#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ALB	213	hgsc.bcm.edu;ucsc.edu	37	4	74283260	74283260	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr4:74283260delT	ENST00000503124.1	+	9	1059	c.852delT	c.(850-852)cgtfs	p.R284fs	ALB_ENST00000509063.1_Frame_Shift_Del_p.R434fs|ALB_ENST00000415165.2_Frame_Shift_Del_p.R242fs|ALB_ENST00000505649.1_Intron|ALB_ENST00000401494.3_Frame_Shift_Del_p.R319fs|ALB_ENST00000295897.4_Frame_Shift_Del_p.R434fs			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TATTAGTTCGTTACACCAAGA	0.403																																																	0													88.0	90.0	90.0					4																	74283260		2203	4300	6503	SO:0001589	frameshift_variant	213			V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.852delT	4.37:g.74283260delT	ENSP00000421027:p.Arg284fs	Somatic		WXS	Illumina HiSeq	Phase_I	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Frame_Shift_Del	DEL	ENST00000503124.1	37																																																																																					0.403	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1		NM_000477	
ANKH	56172	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	14711323	14711323	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr5:14711323T>A	ENST00000284268.6	-	12	1792	c.1462A>T	c.(1462-1464)Aga>Tga	p.R488*	ANKH_ENST00000535119.1_Nonsense_Mutation_p.R290*	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	488					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)	p.R488*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTCCTCTCTCATTTCCACG	0.527																																																	1	Substitution - Nonsense(1)	kidney(1)											289.0	245.0	260.0					5																	14711323		2203	4300	6503	SO:0001587	stop_gained	56172			AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.1462A>T	5.37:g.14711323T>A	ENSP00000284268:p.Arg488*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Nonsense_Mutation	SNP	ENST00000284268.6	37	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	T	40	8.042527	0.98624	.	.	ENSG00000154122	ENST00000535119;ENST00000284268	.	.	.	5.17	-0.391	0.12446	.	0.166280	0.53938	D	0.000044	.	.	.	.	.	.	0.58432	A	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.6076	14.4031	0.67063	0.0:0.0:0.5817:0.4183	.	.	.	.	X	290;488	.	ENSP00000284268:R488X	R	-	1	2	ANKH	14764323	1.000000	0.71417	0.740000	0.30986	0.987000	0.75469	0.984000	0.29565	-0.320000	0.08640	0.533000	0.62120	AGA		0.527	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1		NM_054027	
ANO3	63982	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	26563538	26563538	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr11:26563538G>T	ENST00000256737.3	+	11	1929	c.1077G>T	c.(1075-1077)caG>caT	p.Q359H	ANO3_ENST00000531568.1_Missense_Mutation_p.Q213H|ANO3_ENST00000525139.1_Missense_Mutation_p.Q343H|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000537978.1_Missense_Mutation_p.Q343H	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	359					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.Q359H(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATGGACCTCAGAATAACAGAC	0.398																																																	1	Substitution - Missense(1)	kidney(1)											71.0	68.0	69.0					11																	26563538		2203	4299	6502	SO:0001583	missense	63982			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1077G>T	11.37:g.26563538G>T	ENSP00000256737:p.Gln359His	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406711	0.62399	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.49	2.61	0.31194	.	0.214766	0.44285	D	0.000466	T	0.61160	0.2325	L	0.44542	1.39	0.58432	D	0.999992	P;D	0.60575	0.835;0.988	P;P	0.56751	0.615;0.805	T	0.55049	-0.8201	10	0.16420	T	0.52	.	9.2142	0.37337	0.289:0.0:0.711:0.0	.	261;359	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	H	343;343;359;261;213	ENSP00000440737:Q343H;ENSP00000432576:Q343H;ENSP00000256737:Q359H;ENSP00000432394:Q213H	ENSP00000256737:Q359H	Q	+	3	2	ANO3	26520114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.124000	0.31320	0.690000	0.31570	0.655000	0.94253	CAG		0.398	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1		NM_031418	
