	ENST00000234170.5	-	16	3298_3299	c.3153_3154insA	c.(3151-3156)aaacaafs	p.Q1052fs	AC007390.5_ENST00000397064.2_Intron|AC007390.5_ENST00000397226.2_Intron|AC007390.5_ENST00000402297.1_Intron|AC007390.5_ENST00000392061.2_Intron|AC007390.5_ENST00000406711.1_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	1052					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				CATTTCCTTTGTTTTTTAGTTT	0.282																																																	0																																										SO:0001589	frameshift_variant	10153			M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.3154dupA	2.37:g.37428924_37428924dupT	ENSP00000234170:p.Gln1052fs		Q8NE75	Frame_Shift_Ins	INS	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.Q1051fs	ENST00000234170.5	37	c.3154_3153	CCDS1787.1	2																																																																																			CEBPZ	-	NULL		0.282	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPZ	HGNC	protein_coding	OTTHUMT00000218569.2	-	NM_005760		37428919	-1	no_errors	ENST00000234170	ensembl	human	known	70_37	frame_shift_ins	INS	0.990:0.984	T
CGB1	114335	genome.wustl.edu	37	19	49539053	49539053	+	Silent	SNP	C	C	A			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr19:49539053C>A	ENST00000301407.7	-	3	386	c.282G>T	c.(280-282)gtG>gtT	p.V94V	CTB-60B18.6_ENST00000591656.1_Intron|CGB1_ENST00000391869.3_Silent_p.V94V	NM_033377.1	NP_203695.2	A6NKQ9	CGB1_HUMAN	chorionic gonadotropin, beta polypeptide 1	126						extracellular region (GO:0005576)				liver(1)|lung(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CCACGGGGTTCACGCCGCGCG	0.687																																																	0													5.0	8.0	7.0					19																	49539053		1720	3746	5466	SO:0001819	synonymous_variant	114335			S80935	CCDS12751.2	19q13.32	2012-10-03				ENSG00000267631			16721	protein-coding gene	gene with protein product		608823				6194155	Standard	NM_033377		Approved		uc002plx.3	A6NKQ9	OTTHUMG00000150186	ENST00000301407.7:c.282G>T	19.37:g.49539053C>A			A4FVC8|A8MUK6	Silent	SNP	pfam_Cys_knot,smart_Gonadotropin_bsu	p.V94	ENST00000301407.7	37	c.282	CCDS12751.2	19																																																																																			CGB1	-	pfam_Cys_knot,smart_Gonadotropin_bsu		0.687	CGB1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	CGB1	HGNC	protein_coding	OTTHUMT00000316746.4	C	NM_033377		49539053	-1	no_errors	ENST00000301407	ensembl	human	known	70_37	silent	SNP	1.000	A
CNIH3	149111	genome.wustl.edu	37	1	224872537	224872537	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:224872537C>G	ENST00000272133.3	+	3	1072	c.190C>G	c.(190-192)Ctg>Gtg	p.L64V		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	64					intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)			large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CTGCTTCCTTCTGCGAAAGGT	0.537																																																	0													198.0	156.0	170.0					1																	224872537		2203	4300	6503	SO:0001583	missense	149111			AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"""cornichon homolog 3 (Drosophila)"""			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.190C>G	1.37:g.224872537C>G	ENSP00000272133:p.Leu64Val			Missense_Mutation	SNP	pfam_Cornichon	p.L64V	ENST00000272133.3	37	c.190	CCDS1544.1	1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532874	0.45073	.	.	ENSG00000143786	ENST00000272133	T	0.54675	0.56	4.49	2.2	0.27929	.	0.000000	0.64402	U	0.000004	T	0.45498	0.1345	L	0.45470	1.425	0.80722	D	1	B	0.34147	0.438	B	0.36134	0.218	T	0.50600	-0.8809	10	0.72032	D	0.01	-4.671	10.7685	0.46308	0.0:0.8028:0.0:0.1972	.	64	Q8TBE1	CNIH3_HUMAN	V	64	ENSP00000272133:L64V	ENSP00000272133:L64V	L	+	1	2	CNIH3	222939160	0.996000	0.38824	0.998000	0.56505	0.988000	0.76386	2.045000	0.41250	0.901000	0.36495	0.551000	0.68910	CTG	CNIH3	-	pfam_Cornichon		0.537	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNIH3	HGNC	protein_coding	OTTHUMT00000091752.2	C	NM_152495		224872537	+1	no_errors	ENST00000272133	ensembl	human	known	70_37	missense	SNP	0.999	G
CNTLN	54875	genome.wustl.edu	37	9	17309221	17309221	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr9:17309221C>T	ENST00000380647.3	+	8	1396	c.1312C>T	c.(1312-1314)Caa>Taa	p.Q438*	CNTLN_ENST00000262360.5_Nonsense_Mutation_p.Q438*|CNTLN_ENST00000425824.1_Nonsense_Mutation_p.Q438*			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	438					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TCCTTTACCTCAAGAAAGTGA	0.343																																																	0													63.0	62.0	62.0					9																	17309221		1838	4087	5925	SO:0001587	stop_gained	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1312C>T	9.37:g.17309221C>T	ENSP00000370021:p.Gln438*		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.Q438*	ENST00000380647.3	37	c.1312	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	C	31	5.072618	0.93950	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	.	.	.	5.66	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	14.502	0.67729	0.0:0.9238:0.0:0.0762	.	.	.	.	X	438	.	ENSP00000262360:Q438X	Q	+	1	0	CNTLN	17299221	0.006000	0.16342	0.059000	0.19551	0.147000	0.21601	1.366000	0.34193	2.830000	0.97506	0.585000	0.79938	CAA	CNTLN	-	NULL		0.343	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	C	NM_017738		17309221	+1	no_errors	ENST00000380647	ensembl	human	known	70_37	nonsense	SNP	0.238	T
CRAMP1L	57585	genome.wustl.edu	37	16	1723911	1723911	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr16:1723911G>T	ENST00000397412.3	+	21	3774	c.3675G>T	c.(3673-3675)atG>atT	p.M1225I	CRAMP1L_ENST00000436138.3_Missense_Mutation_p.M1222I|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.M1225I|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.M600I			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1225	Ser-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						TGTGCATGATGAACGAAAACA	0.557																																																	0													119.0	123.0	122.0					16																	1723911		2105	4233	6338	SO:0001583	missense	57585			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.3675G>T	16.37:g.1723911G>T	ENSP00000380559:p.Met1225Ile		A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.M1225I	ENST00000397412.3	37	c.3675	CCDS10440.2	16	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010147	0.93346	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.73729	0.3624	L	0.36672	1.1	0.51233	D	0.999916	D	0.59767	0.986	D	0.70935	0.971	T	0.74144	-0.3760	9	0.87932	D	0	-33.3839	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1225	Q96RY5	CRML_HUMAN	I	1225;1225;1222;600	.	ENSP00000262317:M600I	M	+	3	0	CRAMP1L	1663912	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.140000	0.94607	2.884000	0.98904	0.655000	0.94253	ATG	CRAMP1L	-	NULL		0.557	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAMP1L	HGNC	protein_coding	OTTHUMT00000157297.4	G			1723911	+1	no_errors	ENST00000293925	ensembl	human	known	70_37	missense	SNP	1.000	T
CYB5R1	51706	genome.wustl.edu	37	1	202931828	202931828	+	Splice_Site	SNP	C	C	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:202931828C>G	ENST00000367249.4	-	9	820		c.e9-1		CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1						sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	TAGGCCCAATCTGAAGTATGG	0.567																																																	0													69.0	63.0	65.0					1																	202931828		2203	4300	6503	SO:0001630	splice_region_variant	51706			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.746-1G>C	1.37:g.202931828C>G			A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Splice_Site	SNP	-	e9-1	ENST00000367249.4	37	c.746-1	CCDS1431.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944379	0.73672	.	.	ENSG00000159348	ENST00000367249	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1659	0.89727	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYB5R1	201198451	1.000000	0.71417	0.892000	0.35008	0.739000	0.42172	7.459000	0.80802	2.894000	0.99253	0.591000	0.81541	.	CYB5R1	-	-		0.567	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R1	HGNC	protein_coding	OTTHUMT00000099155.1	C	NM_016243	Intron	202931828	-1	no_errors	ENST00000367249	ensembl	human	known	70_37	splice_site	SNP	1.000	G
CYP2C19	1557	genome.wustl.edu	37	10	96580375	96580375	+	Silent	SNP	G	G	A			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr10:96580375G>A	ENST00000371321.3	+	6	1024	c.942G>A	c.(940-942)ctG>ctA	p.L314L	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	314					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTCTCCTGCTGAAGCACCCAG	0.448																																																	0													180.0	163.0	169.0					10																	96580375		2203	4300	6503	SO:0001819	synonymous_variant	1557			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.942G>A	10.37:g.96580375G>A			P33259|Q8WZB1|Q8WZB2|Q9UCD4	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.L314	ENST00000371321.3	37	c.942	CCDS7436.1	10																																																																																			CYP2C19	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450		0.448	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C19	HGNC	protein_coding	OTTHUMT00000049490.1	G	NM_000769		96580375	+1	no_errors	ENST00000371321	ensembl	human	known	70_37	silent	SNP	0.879	A
DDIT4L	115265	genome.wustl.edu	37	4	101109298	101109298	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr4:101109298G>A	ENST00000273990.2	-	3	332	c.118C>T	c.(118-120)Cct>Tct	p.P40S	RP11-588P8.1_ENST00000515782.1_RNA|RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	40					negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		TTGGGTTCAGGAACAACATAA	0.333																																																	0													52.0	55.0	54.0					4																	101109298		2200	4297	6497	SO:0001583	missense	115265			BC013592	CCDS34036.1	4q23	2008-02-05				ENSG00000145358			30555	protein-coding gene	gene with protein product	"""regulated in development and DNA damage response 2"", "" similar to Smhs1 protein"""	607730				12477932	Standard	NM_145244		Approved	REDD2, Rtp801L	uc003hvq.3	Q96D03		ENST00000273990.2:c.118C>T	4.37:g.101109298G>A	ENSP00000354830:p.Pro40Ser		B2R7C3	Missense_Mutation	SNP	pfam_RTP801-like	p.P40S	ENST00000273990.2	37	c.118	CCDS34036.1	4	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198040	0.38806	.	.	ENSG00000145358	ENST00000273990;ENST00000502763;ENST00000513992	T;T	0.46451	0.88;0.87	5.63	5.63	0.86233	.	0.076020	0.53938	D	0.000045	T	0.27765	0.0683	N	0.19112	0.55	0.33634	D	0.606434	P	0.39809	0.689	B	0.34590	0.186	T	0.44143	-0.9347	10	0.44086	T	0.13	-20.4066	13.4482	0.61153	0.0:0.0:0.8432:0.1568	.	40	Q96D03	DDT4L_HUMAN	S	40	ENSP00000354830:P40S;ENSP00000427301:P40S	ENSP00000354830:P40S	P	-	1	0	DDIT4L	101328321	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.027000	0.49697	2.652000	0.90054	0.655000	0.94253	CCT	DDIT4L	-	NULL		0.333	DDIT4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDIT4L	HGNC	protein_coding	OTTHUMT00000363423.1	G	NM_145244		101109298	-1	no_errors	ENST00000273990	ensembl	human	known	70_37	missense	SNP	1.000	A
DDX52	11056	genome.wustl.edu	37	17	36002173	36002173	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr17:36002173C>G	ENST00000349699.2	-	2	295	c.252G>C	c.(250-252)gaG>gaC	p.E84D	RP11-697E22.2_ENST00000586950.1_RNA|RP11-697E22.2_ENST00000586163.1_RNA|DDX52_ENST00000394367.3_5'UTR	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	84						membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				TCTTGCTCTGCTCCCTCTTCC	0.383																																																	0													191.0	191.0	191.0					17																	36002173		2203	4300	6503	SO:0001583	missense	11056			AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.252G>C	17.37:g.36002173C>G	ENSP00000268854:p.Glu84Asp		Q86YG1|Q8N213|Q9NVE0|Q9Y482	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E84D	ENST00000349699.2	37	c.252	CCDS11323.1	17	.	.	.	.	.	.	.	.	.	.	C	6.534	0.466832	0.12402	.	.	ENSG00000141141	ENST00000349699	T	0.15017	2.46	4.82	0.0919	0.14470	.	2.277430	0.01108	N	0.005514	T	0.10423	0.0255	N	0.22421	0.69	0.09310	N	0.999993	B	0.21905	0.062	B	0.15484	0.013	T	0.17319	-1.0373	10	0.10636	T	0.68	.	3.7706	0.08640	0.1689:0.5413:0.0:0.2897	.	84	Q9Y2R4	DDX52_HUMAN	D	84	ENSP00000268854:E84D	ENSP00000268854:E84D	E	-	3	2	DDX52	33076286	0.002000	0.14202	0.001000	0.08648	0.029000	0.11900	-0.074000	0.11450	-0.107000	0.12088	0.491000	0.48974	GAG	DDX52	-	NULL		0.383	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX52	HGNC	protein_coding	OTTHUMT00000256795.1	C	NM_152300		36002173	-1	no_errors	ENST00000349699	ensembl	human	known	70_37	missense	SNP	0.001	G
DEFB113	245927	genome.wustl.edu	37	6	49936402	49936402	+	Silent	SNP	G	G	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr6:49936402G>T	ENST00000398718.1	-	2	236	c.237C>A	c.(235-237)ctC>ctA	p.L79L		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	79					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					atttttGATGGAGTTTACTAG	0.284																																																	0													35.0	31.0	32.0					6																	49936402		1770	3992	5762	SO:0001819	synonymous_variant	245927			DQ012017	CCDS43472.1	6p12.3	2010-03-30			ENSG00000214642	ENSG00000214642		"""Defensins, beta"""	18094	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037729		Approved	DEFB-13	uc011dwq.2	Q30KQ7	OTTHUMG00000160210	ENST00000398718.1:c.237C>A	6.37:g.49936402G>T				Silent	SNP	NULL	p.L79	ENST00000398718.1	37	c.237	CCDS43472.1	6																																																																																			DEFB113	-	NULL		0.284	DEFB113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB113	HGNC	protein_coding	OTTHUMT00000359666.1	G			49936402	-1	no_errors	ENST00000398718	ensembl	human	known	70_37	silent	SNP	0.000	T
DNAH3	55567	genome.wustl.edu	37	16	20976329	20976329	+	Silent	SNP	G	G	A			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr16:20976329G>A	ENST00000261383.3	-	53	8876	c.8877C>T	c.(8875-8877)atC>atT	p.I2959I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2959	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTTGGGAGCAGATTTCAATGT	0.522																																																	0													157.0	149.0	152.0					16																	20976329		2201	4300	6501	SO:0001819	synonymous_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8877C>T	16.37:g.20976329G>A			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.I2959	ENST00000261383.3	37	c.8877	CCDS10594.1	16																																																																																			DNAH3	-	superfamily_Prefoldin		0.522	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	G	NM_017539		20976329	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	silent	SNP	0.895	A
DNAH3	55567	genome.wustl.edu	37	16	21139040	21139040	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr16:21139040G>T	ENST00000261383.3	-	8	1175	c.1176C>A	c.(1174-1176)caC>caA	p.H392Q	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.H392Q	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	392	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCTCCAGGCAGTGTTTCTGGA	0.478																																																	0													139.0	129.0	132.0					16																	21139040		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1176C>A	16.37:g.21139040G>T	ENSP00000261383:p.His392Gln		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.H392Q	ENST00000261383.3	37	c.1176	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	G	5.509	0.278834	0.10458	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.21543	2.0;2.14	5.57	3.51	0.40186	.	0.214071	0.40222	N	0.001154	T	0.12050	0.0293	N	0.25647	0.755	0.32298	N	0.565421	B;B	0.25272	0.013;0.122	B;B	0.20955	0.006;0.032	T	0.16689	-1.0394	10	0.13853	T	0.58	.	8.6104	0.33800	0.0829:0.1524:0.7647:0.0	.	392;363	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	Q	392;392;363	ENSP00000261383:H392Q;ENSP00000394245:H392Q	ENSP00000261383:H392Q	H	-	3	2	DNAH3	21046541	0.994000	0.37717	0.997000	0.53966	0.620000	0.37586	0.141000	0.16076	1.357000	0.45904	-0.244000	0.11960	CAC	DNAH3	-	NULL		0.478	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	G	NM_017539		21139040	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	missense	SNP	1.000	T
DNM1P46	196968	genome.wustl.edu	37	15	100330967	100330968	+	RNA	INS	-	-	AC	rs140786979|rs200716088	byFrequency	TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr15:100330967_100330968insAC	ENST00000341853.1	-	0	3223_3224				RN7SL484P_ENST00000462651.2_RNA|AC090825.1_ENST00000408584.1_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										Aacacatagatacacacacaca	0.386														561	0.112021	0.1233	0.0807	5008	,	,		16433	0.0585		0.0974	False		,,,				2504	0.1892																0																																												196968			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100330976_100330977dupAC			Q3ZCN3	RNA	INS	-	NULL	ENST00000341853.1	37	NULL		15																																																																																			DNM1P46	-	-		0.386	DNM1P46-002	KNOWN	basic	processed_transcript	DNM1P46	HGNC	pseudogene	OTTHUMT00000313543.1	-	NR_003260		100330968	-1	no_errors	ENST00000341853	ensembl	human	known	70_37	rna	INS	0.006:0.008	AC
DTX4	23220	genome.wustl.edu	37	11	58956669	58956669	+	Silent	SNP	G	G	A			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr11:58956669G>A	ENST00000227451.3	+	4	1136	c.1032G>A	c.(1030-1032)ctG>ctA	p.L344L	DTX4_ENST00000532982.1_Silent_p.L238L|DTX4_ENST00000531902.1_3'UTR	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	344					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CAGCGGGGCTGCCTGTGTGTC	0.557																																																	0													33.0	38.0	36.0					11																	58956669		1943	4137	6080	SO:0001819	synonymous_variant	23220			AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1032G>A	11.37:g.58956669G>A			Q0VF38	Silent	SNP	pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.L344	ENST00000227451.3	37	c.1032	CCDS44612.1	11																																																																																			DTX4	-	NULL		0.557	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX4	HGNC	protein_coding	OTTHUMT00000394228.1	G	XM_166213		58956669	+1	no_errors	ENST00000227451	ensembl	human	known	70_37	silent	SNP	1.000	A
E2F7	144455	genome.wustl.edu	37	12	77436899	77436899	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr12:77436899G>A	ENST00000322886.7	-	7	1304	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	E2F7_ENST00000416496.2_Nonsense_Mutation_p.R357*	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	357					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TTACGACCTCGCTCTTCTGTT	0.458																																																	0													207.0	177.0	187.0					12																	77436899		2203	4300	6503	SO:0001587	stop_gained	144455			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1069C>T	12.37:g.77436899G>A	ENSP00000323246:p.Arg357*		A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Nonsense_Mutation	SNP	pfam_E2F_TDP	p.R357*	ENST00000322886.7	37	c.1069	CCDS9016.1	12	.	.	.	.	.	.	.	.	.	.	G	40	8.233657	0.98719	.	.	ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669	.	.	.	5.95	5.04	0.67666	.	0.054138	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2017	13.1547	0.59509	0.0:0.0:0.7096:0.2904	.	.	.	.	X	357	.	ENSP00000323246:R357X	R	-	1	2	E2F7	75961030	0.946000	0.32159	0.982000	0.44146	0.996000	0.88848	1.543000	0.36147	1.462000	0.47948	0.563000	0.77884	CGA	E2F7	-	pfam_E2F_TDP		0.458	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F7	HGNC	protein_coding	OTTHUMT00000406716.1	G	XM_084871		77436899	-1	no_errors	ENST00000322886	ensembl	human	known	70_37	nonsense	SNP	0.996	A
PLD1	5337	genome.wustl.edu	37	3	171510212	171510212	+	Intron	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr3:171510212C>T	ENST00000351298.4	-	1	96				PLD1_ENST00000342215.6_Intron|PLD1_ENST00000340989.4_Intron|PLD1_ENST00000497307.1_Intron|PP13439_ENST00000331659.2_Silent_p.Q129Q|PLD1_ENST00000356327.5_Intron	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific						chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTCTTATATTCTGGGAATGCA	0.527																																					NSCLC(149;2174 3517 34058)												0																																										SO:0001627	intron_variant	0			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.30+17976G>A	3.37:g.171510212C>T				Silent	SNP	NULL	p.Q129	ENST00000351298.4	37	c.387	CCDS3216.1	3																																																																																			PP13439	-	NULL		0.527	PLD1-001	KNOWN	basic|CCDS	protein_coding	ENSG00000183657	Uniprot_genename	protein_coding	OTTHUMT00000346730.2	C	NM_002662		171510212	-1	no_errors	ENST00000331659	ensembl	human	known	70_37	silent	SNP	0.003	T