ASMT	438	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	1748789	1748789	+	Silent	SNP	C	C	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chrX:1748789C>T	ENST00000381229.4	+	5	555	c.519C>T	c.(517-519)acC>acT	p.T173T	ASMT_ENST00000381233.3_Silent_p.T173T|ASMT_ENST00000509780.1_Intron|ASMT_ENST00000381241.3_Silent_p.T173T			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	173					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)	p.T173T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	GCGTGCTGACCGCCTTTGACC	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											431.0	342.0	372.0					X																	1748789		2203	4296	6499	SO:0001819	synonymous_variant	438			M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.519C>T	X.37:g.1748789C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RC33|Q16598|Q5JQ72|Q5JQ73	Silent	SNP	ENST00000381229.4	37																																																																																					0.557	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1		NM_004043	
BAZ2A	11176	hgsc.bcm.edu	37	12	56995333	56995334	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr12:56995333_56995334insT	ENST00000551812.1	-	20	4266_4267	c.4073_4074insA	c.(4072-4074)aagfs	p.K1358fs	BAZ2A_ENST00000379441.3_Frame_Shift_Ins_p.K1328fs|BAZ2A_ENST00000179765.5_Frame_Shift_Ins_p.K1326fs|BAZ2A_ENST00000549884.1_Frame_Shift_Ins_p.K1356fs|BAZ2A_ENST00000553222.1_5'Flank	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1358	Pro-rich.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TACTTACTGGCTTGGAGGAGGC	0.559																																																	0																																										SO:0001589	frameshift_variant	11176			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.4074dupA	12.37:g.56995335_56995335dupT	ENSP00000446880:p.Lys1358fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KN66|O00536|O15030|Q68DI8|Q96H26	Frame_Shift_Ins	INS	ENST00000551812.1	37	CCDS44924.1																																																																																				0.559	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1		NM_013449	
C17orf75	64149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	30666861	30666861	+	Silent	SNP	C	C	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr17:30666861C>A	ENST00000577809.1	-	3	367	c.318G>T	c.(316-318)ggG>ggT	p.G106G	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Silent_p.G106G	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	106								p.G106G(1)		ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CATTACCCAGCCCTTCAAAGA	0.443																																																	1	Substitution - coding silent(1)	kidney(1)											146.0	143.0	144.0					17																	30666861		1935	4148	6083	SO:0001819	synonymous_variant	64149			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.318G>T	17.37:g.30666861C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z2H4	Silent	SNP	ENST00000577809.1	37	CCDS58537.1																																																																																				0.443	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1		NM_022344	
AAR2	25980	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	34843594	34843594	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr20:34843594G>T	ENST00000373932.3	+	4	1428	c.1082G>T	c.(1081-1083)tGg>tTg	p.W361L	AAR2_ENST00000320849.4_Missense_Mutation_p.W361L|AAR2_ENST00000397286.3_Intron	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	361								p.W361L(1)									AAGTTCCGGTGGGACTTTGCT	0.582																																																	1	Substitution - Missense(1)	kidney(1)											91.0	96.0	94.0					20																	34843594		2203	4300	6503	SO:0001583	missense	0				CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 4"""	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.1082G>T	20.37:g.34843594G>T	ENSP00000363043:p.Trp361Leu	Somatic		WXS	Illumina HiSeq	Phase_I	E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Missense_Mutation	SNP	ENST00000373932.3	37	CCDS13273.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257586	0.95368	.	.	ENSG00000131043	ENST00000320849;ENST00000373932	T;T	0.48836	0.8;0.8	6.17	6.17	0.99709	.	.	.	.	.	T	0.72542	0.3473	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71111	-0.4687	9	0.49607	T	0.09	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	361	Q9Y312	CT004_HUMAN	L	361	ENSP00000313674:W361L;ENSP00000363043:W361L	ENSP00000313674:W361L	W	+	2	0	C20orf4	34307008	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.448000	0.97600	2.941000	0.99782	0.655000	0.94253	TGG		0.582	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2		NM_015511	
CAMSAP2	23271	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	200817766	200817767	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr1:200817766_200817767GG>AT	ENST00000236925.4	+	12	1951_1952	c.1902_1903GG>AT	c.(1900-1905)atGGac>atATac	p.634_635MD>IY	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.607_608MD>IY|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.623_624MD>IY			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	634					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)	p.M623I(1)|p.D624Y(1)|p.M623>?(1)									CTGAAACTATGGACGAAGATTC	0.386																																																	3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	Exception_encountered	1.37:g.200817766_200817767delinsAT	ENSP00000236925:p.M634_D635delinsIY	Somatic		WXS	Illumina HiSeq	Phase_I	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37																																																																																					0.386	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2		NM_203459	
DNAJC2	27000	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	102960089	102960089	+	Silent	SNP	T	T	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr7:102960089T>A	ENST00000379263.3	-	12	1459	c.1209A>T	c.(1207-1209)acA>acT	p.T403T	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	403					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)	p.T361T(1)		endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						CTACTTCTTTTGTGCATGATG	0.358																																																	1	Substitution - coding silent(1)	kidney(1)											122.0	115.0	117.0					7																	102960089		1862	4102	5964	SO:0001819	synonymous_variant	27000			X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.1209A>T	7.37:g.102960089T>A		Somatic		WXS	Illumina HiSeq	Phase_I	A4VCI0|Q9BVX1	Silent	SNP	ENST00000379263.3	37	CCDS43628.1																																																																																				0.358	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			
DPP3	10072	broad.mit.edu;hgsc.bcm.edu	37	11	66255471	66255471	+	Silent	SNP	T	T	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr11:66255471T>A	ENST00000360510.2	+	6	725	c.660T>A	c.(658-660)ctT>ctA	p.L220L	DPP3_ENST00000541961.1_Silent_p.L220L|DPP3_ENST00000531863.1_Silent_p.L240L|DPP3_ENST00000453114.1_Silent_p.L220L|DPP3_ENST00000532677.1_Silent_p.L239L|DPP3_ENST00000530165.1_Silent_p.L190L			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	220					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L220L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTTCTGTGCTTGGCTCAGGTG	0.582																																																	1	Substitution - coding silent(1)	kidney(1)											70.0	63.0	65.0					11																	66255471		2200	4295	6495	SO:0001819	synonymous_variant	10072			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.660T>A	11.37:g.66255471T>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	CCDS8141.1																																																																																				0.582	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			