RNASE11	122651	genome.wustl.edu	37	14	21052653	21052653	+	5'UTR	SNP	C	C	G	rs374640565		TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr14:21052653C>G	ENST00000610205.1	-	0	164				RNASE11_ENST00000398009.2_5'UTR|RNASE11_ENST00000432835.2_5'UTR|RNASE11_ENST00000555283.1_Missense_Mutation_p.R45T|RNASE11_ENST00000555841.1_5'UTR|RNASE11_ENST00000398008.2_5'UTR|RNASE11_ENST00000553849.1_5'UTR	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)							extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		AGTGTAATCTCTTCTGCAGTA	0.408																																																	0													39.0	38.0	38.0					14																	21052653		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"""Ribonucleases, RNase A"""	19269	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 6"""	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.-20G>C	14.37:g.21052653C>G				RNA	SNP	-	NULL	ENST00000610205.1	37	NULL	CCDS9553.1	14																																																																																			AL163195.3	-	-		0.408	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000259060	Clone_based_vega_gene	protein_coding	OTTHUMT00000073662.3	C	NM_145250		21052653	-1	no_errors	ENST00000555283	ensembl	human	known	70_37	rna	SNP	0.000	G
DNM1P47	100216544	genome.wustl.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C	rs199967915	byFrequency	TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818									DNM1 pseudogene 47																		CACAGCGGCGTGACGAGACTC	0.587																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304772T>C				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			CTD-2611K5.6	-	-		0.587	DNM1P47-001	KNOWN	basic	processed_transcript	ENSG00000259660	Clone_based_vega_gene	pseudogene	OTTHUMT00000417589.1	T	NG_009149		102304772	+1	no_errors	ENST00000561463	ensembl	human	known	70_37	rna	SNP	0.984	C
DNM1P47	100216544	genome.wustl.edu	37	15	102304941	102304941	+	RNA	SNP	A	A	G	rs202159560	byFrequency	TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr15:102304941A>G	ENST00000561463.1	+	0	12987									DNM1 pseudogene 47																		TCATCTTCTCAGAGCTGCTGT	0.597																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304941A>G				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			CTD-2611K5.6	-	-		0.597	DNM1P47-001	KNOWN	basic	processed_transcript	ENSG00000259660	Clone_based_vega_gene	pseudogene	OTTHUMT00000417589.1	A	NG_009149		102304941	+1	no_errors	ENST00000561463	ensembl	human	known	70_37	rna	SNP	0.989	G
RP11-1166P10.1	0	genome.wustl.edu	37	16	31993369	31993371	+	RNA	DEL	CTC	CTC	-	rs541688076|rs60539163	byFrequency	TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr16:31993369_31993371delCTC	ENST00000568570.1	+	0	179_181																											TCGTGGACATCTCCTACAGCGAG	0.695														10	0.00199681	0.0015	0.0	5008	,	,		8569	0.002		0.001	False		,,,				2504	0.0051																0																																												0																															16.37:g.31993369_31993371delCTC				RNA	DEL	-	NULL	ENST00000568570.1	37	NULL		16																																																																																			RP11-1166P10.1	-	-		0.695	RP11-1166P10.1-002	KNOWN	basic	processed_transcript	ENSG00000260628	Clone_based_vega_gene	pseudogene	OTTHUMT00000432457.1	CTC			31993371	+1	no_errors	ENST00000568570	ensembl	human	known	70_37	rna	DEL	1.000:1.000:1.000	-
Unknown	0	genome.wustl.edu	37	GL000220.1	118253	118253	+	IGR	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chrGL000220.1:118253C>T								None (None upstream) : None (None downstream)																							ggggcgcggccggagaggcgg	0.756																																																	0																																										SO:0001628	intergenic_variant	0																															GL000220.1.37:g.118253C>T				RNA	SNP	-	NULL		37	NULL		GL000220.1																																																																																			AL592188.3	-	-	0	0.756					ENSG00000263544	Clone_based_ensembl_gene			C			118253	+1	no_errors	ENST00000582153	ensembl	human	known	70_37	rna	SNP	NULL	T
CAPN12	147968	genome.wustl.edu	37	19	39229440	39229440	+	Intron	SNP	G	G	C			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr19:39229440G>C	ENST00000328867.4	-	6	1038				CAPN12_ENST00000601953.1_Intron|CTD-2540F13.2_ENST00000602255.1_RNA	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12						proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GTTAGTGACTGAAGGCGAAag	0.567																																																	0																																										SO:0001627	intron_variant	0			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.730-152C>G	19.37:g.39229440G>C				RNA	SNP	-	NULL	ENST00000328867.4	37	NULL	CCDS12519.1	19																																																																																			CTD-2540F13.2	-	-		0.567	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267892	Clone_based_vega_gene	protein_coding	OTTHUMT00000462151.1	G			39229440	+1	no_errors	ENST00000602255	ensembl	human	known	70_37	rna	SNP	0.001	C
ENTPD4	9583	genome.wustl.edu	37	8	23294733	23294733	+	Missense_Mutation	SNP	G	G	A	rs372875344		TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr8:23294733G>A	ENST00000358689.4	-	10	1323	c.1088C>T	c.(1087-1089)cCg>cTg	p.P363L	ENTPD4_ENST00000356206.6_Missense_Mutation_p.P355L|ENTPD4_ENST00000521321.1_5'Flank|ENTPD4_ENST00000417069.2_Missense_Mutation_p.P355L	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	363					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GTCCAAGTACGGCATATCAGG	0.468																																																	0								G	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	101.0	82.0	89.0		1064,1088	5.6	0.3	8		89	0,8600		0,0,4300	no	missense,missense	ENTPD4	NM_001128930.2,NM_004901.4	98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	355/609,363/617	23294733	1,13005	2203	4300	6503	SO:0001583	missense	9583			AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1088C>T	8.37:g.23294733G>A	ENSP00000351520:p.Pro363Leu		D3DSS3|O15092	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.P363L	ENST00000358689.4	37	c.1088	CCDS6041.1	8	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154778	0.57259	2.27E-4	0.0	ENSG00000197217	ENST00000356206;ENST00000358689;ENST00000417069	T;T;T	0.10288	2.89;2.89;2.89	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.14700	0.0355	M	0.67569	2.06	0.80722	D	1	P;P;P	0.50710	0.894;0.938;0.806	B;B;B	0.40444	0.273;0.329;0.313	T	0.13845	-1.0494	10	0.16420	T	0.52	-15.4523	18.0994	0.89500	0.0:0.0:1.0:0.0	.	355;355;363	Q8NE73;Q9Y227-2;Q9Y227	.;.;ENTP4_HUMAN	L	355;363;355	ENSP00000348536:P355L;ENSP00000351520:P363L;ENSP00000408573:P355L	ENSP00000348536:P355L	P	-	2	0	ENTPD4	23350678	1.000000	0.71417	0.311000	0.25182	0.363000	0.29612	7.632000	0.83247	2.624000	0.88883	0.313000	0.20887	CCG	ENTPD4	-	pfam_GDA1_CD39_NTPase		0.468	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	ENTPD4	HGNC	protein_coding	OTTHUMT00000215142.1	G	NM_004901		23294733	-1	no_errors	ENST00000358689	ensembl	human	known	70_37	missense	SNP	0.999	A
EPHB4	2050	genome.wustl.edu	37	7	100401197	100401197	+	Silent	SNP	G	G	A			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr7:100401197G>A	ENST00000358173.3	-	17	3318	c.2850C>T	c.(2848-2850)atC>atT	p.I950I	EPHB4_ENST00000360620.3_Silent_p.I898I	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	950	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GAGTGACTCCGATTCGGAGCA	0.617																																					GBM(200;2113 3072 25865 52728)												0													33.0	34.0	33.0					7																	100401197		2203	4300	6503	SO:0001819	synonymous_variant	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2850C>T	7.37:g.100401197G>A			B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I950	ENST00000358173.3	37	c.2850	CCDS5706.1	7																																																																																			EPHB4	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_SAM		0.617	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB4	HGNC	protein_coding	OTTHUMT00000347222.1	G	NM_004444		100401197	-1	no_errors	ENST00000358173	ensembl	human	known	70_37	silent	SNP	0.984	A
ERBB4	2066	genome.wustl.edu	37	2	212248368	212248368	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr2:212248368G>A	ENST00000342788.4	-	28	4209	c.3899C>T	c.(3898-3900)cCt>cTt	p.P1300L	ERBB4_ENST00000402597.1_Missense_Mutation_p.P1290L|ERBB4_ENST00000436443.1_Missense_Mutation_p.P1284L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1300					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GTGTCTGTAAGGTGGAGGCGG	0.517										TSP Lung(8;0.080)																																							0													64.0	68.0	66.0					2																	212248368		2203	4300	6503	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3899C>T	2.37:g.212248368G>A	ENSP00000342235:p.Pro1300Leu		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P1300L	ENST00000342788.4	37	c.3899	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226633	0.79576	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.83335	-1.66;-1.71;-1.68	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.90058	0.6895	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.996	D	0.90352	0.4367	10	0.87932	D	0	.	19.39	0.94576	0.0:0.0:1.0:0.0	.	1274;1290;1284;1300	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	L	1300;1284;1290	ENSP00000342235:P1300L;ENSP00000403204:P1284L;ENSP00000385565:P1290L	ENSP00000342235:P1300L	P	-	2	0	ERBB4	211956613	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.263000	0.95617	2.812000	0.96745	0.557000	0.71058	CCT	ERBB4	-	NULL		0.517	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	G	NM_001042599		212248368	-1	no_errors	ENST00000342788	ensembl	human	known	70_37	missense	SNP	1.000	A
EVX1	2128	genome.wustl.edu	37	7	27282233	27282233	+	5'UTR	SNP	C	C	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr7:27282233C>G	ENST00000496902.4	+	0	70				RP1-170O19.17_ENST00000523608.2_lincRNA|EVX1_ENST00000222761.3_5'Flank|EVX1-AS_ENST00000519218.1_RNA|EVX1-AS_ENST00000519050.1_RNA|EVX1_ENST00000535619.1_5'Flank|EVX1-AS_ENST00000517726.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1						embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CCTCCCCAATCGAGCGAGGCC	0.537											OREG0003749	type=REGULATORY REGION|Gene=EVX1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0																																										SO:0001623	5_prime_UTR_variant	101410536				CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"""Homeoboxes / ANTP class : HOXL subclass"""	3506	protein-coding gene	gene with protein product		142996	"""eve, even-skipped homeobox homolog 1 (Drosophila)"""			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.-417C>G	7.37:g.27282233C>G		793	A4D199|B4DQJ0	RNA	SNP	-	NULL	ENST00000496902.4	37	NULL	CCDS5413.1	7																																																																																			EVX1-AS	-	-		0.537	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVX1-AS	HGNC	protein_coding	OTTHUMT00000358750.3	C			27282233	-1	no_errors	ENST00000519050	ensembl	human	known	70_37	rna	SNP	1.000	G
EXOC3	11336	genome.wustl.edu	37	5	446336	446336	+	Missense_Mutation	SNP	C	C	T	rs376575084		TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr5:446336C>T	ENST00000512944.1	+	2	205	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	EXOC3_ENST00000315013.5_Missense_Mutation_p.R6W|EXOC3_ENST00000510441.1_3'UTR	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	17					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGAGACAGACCGGGAGGCCGT	0.567																																																	0								C	TRP/ARG	1,3995		0,1,1997	82.0	84.0	83.0		16	2.3	1.0	5		83	0,8336		0,0,4168	no	missense	EXOC3	NM_007277.4	101	0,1,6165	TT,TC,CC		0.0,0.025,0.0081	probably-damaging	6/746	446336	1,12331	1998	4168	6166	SO:0001583	missense	11336			BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.16C>T	5.37:g.446336C>T	ENSP00000425587:p.Arg6Trp		Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	pfam_Sec6	p.R6W	ENST00000512944.1	37	c.16	CCDS54830.1	5	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032766	0.75504	2.5E-4	0.0	ENSG00000180104	ENST00000512944;ENST00000508022;ENST00000315013;ENST00000340158	T;T	0.08807	3.05;3.05	5.29	2.33	0.28932	.	0.104412	0.64402	N	0.000007	T	0.14917	0.0360	L	0.38175	1.15	0.52501	D	0.999952	D	0.76494	0.999	P	0.59546	0.859	T	0.00961	-1.1499	10	0.72032	D	0.01	-20.7014	11.8551	0.52433	0.5938:0.4062:0.0:0.0	.	17	O60645	EXOC3_HUMAN	W	6;6;6;16	ENSP00000425587:R6W;ENSP00000323377:R6W	ENSP00000323377:R6W	R	+	1	2	EXOC3	499336	0.891000	0.30450	0.998000	0.56505	0.986000	0.74619	0.451000	0.21779	0.595000	0.29777	-0.158000	0.13435	CGG	EXOC3	-	NULL		0.567	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3	HGNC	protein_coding	OTTHUMT00000367882.1	C	NM_007277		446336	+1	no_errors	ENST00000315013	ensembl	human	known	70_37	missense	SNP	1.000	T
FAF1	11124	genome.wustl.edu	37	1	51032844	51032844	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:51032844G>T	ENST00000396153.2	-	13	1624	c.1173C>A	c.(1171-1173)tgC>tgA	p.C391*	FAF1_ENST00000545823.1_Nonsense_Mutation_p.C149*|FAF1_ENST00000371778.4_Nonsense_Mutation_p.C391*|FAF1_ENST00000472808.1_5'UTR	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	391					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		GCATTTGTGAGCAGAACACGT	0.383																																																	1	Whole gene deletion(1)	thyroid(1)											94.0	95.0	95.0					1																	51032844		2203	4299	6502	SO:0001587	stop_gained	11124			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1173C>A	1.37:g.51032844G>T	ENSP00000379457:p.Cys391*		Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Nonsense_Mutation	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.C391*	ENST00000396153.2	37	c.1173	CCDS554.1	1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248430	0.59103	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	.	.	.	5.87	4.01	0.46588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.1459	9.2503	0.37551	0.2715:0.0:0.7285:0.0	.	.	.	.	X	391;391;149;231;239	.	ENSP00000360843:C391X	C	-	3	2	FAF1	50805432	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.940000	0.56599	0.947000	0.37659	-0.140000	0.14226	TGC	FAF1	-	smart_UAS		0.383	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	HGNC	protein_coding	OTTHUMT00000021807.1	G	NM_007051		51032844	-1	no_errors	ENST00000371778	ensembl	human	known	70_37	nonsense	SNP	1.000	T
FAM46A	55603	genome.wustl.edu	37	6	82459782	82459782	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr6:82459782G>A	ENST00000320172.6	-	3	1273	c.959C>T	c.(958-960)tCc>tTc	p.S320F	FAM46A_ENST00000369756.3_Missense_Mutation_p.S401F|FAM46A_ENST00000369754.3_Missense_Mutation_p.S339F	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	320					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		GAAAAACCTGGAACACATATA	0.488																																																	0													65.0	67.0	66.0					6																	82459782		2203	4300	6503	SO:0001583	missense	55603			AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"""chromosome 6 open reading frame 37"""	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.959C>T	6.37:g.82459782G>A	ENSP00000318298:p.Ser320Phe		A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Missense_Mutation	SNP	pfam_DUF1693	p.S401F	ENST00000320172.6	37	c.1202	CCDS34489.1	6	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973749	0.74246	.	.	ENSG00000112773	ENST00000369754;ENST00000320172;ENST00000369756	T;T;T	0.36878	1.23;1.23;1.23	5.95	5.95	0.96441	Domain of unknown function DUF1693 (1);	0.000000	0.85682	D	0.000000	T	0.66733	0.2819	M	0.90870	3.155	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.83275	0.996;0.994	T	0.73139	-0.4077	10	0.87932	D	0	-22.5547	20.3931	0.98965	0.0:0.0:1.0:0.0	.	320;339	Q96IP4;Q96IP4-2	FA46A_HUMAN;.	F	339;320;401	ENSP00000358769:S339F;ENSP00000318298:S320F;ENSP00000358771:S401F	ENSP00000318298:S320F	S	-	2	0	FAM46A	82516501	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	TCC	FAM46A	-	pfam_DUF1693		0.488	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM46A	HGNC	protein_coding	OTTHUMT00000041331.1	G			82459782	-1	no_errors	ENST00000369756	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM69A	388650	genome.wustl.edu	37	1	93309452	93309452	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:93309452G>A	ENST00000370310.4	-	5	845	c.775C>T	c.(775-777)Cag>Tag	p.Q259*	SNORA51_ENST00000384295.1_RNA	NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN	family with sequence similarity 69, member A	259						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		GTGAACAGCTGATCCATGCTT	0.413																																																	0													123.0	99.0	106.0					1																	93309452		692	1591	2283	SO:0001587	stop_gained	388650			AK027146	CCDS44173.1, CCDS72822.1, CCDS72823.1, CCDS72824.1, CCDS72825.1	1p22	2014-06-25			ENSG00000154511	ENSG00000154511			32213	protein-coding gene	gene with protein product		614542				21334309	Standard	NM_001006605		Approved	FLJ23493	uc001dpg.3	Q5T7M9	OTTHUMG00000010894	ENST00000370310.4:c.775C>T	1.37:g.93309452G>A	ENSP00000359333:p.Gln259*		Q6IRV2	Nonsense_Mutation	SNP	pfam_Uncharacterised_FAM69	p.Q259*	ENST00000370310.4	37	c.775	CCDS44173.1	1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700897	0.88924	.	.	ENSG00000154511	ENST00000370310	.	.	.	5.82	5.82	0.92795	.	0.050370	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-6.0577	19.6964	0.96028	0.0:0.0:1.0:0.0	.	.	.	.	X	259	.	ENSP00000359333:Q259X	Q	-	1	0	FAM69A	93082040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.748000	0.94277	0.655000	0.94253	CAG	FAM69A	-	pfam_Uncharacterised_FAM69		0.413	FAM69A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM69A	HGNC	protein_coding	OTTHUMT00000030046.2	G	NM_001006605		93309452	-1	no_errors	ENST00000370310	ensembl	human	known	70_37	nonsense	SNP	1.000	A
FAM92A1	137392	genome.wustl.edu	37	8	94740501	94740503	+	In_Frame_Del	DEL	AGA	AGA	-	rs147392141	byFrequency	TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr8:94740501_94740503delAGA	ENST00000518322.1	+	9	987_989	c.846_848delAGA	c.(844-849)acagaa>aca	p.E285del	FAM92A1_ENST00000517718.1_In_Frame_Del_p.E130del|FAM92A1_ENST00000423990.2_In_Frame_Del_p.E247del|RBM12B_ENST00000520961.1_5'Flank|FAM92A1_ENST00000520363.1_3'UTR	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	285										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TAGATGTTACAGAAGAAGAAAAT	0.305														177	0.0353435	0.1271	0.013	5008	,	,		16990	0.0		0.0	False		,,,				2504	0.0																0										400,3152		26,348,1402						5.2	1.0		dbSNP_134	93	7,7819		0,7,3906	no	coding	FAM92A1	NM_145269.3		26,355,5308	A1A1,A1R,RR		0.0894,11.2613,3.5771				407,10971				SO:0001651	inframe_deletion	137392				CCDS47892.1, CCDS64933.1	8q22.1	2005-09-22			ENSG00000188343	ENSG00000188343			30452	protein-coding gene	gene with protein product						12477932	Standard	XM_005250783		Approved	FLJ38979	uc022ayd.1	A1XBS5	OTTHUMG00000164238	ENST00000518322.1:c.846_848delAGA	8.37:g.94740507_94740509delAGA	ENSP00000429367:p.Glu285del		A1XBS4|Q32ND3|Q6AHW7|Q8N8R1|Q96L09	In_Frame_Del	DEL	pfam_FAM92	p.E285in_frame_del	ENST00000518322.1	37	c.846_848	CCDS47892.1	8																																																																																			FAM92A1	-	NULL		0.305	FAM92A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM92A1	HGNC	protein_coding	OTTHUMT00000377890.4	AGA	NM_145269		94740503	+1	no_errors	ENST00000518322	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-