DPP6	1804	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	154172047	154172047	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr7:154172047A>C	ENST00000377770.3	+	3	523	c.382A>C	c.(382-384)Aag>Cag	p.K128Q	DPP6_ENST00000332007.3_Missense_Mutation_p.K66Q|DPP6_ENST00000404039.1_Missense_Mutation_p.K64Q|DPP6_ENST00000427557.1_Missense_Mutation_p.K66Q|DPP6_ENST00000406326.1_Missense_Mutation_p.K128Q|DPP6_ENST00000496611.1_3'UTR			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	128					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.K128Q(2)|p.K66Q(1)|p.K64Q(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTGTCTCAAAAGAAGAAGGT	0.378																																					NSCLC(125;1384 1783 2490 7422 34254)												4	Substitution - Missense(4)	kidney(4)											80.0	77.0	78.0					7																	154172047		1872	4097	5969	SO:0001583	missense	1804			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.382A>C	7.37:g.154172047A>C	ENSP00000367001:p.Lys128Gln	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000377770.3	37		.	.	.	.	.	.	.	.	.	.	A	16.89	3.246612	0.59103	.	.	ENSG00000130226	ENST00000404039;ENST00000406326;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.16	5.16	0.70880	.	0.046275	0.85682	D	0.000000	T	0.63177	0.2489	.	.	.	0.43745	D	0.996244	P;D;D;D;D;D	0.71674	0.93;0.984;0.99;0.996;0.998;0.992	P;P;P;P;D;P	0.70227	0.598;0.839;0.673;0.702;0.968;0.559	T	0.62105	-0.6924	9	0.34782	T	0.22	-25.7203	11.6719	0.51406	1.0:0.0:0.0:0.0	.	66;66;66;128;128;64	E9PDL2;B7Z1K3;P42658-2;P42658;Q8IYG9;E9PF59	.;.;.;DPP6_HUMAN;.;.	Q	64;128;128;66;66	ENSP00000385578:K64Q;ENSP00000384393:K128Q;ENSP00000367001:K128Q;ENSP00000328226:K66Q;ENSP00000397303:K66Q	ENSP00000328226:K66Q	K	+	1	0	DPP6	153802980	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	7.059000	0.76684	2.050000	0.60909	0.528000	0.53228	AAG		0.378	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1		NM_130797	
FANCD2	2177	hgsc.bcm.edu;ucsc.edu	37	3	10108913	10108913	+	Missense_Mutation	SNP	G	G	T	rs80258959		TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr3:10108913G>T	ENST00000419585.1	+	26	2567	c.2406G>T	c.(2404-2406)caG>caT	p.Q802H	FANCD2_ENST00000287647.3_Missense_Mutation_p.Q802H|FANCD2_ENST00000383807.1_Missense_Mutation_p.Q802H|FANCD2_ENST00000383806.1_Missense_Mutation_p.Q802H			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	802					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.Q802H(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CCTTCTGCCAGGAAACATCAC	0.378			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	2	Substitution - Missense(2)	prostate(2)											82.0	72.0	75.0					3																	10108913		2203	4300	6503	SO:0001583	missense	2177	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2406G>T	3.37:g.10108913G>T	ENSP00000398754:p.Gln802His	Somatic		WXS	Illumina HiSeq	Phase_I	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373535	0.61624	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.44	1.83	0.25207	.	0.551240	0.20789	N	0.085651	T	0.50240	0.1604	M	0.63428	1.95	0.30837	N	0.736052	P;P	0.50710	0.938;0.938	P;P	0.53988	0.739;0.739	T	0.53229	-0.8468	10	0.54805	T	0.06	.	3.6289	0.08124	0.3156:0.0:0.4962:0.1881	.	802;802	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	H	802	ENSP00000287647:Q802H;ENSP00000373318:Q802H;ENSP00000373317:Q802H;ENSP00000398754:Q802H	ENSP00000287647:Q802H	Q	+	3	2	FANCD2	10083913	0.804000	0.28969	0.409000	0.26459	0.904000	0.53231	1.055000	0.30467	0.519000	0.28406	0.585000	0.79938	CAG		0.378	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			
FRAS1	80144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	79369243	79369243	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr4:79369243T>C	ENST00000264895.6	+	44	6487	c.6047T>C	c.(6046-6048)cTg>cCg	p.L2016P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2016					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.L2016P(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTGAGCCTCTGGAGAATGGG	0.468																																																	2	Substitution - Missense(2)	kidney(2)											78.0	76.0	77.0					4																	79369243		1914	4135	6049	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.6047T>C	4.37:g.79369243T>C	ENSP00000264895:p.Leu2016Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.756572	0.31137	.	.	ENSG00000138759	ENST00000264895	T	0.50277	0.75	5.68	5.68	0.88126	.	0.080568	0.51477	D	0.000094	T	0.46328	0.1387	M	0.73372	2.23	0.80722	D	1	P	0.35107	0.484	B	0.32211	0.142	T	0.48937	-0.8990	10	0.45353	T	0.12	.	11.8352	0.52319	0.0:0.0701:0.0:0.9299	.	2016	E9PHH6	.	P	2016	ENSP00000264895:L2016P	ENSP00000264895:L2016P	L	+	2	0	FRAS1	79588267	1.000000	0.71417	0.992000	0.48379	0.468000	0.32798	3.115000	0.50391	2.179000	0.69175	0.477000	0.44152	CTG		0.468	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				
GIGYF2	26058	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	233677188	233677188	+	Silent	SNP	T	T	C			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr2:233677188T>C	ENST00000409547.1	+	20	2405	c.2094T>C	c.(2092-2094)gcT>gcC	p.A698A	GIGYF2_ENST00000373566.3_Silent_p.A720A|GIGYF2_ENST00000409480.1_Silent_p.A720A|GIGYF2_ENST00000409451.3_Silent_p.A719A|GIGYF2_ENST00000373563.4_Silent_p.A698A|GIGYF2_ENST00000452341.2_Silent_p.A529A|GIGYF2_ENST00000409196.3_Silent_p.A692A	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	698	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.A698A(1)|p.A719A(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGCCAACAGCTTCACAGCCTA	0.378																																																	2	Substitution - coding silent(2)	kidney(2)											69.0	66.0	67.0					2																	233677188		2203	4300	6503	SO:0001819	synonymous_variant	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2094T>C	2.37:g.233677188T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	ENST00000409547.1	37	CCDS33401.1																																																																																				0.378	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2		NM_001103146	
KAT2B	8850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	20153265	20153265	+	Silent	SNP	C	C	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr3:20153265C>T	ENST00000263754.4	+	6	1484	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	343					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.L343L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CTCTAATCCTCACTCATTTCC	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											93.0	85.0	88.0					3																	20153265		2203	4300	6503	SO:0001819	synonymous_variant	8850			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1029C>T	3.37:g.20153265C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6NSK1	Silent	SNP	ENST00000263754.4	37	CCDS2634.1																																																																																				0.423	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1		NM_003884	
KBTBD8	84541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	67054477	67054477	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr3:67054477G>T	ENST00000417314.2	+	3	1135	c.1086G>T	c.(1084-1086)atG>atT	p.M362I	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000295568.4_Missense_Mutation_p.M336I			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	362						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)		p.M336I(1)|p.M362I(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		ATTTCTGGATGTATGATCATT	0.433																																																	2	Substitution - Missense(2)	kidney(2)											133.0	121.0	125.0					3																	67054477		2203	4300	6503	SO:0001583	missense	84541			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1086G>T	3.37:g.67054477G>T	ENSP00000401878:p.Met362Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320825	0.41096	.	.	ENSG00000163376	ENST00000295568;ENST00000417314	T;T	0.76968	-1.06;-1.06	5.36	5.36	0.76844	Kelch-type beta propeller (1);	0.090151	0.85682	D	0.000000	T	0.68650	0.3024	N	0.22421	0.69	0.41384	D	0.987571	B	0.32396	0.369	B	0.36335	0.222	T	0.65348	-0.6190	9	.	.	.	.	17.626	0.88095	0.0:0.0:1.0:0.0	.	362	Q8NFY9	KBTB8_HUMAN	I	336;362	ENSP00000295568:M336I;ENSP00000401878:M362I	.	M	+	3	0	KBTBD8	67137167	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.549000	0.73900	2.676000	0.91093	0.557000	0.71058	ATG		0.433	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1		NM_032505	