FBXW7	55294	genome.wustl.edu	37	4	153249384	153249384	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr4:153249384C>T	ENST00000281708.4	-	9	2623	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	FBXW7_ENST00000603841.1_Missense_Mutation_p.R465H|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385H|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465H|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289H|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347H	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGCATACAACGCACAGTGGA	0.408			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	114	Substitution - Missense(113)|Unknown(1)	haematopoietic_and_lymphoid_tissue(40)|large_intestine(39)|endometrium(24)|lung(5)|ovary(4)|cervix(1)|biliary_tract(1)											253.0	218.0	230.0					4																	153249384		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1394G>A	4.37:g.153249384C>T	ENSP00000281708:p.Arg465His		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R465H	ENST00000281708.4	37	c.1394	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.178201	0.94846	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.05	6.05	0.98169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	L	0.56124	1.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.62469	-0.6848	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:1.0:0.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	H	465;347;385;289	ENSP00000281708:R465H;ENSP00000296555:R347H;ENSP00000263981:R385H;ENSP00000377528:R289H	ENSP00000263981:R385H	R	-	2	0	FBXW7	153468834	1.000000	0.71417	0.960000	0.40013	0.996000	0.88848	7.818000	0.86416	2.878000	0.98634	0.650000	0.86243	CGT	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.408	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	C			153249384	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	T
GAP43	2596	genome.wustl.edu	37	3	115395319	115395319	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr3:115395319G>A	ENST00000305124.6	+	2	856	c.490G>A	c.(490-492)Gag>Aag	p.E164K	GAP43_ENST00000393780.3_Missense_Mutation_p.E200K	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	164					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AGCCAAGGAGGAGCCTAAACA	0.602																																																	0													31.0	32.0	32.0					3																	115395319		2203	4296	6499	SO:0001583	missense	2596				CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.490G>A	3.37:g.115395319G>A	ENSP00000305010:p.Glu164Lys		A8K0Y4	Missense_Mutation	SNP	pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Neuromodulin	p.E164K	ENST00000305124.6	37	c.490	CCDS33830.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.481448	0.96307	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.51817	0.69;0.69	5.97	5.97	0.96955	Neuromodulin (GAP-43), C-terminal (1);	0.049902	0.85682	D	0.000000	T	0.69061	0.3069	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.988	T	0.63708	-0.6576	10	0.37606	T	0.19	-15.9761	20.4387	0.99107	0.0:0.0:1.0:0.0	.	200;164	A8K0Y4;P17677	.;NEUM_HUMAN	K	164;200	ENSP00000305010:E164K;ENSP00000377372:E200K	ENSP00000305010:E164K	E	+	1	0	GAP43	116878009	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.352000	0.79404	2.836000	0.97738	0.655000	0.94253	GAG	GAP43	-	pfam_Neuromodulin_C		0.602	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAP43	HGNC	protein_coding	OTTHUMT00000258216.2	G	NM_002045		115395319	+1	no_errors	ENST00000305124	ensembl	human	known	70_37	missense	SNP	1.000	A
GNAI3	2773	genome.wustl.edu	37	1	110128893	110128893	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:110128893G>A	ENST00000369851.4	+	6	756	c.646G>A	c.(646-648)Gag>Aag	p.E216K		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	216					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		TCACTGTTTTGAGGGAGTGAC	0.453																																																	0													292.0	235.0	255.0					1																	110128893		2203	4300	6503	SO:0001583	missense	2773			M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.646G>A	1.37:g.110128893G>A	ENSP00000358867:p.Glu216Lys		P17539|Q5TZX1	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA	p.E216K	ENST00000369851.4	37	c.646	CCDS802.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.278936	0.95489	.	.	ENSG00000065135	ENST00000369851	D	0.90004	-2.6	5.02	4.08	0.47627	.	0.046302	0.85682	D	0.000000	D	0.92057	0.7483	M	0.89785	3.06	0.80722	D	1	P	0.37824	0.609	P	0.49085	0.6	D	0.93262	0.6644	10	0.87932	D	0	.	15.0743	0.72066	0.0:0.143:0.857:0.0	.	216	P08754	GNAI3_HUMAN	K	216	ENSP00000358867:E216K	ENSP00000358867:E216K	E	+	1	0	GNAI3	109930416	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.190000	0.43042	0.585000	0.79938	GAG	GNAI3	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su		0.453	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI3	HGNC	protein_coding	OTTHUMT00000032222.1	G	NM_006496		110128893	+1	no_errors	ENST00000369851	ensembl	human	known	70_37	missense	SNP	1.000	A
GPR98	84059	genome.wustl.edu	37	5	89943530	89943530	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr5:89943530G>T	ENST00000405460.2	+	17	3334	c.3238G>T	c.(3238-3240)Ggt>Tgt	p.G1080C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1080	Calx-beta 8. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAATGAAGATGGTATCCCGGA	0.368																																																	0													129.0	125.0	126.0					5																	89943530		1861	4096	5957	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3238G>T	5.37:g.89943530G>T	ENSP00000384582:p.Gly1080Cys		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.G1080C	ENST00000405460.2	37	c.3238	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.20|14.20	2.465158|2.465158	0.43839|0.43839	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|.	0.30714|.	1.52|.	5.64|5.64	3.87|3.87	0.44632|0.44632	Na-Ca exchanger/integrin-beta4 (2);|.	0.281256|.	0.44688|.	D|.	0.000431|.	T|T	0.55752|0.55752	0.1940|0.1940	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	D|.	0.64830|.	0.994|.	P|.	0.62298|.	0.9|.	T|T	0.49173|0.49173	-0.8967|-0.8967	10|5	0.72032|.	D|.	0.01|.	.|.	12.17|12.17	0.54152|0.54152	0.1384:0.0:0.8616:0.0|0.1384:0.0:0.8616:0.0	.|.	1080|.	Q8WXG9|.	GPR98_HUMAN|.	C|L	1080|668	ENSP00000384582:G1080C|.	ENSP00000296619:G1080C|.	G|W	+|+	1|2	0|0	GPR98|GPR98	89979286|89979286	1.000000|1.000000	0.71417|0.71417	0.880000|0.880000	0.34516|0.34516	0.072000|0.072000	0.16883|0.16883	3.669000|3.669000	0.54561|0.54561	0.749000|0.749000	0.32854|0.32854	-0.145000|-0.145000	0.13849|0.13849	GGT|TGG	GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.368	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		89943530	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	T
HDHD1	8226	genome.wustl.edu	37	X	7023797	7023797	+	Silent	SNP	C	C	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chrX:7023797C>G	ENST00000381077.5	-	2	220	c.144G>C	c.(142-144)ctG>ctC	p.L48L	HDHD1_ENST00000540122.1_Silent_p.L48L|HDHD1_ENST00000412827.2_Silent_p.L48L|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000424830.2_Silent_p.L71L	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	48					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						TACCCATAACCAGGGACTTTA	0.433																																																	0													62.0	55.0	57.0					X																	7023797		1873	4102	5975	SO:0001819	synonymous_variant	8226			M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"""family with sequence similarity 16, member A, X-linked"", ""haloacid dehalogenase-like hydrolase domain containing 1A"""	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.144G>C	X.37:g.7023797C>G			B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Silent	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3	p.L71	ENST00000381077.5	37	c.213	CCDS48075.1	X																																																																																			HDHD1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom		0.433	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDHD1	HGNC	protein_coding	OTTHUMT00000055683.2	C	NM_012080		7023797	-1	no_errors	ENST00000424830	ensembl	human	known	70_37	silent	SNP	0.011	G
HERC2	8924	genome.wustl.edu	37	15	28422657	28422657	+	Splice_Site	SNP	T	T	C			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr15:28422657T>C	ENST00000261609.7	-	60	9272		c.e60-2			NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCGGCCACCTGCAACATTCA	0.512																																																	0													60.0	53.0	56.0					15																	28422657		2203	4300	6503	SO:0001630	splice_region_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.9164-2A>G	15.37:g.28422657T>C				Splice_Site	SNP	-	e59-2	ENST00000261609.7	37	c.9164-2	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	T	26.3	4.728379	0.89390	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3429	0.83101	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERC2	26096252	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.698000	0.74608	2.256000	0.74724	0.523000	0.50628	.	HERC2	-	-		0.512	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	T	NM_004667	Intron	28422657	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	splice_site	SNP	1.000	C
HILPDA	29923	genome.wustl.edu	37	7	128097963	128097964	+	3'UTR	INS	-	-	A	rs376818816		TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr7:128097963_128097964insA	ENST00000257696.4	+	0	842_843				RP11-212P7.3_ENST00000462662.1_RNA|RP11-155G14.6_ENST00000493710.1_RNA|HILPDA_ENST00000435296.2_3'UTR|HILPDA_ENST00000481454.1_3'UTR	NM_001098786.1|NM_013332.3	NP_001092256.1|NP_037464.1	Q9Y5L2	HLPDA_HUMAN	hypoxia inducible lipid droplet-associated						autocrine signaling (GO:0035425)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of lipid storage (GO:0010884)|response to stress (GO:0006950)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|secretory granule (GO:0030141)	receptor binding (GO:0005102)										gactccatctcaaaaaaaaaag	0.53																																																	0																																										SO:0001624	3_prime_UTR_variant	29923			AF144755	CCDS5802.1	7q32.1	2011-11-02	2011-11-02	2011-11-02	ENSG00000135245	ENSG00000135245			28859	protein-coding gene	gene with protein product	"""hypoxia inducible gene 2"""		"""chromosome 7 open reading frame 68"""	C7orf68		10690527, 15930302	Standard	NM_001098786		Approved	FLJ21076, HIG-2, HIG2	uc010lli.3	Q9Y5L2	OTTHUMG00000157712	ENST00000257696.4:c.*450->A	7.37:g.128097973_128097973dupA			A4D0Z5|Q52LY5|Q53HJ7	RNA	INS	-	NULL	ENST00000257696.4	37	NULL	CCDS5802.1	7																																																																																			HILPDA	-	-		0.530	HILPDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HILPDA	HGNC	protein_coding	OTTHUMT00000349450.1	-	NM_013332		128097964	+1	no_errors	ENST00000466473	ensembl	human	known	70_37	rna	INS	0.010:0.015	A
HIST1H4E	8367	genome.wustl.edu	37	6	26205150	26205150	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr6:26205150G>C	ENST00000360441.4	+	1	293	c.278G>C	c.(277-279)aGa>aCa	p.R93T		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	93					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.R93T(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GCGCTGAAGAGACAGGGACGC	0.537																																																	1	Substitution - Missense(1)	lung(1)											129.0	111.0	117.0					6																	26205150		2203	4300	6503	SO:0001583	missense	8367			Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.278G>C	6.37:g.26205150G>C	ENSP00000353624:p.Arg93Thr		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.R93T	ENST00000360441.4	37	c.278	CCDS4593.1	6	.	.	.	.	.	.	.	.	.	.	.	15.29	2.790267	0.50102	.	.	ENSG00000198518	ENST00000360441	T	0.68624	-0.34	2.2	2.2	0.27929	.	0.000000	0.85682	U	0.000000	T	0.68016	0.2955	.	.	.	0.48632	D	0.999683	.	.	.	.	.	.	T	0.73783	-0.3874	7	0.72032	D	0.01	.	12.403	0.55424	0.0:0.0:1.0:0.0	.	.	.	.	T	93	ENSP00000353624:R93T	ENSP00000353624:R93T	R	+	2	0	HIST1H4E	26313129	1.000000	0.71417	0.692000	0.30179	0.004000	0.04260	9.201000	0.95017	1.521000	0.48983	0.655000	0.94253	AGA	HIST1H4E	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_TAF_TATA-bd,prints_Histone_H4		0.537	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4E	HGNC	protein_coding	OTTHUMT00000040104.1	G	NM_003545		26205150	+1	no_errors	ENST00000360441	ensembl	human	known	70_37	missense	SNP	1.000	C
ICA1L	130026	genome.wustl.edu	37	2	203651476	203651476	+	Intron	DEL	T	T	-	rs398105205	byFrequency	TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr2:203651476delT	ENST00000392237.2	-	13	1401				ICA1L_ENST00000358299.2_Intron	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like											breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						acatgcatgattttttttttt	0.308																																																	0																																										SO:0001627	intron_variant	130026			AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"""	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.1244-746A>-	2.37:g.203651476delT			B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Frame_Shift_Del	DEL	pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom	p.K422fs	ENST00000392237.2	37	c.1266	CCDS2354.1	2																																																																																			ICA1L	-	pfam_Islet_autoAg_Ica1_C		0.308	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICA1L	HGNC	protein_coding	OTTHUMT00000256330.1	T	NM_138468		203651476	-1	no_errors	ENST00000438804	ensembl	human	known	70_37	frame_shift_del	DEL	0.002	-
HTR2B	3357	genome.wustl.edu	37	2	231973557	231973557	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr2:231973557C>T	ENST00000258400.3	-	4	1632	c.1120G>A	c.(1120-1122)Gga>Aga	p.G374R	PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000409643.1_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	374					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	GGATTCACTCCTGAGGAAACA	0.393																																					Ovarian(155;1331 1891 12853 14038 34991)												0													93.0	97.0	95.0					2																	231973557		2203	4300	6503	SO:0001583	missense	3357				CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5294	protein-coding gene	gene with protein product		601122	"""5-hydroxytryptamine (serotonin) receptor 2B"""			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.1120G>A	2.37:g.231973557C>T	ENSP00000258400:p.Gly374Arg		B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2B_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.G374R	ENST00000258400.3	37	c.1120	CCDS2483.1	2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904743	0.92035	.	.	ENSG00000135914	ENST00000258400	T	0.37752	1.18	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70525	-0.4848	10	0.56958	D	0.05	.	20.2787	0.98501	0.0:1.0:0.0:0.0	.	189;374	B3VRC5;P41595	.;5HT2B_HUMAN	R	374	ENSP00000258400:G374R	ENSP00000258400:G374R	G	-	1	0	HTR2B	231681801	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.798000	0.96311	0.650000	0.86243	GGA	HTR2B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.393	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2B	HGNC	protein_coding	OTTHUMT00000256957.2	C	NM_000867		231973557	-1	no_errors	ENST00000258400	ensembl	human	known	70_37	missense	SNP	1.000	T
IRX4	50805	genome.wustl.edu	37	5	1879705	1879705	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr5:1879705C>T	ENST00000505790.1	-	5	1105	c.649G>A	c.(649-651)Gag>Aag	p.E217K	IRX4_ENST00000231357.2_Missense_Mutation_p.E217K|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Missense_Mutation_p.E217K	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	217					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GGCCGCTTCTCGTCTGCGCAC	0.677																																																	0													44.0	42.0	43.0					5																	1879705		2202	4300	6502	SO:0001583	missense	50805			AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.649G>A	5.37:g.1879705C>T	ENSP00000423161:p.Glu217Lys		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.E217K	ENST00000505790.1	37	c.649	CCDS3867.1	5	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892342	0.72524	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692	T;T;T	0.68903	-0.36;-0.36;-0.36	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	L	0.49126	1.545	0.80722	D	1	D	0.56746	0.977	P	0.44394	0.448	T	0.70995	-0.4720	10	0.62326	D	0.03	-17.9595	15.4132	0.74943	0.0:1.0:0.0:0.0	.	217	P78413	IRX4_HUMAN	K	217	ENSP00000231357:E217K;ENSP00000423161:E217K;ENSP00000424235:E217K	ENSP00000231357:E217K	E	-	1	0	IRX4	1932705	1.000000	0.71417	0.912000	0.35992	0.287000	0.27160	7.181000	0.77682	2.156000	0.67533	0.462000	0.41574	GAG	IRX4	-	NULL		0.677	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	IRX4	HGNC	protein_coding	OTTHUMT00000365500.1	C	NM_016358		1879705	-1	no_errors	ENST00000231357	ensembl	human	known	70_37	missense	SNP	0.998	T
JMY	133746	genome.wustl.edu	37	5	78610439	78610439	+	Silent	SNP	T	T	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr5:78610439T>G	ENST00000396137.4	+	9	2886	c.2424T>G	c.(2422-2424)ccT>ccG	p.P808P	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	808	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CCCCTCTTCCTccaacaccac	0.537																																																	0													110.0	103.0	105.0					5																	78610439		1888	4107	5995	SO:0001819	synonymous_variant	133746			AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2424T>G	5.37:g.78610439T>G			A1L4P5|B5MDS2|B5MDT0	Silent	SNP	pfscan_WH2_dom	p.P808	ENST00000396137.4	37	c.2424	CCDS4047.3	5																																																																																			JMY	-	NULL		0.537	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMY	HGNC	protein_coding	OTTHUMT00000254070.4	T	NM_152405		78610439	+1	no_errors	ENST00000396137	ensembl	human	known	70_37	silent	SNP	0.178	G
KCNH7	90134	genome.wustl.edu	37	2	163693182	163693182	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr2:163693182C>G	ENST00000332142.5	-	2	271	c.172G>C	c.(172-174)Gat>Cat	p.D58H	KCNH7_ENST00000328032.4_Missense_Mutation_p.D58H	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	58	PAS.				circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGCATGACATCTGGCCTGGAG	0.468																																					GBM(196;1492 2208 17507 24132 45496)												0													97.0	80.0	86.0					2																	163693182		2203	4300	6503	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.172G>C	2.37:g.163693182C>G	ENSP00000331727:p.Asp58His		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.D58H	ENST00000332142.5	37	c.172	CCDS2219.1	2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432422	0.83776	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99582	-6.22;-6.22	5.87	4.98	0.66077	PAS fold-3 (1);PAS (2);	0.049736	0.85682	D	0.000000	D	0.99408	0.9791	L	0.55103	1.725	0.53005	D	0.999968	D;D	0.89917	0.998;1.0	P;D	0.81914	0.906;0.995	D	0.98786	1.0734	10	0.87932	D	0	.	15.3698	0.74554	0.1403:0.8597:0.0:0.0	.	58;58	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	H	58	ENSP00000331727:D58H;ENSP00000333781:D58H	ENSP00000333781:D58H	D	-	1	0	KCNH7	163401428	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	1.449000	0.47699	0.655000	0.94253	GAT	KCNH7	-	pfam_PAS_fold_3,tigrfam_PAS		0.468	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	HGNC	protein_coding	OTTHUMT00000255093.1	C	NM_033272		163693182	-1	no_errors	ENST00000332142	ensembl	human	known	70_37	missense	SNP	1.000	G
ICE1	23379	genome.wustl.edu	37	5	5462874	5462874	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr5:5462874G>C	ENST00000296564.7	+	13	3649	c.3427G>C	c.(3427-3429)Gtg>Ctg	p.V1143L		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1143					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGTAGCCGAGGTGAGACCTTC	0.453																																																	0													73.0	71.0	72.0					5																	5462874		1980	4174	6154	SO:0001583	missense	23379																														ENST00000296564.7:c.3427G>C	5.37:g.5462874G>C	ENSP00000296564:p.Val1143Leu		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.V1143L	ENST00000296564.7	37	c.3427	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	g	9.438	1.087427	0.20390	.	.	ENSG00000164151	ENST00000296564	T	0.10477	2.87	5.12	-10.2	0.00374	.	.	.	.	.	T	0.03608	0.0103	N	0.08118	0	0.09310	N	1	B	0.21452	0.056	B	0.16289	0.015	T	0.38887	-0.9640	9	0.23891	T	0.37	-0.1219	6.7247	0.23350	0.2743:0.0907:0.5449:0.0901	.	1143	Q9Y2F5	K0947_HUMAN	L	1143	ENSP00000296564:V1143L	ENSP00000296564:V1143L	V	+	1	0	KIAA0947	5515874	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.898000	0.04105	-2.123000	0.00823	-0.755000	0.03482	GTG	KIAA0947	-	NULL		0.453	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	G			5462874	+1	no_errors	ENST00000296564	ensembl	human	known	70_37	missense	SNP	0.000	C
KIF1B	23095	genome.wustl.edu	37	1	10384953	10384953	+	Splice_Site	SNP	G	G	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:10384953G>T	ENST00000377086.1	+	26	2877	c.2675G>T	c.(2674-2676)aGc>aTc	p.S892I	KIF1B_ENST00000263934.6_Splice_Site_p.S846I|KIF1B_ENST00000377081.1_Splice_Site_p.S892I			O60333	KIF1B_HUMAN	kinesin family member 1B	892					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CTTGTGGGGAGGTATGTGATG	0.398																																																	0													166.0	157.0	160.0					1																	10384953		2203	4300	6503	SO:0001630	splice_region_variant	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2675+1G>T	1.37:g.10384953G>T			A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S846I	ENST00000377086.1	37	c.2537		1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709174	0.68615	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.78246	-1.16;-1.16;-1.16	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.78660	0.4318	N	0.08118	0	0.80722	D	1	B;B;D;D;D;D	0.69078	0.258;0.111;0.997;0.986;0.996;0.994	B;B;D;P;D;P	0.83275	0.159;0.081;0.996;0.673;0.985;0.808	T	0.79874	-0.1619	10	0.34782	T	0.22	.	20.1438	0.98071	0.0:0.0:1.0:0.0	.	878;852;892;866;892;846	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	I	892;846;892;892	ENSP00000263934:S846I;ENSP00000366290:S892I;ENSP00000366284:S892I	ENSP00000263934:S846I	S	+	2	0	KIF1B	10307540	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.768000	0.95171	0.650000	0.86243	AGC	KIF1B	-	pfam_KIF1B		0.398	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	G		Missense_Mutation	10384953	+1	no_errors	ENST00000263934	ensembl	human	known	70_37	missense	SNP	1.000	T
KIFAP3	22920	genome.wustl.edu	37	1	170001164	170001165	+	Intron	INS	-	-	A			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:170001164_170001165insA	ENST00000361580.2	-	8	970				KIFAP3_ENST00000538366.1_Intron|KIFAP3_ENST00000367767.1_Intron|KIFAP3_ENST00000367765.1_Intron	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCATTGAAGCAAAAAAAATCT	0.287																																																	0																																										SO:0001627	intron_variant	22920			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.743-39->T	1.37:g.170001172_170001172dupA			B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	RNA	INS	-	NULL	ENST00000361580.2	37	NULL	CCDS1288.1	1																																																																																			KIFAP3	-	-		0.287	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFAP3	HGNC	protein_coding	OTTHUMT00000087568.1	-	NM_014970		170001165	-1	no_errors	ENST00000474292	ensembl	human	putative	70_37	rna	INS	0.000:0.049	A
KIF21B	23046	genome.wustl.edu	37	1	200942677	200942677	+	IGR	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:200942677C>T	ENST00000422435.2	-	0	5519				KIF21B_ENST00000332129.2_3'UTR|KIF21B_ENST00000461742.2_Missense_Mutation_p.R1615Q|KIF21B_ENST00000360529.5_Missense_Mutation_p.R1602Q	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGGTAACCGCCGGACACTCCA	0.647																																																	0																																										SO:0001628	intergenic_variant	23046			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787		1.37:g.200942677C>T			B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.R1615Q	ENST00000422435.2	37	c.4844	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.792246	0.70452	.	.	ENSG00000116852	ENST00000360529;ENST00000461742	T;T	0.06449	3.3;3.3	4.74	4.74	0.60224	.	.	.	.	.	T	0.20129	0.0484	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.61201	0.885;0.885	T	0.00521	-1.1691	8	0.42905	T	0.14	.	15.4956	0.75646	0.0:1.0:0.0:0.0	.	1602;1615	B7ZMI0;B2RP62	.;.	Q	1602;1615	ENSP00000353724:R1602Q;ENSP00000433808:R1615Q	ENSP00000353724:R1602Q	R	-	2	0	KIF21B	199209300	1.000000	0.71417	0.940000	0.37924	0.135000	0.20990	5.061000	0.64319	2.168000	0.68352	0.655000	0.94253	CGG	KIF21B	-	pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.647	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	C	XM_371332		200942677	-1	no_errors	ENST00000461742	ensembl	human	putative	70_37	missense	SNP	0.996	T
KLHL12	59349	genome.wustl.edu	37	1	202897624	202897624	+	5'Flank	SNP	G	G	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:202897624G>T	ENST00000367261.3	-	0	0				KLHL12_ENST00000435533.3_Missense_Mutation_p.F18L	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12						COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGGTACTGAGGAACTTTTTGA	0.493																																																	0																																										SO:0001631	upstream_gene_variant	59349			AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385		1.37:g.202897624G>T	Exception_encountered		A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.F18L	ENST00000367261.3	37	c.54	CCDS1429.1	1	.	.	.	.	.	.	.	.	.	.	g	9.861	1.196325	0.22037	.	.	ENSG00000117153	ENST00000435533;ENST00000367258	T;T	0.66995	-0.24;-0.22	3.04	1.1	0.20463	.	.	.	.	.	T	0.43612	0.1255	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21075	-1.0256	8	0.09590	T	0.72	.	9.5842	0.39506	0.1455:0.0:0.8545:0.0	.	18	B7Z7B8	.	L	18	ENSP00000416886:F18L;ENSP00000356227:F18L	ENSP00000356227:F18L	F	-	3	2	KLHL12	201164247	0.007000	0.16637	0.001000	0.08648	0.000000	0.00434	0.322000	0.19576	0.033000	0.15463	-1.811000	0.00612	TTC	KLHL12	-	pirsf_Kelch-like_gigaxonin		0.493	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL12	HGNC	protein_coding	OTTHUMT00000099151.1	G	NM_021633		202897624	-1	no_errors	ENST00000435533	ensembl	human	known	70_37	missense	SNP	0.001	T
KIAA1804	84451	genome.wustl.edu	37	1	233518245	233518245	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:233518245C>T	ENST00000366624.3	+	10	3160	c.2899C>T	c.(2899-2901)Cag>Tag	p.Q967*	MLK4_ENST00000366622.1_Nonsense_Mutation_p.Q413*	NM_032435.2	NP_115811.2																					AGCAGTGTCTCAGCTGGCACA	0.577																																																	0													100.0	85.0	90.0					1																	233518245		2203	4300	6503	SO:0001587	stop_gained	84451																														ENST00000366624.3:c.2899C>T	1.37:g.233518245C>T	ENSP00000355583:p.Gln967*			Nonsense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.Q967*	ENST00000366624.3	37	c.2899	CCDS1598.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.898490	0.98551	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	.	.	.	4.77	2.74	0.32292	.	3.010980	0.01005	N	0.003741	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	5.5107	0.16878	0.3009:0.5939:0.0:0.1051	.	.	.	.	X	967;413	.	ENSP00000355581:Q413X	Q	+	1	0	RP5-862P8.2	231584868	0.001000	0.12720	0.001000	0.08648	0.052000	0.14988	0.814000	0.27239	1.228000	0.43614	0.563000	0.77884	CAG	MLK4	-	pirsf_MAPKKK9/10/11		0.577	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1804	Uniprot_genename	protein_coding	OTTHUMT00000092495.1	C			233518245	+1	no_errors	ENST00000366624	ensembl	human	known	70_37	nonsense	SNP	0.000	T
KLHL38	340359	genome.wustl.edu	37	8	124664263	124664263	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr8:124664263C>T	ENST00000325995.7	-	1	927	c.904G>A	c.(904-906)Gtc>Atc	p.V302I	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	302								p.V302F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TACAGTAGGACGTCCCTGGTG	0.552																																																	1	Substitution - Missense(1)	lung(1)											97.0	101.0	99.0					8																	124664263		2039	4193	6232	SO:0001583	missense	340359				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.904G>A	8.37:g.124664263C>T	ENSP00000321475:p.Val302Ile		A0PK12	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V302I	ENST00000325995.7	37	c.904	CCDS43766.1	8	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224344	0.58668	.	.	ENSG00000175946	ENST00000325995	T	0.66815	-0.23	5.18	5.18	0.71444	Kelch-type beta propeller (1);	0.052539	0.85682	D	0.000000	T	0.73860	0.3641	M	0.85197	2.74	0.46416	D	0.999032	D	0.57257	0.979	P	0.44597	0.454	T	0.77792	-0.2455	10	0.38643	T	0.18	.	19.0609	0.93093	0.0:1.0:0.0:0.0	.	302	Q2WGJ6	KLH38_HUMAN	I	302	ENSP00000321475:V302I	ENSP00000321475:V302I	V	-	1	0	KLHL38	124733444	1.000000	0.71417	0.714000	0.30535	0.385000	0.30292	7.729000	0.84864	2.571000	0.86741	0.561000	0.74099	GTC	KLHL38	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.552	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL38	HGNC	protein_coding	OTTHUMT00000381288.1	C			124664263	-1	no_errors	ENST00000325995	ensembl	human	known	70_37	missense	SNP	0.998	T
LGI1	9211	genome.wustl.edu	37	10	95518033	95518033	+	Silent	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr10:95518033C>T	ENST00000371418.4	+	1	392	c.132C>T	c.(130-132)gcC>gcT	p.A44A	LGI1_ENST00000542308.1_Silent_p.A44A|LGI1_ENST00000371413.3_Silent_p.A44A|LGI1_ENST00000478763.1_3'UTR	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	44	LRRNT.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AATGCCCTGCCGTGTGTACTT	0.458																																																	0													165.0	165.0	165.0					10																	95518033		2203	4300	6503	SO:0001819	synonymous_variant	9211			AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.132C>T	10.37:g.95518033C>T			A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Silent	SNP	pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.A44	ENST00000371418.4	37	c.132	CCDS7431.1	10																																																																																			LGI1	-	NULL		0.458	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI1	HGNC	protein_coding	OTTHUMT00000049445.1	C	NM_005097		95518033	+1	no_errors	ENST00000371418	ensembl	human	known	70_37	silent	SNP	0.991	T
LIPH	200879	genome.wustl.edu	37	3	185252608	185252608	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr3:185252608G>C	ENST00000296252.4	-	2	503	c.362C>G	c.(361-363)tCt>tGt	p.S121C	LIPH_ENST00000424591.2_Missense_Mutation_p.S121C	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	121					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GGTCTTACTAGAGGCATGGGT	0.388																																																	0													81.0	80.0	80.0					3																	185252608		2203	4300	6503	SO:0001583	missense	200879			AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.362C>G	3.37:g.185252608G>C	ENSP00000296252:p.Ser121Cys		A2IBA7|Q8TEC7	Missense_Mutation	SNP	pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.S121C	ENST00000296252.4	37	c.362	CCDS3272.1	3	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365286	0.41902	.	.	ENSG00000163898	ENST00000296252;ENST00000424591	D;D	0.91180	-2.73;-2.8	5.79	5.79	0.91817	Lipase, N-terminal (1);	0.452491	0.25610	N	0.029489	D	0.94384	0.8194	M	0.69358	2.11	0.25355	N	0.988838	D;P	0.64830	0.994;0.86	D;P	0.62955	0.909;0.852	D	0.89062	0.3463	10	0.54805	T	0.06	-9.441	19.0001	0.92830	0.0:0.0:1.0:0.0	.	121;121	A2IBA6;Q8WWY8	.;LIPH_HUMAN	C	121	ENSP00000296252:S121C;ENSP00000396384:S121C	ENSP00000296252:S121C	S	-	2	0	LIPH	186735302	0.129000	0.22400	0.030000	0.17652	0.016000	0.09150	2.785000	0.47782	2.718000	0.92993	0.655000	0.94253	TCT	LIPH	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH		0.388	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPH	HGNC	protein_coding	OTTHUMT00000345153.1	G			185252608	-1	no_errors	ENST00000296252	ensembl	human	known	70_37	missense	SNP	0.603	C
GOLGA2P9	440518	genome.wustl.edu	37	19	22786023	22786023	+	RNA	SNP	C	C	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr19:22786023C>G	ENST00000599738.1	+	0	0				RN7SL860P_ENST00000473738.2_RNA|CTC-457E21.3_ENST00000600260.1_RNA|AC011467.1_ENST00000408863.1_RNA																							CTCCAAAGATCTTTGCCAGGT	0.617																																																	0																																												440518																															19.37:g.22786023C>G				RNA	SNP	-	NULL	ENST00000599738.1	37	NULL		19																																																																																			CTC-457E21.3	-	-		0.617	CTC-457E21.6-001	KNOWN	basic|readthrough_transcript	processed_transcript	LOC440518	Clone_based_vega_gene	processed_transcript	OTTHUMT00000464575.1	C			22786023	+1	no_errors	ENST00000600260	ensembl	human	known	70_37	rna	SNP	0.338	G
FAM230B	642633	genome.wustl.edu	37	22	21538466	21538466	+	RNA	SNP	C	C	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr22:21538466C>G	ENST00000451257.1	+	0	1452									family with sequence similarity 230, member B (non-protein coding)																		AACGAGGACGCCGCCCACGGA	0.721																																																	0																																												642633			BC039313, AK128837		22q11.21	2014-01-24	2014-01-06		ENSG00000215498	ENSG00000215498			32943	non-coding RNA	RNA, long non-coding			"""family with sequence similarity 230, member B"""				Standard	NR_108107		Approved	FLJ46366			OTTHUMG00000150782		22.37:g.21538466C>G				RNA	SNP	-	NULL	ENST00000451257.1	37	NULL		22																																																																																			KB-1183D5.11	-	-		0.721	FAM230B-002	KNOWN	basic	lincRNA	LOC642633	Clone_based_vega_gene	processed_transcript	OTTHUMT00000320063.1	C	NR_108107		21538466	+1	no_errors	ENST00000451257	ensembl	human	known	70_37	rna	SNP	0.035	G
MAP4K5	11183	genome.wustl.edu	37	14	50907112	50907112	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr14:50907112G>A	ENST00000013125.4	-	22	1930	c.1612C>T	c.(1612-1614)Ctc>Ttc	p.L538F		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	538	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					AGCTCATTGAGATTCAGTGTG	0.284																																																	0													111.0	102.0	105.0					14																	50907112		1854	4095	5949	SO:0001583	missense	11183			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.1612C>T	14.37:g.50907112G>A	ENSP00000013125:p.Leu538Phe		Q8IYF6	Missense_Mutation	SNP	pfam_Citron,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,smart_Citron,pfscan_Prot_kinase_cat_dom	p.L538F	ENST00000013125.4	37	c.1612		14	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163436	0.78226	.	.	ENSG00000012983	ENST00000013125	T	0.05996	3.36	5.16	5.16	0.70880	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.27524	0.0676	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.998	T	0.01146	-1.1437	10	0.62326	D	0.03	.	12.8583	0.57899	0.0859:0.0:0.9141:0.0	.	212;538;538	B3KWC4;B2R928;Q9Y4K4	.;.;M4K5_HUMAN	F	538	ENSP00000013125:L538F	ENSP00000013125:L538F	L	-	1	0	MAP4K5	49976862	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.517000	0.60503	2.551000	0.86045	0.460000	0.39030	CTC	MAP4K5	-	pfam_Citron,smart_Citron		0.284	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	MAP4K5	HGNC	protein_coding	OTTHUMT00000410880.1	G	NM_006575		50907112	-1	no_errors	ENST00000013125	ensembl	human	known	70_37	missense	SNP	1.000	A
MEP1A	4224	genome.wustl.edu	37	6	46793205	46793205	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr6:46793205G>C	ENST00000230588.4	+	8	762	c.753G>C	c.(751-753)gaG>gaC	p.E251D		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	251	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TTGATTTAGAGAGGCTGAACC	0.433																																																	0													98.0	89.0	92.0					6																	46793205		2203	4300	6503	SO:0001583	missense	4224				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.753G>C	6.37:g.46793205G>C	ENSP00000230588:p.Glu251Asp		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.E251D	ENST00000230588.4	37	c.753	CCDS4918.1	6	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254313	0.59212	.	.	ENSG00000112818	ENST00000230588	T	0.64618	-0.11	6.16	1.07	0.20283	Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.522079	0.22979	N	0.053321	T	0.35451	0.0932	L	0.35288	1.05	0.34822	D	0.738831	B;P	0.48998	0.372;0.918	B;P	0.49140	0.27;0.601	T	0.16600	-1.0397	10	0.12766	T	0.61	-16.1149	10.7728	0.46332	0.4907:0.0:0.5093:0.0	.	279;251	B7ZL91;Q16819	.;MEP1A_HUMAN	D	251	ENSP00000230588:E251D	ENSP00000230588:E251D	E	+	3	2	MEP1A	46901164	0.942000	0.31987	0.839000	0.33178	0.984000	0.73092	0.565000	0.23578	0.120000	0.18254	0.650000	0.86243	GAG	MEP1A	-	pfam_Peptidase_M12A,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A		0.433	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	HGNC	protein_coding	OTTHUMT00000040803.1	G	NM_005588		46793205	+1	no_errors	ENST00000230588	ensembl	human	known	70_37	missense	SNP	0.808	C
KMT2A	4297	genome.wustl.edu	37	11	118390460	118390461	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr11:118390460_118390461insC	ENST00000389506.5	+	32	11265_11266	c.11265_11266insC	c.(11266-11268)cccfs	p.P3756fs	KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.P3718fs|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000556583.1_RNA|KMT2A_ENST00000534358.1_Frame_Shift_Ins_p.P3759fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3756					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AGGCCAATGAACCCCCCTTGAA	0.5																																																	0																																										SO:0001589	frameshift_variant	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.11271dupC	11.37:g.118390466_118390466dupC	ENSP00000374157:p.Pro3756fs		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Ins	INS	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.N3758fs	ENST00000389506.5	37	c.11265_11266	CCDS31686.1	11																																																																																			MLL	-	pirsf_MeTrfase_trithorax		0.500	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	-	NM_005933		118390461	+1	no_errors	ENST00000389506	ensembl	human	known	70_37	frame_shift_ins	INS	0.991:1.000	C
MYH15	22989	genome.wustl.edu	37	3	108159942	108159942	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr3:108159942C>G	ENST00000273353.3	-	24	2937	c.2881G>C	c.(2881-2883)Gag>Cag	p.E961Q		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	961						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTCTTCAACTCAAAACATTCA	0.458																																																	0													175.0	174.0	174.0					3																	108159942		1979	4173	6152	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2881G>C	3.37:g.108159942C>G	ENSP00000273353:p.Glu961Gln			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.E961Q	ENST00000273353.3	37	c.2881	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271681	0.80469	.	.	ENSG00000144821	ENST00000273353	D	0.92752	-3.1	5.91	5.91	0.95273	.	.	.	.	.	D	0.93939	0.8060	M	0.83603	2.65	0.47153	D	0.999339	P	0.42518	0.782	B	0.43194	0.411	D	0.94220	0.7466	9	0.72032	D	0.01	.	20.2885	0.98538	0.0:1.0:0.0:0.0	.	961	Q9Y2K3	MYH15_HUMAN	Q	961	ENSP00000273353:E961Q	ENSP00000273353:E961Q	E	-	1	0	MYH15	109642632	0.997000	0.39634	0.867000	0.34043	0.921000	0.55340	4.067000	0.57527	2.791000	0.96007	0.650000	0.86243	GAG	MYH15	-	superfamily_Prefoldin		0.458	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	C	XM_036988		108159942	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	missense	SNP	1.000	G
NCF2	4688	genome.wustl.edu	37	1	183536404	183536404	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:183536404C>T	ENST00000367535.3	-	8	1041	c.790G>A	c.(790-792)Ggg>Agg	p.G264R	NCF2_ENST00000418089.1_Missense_Mutation_p.G183R|NCF2_ENST00000413720.1_Missense_Mutation_p.G219R|NCF2_ENST00000367536.1_Missense_Mutation_p.G264R	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	264	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	ACAATGTTCCCTGGCATGACC	0.537																																																	0													317.0	295.0	303.0					1																	183536404		2203	4300	6503	SO:0001583	missense	4688			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.790G>A	1.37:g.183536404C>T	ENSP00000356505:p.Gly264Arg		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_TPR-1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain	p.G264R	ENST00000367535.3	37	c.790	CCDS1356.1	1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899400	0.72754	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535;ENST00000419402	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;0.35	5.31	4.38	0.52667	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.86806	0.6021	M	0.91406	3.205	0.58432	D	0.999999	D;P;P	0.89917	1.0;0.777;0.878	D;B;P	0.97110	1.0;0.396;0.838	D	0.89102	0.3490	10	0.52906	T	0.07	-28.6997	15.1556	0.72739	0.1425:0.8575:0.0:0.0	.	183;219;264	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	R	264;336;219;183;264;3	ENSP00000356506:G264R;ENSP00000399294:G219R;ENSP00000407217:G183R;ENSP00000356505:G264R;ENSP00000406198:G3R	ENSP00000356505:G264R	G	-	1	0	NCF2	181803027	1.000000	0.71417	0.973000	0.42090	0.976000	0.68499	7.086000	0.76885	1.215000	0.43411	0.511000	0.50034	GGG	NCF2	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox		0.537	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF2	HGNC	protein_coding	OTTHUMT00000085483.1	C	NM_000433		183536404	-1	no_errors	ENST00000367535	ensembl	human	known	70_37	missense	SNP	0.999	T
NMT2	9397	genome.wustl.edu	37	10	15151806	15151806	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr10:15151806C>G	ENST00000378165.4	-	11	1451	c.1371G>C	c.(1369-1371)ttG>ttC	p.L457F	NMT2_ENST00000540259.1_Missense_Mutation_p.L269F|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.L444F|NMT2_ENST00000466201.1_5'UTR|NMT2_ENST00000535341.1_Missense_Mutation_p.L444F	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	457					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TATTTTCCATCAAATCCAGTG	0.328																																					Melanoma(117;1345 1645 4130 12688 30625)												0													116.0	116.0	116.0					10																	15151806		2203	4300	6503	SO:0001583	missense	9397			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1371G>C	10.37:g.15151806C>G	ENSP00000367407:p.Leu457Phe		B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.L488F	ENST00000378165.4	37	c.1464	CCDS7109.1	10	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320401	0.60634	.	.	ENSG00000152465	ENST00000441445;ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.52526	0.66	5.51	3.66	0.41972	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69682	0.3138	M	0.89030	3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71922	-0.4446	10	0.87932	D	0	-18.37	8.6025	0.33754	0.0:0.6887:0.0:0.3113	.	444;457	Q5VUC6;O60551	.;NMT2_HUMAN	F	21;457;444;488;269;444	ENSP00000367407:L457F	ENSP00000367385:L488F	L	-	3	2	NMT2	15191812	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	0.498000	0.22530	0.813000	0.34350	0.655000	0.94253	TTG	NMT2	-	pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase		0.328	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT2	HGNC	protein_coding	OTTHUMT00000046958.2	C	NM_004808		15151806	-1	no_errors	ENST00000378143	ensembl	human	known	70_37	missense	SNP	1.000	G
NOVA1	4857	genome.wustl.edu	37	14	26918010	26918011	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr14:26918010_26918011delGT	ENST00000539517.2	-	5	995_996	c.678_679delAC	c.(676-681)gaacctfs	p.EP226fs	NOVA1_ENST00000465357.2_Frame_Shift_Del_p.EP202fs|NOVA1_ENST00000267422.7_Frame_Shift_Del_p.EP104fs	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	229	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TTTTGTTCAGGTTCTCCACTCA	0.475																																																	0																																										SO:0001589	frameshift_variant	4857			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.678_679delAC	14.37:g.26918010_26918011delGT	ENSP00000438875:p.Glu226fs		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Frame_Shift_Del	DEL	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.E226fs	ENST00000539517.2	37	c.679_678	CCDS32061.1	14																																																																																			NOVA1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.475	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOVA1	HGNC	protein_coding	OTTHUMT00000073261.3	GT	NM_006491		26918011	-1	no_errors	ENST00000539517	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000	-
NOVA1	4857	genome.wustl.edu	37	14	26918012	26918013	+	Frame_Shift_Ins	INS	-	-	GACAACC	rs151215128|rs199792602		TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr14:26918012_26918013insGACAACC	ENST00000539517.2	-	5	993_994	c.676_677insGGTTGTC	c.(676-678)gaafs	p.E226fs	NOVA1_ENST00000465357.2_Frame_Shift_Ins_p.E202fs|NOVA1_ENST00000267422.7_Frame_Shift_Ins_p.E104fs	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	229	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TTGTTCAGGTTCTCCACTCACA	0.465																																																	0																																										SO:0001589	frameshift_variant	4857			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.676_677insGGTTGTC	14.37:g.26918012_26918013insGACAACC	ENSP00000438875:p.Glu226fs		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Frame_Shift_Ins	INS	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.E226fs	ENST00000539517.2	37	c.677_676	CCDS32061.1	14																																																																																			NOVA1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.465	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOVA1	HGNC	protein_coding	OTTHUMT00000073261.3	-	NM_006491		26918013	-1	no_errors	ENST00000539517	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	GACAACC
NOVA1	4857	genome.wustl.edu	37	14	26918015	26918015	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr14:26918015delC	ENST00000539517.2	-	5	991	c.674delG	c.(673-675)ggafs	p.G225fs	NOVA1_ENST00000465357.2_Frame_Shift_Del_p.G201fs|NOVA1_ENST00000267422.7_Frame_Shift_Del_p.G103fs	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	228	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TTCAGGTTCTCCACTCACAGT	0.473																																																	0													228.0	207.0	214.0					14																	26918015		2203	4300	6503	SO:0001589	frameshift_variant	4857			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.674delG	14.37:g.26918015delC	ENSP00000438875:p.Gly225fs		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Frame_Shift_Del	DEL	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.G225fs	ENST00000539517.2	37	c.674	CCDS32061.1	14																																																																																			NOVA1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.473	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOVA1	HGNC	protein_coding	OTTHUMT00000073261.3	C	NM_006491		26918015	-1	no_errors	ENST00000539517	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
NPIPA1	9284	genome.wustl.edu	37	16	15045687	15045687	+	Silent	SNP	C	C	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr16:15045687C>G	ENST00000328085.6	+	8	858	c.858C>G	c.(856-858)ctC>ctG	p.L286L	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2	Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1	286	Pro-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											ATGATAATCTCAAGACACCTG	0.532																																																	0													21.0	17.0	18.0					16																	15045687		1283	2256	3539	SO:0001819	synonymous_variant	9284			AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"""nuclear pore complex interacting protein"""	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000328085.6:c.858C>G	16.37:g.15045687C>G			O15102	Silent	SNP	pfam_NPIP	p.L286	ENST00000328085.6	37	c.858	CCDS10557.1	16																																																																																			NPIP	-	pfam_NPIP		0.532	NPIPA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NPIP	HGNC	protein_coding	OTTHUMT00000207326.2	C	NM_006985		15045687	+1	no_errors	ENST00000328085	ensembl	human	novel	70_37	silent	SNP	0.077	G
NUP98	4928	genome.wustl.edu	37	11	3740736	3740736	+	Missense_Mutation	SNP	G	G	C	rs556807510		TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr11:3740736G>C	ENST00000324932.7	-	18	2725	c.2305C>G	c.(2305-2307)Cta>Gta	p.L769V	NUP98_ENST00000359171.4_Missense_Mutation_p.L769V|NUP98_ENST00000397007.4_Missense_Mutation_p.L786V|NUP98_ENST00000397004.4_Missense_Mutation_p.L769V|NUP98_ENST00000355260.3_Missense_Mutation_p.L769V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	786	Peptidase S59. {ECO:0000255|PROSITE- ProRule:PRU00765}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TCCAAATTTAGATTTGTCAAA	0.338			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													85.0	83.0	83.0					11																	3740736		2201	4295	6496	SO:0001583	missense	4928			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.2305C>G	11.37:g.3740736G>C	ENSP00000316032:p.Leu769Val		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.L769V	ENST00000324932.7	37	c.2305	CCDS7746.1	11	.	.	.	.	.	.	.	.	.	.	G	18.96	3.732802	0.69189	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.37	4.43	0.53597	.	0.078972	0.52532	D	0.000064	T	0.48537	0.1505	L	0.39898	1.24	0.44976	D	0.997995	P;P;D;P	0.57571	0.899;0.899;0.98;0.933	B;B;P;P	0.51101	0.325;0.325;0.659;0.586	T	0.36720	-0.9736	9	0.13108	T	0.6	.	10.6602	0.45698	0.0927:0.0:0.9073:0.0	.	786;769;769;769	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	V	769;769;769;769;786	.	ENSP00000316032:L769V	L	-	1	2	NUP98	3697312	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.238000	0.32707	1.193000	0.43086	0.563000	0.77884	CTA	NUP98	-	pfam_Peptidase_S59,superfamily_Peptidase_S59		0.338	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	G	NM_016320		3740736	-1	no_errors	ENST00000324932	ensembl	human	known	70_37	missense	SNP	1.000	C
OR6C1	390321	genome.wustl.edu	37	12	55714417	55714417	+	Missense_Mutation	SNP	C	C	G	rs377179933		TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr12:55714417C>G	ENST00000379668.2	+	1	72	c.34C>G	c.(34-36)Ctt>Gtt	p.L12V		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						AGAGTTTATTCTTCTGGGATT	0.398																																																	0													66.0	68.0	67.0					12																	55714417		2203	4300	6503	SO:0001583	missense	390321			AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.34C>G	12.37:g.55714417C>G	ENSP00000368990:p.Leu12Val		B2RNM0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L12V	ENST00000379668.2	37	c.34	CCDS31818.1	12	.	.	.	.	.	.	.	.	.	.	c	15.42	2.828658	0.50845	.	.	ENSG00000205330	ENST00000379668	T	0.00563	6.58	5.21	5.21	0.72293	.	0.000000	0.52532	D	0.000069	T	0.03136	0.0092	M	0.92459	3.31	0.28750	N	0.901468	D	0.89917	1.0	D	0.91635	0.999	T	0.02138	-1.1207	10	0.87932	D	0	.	12.5507	0.56225	0.1664:0.8336:0.0:0.0	.	12	Q96RD1	OR6C1_HUMAN	V	12	ENSP00000368990:L12V	ENSP00000368990:L12V	L	+	1	0	OR6C1	54000684	0.674000	0.27549	0.839000	0.33178	0.754000	0.42855	1.234000	0.32660	2.706000	0.92434	0.455000	0.32223	CTT	OR6C1	-	NULL		0.398	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C1	HGNC	protein_coding	OTTHUMT00000398152.1	C	NM_001005182		55714417	+1	no_errors	ENST00000379668	ensembl	human	known	70_37	missense	SNP	0.909	G
ORC6	23594	genome.wustl.edu	37	16	46723632	46723632	+	Silent	SNP	G	G	C			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr16:46723632G>C	ENST00000219097.2	+	1	75	c.15G>C	c.(13-15)ctG>ctC	p.L5L	ORC6_ENST00000566860.1_5'Flank|ORC6_ENST00000568364.2_Silent_p.L5L|VPS35_ENST00000299138.7_5'Flank	NM_014321.3	NP_055136.1	Q9Y5N6	ORC6_HUMAN	origin recognition complex, subunit 6	5					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						GGTCGGAGCTGATCGGGCGCC	0.706																																																	0													11.0	12.0	11.0					16																	46723632		2188	4282	6470	SO:0001819	synonymous_variant	23594			AF139658	CCDS10722.1	16q12	2010-10-12	2010-10-12	2010-10-12	ENSG00000091651	ENSG00000091651			17151	protein-coding gene	gene with protein product		607213	"""origin recognition complex, subunit 6 homolog-like (yeast)"", ""origin recognition complex, subunit 6 like (yeast)"""	ORC6L		10945994	Standard	NM_014321		Approved		uc002eeh.3	Q9Y5N6	OTTHUMG00000132539	ENST00000219097.2:c.15G>C	16.37:g.46723632G>C			B3KN89	Silent	SNP	pfam_ORC6	p.L5	ENST00000219097.2	37	c.15	CCDS10722.1	16																																																																																			ORC6	-	NULL		0.706	ORC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC6	HGNC	protein_coding	OTTHUMT00000255739.3	G			46723632	+1	no_errors	ENST00000219097	ensembl	human	known	70_37	silent	SNP	0.000	C
PDGFRB	5159	genome.wustl.edu	37	5	149515391	149515391	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr5:149515391G>C	ENST00000261799.4	-	3	560	c.91C>G	c.(91-93)Cag>Gag	p.Q31E		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	31					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCAGGCCCTGAGAGATCTGT	0.587			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																			Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	0													32.0	32.0	32.0					5																	149515391		2203	4300	6503	SO:0001583	missense	5159			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.91C>G	5.37:g.149515391G>C	ENSP00000261799:p.Gln31Glu		B5A957|Q8N5L4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N	p.Q31E	ENST00000261799.4	37	c.91	CCDS4303.1	5	.	.	.	.	.	.	.	.	.	.	G	0.303	-0.972897	0.02215	.	.	ENSG00000113721	ENST00000261799;ENST00000517957	T;T	0.74737	-0.87;2.33	4.6	0.39	0.16275	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.028510	0.07752	N	0.948812	T	0.47655	0.1457	N	0.08118	0	0.09310	N	1	B;B	0.19331	0.035;0.002	B;B	0.19946	0.027;0.004	T	0.30736	-0.9968	10	0.18710	T	0.47	.	1.0549	0.01588	0.2098:0.177:0.4313:0.1819	.	31;31	B5A957;P09619	.;PGFRB_HUMAN	E	31	ENSP00000261799:Q31E;ENSP00000430715:Q31E	ENSP00000261799:Q31E	Q	-	1	0	PDGFRB	149495584	0.005000	0.15991	0.180000	0.23079	0.748000	0.42578	0.109000	0.15417	0.242000	0.21303	0.561000	0.74099	CAG	PDGFRB	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Ig-like		0.587	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	HGNC	protein_coding	OTTHUMT00000252332.1	G	NM_002609		149515391	-1	no_errors	ENST00000261799	ensembl	human	known	70_37	missense	SNP	0.004	C
PDZK1	5174	genome.wustl.edu	37	1	145747058	145747058	+	Silent	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:145747058C>T	ENST00000344770.2	+	2	88	c.15C>T	c.(13-15)ttC>ttT	p.F5F	PDZK1_ENST00000417171.1_Silent_p.F5F|PDZK1_ENST00000451928.2_Silent_p.F5F	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	5					carnitine transport (GO:0015879)|cell proliferation (GO:0008283)|drug transport (GO:0015893)|establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of ion transmembrane transport (GO:0034767)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of anion transport (GO:0044070)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|transporter activity (GO:0005215)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			CCTCCACCTTCAACCCCCGAG	0.443																																																	0													112.0	126.0	122.0					1																	145747058		2203	4300	6503	SO:0001819	synonymous_variant	5174			AF012281	CCDS72859.1, CCDS72860.1	1q21	2009-08-21			ENSG00000174827	ENSG00000174827			8821	protein-coding gene	gene with protein product		603831				9461128	Standard	NM_002614		Approved	PDZD1, NHERF3	uc001eoo.2	Q5T2W1	OTTHUMG00000013735	ENST00000344770.2:c.15C>T	1.37:g.145747058C>T			B4DPB9|E7EU02|O60450|Q5T5P6|Q9BQ41	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.F5	ENST00000344770.2	37	c.15	CCDS924.1	1																																																																																			PDZK1	-	superfamily_PDZ		0.443	PDZK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZK1	HGNC	protein_coding	OTTHUMT00000038502.2	C	NM_002614		145747058	+1	no_errors	ENST00000344770	ensembl	human	known	70_37	silent	SNP	0.832	T
PLCE1	51196	genome.wustl.edu	37	10	96043642	96043642	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr10:96043642G>C	ENST00000371380.3	+	20	5126	c.4891G>C	c.(4891-4893)Gat>Cat	p.D1631H	PLCE1-AS1_ENST00000440198.1_RNA|PLCE1_ENST00000260766.3_Missense_Mutation_p.D1631H|PLCE1-AS1_ENST00000596633.1_RNA|PLCE1_ENST00000371375.1_Missense_Mutation_p.D1323H|PLCE1-AS1_ENST00000425267.3_RNA|PLCE1_ENST00000371385.3_Missense_Mutation_p.D1323H			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1631					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAAGAAAGCAGATAACTCTGC	0.373																																																	0													114.0	112.0	113.0					10																	96043642		1873	4094	5967	SO:0001583	missense	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4891G>C	10.37:g.96043642G>C	ENSP00000360431:p.Asp1631His		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.D1631H	ENST00000371380.3	37	c.4891	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518518	0.85495	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.39	4.47	0.54385	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.201251	0.42172	D	0.000750	T	0.54271	0.1848	N	0.19112	0.55	0.42026	D	0.991001	D;D;D	0.76494	0.999;0.998;0.996	D;P;P	0.63033	0.91;0.907;0.873	T	0.57394	-0.7819	10	0.54805	T	0.06	.	13.5548	0.61754	0.076:0.0:0.924:0.0	.	1615;1323;1631	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	H	1631;1631;1323;1323	ENSP00000260766:D1631H;ENSP00000360431:D1631H;ENSP00000360438:D1323H;ENSP00000360426:D1323H	ENSP00000260766:D1631H	D	+	1	0	PLCE1	96033632	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.323000	0.79105	2.700000	0.92200	0.561000	0.74099	GAT	PLCE1	-	superfamily_PLC-like_Pdiesterase_TIM-brl		0.373	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	G	NM_016341		96043642	+1	no_errors	ENST00000371380	ensembl	human	known	70_37	missense	SNP	1.000	C
PLK5	126520	genome.wustl.edu	37	19	1529760	1529760	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr19:1529760C>T	ENST00000334770.4	+	10	1394	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	PLK5_ENST00000454744.2_Missense_Mutation_p.R169W			Q496M5	PLK5_HUMAN	polo-like kinase 5	169					cellular response to growth factor stimulus (GO:0071363)|defense response to tumor cell (GO:0002357)|G2 DNA damage checkpoint (GO:0031572)|mitotic nuclear division (GO:0007067)|positive regulation of neuron projection development (GO:0010976)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)										CGAGGGGAGCCGGCGGCCAGA	0.682																																																	0																																										SO:0001583	missense	126520			DQ424898	CCDS59328.1	19p13.3	2012-11-19	2011-07-14	2011-07-14	ENSG00000185988	ENSG00000185988			27001	protein-coding gene	gene with protein product			"""polo-like kinase 5 pseudogene"", ""polo-like kinase 5, pseudogene"""	PLK5P		21245385	Standard	NM_001243079		Approved	SgK384ps	uc002ltf.3	Q496M5	OTTHUMG00000180073	ENST00000334770.4:c.505C>T	19.37:g.1529760C>T	ENSP00000466248:p.Arg169Trp		B3KNR4|Q1ZYM0	Missense_Mutation	SNP	superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	p.R169W	ENST00000334770.4	37	c.505	CCDS59328.1	19																																																																																			PLK5	-	NULL		0.682	PLK5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLK5	HGNC	protein_coding	OTTHUMT00000449628.1	C	NR_026557		1529760	+1	no_errors	ENST00000334770	ensembl	human	known	70_37	missense	SNP	0.005	T
POU6F2	11281	genome.wustl.edu	37	7	39446223	39446223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr7:39446223C>T	ENST00000403058.1	+	7	1064	c.910C>T	c.(910-912)Cag>Tag	p.Q304*	POU6F2-AS1_ENST00000433519.1_RNA|POU6F2_ENST00000559001.1_Intron|POU6F2_ENST00000518318.2_Nonsense_Mutation_p.Q304*	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	304	Gln-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						ACTAGCAAGTCAGGCTGCAGC	0.532																																																	0													50.0	52.0	51.0					7																	39446223		2203	4300	6503	SO:0001587	stop_gained	11281			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.910C>T	7.37:g.39446223C>T	ENSP00000384004:p.Gln304*		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Nonsense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.Q304*	ENST00000403058.1	37	c.910	CCDS34620.2	7	.	.	.	.	.	.	.	.	.	.	C	39	7.560132	0.98358	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	.	.	.	6.17	6.17	0.99709	.	572.188000	0.00166	U	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	304	.	ENSP00000384004:Q304X	Q	+	1	0	POU6F2	39412748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.465000	0.80898	2.941000	0.99782	0.655000	0.94253	CAG	POU6F2	-	NULL		0.532	POU6F2-002	KNOWN	basic|CCDS	protein_coding	POU6F2	HGNC	protein_coding	OTTHUMT00000320146.3	C	NM_007252		39446223	+1	no_errors	ENST00000403058	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PPAP2B	8613	genome.wustl.edu	37	1	57002687	57002687	+	Silent	SNP	A	A	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:57002687A>G	ENST00000371250.3	-	2	788	c.237T>C	c.(235-237)acT>acC	p.T79T		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	79					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TTGTCTCACCAGTTTTCAGTG	0.527																																																	0													239.0	193.0	208.0					1																	57002687		2203	4300	6503	SO:0001819	synonymous_variant	8613			AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.237T>C	1.37:g.57002687A>G			B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Silent	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.T79	ENST00000371250.3	37	c.237	CCDS604.1	1																																																																																			PPAP2B	-	superfamily_P_Acid_Pase_2/haloperoxidase		0.527	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2B	HGNC	protein_coding	OTTHUMT00000022334.2	A	NM_003713		57002687	-1	no_errors	ENST00000371250	ensembl	human	known	70_37	silent	SNP	0.000	G
PPAPDC2	403313	genome.wustl.edu	37	9	4663041	4663041	+	Silent	SNP	G	G	C			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr9:4663041G>C	ENST00000381883.2	+	1	744	c.666G>C	c.(664-666)tcG>tcC	p.S222S	SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000223517.5_Intron|SPATA6L_ENST00000381895.5_Intron|SPATA6L_ENST00000454239.2_Intron	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain containing 2	222						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		CCCTGATGTCGAGGTTCATCC	0.632																																					Melanoma(187;1057 3809 8526)												0													98.0	80.0	86.0					9																	4663041		2203	4300	6503	SO:0001819	synonymous_variant	403313			AK128369	CCDS34981.1	9p24	2010-04-23			ENSG00000205808	ENSG00000205808			23682	protein-coding gene	gene with protein product	"""polyisoprenoid diphosphate phosphatase type 1"""	611666				16464866	Standard	NM_203453		Approved	FLJ90191, FLJ46512, PDP1	uc003zin.4	Q8IY26	OTTHUMG00000019466	ENST00000381883.2:c.666G>C	9.37:g.4663041G>C			B3KY05|Q5JVJ6|Q8NCK9	Silent	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.S222	ENST00000381883.2	37	c.666	CCDS34981.1	9																																																																																			PPAPDC2	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase		0.632	PPAPDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAPDC2	HGNC	protein_coding	OTTHUMT00000051567.1	G	NM_203453		4663041	+1	no_errors	ENST00000381883	ensembl	human	known	70_37	silent	SNP	0.003	C
PRDM16	63976	genome.wustl.edu	37	1	3328829	3328829	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:3328829G>A	ENST00000270722.5	+	9	2117	c.2068G>A	c.(2068-2070)Ggg>Agg	p.G690R	PRDM16_ENST00000441472.2_Missense_Mutation_p.G690R|PRDM16_ENST00000514189.1_Missense_Mutation_p.G691R|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.G690R|PRDM16_ENST00000511072.1_Missense_Mutation_p.G691R|PRDM16_ENST00000378391.2_Missense_Mutation_p.G690R|PRDM16_ENST00000378398.3_Missense_Mutation_p.G691R			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	690	Interaction with CTBP1 and CTBP2. {ECO:0000250}.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGGCGCCGCCGGGGACTCCAT	0.642			T	EVI1	"""MDS, AML"""																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													53.0	64.0	60.0					1																	3328829		2020	4166	6186	SO:0001583	missense	63976			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2068G>A	1.37:g.3328829G>A	ENSP00000270722:p.Gly690Arg		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.G690R	ENST00000270722.5	37	c.2068	CCDS41236.2	1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312573	0.23908	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.05319	3.48;3.5;3.51;3.51;3.5;3.5;3.51;3.47;3.46	4.73	2.7	0.31948	.	0.251599	0.25302	N	0.031658	T	0.04452	0.0122	L	0.36672	1.1	0.25899	N	0.983376	D;P;P;P	0.56035	0.974;0.951;0.792;0.918	B;B;B;B	0.39904	0.241;0.313;0.281;0.166	T	0.37934	-0.9684	10	0.42905	T	0.14	.	4.2689	0.10776	0.4548:0.0:0.5452:0.0	.	690;690;690;690	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	R	691;691;690;690;690;691;690;506;506;499	ENSP00000426975:G691R;ENSP00000367651:G691R;ENSP00000407968:G690R;ENSP00000405253:G690R;ENSP00000367643:G690R;ENSP00000421400:G691R;ENSP00000270722:G690R;ENSP00000422504:G506R;ENSP00000425796:G499R	ENSP00000270722:G690R	G	+	1	0	PRDM16	3318689	1.000000	0.71417	0.678000	0.29963	0.081000	0.17604	6.098000	0.71458	1.224000	0.43551	-0.199000	0.12753	GGG	PRDM16	-	NULL		0.642	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	G	NM_022114		3328829	+1	no_errors	ENST00000270722	ensembl	human	known	70_37	missense	SNP	0.776	A
PRKRIP1	79706	genome.wustl.edu	37	7	102004775	102004775	+	5'UTR	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr7:102004775C>T	ENST00000496391.1	+	0	432				RP11-163E9.2_ENST00000492837.1_RNA			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)						negative regulation of phosphorylation (GO:0042326)|negative regulation of protein kinase activity (GO:0006469)|renal system process (GO:0003014)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|lung(4)|ovary(1)	6						GAGGTGACCTCGCGAGCAGAC	0.711																																																	0																																										SO:0001623	5_prime_UTR_variant	79706			AK023964	CCDS34714.1	7q22.1	2013-01-09			ENSG00000128563	ENSG00000128563		"""Zinc fingers, C2H2-type"", ""-"""	21894	protein-coding gene	gene with protein product	"""likely ortholog of mouse C114 dsRNA-binding protein"", ""KRAB box domain containing 3"""					12679338	Standard	NM_024653		Approved	C114, FLJ13902, KRBOX3	uc003uzh.2	Q9H875	OTTHUMG00000157717	ENST00000496391.1:c.-879C>T	7.37:g.102004775C>T			B4DGM2|Q8NDM6|Q96CF8	RNA	SNP	-	NULL	ENST00000496391.1	37	NULL	CCDS34714.1	7																																																																																			PRKRIP1	-	-		0.711	PRKRIP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRKRIP1	HGNC	protein_coding	OTTHUMT00000349489.1	C	NM_024653		102004775	+1	no_errors	ENST00000469763	ensembl	human	known	70_37	rna	SNP	0.143	T
PTPDC1	138639	genome.wustl.edu	37	9	96850123	96850123	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr9:96850123A>G	ENST00000375360.3	+	4	605	c.265A>G	c.(265-267)Aat>Gat	p.N89D	PTPDC1_ENST00000288976.3_Missense_Mutation_p.N141D	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	89					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GGTCACTGATAATATACTGGC	0.473																																																	0													161.0	149.0	153.0					9																	96850123		2203	4300	6503	SO:0001583	missense	138639			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.265A>G	9.37:g.96850123A>G	ENSP00000364509:p.Asn89Asp		Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.N89D	ENST00000375360.3	37	c.265	CCDS6707.1	9	.	.	.	.	.	.	.	.	.	.	.	8.752	0.921577	0.17982	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.60040	0.22;0.22	6.02	3.66	0.41972	.	0.362937	0.35903	N	0.002918	T	0.42539	0.1207	L	0.31120	0.905	0.09310	N	1	B;B;B;B	0.17038	0.009;0.02;0.005;0.011	B;B;B;B	0.22880	0.012;0.042;0.025;0.01	T	0.20940	-1.0260	10	0.10377	T	0.69	-5.4286	12.5576	0.56263	0.7206:0.2794:0.0:0.0	.	143;141;143;89	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	D	89;141	ENSP00000364509:N89D;ENSP00000288976:N141D	ENSP00000288976:N141D	N	+	1	0	PTPDC1	95889944	0.235000	0.23794	0.002000	0.10522	0.968000	0.65278	1.625000	0.37029	0.509000	0.28195	0.533000	0.62120	AAT	PTPDC1	-	smart_Dual-sp_phosphatase_subgr_cat		0.473	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPDC1	HGNC	protein_coding	OTTHUMT00000215007.1	A	NM_177995, NM_152422		96850123	+1	no_errors	ENST00000375360	ensembl	human	known	70_37	missense	SNP	0.002	G
PRPF4	9128	genome.wustl.edu	37	9	116039003	116039003	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr9:116039003C>T	ENST00000374198.4	+	2	308	c.206C>T	c.(205-207)tCt>tTt	p.S69F	CDC26_ENST00000374206.3_5'Flank|CDC26_ENST00000490408.1_5'Flank|PRPF4_ENST00000374199.4_Missense_Mutation_p.S68F	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	69					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						AATATAACCTCTGGTAAGATG	0.383																																																	0													137.0	153.0	147.0					9																	116039003		2203	4300	6503	SO:0001583	missense	9128			AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.206C>T	9.37:g.116039003C>T	ENSP00000363313:p.Ser69Phe		O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_PRP4,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S69F	ENST00000374198.4	37	c.206	CCDS6791.1	9	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722562	0.68959	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.64260	-0.09;-0.04	5.97	5.97	0.96955	.	0.577475	0.18001	N	0.154896	T	0.60444	0.2269	L	0.48642	1.525	0.51482	D	0.999926	D;P	0.56035	0.974;0.907	P;P	0.45167	0.472;0.472	T	0.63829	-0.6548	10	0.66056	D	0.02	.	13.9152	0.63893	0.0:0.7531:0.2468:0.0	.	84;69	Q59EL4;O43172	.;PRP4_HUMAN	F	68;69	ENSP00000363315:S68F;ENSP00000363313:S69F	ENSP00000363313:S69F	S	+	2	0	PRPF4	115078824	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.051000	0.49885	2.838000	0.97847	0.561000	0.74099	TCT	PRPF4	-	NULL		0.383	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRPF4	HGNC	protein_coding	OTTHUMT00000053708.2	C	NM_004697		116039003	+1	no_errors	ENST00000374198	ensembl	human	known	70_37	missense	SNP	1.000	T
RELN	5649	genome.wustl.edu	37	7	103143563	103143563	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr7:103143563C>T	ENST00000428762.1	-	52	8548	c.8389G>A	c.(8389-8391)Gac>Aac	p.D2797N	RELN_ENST00000343529.5_Missense_Mutation_p.D2797N|RELN_ENST00000424685.2_Missense_Mutation_p.D2797N|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2797					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CATTTTGGGTCAGCAGGCAAG	0.438																																					NSCLC(146;835 1944 15585 22231 52158)												0													89.0	85.0	86.0					7																	103143563		2203	4300	6503	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8389G>A	7.37:g.103143563C>T	ENSP00000392423:p.Asp2797Asn		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.D2797N	ENST00000428762.1	37	c.8389	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042524	0.55003	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.20069	2.1;2.1;2.1	5.23	5.23	0.72850	Neuraminidase (3);	0.133483	0.56097	D	0.000037	T	0.15046	0.0363	N	0.19112	0.55	0.53005	D	0.999961	B;B	0.20052	0.041;0.001	B;B	0.23419	0.046;0.005	T	0.07385	-1.0775	10	0.31617	T	0.26	.	13.1617	0.59548	0.0:0.9236:0.0:0.0764	.	2797;2797	P78509-2;P78509	.;RELN_HUMAN	N	2797;2797;2797;314;2797	ENSP00000392423:D2797N;ENSP00000345694:D2797N;ENSP00000388446:D2797N	ENSP00000345694:D2797N	D	-	1	0	RELN	102930799	1.000000	0.71417	0.981000	0.43875	0.959000	0.62525	5.461000	0.66699	2.433000	0.82419	0.655000	0.94253	GAC	RELN	-	superfamily_Neuraminidase		0.438	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	C	NM_005045		103143563	-1	no_errors	ENST00000424685	ensembl	human	known	70_37	missense	SNP	0.999	T
RELN	5649	genome.wustl.edu	37	7	103270624	103270624	+	Splice_Site	SNP	C	C	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr7:103270624C>G	ENST00000428762.1	-	20	2625		c.e20-1		RELN_ENST00000424685.2_Splice_Site|RELN_ENST00000343529.5_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGAGATTATTCTAGAGAAAAA	0.338																																					NSCLC(146;835 1944 15585 22231 52158)												0													54.0	59.0	57.0					7																	103270624		2201	4300	6501	SO:0001630	splice_region_variant	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2466-1G>C	7.37:g.103270624C>G			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Splice_Site	SNP	-	e20-1	ENST00000428762.1	37	c.2466-1	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452565	0.63290	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RELN	103057860	1.000000	0.71417	0.999000	0.59377	0.728000	0.41692	7.030000	0.76484	2.814000	0.96858	0.591000	0.81541	.	RELN	-	-		0.338	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	C	NM_005045	Intron	103270624	-1	no_errors	ENST00000424685	ensembl	human	known	70_37	splice_site	SNP	1.000	G
REPS1	85021	genome.wustl.edu	37	6	139265136	139265136	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr6:139265136C>T	ENST00000450536.2	-	6	1344	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	REPS1_ENST00000415951.2_Missense_Mutation_p.R257Q|REPS1_ENST00000409812.2_Missense_Mutation_p.R257Q|REPS1_ENST00000258062.5_Missense_Mutation_p.R257Q|REPS1_ENST00000367663.4_Missense_Mutation_p.R257Q			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	257					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)	p.R205Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TGCTACAGTTCGTACTGTTGT	0.353																																																	1	Substitution - Missense(1)	large_intestine(1)											142.0	125.0	131.0					6																	139265136		2203	4300	6503	SO:0001583	missense	85021				CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.770G>A	6.37:g.139265136C>T	ENSP00000392065:p.Arg257Gln		B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.R257Q	ENST00000450536.2	37	c.770		6	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825803	0.90955	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.31769	1.49;1.49;1.52;1.52;1.48;1.49	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.33381	0.0861	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.999	D;D;P;D	0.79784	0.993;0.99;0.728;0.978	T	0.01557	-1.1325	10	0.13853	T	0.58	-10.7386	20.5211	0.99222	0.0:1.0:0.0:0.0	.	257;257;257;257	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	Q	257;257;243;257;257;257;205	ENSP00000392065:R257Q;ENSP00000356635:R257Q;ENSP00000434251:R243Q;ENSP00000386699:R257Q;ENSP00000258062:R257Q;ENSP00000397941:R257Q	ENSP00000258062:R257Q	R	-	2	0	REPS1	139306829	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.456000	0.80751	2.861000	0.98227	0.650000	0.86243	CGA	REPS1	-	NULL		0.353	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	REPS1	HGNC	protein_coding	OTTHUMT00000042447.3	C			139265136	-1	no_errors	ENST00000450536	ensembl	human	known	70_37	missense	SNP	1.000	T
RHD	6007	genome.wustl.edu	37	1	25633204	25633204	+	Missense_Mutation	SNP	G	G	A	rs200307239		TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:25633204G>A	ENST00000328664.4	+	7	1212	c.1057G>A	c.(1057-1059)Gga>Aga	p.G353R	RHD_ENST00000417538.2_Intron|RHD_ENST00000568195.1_Missense_Mutation_p.G353R|RHD_ENST00000423253.1_Intron|RHD_ENST00000423810.2_Missense_Mutation_p.G353R|RHD_ENST00000342055.5_Missense_Mutation_p.G353R|RHD_ENST00000454452.2_Intron|RHD_ENST00000357542.4_Missense_Mutation_p.G353R	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	353						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)	p.G353R(1)		breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGATACCGTCGGAGCCGGCAA	0.567																																																	1	Substitution - Missense(1)	breast(1)	GRCh37	CM973730	RHD	M							189.0	149.0	164.0					1																	25633204		2114	3745	5859	SO:0001583	missense	6007			AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.1057G>A	1.37:g.25633204G>A	ENSP00000331871:p.Gly353Arg		Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.G353R	ENST00000328664.4	37	c.1057	CCDS262.1	1	.	.	.	.	.	.	.	.	.	.	g	10.74	1.435826	0.25813	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000342055;ENST00000357542;ENST00000423810	T;T;T;T	0.22336	1.96;2.14;2.21;2.19	2.48	-2.35	0.06684	Ammonium transporter AmtB-like (3);	0.488542	0.16450	N	0.213895	T	0.21841	0.0526	L	0.39245	1.2	0.09310	N	1	B;P;D;B;B;B	0.76494	0.06;0.916;0.999;0.004;0.063;0.002	B;P;D;B;B;B	0.63793	0.011;0.47;0.918;0.0;0.022;0.003	T	0.15694	-1.0428	10	0.21014	T	0.42	1.8355	1.1113	0.01704	0.1877:0.1314:0.3831:0.2977	.	353;353;353;353;353;353	B4DLT8;Q5XLT1;Q5XLS9;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;RHD_HUMAN	R	353	ENSP00000331871:G353R;ENSP00000339577:G353R;ENSP00000350150:G353R;ENSP00000399640:G353R	ENSP00000331871:G353R	G	+	1	0	RHD	25505791	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.736000	0.04882	-1.229000	0.02564	-2.245000	0.00285	GGA	RHD	-	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like		0.567	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHD	HGNC	protein_coding	OTTHUMT00000009660.5	G	NM_016124		25633204	+1	no_errors	ENST00000328664	ensembl	human	known	70_37	missense	SNP	0.000	A
RIMBP3	85376	genome.wustl.edu	37	22	20457501	20457501	+	Silent	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr22:20457501C>T	ENST00000426804.1	-	1	4285	c.3801G>A	c.(3799-3801)ccG>ccA	p.P1267P	RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA|SCARNA17_ENST00000516762.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1267										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CCCCTGAACTCGGACATTCTC	0.597																																																	0													1.0	1.0	1.0					22																	20457501		17	45	62	SO:0001819	synonymous_variant	85376			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.3801G>A	22.37:g.20457501C>T			Q8IYP7|Q9BY94|Q9UFQ5	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain	p.P1267	ENST00000426804.1	37	c.3801	CCDS46665.1	22																																																																																			RIMBP3	-	NULL		0.597	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP3	HGNC	protein_coding	OTTHUMT00000318945.2	C	NM_015672		20457501	-1	no_errors	ENST00000426804	ensembl	human	known	70_37	silent	SNP	0.000	T
RNASE11	122651	genome.wustl.edu	37	14	21052552	21052552	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr14:21052552C>G	ENST00000610205.1	-	3	265	c.82G>C	c.(82-84)Gaa>Caa	p.E28Q	RNASE11_ENST00000398009.2_Missense_Mutation_p.E28Q|RNASE11_ENST00000432835.2_Missense_Mutation_p.E28Q|RNASE11_ENST00000555283.1_Missense_Mutation_p.E79Q|RNASE11_ENST00000555841.1_Missense_Mutation_p.E28Q|RNASE11_ENST00000398008.2_Missense_Mutation_p.E28Q|RNASE11_ENST00000553849.1_Missense_Mutation_p.E28Q	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	28						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		GTAAATTCTTCTTTAATTATC	0.403																																																	0													151.0	144.0	146.0					14																	21052552		2203	4300	6503	SO:0001583	missense	122651			BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"""Ribonucleases, RNase A"""	19269	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 6"""	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.82G>C	14.37:g.21052552C>G	ENSP00000476537:p.Glu28Gln			Missense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain	p.E28Q	ENST00000610205.1	37	c.82	CCDS9553.1	14	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123238	0.56613	.	.	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835;ENST00000443456;ENST00000557503;ENST00000557105;ENST00000413502;ENST00000554842	T;T;T;T;T;T;T;T;T;T;T	0.49139	0.8;0.8;0.8;0.8;0.8;0.8;0.79;0.79;0.83;0.8;0.81	4.2	3.31	0.37934	.	0.390781	0.18870	N	0.128865	T	0.50973	0.1647	L	0.27053	0.805	0.26541	N	0.974074	D	0.89917	1.0	D	0.74674	0.984	T	0.34279	-0.9835	10	0.87932	D	0	-0.8341	8.1982	0.31409	0.0:0.8917:0.0:0.1083	.	28	Q8TAA1	RNS11_HUMAN	Q	28	ENSP00000338288:E28Q;ENSP00000451318:E28Q;ENSP00000451563:E28Q;ENSP00000381093:E28Q;ENSP00000381092:E28Q;ENSP00000395210:E28Q;ENSP00000401398:E28Q;ENSP00000451839:E28Q;ENSP00000452412:E28Q;ENSP00000415954:E28Q;ENSP00000451466:E28Q	ENSP00000338288:E28Q	E	-	1	0	RNASE11	20122392	0.406000	0.25344	0.907000	0.35723	0.770000	0.43624	2.785000	0.47782	1.363000	0.46019	0.511000	0.50034	GAA	RNASE11	-	NULL		0.403	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE11	HGNC	protein_coding	OTTHUMT00000073662.3	C	NM_145250		21052552	-1	no_errors	ENST00000335950	ensembl	human	known	70_37	missense	SNP	0.935	G
RNF208	727800	genome.wustl.edu	37	9	140114971	140114971	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr9:140114971C>T	ENST00000392827.1	-	2	862	c.694G>A	c.(694-696)Gag>Aag	p.E232K	RNF208_ENST00000391553.1_Missense_Mutation_p.E232K			Q9H0X6	RN208_HUMAN	ring finger protein 208	232					protein autoubiquitination (GO:0051865)		ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CAGCTGCCCTCGGGCTCAGCC	0.697																																																	0													17.0	19.0	18.0					9																	140114971		2166	4279	6445	SO:0001583	missense	727800			AF416715	CCDS7037.2	9q34.3	2007-01-19				ENSG00000212864		"""RING-type (C3HC4) zinc fingers"""	25420	protein-coding gene	gene with protein product						11230166	Standard	NM_031297		Approved	DKFZP761H1710	uc004clz.2	Q9H0X6		ENST00000392827.1:c.694G>A	9.37:g.140114971C>T	ENSP00000376572:p.Glu232Lys		A2BFA0	Missense_Mutation	SNP	pfscan_Znf_RING	p.E232K	ENST00000392827.1	37	c.694	CCDS7037.2	9	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012261	0.54468	.	.	ENSG00000212864	ENST00000392827;ENST00000391553	T;T	0.30714	1.52;1.52	4.22	4.22	0.49857	.	0.062964	0.64402	D	0.000011	T	0.18257	0.0438	N	0.24115	0.695	0.38373	D	0.944929	B	0.24483	0.104	B	0.15870	0.014	T	0.09640	-1.0665	10	0.28530	T	0.3	-2.7182	9.1648	0.37046	0.0:0.8976:0.0:0.1024	.	232	Q9H0X6	RN208_HUMAN	K	232	ENSP00000376572:E232K;ENSP00000375397:E232K	ENSP00000375397:E232K	E	-	1	0	RNF208	139234792	0.998000	0.40836	0.979000	0.43373	0.776000	0.43924	3.901000	0.56303	2.169000	0.68431	0.491000	0.48974	GAG	RNF208	-	NULL		0.697	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RNF208	HGNC	protein_coding	OTTHUMT00000254714.1	C	NM_031297		140114971	-1	no_errors	ENST00000391553	ensembl	human	known	70_37	missense	SNP	0.996	T
SBNO1	55206	genome.wustl.edu	37	12	123782609	123782609	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr12:123782609C>T	ENST00000602398.1	-	31	4082	c.3955G>A	c.(3955-3957)Gag>Aag	p.E1319K	SBNO1_ENST00000602750.1_Missense_Mutation_p.E1318K|SBNO1_ENST00000267176.4_Missense_Mutation_p.E1318K|SBNO1_ENST00000420886.2_Missense_Mutation_p.E1319K			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1319					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AGAACACCCTCAACTTTTGTC	0.443																																																	0													191.0	166.0	174.0					12																	123782609		2203	4300	6503	SO:0001583	missense	55206			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3955G>A	12.37:g.123782609C>T	ENSP00000473665:p.Glu1319Lys		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_Prismane-like	p.E1319K	ENST00000602398.1	37	c.3955	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.067324	0.97251	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	D;D	0.82167	-1.58;-1.58	5.63	5.63	0.86233	.	0.149524	0.47852	D	0.000209	D	0.92463	0.7607	M	0.87827	2.91	0.80722	D	1	P;D	0.56035	0.956;0.974	D;D	0.70487	0.931;0.969	D	0.91941	0.5563	10	0.49607	T	0.09	-2.0132	20.1116	0.97914	0.0:1.0:0.0:0.0	.	1319;1318	A3KN83;A3KN83-2	SBNO1_HUMAN;.	K	1319;1318	ENSP00000387361:E1319K;ENSP00000267176:E1318K	ENSP00000267176:E1318K	E	-	1	0	SBNO1	122348562	1.000000	0.71417	0.971000	0.41717	0.999000	0.98932	7.729000	0.84864	2.833000	0.97629	0.650000	0.86243	GAG	SBNO1	-	NULL		0.443	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	C	NM_018183		123782609	-1	no_errors	ENST00000420886	ensembl	human	known	70_37	missense	SNP	1.000	T
SEZ6L	23544	genome.wustl.edu	37	22	26707735	26707735	+	Splice_Site	SNP	G	G	A	rs199961565	byFrequency	TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr22:26707735G>A	ENST00000248933.6	+	8	1778	c.1683G>A	c.(1681-1683)gcG>gcA	p.A561A	SEZ6L_ENST00000529632.2_Splice_Site_p.A561A|SEZ6L_ENST00000360929.3_Splice_Site_p.A561A|SEZ6L_ENST00000404234.3_Splice_Site_p.A561A|SEZ6L_ENST00000402979.1_Splice_Site_p.A334A|SEZ6L_ENST00000343706.4_Splice_Site_p.A561A|SEZ6L_ENST00000403121.1_Splice_Site_p.A334A			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	561	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTTCCTCAGCGTTTGAGAAAG	0.507																																																	0													200.0	199.0	199.0					22																	26707735		2203	4300	6503	SO:0001630	splice_region_variant	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1682-1G>A	22.37:g.26707735G>A			A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.A561	ENST00000248933.6	37	c.1683	CCDS13833.1	22																																																																																			SEZ6L	-	superfamily_CUB,smart_CUB,pfscan_CUB		0.507	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	G		Silent	26707735	+1	no_errors	ENST00000248933	ensembl	human	known	70_37	silent	SNP	0.682	A
SHKBP1	92799	genome.wustl.edu	37	19	41083468	41083468	+	Silent	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr19:41083468C>T	ENST00000291842.5	+	4	241	c.192C>T	c.(190-192)ttC>ttT	p.F64F	SHKBP1_ENST00000600733.1_Silent_p.F64F	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	64	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)			p.F64F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGCAGATCTTCATCGACAGGG	0.592																																																	1	Substitution - coding silent(1)	cervix(1)											173.0	166.0	168.0					19																	41083468		2203	4300	6503	SO:0001819	synonymous_variant	92799			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.192C>T	19.37:g.41083468C>T			Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	NULL	p.S7L	ENST00000291842.5	37	c.20	CCDS12560.1	19																																																																																			SHKBP1	-	NULL		0.592	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHKBP1	HGNC	protein_coding	OTTHUMT00000462613.2	C	NM_138392		41083468	+1	no_errors	ENST00000595523	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC15A2	6565	genome.wustl.edu	37	3	121646562	121646562	+	Intron	SNP	G	G	A	rs370623761		TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr3:121646562G>A	ENST00000489711.1	+	14	1512				SLC15A2_ENST00000295605.2_Intron	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2						drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TCATCCTTTAGAGTCTAAAGT	0.373																																																	0													61.0	60.0	61.0					3																	121646562		2203	4300	6503	SO:0001627	intron_variant	6565			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1125-43G>A	3.37:g.121646562G>A			A8K1A5|B4E2A7	RNA	SNP	-	NULL	ENST00000489711.1	37	NULL	CCDS3007.1	3																																																																																			SLC15A2	-	-		0.373	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A2	HGNC	protein_coding	OTTHUMT00000355239.1	G	NM_021082		121646562	+1	no_errors	ENST00000489957	ensembl	human	known	70_37	rna	SNP	0.002	A
SLC17A6	57084	genome.wustl.edu	37	11	22363305	22363305	+	Silent	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr11:22363305C>T	ENST00000263160.3	+	2	755	c.318C>T	c.(316-318)cgC>cgT	p.R106R		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	106					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CCATCCACCGCGGGGGCAAGG	0.632																																																	0													63.0	53.0	57.0					11																	22363305		2203	4300	6503	SO:0001819	synonymous_variant	57084			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.318C>T	11.37:g.22363305C>T			A6NKS2	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R106	ENST00000263160.3	37	c.318	CCDS7856.1	11																																																																																			SLC17A6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.632	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	HGNC	protein_coding	OTTHUMT00000387671.1	C	NM_020346		22363305	+1	no_errors	ENST00000263160	ensembl	human	known	70_37	silent	SNP	0.636	T
SLC5A11	115584	genome.wustl.edu	37	16	24895396	24895396	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr16:24895396C>T	ENST00000347898.3	+	8	1230	c.608C>T	c.(607-609)aCg>aTg	p.T203M	SLC5A11_ENST00000569071.1_Missense_Mutation_p.T139M|SLC5A11_ENST00000539472.1_Missense_Mutation_p.T139M|SLC5A11_ENST00000449109.2_Missense_Mutation_p.T139M|SLC5A11_ENST00000545376.1_Missense_Mutation_p.T133M|SLC5A11_ENST00000567758.1_Missense_Mutation_p.T168M|SLC5A11_ENST00000424767.2_Missense_Mutation_p.T168M|SLC5A11_ENST00000568579.1_Missense_Mutation_p.T133M|SLC5A11_ENST00000565769.1_Missense_Mutation_p.T139M	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GTGATCTACACGGATGCCCTG	0.597																																																	0													200.0	183.0	189.0					16																	24895396		2197	4300	6497	SO:0001583	missense	115584			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.608C>T	16.37:g.24895396C>T	ENSP00000289932:p.Thr203Met			Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.T203M	ENST00000347898.3	37	c.608	CCDS10625.1	16	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882201	0.91740	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.96482	0.8852	M	0.93763	3.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.976;1.0;1.0;1.0	D	0.97265	0.9907	10	0.62326	D	0.03	.	16.0468	0.80725	0.0:1.0:0.0:0.0	.	133;168;203;139	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	M	203;139;168;133;139	ENSP00000289932:T203M;ENSP00000389606:T139M;ENSP00000416782:T168M;ENSP00000441384:T133M;ENSP00000441018:T139M	ENSP00000289932:T203M	T	+	2	0	SLC5A11	24802897	1.000000	0.71417	0.978000	0.43139	0.986000	0.74619	7.679000	0.84048	2.376000	0.81061	0.655000	0.94253	ACG	SLC5A11	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.597	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A11	HGNC	protein_coding	OTTHUMT00000214091.3	C	NM_052944		24895396	+1	no_errors	ENST00000347898	ensembl	human	known	70_37	missense	SNP	1.000	T
SLITRK1	114798	genome.wustl.edu	37	13	84453964	84453964	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr13:84453964G>A	ENST00000377084.2	-	1	2564	c.1679C>T	c.(1678-1680)aCg>aTg	p.T560M		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	560	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.T560M(2)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTTCACCGGCGTCTCACACTT	0.537																																																	2	Substitution - Missense(2)	NS(1)|endometrium(1)											61.0	55.0	57.0					13																	84453964		2203	4300	6503	SO:0001583	missense	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1679C>T	13.37:g.84453964G>A	ENSP00000366288:p.Thr560Met		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T560M	ENST00000377084.2	37	c.1679	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	G	12.21	1.868672	0.32977	.	.	ENSG00000178235	ENST00000377084	T	0.53423	0.62	5.22	5.22	0.72569	Cysteine-rich flanking region, C-terminal (1);	0.112873	0.64402	D	0.000008	T	0.40956	0.1138	L	0.45352	1.415	0.44432	D	0.99735	B	0.21147	0.052	B	0.23018	0.043	T	0.34800	-0.9814	10	0.66056	D	0.02	-7.8324	11.2346	0.48933	0.0852:0.0:0.9148:0.0	.	560	Q96PX8	SLIK1_HUMAN	M	560	ENSP00000366288:T560M	ENSP00000366288:T560M	T	-	2	0	SLITRK1	83351965	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.008000	0.88588	2.603000	0.88011	0.655000	0.94253	ACG	SLITRK1	-	smart_Cys-rich_flank_reg_C		0.537	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	G	NM_052910		84453964	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	missense	SNP	1.000	A
SNAP91	9892	genome.wustl.edu	37	6	84317425	84317425	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr6:84317425G>A	ENST00000439399.2	-	13	1331	c.1015C>T	c.(1015-1017)Cca>Tca	p.P339S	SNAP91_ENST00000520302.1_Missense_Mutation_p.P337S|SNAP91_ENST00000521485.1_Missense_Mutation_p.P339S|SNAP91_ENST00000520213.1_Missense_Mutation_p.P323S|SNAP91_ENST00000437520.1_Missense_Mutation_p.P323S|SNAP91_ENST00000369694.2_Missense_Mutation_p.P339S|SNAP91_ENST00000521743.1_Missense_Mutation_p.P339S|SNAP91_ENST00000428679.2_Missense_Mutation_p.P339S|SNAP91_ENST00000195649.6_Missense_Mutation_p.P339S	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	339					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AACCTGACTGGGACAGCCGCA	0.373																																																	0													56.0	52.0	53.0					6																	84317425		1832	4078	5910	SO:0001583	missense	9892			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1015C>T	6.37:g.84317425G>A	ENSP00000400459:p.Pro339Ser		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.P339S	ENST00000439399.2	37	c.1015	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860419	0.51482	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931;ENST00000447888	T;T;T;T;T;T;T;T;T;T	0.34859	2.22;2.23;2.23;2.22;2.24;2.29;2.2;2.23;2.29;1.34	6.08	6.08	0.98989	.	0.121727	0.53938	D	0.000047	T	0.15046	0.0363	L	0.36672	1.1	0.41373	D	0.987506	B;B;B;B	0.34103	0.419;0.437;0.437;0.437	B;B;B;B	0.32342	0.144;0.14;0.14;0.14	T	0.03287	-1.1052	10	0.11182	T	0.66	-11.9071	15.7276	0.77774	0.0:0.136:0.8639:0.0	.	323;337;339;337	O60641-3;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	S	339;339;339;339;339;323;337;339;323;337;65	ENSP00000429776:P339S;ENSP00000358708:P339S;ENSP00000400459:P339S;ENSP00000195649:P339S;ENSP00000412492:P339S;ENSP00000413277:P323S;ENSP00000428511:P337S;ENSP00000428215:P339S;ENSP00000428026:P323S;ENSP00000430071:P337S	ENSP00000195649:P339S	P	-	1	0	SNAP91	84374144	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	3.831000	0.55776	2.894000	0.99253	0.655000	0.94253	CCA	SNAP91	-	NULL		0.373	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	G			84317425	-1	no_errors	ENST00000369694	ensembl	human	known	70_37	missense	SNP	1.000	A
SPATA6L	55064	genome.wustl.edu	37	9	4661977	4661977	+	Silent	SNP	G	G	C	rs386731946|rs186090330	byFrequency	TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr9:4661977G>C	ENST00000454239.2	-	3	344	c.99C>G	c.(97-99)ctC>ctG	p.L33L	SPATA6L_ENST00000475086.1_Silent_p.L33L|SPATA6L_ENST00000381890.5_Silent_p.L33L|SPATA6L_ENST00000223517.5_5'UTR|PPAPDC2_ENST00000381883.2_5'Flank|SPATA6L_ENST00000381895.5_5'UTR			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	33																	ACTGATTCATGAGGTAGACCC	0.443											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													94.0	88.0	90.0					9																	4661977		1884	4115	5999	SO:0001819	synonymous_variant	55064			AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 68"""	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.99C>G	9.37:g.4661977G>C		620	B4DIY4|Q5JVJ5|Q8IY90	Silent	SNP	NULL	p.L33	ENST00000454239.2	37	c.99		9																																																																																			SPATA6L	-	NULL		0.443	SPATA6L-202	KNOWN	basic	protein_coding	SPATA6L	HGNC	protein_coding		G	NM_017985		4661977	-1	no_errors	ENST00000454239	ensembl	human	known	70_37	silent	SNP	0.995	C
SPATA6L	55064	genome.wustl.edu	37	9	4661989	4661989	+	Silent	SNP	G	G	A			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr9:4661989G>A	ENST00000454239.2	-	3	332	c.87C>T	c.(85-87)ctC>ctT	p.L29L	SPATA6L_ENST00000475086.1_Silent_p.L29L|SPATA6L_ENST00000381890.5_Silent_p.L29L|SPATA6L_ENST00000223517.5_5'UTR|PPAPDC2_ENST00000381883.2_5'Flank|SPATA6L_ENST00000381895.5_5'UTR			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	29																	GGTAGACCCCGAGGTACACAT	0.438											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													90.0	83.0	85.0					9																	4661989		1877	4114	5991	SO:0001819	synonymous_variant	55064			AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 68"""	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.87C>T	9.37:g.4661989G>A		620	B4DIY4|Q5JVJ5|Q8IY90	Silent	SNP	NULL	p.L29	ENST00000454239.2	37	c.87		9																																																																																			SPATA6L	-	NULL		0.438	SPATA6L-202	KNOWN	basic	protein_coding	SPATA6L	HGNC	protein_coding		G	NM_017985		4661989	-1	no_errors	ENST00000454239	ensembl	human	known	70_37	silent	SNP	0.545	A
SPTAN1	6709	genome.wustl.edu	37	9	131386727	131386727	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr9:131386727C>T	ENST00000372731.4	+	45	6048	c.5938C>T	c.(5938-5940)Cag>Tag	p.Q1980*	SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.Q1985*|SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.Q1985*	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1980					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGCCTTCCTTCAGTTCAACTG	0.562																																					NSCLC(120;833 1744 2558 35612 37579)												0													68.0	56.0	60.0					9																	131386727		2203	4300	6503	SO:0001587	stop_gained	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5938C>T	9.37:g.131386727C>T	ENSP00000361816:p.Gln1980*		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.Q1985*	ENST00000372731.4	37	c.5953	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	C	47	13.709379	0.99758	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.5707	0.95413	0.0:1.0:0.0:0.0	.	.	.	.	X	1985;1980;1985;1960;229	.	ENSP00000350882:Q1985X	Q	+	1	0	SPTAN1	130426548	1.000000	0.71417	0.969000	0.41365	0.996000	0.88848	7.445000	0.80570	2.709000	0.92574	0.655000	0.94253	CAG	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.562	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	C	NM_003127		131386727	+1	no_errors	ENST00000358161	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SQSTM1	8878	genome.wustl.edu	37	5	179260716	179260716	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr5:179260716C>G	ENST00000389805.4	+	7	1277	c.1099C>G	c.(1099-1101)Ctg>Gtg	p.L367V	SQSTM1_ENST00000402874.3_Missense_Mutation_p.L283V|SQSTM1_ENST00000360718.5_Missense_Mutation_p.L283V|SQSTM1_ENST00000376929.3_Missense_Mutation_p.L283V|SQSTM1_ENST00000510187.1_Intron	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	367	Interaction with NTRK1. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCAAGCTCTCTGGACCCCTC	0.542																																																	0													73.0	73.0	73.0					5																	179260716		2203	4300	6503	SO:0001583	missense	8878			U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.1099C>G	5.37:g.179260716C>G	ENSP00000374455:p.Leu367Val		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_OPR_PB1,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ	p.L367V	ENST00000389805.4	37	c.1099	CCDS34317.1	5	.	.	.	.	.	.	.	.	.	.	C	8.705	0.910685	0.17833	.	.	ENSG00000161011	ENST00000376929;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000360718	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	5.16	-2.0	0.07433	.	0.607555	0.15543	N	0.256855	T	0.71970	0.3403	L	0.27053	0.805	0.09310	N	0.999996	B	0.17852	0.024	B	0.12156	0.007	T	0.56655	-0.7943	10	0.35671	T	0.21	-11.843	1.947	0.03358	0.1147:0.3868:0.2066:0.292	.	367	Q13501	SQSTM_HUMAN	V	283;367;223;283;283	ENSP00000366128:L283V;ENSP00000374455:L367V;ENSP00000385553:L283V;ENSP00000353944:L283V	ENSP00000353944:L283V	L	+	1	2	SQSTM1	179193322	0.992000	0.36948	0.520000	0.27837	0.929000	0.56500	1.018000	0.30002	-0.087000	0.12528	-0.459000	0.05422	CTG	SQSTM1	-	NULL		0.542	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SQSTM1	HGNC	protein_coding	OTTHUMT00000319344.1	C			179260716	+1	no_errors	ENST00000389805	ensembl	human	known	70_37	missense	SNP	0.037	G
SUSD1	64420	genome.wustl.edu	37	9	114904663	114904663	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr9:114904663C>G	ENST00000374270.3	-	5	815	c.643G>C	c.(643-645)Gaa>Caa	p.E215Q	SUSD1_ENST00000374263.3_Missense_Mutation_p.E215Q|SUSD1_ENST00000374264.2_Missense_Mutation_p.E215Q|SUSD1_ENST00000482851.1_5'UTR	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	215	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ACTGTATCTTCTGGAACACTG	0.458																																																	0													140.0	144.0	143.0					9																	114904663		2203	4300	6503	SO:0001583	missense	64420			AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.643G>C	9.37:g.114904663C>G	ENSP00000363388:p.Glu215Gln		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP	p.E215Q	ENST00000374270.3	37	c.643	CCDS6783.1	9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	5.505|5.505|5.505	0.278200|0.278200|0.278200	0.10403|0.10403|0.10403	.|.|.	.|.|.	ENSG00000106868|ENSG00000106868|ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264|ENST00000415074|ENST00000355396	T;T;T|.|.	0.24538|.|.	1.85;1.85;1.85|.|.	5.56|5.56|5.56	2.57|2.57|2.57	0.30868|0.30868|0.30868	Complement control module (2);Sushi/SCR/CCP (3);|.|.	0.324544|.|.	0.22392|.|.	N|.|.	0.060675|.|.	T|T|T	0.38746|0.38746|0.38746	0.1052|0.1052|0.1052	L|L|L	0.49699|0.49699|0.49699	1.58|1.58|1.58	0.09310|0.09310|0.09310	N|N|N	1|1|1	B;B;B|.|.	0.30068|.|.	0.112;0.225;0.267|.|.	B;B;B|.|.	0.29862|.|.	0.032;0.066;0.108|.|.	T|T|T	0.26087|0.26087|0.26087	-1.0113|-1.0113|-1.0113	10|5|5	0.17369|.|.	T|.|.	0.5|.|.	-8.901|-8.901|-8.901	5.206|5.206|5.206	0.15291|0.15291|0.15291	0.0:0.5461:0.1438:0.3101|0.0:0.5461:0.1438:0.3101|0.0:0.5461:0.1438:0.3101	.|.|.	215;215;215|.|.	F8WAQ1;Q6UWL2-2;Q6UWL2|.|.	.;.;SUSD1_HUMAN|.|.	Q|H|T	215|28|198	ENSP00000363388:E215Q;ENSP00000363381:E215Q;ENSP00000363382:E215Q|.|.	ENSP00000363381:E215Q|.|.	E|Q|R	-|-|-	1|3|2	0|2|0	SUSD1|SUSD1|SUSD1	113944484|113944484|113944484	0.003000|0.003000|0.003000	0.15002|0.15002|0.15002	0.003000|0.003000|0.003000	0.11579|0.11579|0.11579	0.043000|0.043000|0.043000	0.13939|0.13939|0.13939	1.403000|1.403000|1.403000	0.34612|0.34612|0.34612	0.828000|0.828000|0.828000	0.34709|0.34709|0.34709	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAA|CAG|AGA	SUSD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.458	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD1	HGNC	protein_coding	OTTHUMT00000053668.3	C	NM_022486		114904663	-1	no_errors	ENST00000374264	ensembl	human	known	70_37	missense	SNP	0.001	G
SV2A	9900	genome.wustl.edu	37	1	149877557	149877557	+	Silent	SNP	G	G	A			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:149877557G>A	ENST00000369146.3	-	12	2410	c.1920C>T	c.(1918-1920)ttC>ttT	p.F640F	SV2A_ENST00000369145.1_Silent_p.F640F	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	640					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AAGACAGGAAGAAGCAGGAGA	0.582																																																	0													110.0	89.0	97.0					1																	149877557		2203	4300	6503	SO:0001819	synonymous_variant	9900			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1920C>T	1.37:g.149877557G>A			D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata	p.F640	ENST00000369146.3	37	c.1920	CCDS940.1	1																																																																																			SV2A	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata		0.582	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2A	HGNC	protein_coding	OTTHUMT00000033754.1	G			149877557	-1	no_errors	ENST00000369146	ensembl	human	known	70_37	silent	SNP	1.000	A
TADA1	117143	genome.wustl.edu	37	1	166833160	166833160	+	Splice_Site	SNP	T	T	A			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:166833160T>A	ENST00000367874.4	-	4	326		c.e4-2		TADA1_ENST00000467021.1_5'Flank	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						CAGCACCATCTAGGAGACAGA	0.393																																																	0													57.0	62.0	60.0					1																	166833160		2203	4300	6503	SO:0001630	splice_region_variant	117143			BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.233-2A>T	1.37:g.166833160T>A			A8K4J9	Splice_Site	SNP	-	e4-2	ENST00000367874.4	37	c.233-2	CCDS1255.1	1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.993268	0.74703	.	.	ENSG00000152382	ENST00000367874	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6032	0.68456	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TADA1	165099784	1.000000	0.71417	0.940000	0.37924	0.938000	0.57974	6.921000	0.75805	2.333000	0.79357	0.482000	0.46254	.	TADA1	-	-		0.393	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA1	HGNC	protein_coding	OTTHUMT00000082881.1	T	NM_053053	Intron	166833160	-1	no_errors	ENST00000367874	ensembl	human	known	70_37	splice_site	SNP	0.991	A
TGFBR2	7048	genome.wustl.edu	37	3	30691871	30691872	+	Frame_Shift_Ins	INS	-	-	A	rs79375991		TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr3:30691871_30691872insA	ENST00000295754.5	+	3	755_756	c.373_374insA	c.(373-375)gaafs	p.E125fs	TGFBR2_ENST00000359013.4_Frame_Shift_Ins_p.E150fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	125					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.?(1)|p.P129fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CATTATGAAGGAAAAAAAAAAG	0.421																																																	2	Unknown(1)|Insertion - Frameshift(1)	large_intestine(1)|skin(1)																																								SO:0001589	frameshift_variant	7048				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.383dupA	3.37:g.30691881_30691881dupA	ENSP00000295754:p.Glu125fs		B4DTV5|Q15580|Q6DKT6|Q99474	Frame_Shift_Ins	INS	pfam_Transforming_GF_b_rcpt_2_ecto,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,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom	p.K154fs	ENST00000295754.5	37	c.448_449	CCDS2648.1	3																																																																																			TGFBR2	-	pfam_Transforming_GF_b_rcpt_2_ecto,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt		0.421	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	-			30691872	+1	no_errors	ENST00000359013	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A
TRIM50	135892	genome.wustl.edu	37	7	72732856	72732856	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr7:72732856G>A	ENST00000333149.2	-	4	891	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	TRIM50_ENST00000453152.1_Nonsense_Mutation_p.Q231*	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	231						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						TTGCCGAACTGTTCCAGCACA	0.667																																																	0													129.0	119.0	122.0					7																	72732856		2203	4300	6503	SO:0001587	stop_gained	135892			AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19017	protein-coding gene	gene with protein product		612548	"""tripartite motif-containing 50A"", ""tripartite motif-containing 50"""	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.691C>T	7.37:g.72732856G>A	ENSP00000327994:p.Gln231*		Q86XT3	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.Q231*	ENST00000333149.2	37	c.691	CCDS34654.1	7	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832950	0.71258	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	.	.	.	4.36	3.47	0.39725	.	0.606358	0.14813	N	0.296918	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	7.5283	0.27668	0.0:0.1462:0.5548:0.2991	.	.	.	.	X	231	.	ENSP00000327994:Q231X	Q	-	1	0	TRIM50	72370792	0.995000	0.38212	0.995000	0.50966	0.088000	0.18126	1.937000	0.40193	1.047000	0.40274	-0.437000	0.05841	CAG	TRIM50	-	NULL		0.667	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM50	HGNC	protein_coding	OTTHUMT00000345925.1	G	NM_178125		72732856	-1	no_errors	ENST00000333149	ensembl	human	known	70_37	nonsense	SNP	0.963	A
U2SURP	23350	genome.wustl.edu	37	3	142731178	142731178	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr3:142731178C>T	ENST00000473835.2	+	3	295	c.205C>T	c.(205-207)Cat>Tat	p.H69Y	U2SURP_ENST00000493598.2_Missense_Mutation_p.H69Y|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	69					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TGATTCTCCTCATCAGAATCT	0.373																																																	0													49.0	45.0	47.0					3																	142731178		1835	4078	5913	SO:0001583	missense	23350			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.205C>T	3.37:g.142731178C>T	ENSP00000418563:p.His69Tyr		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_RNA_polymerase_II_lsu_CTD,pfscan_Surp,pfscan_RRM_dom	p.H69Y	ENST00000473835.2	37	c.205	CCDS46928.1	3	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987308	0.53934	.	.	ENSG00000163714	ENST00000473835;ENST00000493782;ENST00000319822;ENST00000493598;ENST00000465175	T;T	0.11063	2.81;2.81	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000005	T	0.14743	0.0356	N	0.08118	0	0.80722	D	1	B;B;B	0.33000	0.273;0.393;0.273	B;P;P	0.51701	0.152;0.677;0.478	T	0.37572	-0.9700	10	0.59425	D	0.04	-18.5782	15.3956	0.74790	0.0:1.0:0.0:0.0	.	69;69;69	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	Y	69;69;69;69;39	ENSP00000418563:H69Y;ENSP00000422011:H69Y	ENSP00000322376:H69Y	H	+	1	0	U2SURP	144213868	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.505000	0.53356	2.776000	0.95493	0.655000	0.94253	CAT	U2SURP	-	NULL		0.373	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	U2SURP	HGNC	protein_coding	OTTHUMT00000354603.2	C	NM_001080415		142731178	+1	no_errors	ENST00000319822	ensembl	human	known	70_37	missense	SNP	1.000	T
UBE2Q2	92912	genome.wustl.edu	37	15	76136660	76136660	+	Intron	SNP	T	T	C			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr15:76136660T>C	ENST00000267938.4	+	1	562				UBE2Q2_ENST00000562635.1_3'UTR|UBE2Q2_ENST00000569423.1_Intron|UBE2Q2_ENST00000338677.4_Intron|UBE2Q2_ENST00000561851.1_5'UTR	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2						protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						GTTCAGCCAATTGTTTTTAAG	0.488																																																	0													57.0	52.0	53.0					15																	76136660		686	1585	2271	SO:0001627	intron_variant	92912			BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"""Ubiquitin-conjugating enzymes E2"""	19248	protein-coding gene	gene with protein product		612501	"""ubiquitin-conjugating enzyme E2Q (putative) 2"""			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.180+473T>C	15.37:g.76136660T>C			B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	RNA	SNP	-	NULL	ENST00000267938.4	37	NULL	CCDS10286.1	15																																																																																			UBE2Q2	-	-		0.488	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q2	HGNC	protein_coding	OTTHUMT00000286475.1	T	NM_173469		76136660	+1	no_errors	ENST00000562635	ensembl	human	known	70_37	rna	SNP	0.000	C
UGT1A10	54575	genome.wustl.edu	37	2	234545342	234545342	+	Silent	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr2:234545342C>T	ENST00000344644.5	+	1	243	c.174C>T	c.(172-174)gtC>gtT	p.V58V	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Silent_p.V58V	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	58					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.V58V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	TGGTTGTAGTCATGCCAGAGG	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											106.0	89.0	94.0					2																	234545342		2203	4300	6503	SO:0001819	synonymous_variant	54575			U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.174C>T	2.37:g.234545342C>T			O00474|Q6NT91|Q7Z6H8	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V58	ENST00000344644.5	37	c.174	CCDS33403.1	2																																																																																			UGT1A10	-	pfam_UDP_glucos_trans		0.517	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT1A10	HGNC	protein_coding	OTTHUMT00000130986.1	C	NM_019075		234545342	+1	no_errors	ENST00000344644	ensembl	human	known	70_37	silent	SNP	0.007	T
WBSCR17	64409	genome.wustl.edu	37	7	70597904	70597904	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr7:70597904T>G	ENST00000333538.5	+	1	750	c.116T>G	c.(115-117)tTc>tGc	p.F39C		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	39					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGAGACGCCTTCCACGAGATC	0.667																																																	0													40.0	38.0	39.0					7																	70597904		2203	4298	6501	SO:0001583	missense	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.116T>G	7.37:g.70597904T>G	ENSP00000329654:p.Phe39Cys		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.F39C	ENST00000333538.5	37	c.116	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	T	16.21	3.058351	0.55325	.	.	ENSG00000185274	ENST00000333538	T	0.54866	0.55	4.72	4.72	0.59763	.	0.837123	0.10330	N	0.687659	T	0.40067	0.1102	N	0.22421	0.69	0.35222	D	0.776126	P	0.48640	0.913	B	0.40741	0.339	T	0.49093	-0.8975	10	0.52906	T	0.07	.	10.1537	0.42809	0.1491:0.0:0.0:0.8509	.	39	Q6IS24	GLTL3_HUMAN	C	39	ENSP00000329654:F39C	ENSP00000329654:F39C	F	+	2	0	WBSCR17	70235840	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.725000	0.47294	1.981000	0.57761	0.383000	0.25322	TTC	WBSCR17	-	NULL		0.667	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	T	NM_022479		70597904	+1	no_errors	ENST00000333538	ensembl	human	known	70_37	missense	SNP	1.000	G
ZBTB41	360023	genome.wustl.edu	37	1	197169636	197169636	+	5'UTR	SNP	A	A	G	rs201195768		TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:197169636A>G	ENST00000367405.4	-	0	36				ZBTB41_ENST00000467322.1_5'UTR|CRB1_ENST00000535699.1_5'Flank	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AAGAAACTTCATAAGTGTCTT	0.383																																																	0								A		0,4366		0,0,2183	31.0	32.0	31.0			5.1	1.0	1		31	3,8579		0,3,4288	no	utr-5	ZBTB41	NM_194314.2		0,3,6471	GG,GA,AA		0.035,0.0,0.0232			197169636	3,12945	2183	4291	6474	SO:0001623	5_prime_UTR_variant	360023				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.-33T>C	1.37:g.197169636A>G			A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	RNA	SNP	-	NULL	ENST00000367405.4	37	NULL	CCDS30960.1	1																																																																																			ZBTB41	-	-		0.383	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB41	HGNC	protein_coding	OTTHUMT00000088249.2	A	NM_194314		197169636	-1	no_errors	ENST00000467322	ensembl	human	known	70_37	rna	SNP	1.000	G
ZFC3H1	196441	genome.wustl.edu	37	12	72030728	72030728	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr12:72030728G>C	ENST00000378743.3	-	8	2195	c.1837C>G	c.(1837-1839)Cca>Gca	p.P613A	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	613	Pro-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GGTGGTTTTGGAGGCTGTTCT	0.453																																																	0													138.0	137.0	137.0					12																	72030728		1885	4126	6011	SO:0001583	missense	196441			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1837C>G	12.37:g.72030728G>C	ENSP00000368017:p.Pro613Ala		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.P613A	ENST00000378743.3	37	c.1837	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677598	0.88445	.	.	ENSG00000133858	ENST00000378743	T	0.60299	0.2	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.64951	0.2645	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.58994	-0.7537	10	0.22109	T	0.4	.	20.0992	0.97865	0.0:0.0:1.0:0.0	.	613	O60293	ZC3H1_HUMAN	A	613	ENSP00000368017:P613A	ENSP00000368017:P613A	P	-	1	0	ZFC3H1	70316995	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.466000	0.90387	2.762000	0.94881	0.467000	0.42956	CCA	ZFC3H1	-	NULL		0.453	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	G	NM_144982		72030728	-1	no_errors	ENST00000378743	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF101	94039	genome.wustl.edu	37	19	19790321	19790321	+	Missense_Mutation	SNP	G	G	A	rs558462983		TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr19:19790321G>A	ENST00000592502.1	+	4	633	c.523G>A	c.(523-525)Ggg>Agg	p.G175R	ZNF101_ENST00000415784.2_Missense_Mutation_p.G55R|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	175					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(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CAAGGTGTGCGGGAAAGCCTT	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		19760	0.0		0.001	False		,,,				2504	0.0																0													89.0	94.0	92.0					19																	19790321		2203	4300	6503	SO:0001583	missense	94039			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.523G>A	19.37:g.19790321G>A	ENSP00000468049:p.Gly175Arg		C9JU83|Q0VDG9	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.G175R	ENST00000592502.1	37	c.523	CCDS32971.1	19	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552295	0.65311	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.07444	3.19;3.19	0.235	0.235	0.15431	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27594	0.0678	M	0.90198	3.095	0.34091	D	0.660734	D	0.76494	0.999	D	0.67900	0.954	T	0.38457	-0.9660	9	0.72032	D	0.01	.	6.2532	0.20859	3.0E-4:0.0:0.9997:0.0	.	175	Q8IZC7	ZN101_HUMAN	R	175;175;55	ENSP00000319716:G175R;ENSP00000400952:G55R	ENSP00000319716:G175R	G	+	1	0	ZNF101	19651321	1.000000	0.71417	0.543000	0.28128	0.550000	0.35303	2.860000	0.48372	0.308000	0.22923	0.313000	0.20887	GGG	ZNF101	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF101	HGNC	protein_coding	OTTHUMT00000460559.1	G	NM_033204		19790321	+1	no_errors	ENST00000318110	ensembl	human	known	70_37	missense	SNP	1.000	A
ZSCAN32	54925	genome.wustl.edu	37	16	3433692	3433692	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr16:3433692C>G	ENST00000396852.4	-	7	1561	c.1254G>C	c.(1252-1254)gaG>gaC	p.E418D	ZSCAN32_ENST00000439568.2_Missense_Mutation_p.E129D|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.E418D|NAA60_ENST00000576906.1_Intron|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.E206D	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	418					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)										CTTTTTTAATCTCGTTCTTGA	0.343																																																	0													34.0	33.0	34.0					16																	3433692		2197	4300	6497	SO:0001583	missense	54925			AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.1254G>C	16.37:g.3433692C>G	ENSP00000380061:p.Glu418Asp		B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E418D	ENST00000396852.4	37	c.1254		16	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304258	0.23736	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000439568	T;T;T;T	0.09255	3.0;3.07;3.07;3.01	3.98	-2.7	0.06004	.	.	.	.	.	T	0.05731	0.0150	L	0.27053	0.805	0.09310	N	1	B;B	0.28470	0.213;0.213	B;B	0.21151	0.033;0.033	T	0.34925	-0.9809	9	0.52906	T	0.07	.	2.6953	0.05133	0.343:0.3091:0.0:0.3479	.	206;418	Q9NX65;Q6WMU8	ZN434_HUMAN;.	D	206;418;418;129	ENSP00000302502:E206D;ENSP00000380061:E418D;ENSP00000380057:E418D;ENSP00000391787:E129D	ENSP00000302502:E206D	E	-	3	2	ZNF434	3373693	0.000000	0.05858	0.001000	0.08648	0.234000	0.25298	-0.798000	0.04565	-0.482000	0.06782	-0.182000	0.12963	GAG	ZNF434	-	NULL		0.343	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	ZNF434	HGNC	protein_coding	OTTHUMT00000251509.2	C	NM_017810		3433692	-1	no_errors	ENST00000396846	ensembl	human	known	70_37	missense	SNP	0.012	G
ZNF776	284309	genome.wustl.edu	37	19	58258211	58258212	+	5'UTR	INS	-	-	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr19:58258211_58258212insT	ENST00000317178.5	+	0	48_49				ZNF776_ENST00000431353.1_5'UTR|AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		TGTTGGGTGTATTTTCCAGTGA	0.53																																																	0																																										SO:0001623	5_prime_UTR_variant	284309			AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.-215->T	19.37:g.58258215_58258215dupT			Q6ZS36|Q8N968	RNA	INS	-	NULL	ENST00000317178.5	37	NULL	CCDS12962.2	19																																																																																			ZNF776	-	-		0.530	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF776	HGNC	protein_coding	OTTHUMT00000346722.2	-	NM_173632		58258212	+1	no_errors	ENST00000473585	ensembl	human	putative	70_37	rna	INS	0.000:0.000	T
ZNF446	55663	genome.wustl.edu	37	19	58989542	58989542	+	Silent	SNP	G	G	A			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr19:58989542G>A	ENST00000594369.1	+	4	1002	c.621G>A	c.(619-621)agG>agA	p.R207R	ZNF446_ENST00000335841.4_Silent_p.R207R|CTD-2619J13.23_ENST00000598051.1_RNA|ZNF446_ENST00000596341.1_Silent_p.R207R	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	207					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ACCCACCCAGGATTCAGGTGA	0.602																																																	0													94.0	77.0	83.0					19																	58989542		2203	4300	6503	SO:0001819	synonymous_variant	55663				CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.621G>A	19.37:g.58989542G>A				Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R207	ENST00000594369.1	37	c.621	CCDS12982.1	19	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382027	0.42207	.	.	ENSG00000083838	ENST00000391694	.	.	.	4.31	2.08	0.27032	.	.	.	.	.	T	0.40448	0.1117	.	.	.	0.26859	N	0.967991	.	.	.	.	.	.	T	0.35968	-0.9767	5	0.72032	D	0.01	-24.6208	6.2268	0.20711	0.1019:0.1871:0.711:0.0	.	.	.	.	E	37	.	ENSP00000375576:G37E	G	+	2	0	ZNF446	63681354	0.884000	0.30299	0.944000	0.38274	0.274000	0.26718	0.915000	0.28638	0.709000	0.31976	0.561000	0.74099	GGA	ZNF446	-	NULL		0.602	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF446	HGNC	protein_coding	OTTHUMT00000467052.1	G	NM_017908		58989542	+1	no_errors	ENST00000594369	ensembl	human	known	70_37	silent	SNP	0.998	A
ZWINT	11130	genome.wustl.edu	37	10	58118352	58118352	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr10:58118352C>T	ENST00000373944.3	-	7	795	c.757G>A	c.(757-759)Gac>Aac	p.D253N	ZWINT_ENST00000318387.2_Missense_Mutation_p.D133N|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000361148.6_Missense_Mutation_p.D206N|ZWINT_ENST00000395405.1_Missense_Mutation_p.D253N			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	253					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						CCCATGGTGTCTCCTGTACTC	0.572																																																	0													103.0	98.0	99.0					10																	58118352		2203	4300	6503	SO:0001583	missense	11130			AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"""ZW10 interactor"""				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.757G>A	10.37:g.58118352C>T	ENSP00000363055:p.Asp253Asn		A6NNV6|Q0D2I3|Q9BWD0	Missense_Mutation	SNP	NULL	p.D253N	ENST00000373944.3	37	c.757	CCDS7249.1	10	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280631	0.59758	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000318387;ENST00000361148	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	4.16	0.0334	0.14179	.	0.648638	0.13573	N	0.377911	T	0.36276	0.0961	L	0.27053	0.805	0.09310	N	1	B;B	0.24368	0.102;0.102	B;B	0.29785	0.107;0.066	T	0.19549	-1.0302	10	0.24483	T	0.36	-34.4169	1.1786	0.01841	0.1805:0.4414:0.1755:0.2026	.	206;253	A6NNV6;O95229	.;ZWINT_HUMAN	N	253;253;133;206	ENSP00000363055:D253N;ENSP00000378801:D253N;ENSP00000322850:D133N;ENSP00000354921:D206N	ENSP00000322850:D133N	D	-	1	0	ZWINT	57788358	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.150000	0.16263	0.012000	0.14892	0.563000	0.77884	GAC	ZWINT	-	NULL		0.572	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZWINT	HGNC	protein_coding	OTTHUMT00000048132.1	C			58118352	-1	no_errors	ENST00000373944	ensembl	human	known	70_37	missense	SNP	0.000	T