KEL	3792	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	142655413	142655413	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr7:142655413G>A	ENST00000355265.2	-	5	977	c.503C>T	c.(502-504)cCc>cTc	p.P168L	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	168					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.P168L(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TTGTCTGAGGGGACCAGTCCC	0.473																																																	1	Substitution - Missense(1)	kidney(1)											99.0	94.0	96.0					7																	142655413		2203	4300	6503	SO:0001583	missense	3792			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.503C>T	7.37:g.142655413G>A	ENSP00000347409:p.Pro168Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529614	0.85706	.	.	ENSG00000197993	ENST00000355265;ENST00000476829;ENST00000467543	T;T;T	0.79940	-1.32;-1.32;-1.32	5.82	5.82	0.92795	Peptidase M13 (1);	0.117288	0.38778	N	0.001573	D	0.85570	0.5727	L	0.58101	1.795	0.58432	D	0.999999	P	0.51537	0.946	P	0.56514	0.8	D	0.86525	0.1818	10	0.87932	D	0	-0.7561	15.5946	0.76569	0.0:0.0:1.0:0.0	.	168	P23276	KELL_HUMAN	L	168;168;149	ENSP00000347409:P168L;ENSP00000419889:P168L;ENSP00000420011:P149L	ENSP00000347409:P168L	P	-	2	0	KEL	142365535	1.000000	0.71417	0.992000	0.48379	0.928000	0.56348	5.111000	0.64628	2.752000	0.94435	0.585000	0.79938	CCC		0.473	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2		NM_000420	
TLDC1	57707	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	84516270	84516270	+	Silent	SNP	C	C	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr16:84516270C>T	ENST00000343629.6	-	6	1187	c.1005G>A	c.(1003-1005)gtG>gtA	p.V335V	TLDC1_ENST00000535580.1_Silent_p.V308V	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	335	TLD.					lysosomal membrane (GO:0005765)		p.V335V(1)									TGTGTGTGTACACAGCCATGC	0.562																																																	1	Substitution - coding silent(1)	kidney(1)											171.0	129.0	143.0					16																	84516270		2200	4300	6500	SO:0001819	synonymous_variant	57707			AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.1005G>A	16.37:g.84516270C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8IZ64|Q9HCG3|Q9NTE8	Silent	SNP	ENST00000343629.6	37	CCDS32498.1																																																																																				0.562	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1		NM_020947	
KRT72	140807	hgsc.bcm.edu;ucsc.edu	37	12	52981581	52981581	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr12:52981581delG	ENST00000537672.2	-	7	1154	c.1144delC	c.(1144-1146)ctgfs	p.L382fs	KRT72_ENST00000354310.4_Frame_Shift_Del_p.L340fs|KRT72_ENST00000293745.2_Frame_Shift_Del_p.L382fs|KRT72_ENST00000398066.3_Frame_Shift_Del_p.L194fs	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	382	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GCATCTTTCAGGGCGCAGTCC	0.637																																																	0													57.0	55.0	56.0					12																	52981581		2203	4300	6503	SO:0001589	frameshift_variant	140807			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1144delC	12.37:g.52981581delG	ENSP00000441160:p.Leu382fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Frame_Shift_Del	DEL	ENST00000537672.2	37	CCDS8833.1																																																																																				0.637	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1		NM_080747	
MUC21	394263	broad.mit.edu;hgsc.bcm.edu	37	6	30954884	30954884	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr6:30954884G>C	ENST00000376296.3	+	2	1173	c.932G>C	c.(931-933)gGg>gCg	p.G311A	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	311	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G311A(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCTCCAGTGGGGCCAACACA	0.607																																																	1	Substitution - Missense(1)	kidney(1)											162.0	156.0	158.0					6																	30954884		2203	4300	6503	SO:0001583	missense	394263			AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.932G>C	6.37:g.30954884G>C	ENSP00000365473:p.Gly311Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.416862	0.01136	.	.	ENSG00000204544	ENST00000376296	T	0.01685	4.69	3.74	-3.0	0.05480	.	.	.	.	.	T	0.00384	0.0012	N	0.24115	0.695	0.09310	N	1	P	0.37101	0.582	B	0.31686	0.134	T	0.44251	-0.9340	8	.	.	.	0.0454	5.3409	0.15982	0.336:0.2526:0.4114:0.0	.	311	Q5SSG8	MUC21_HUMAN	A	311	ENSP00000365473:G311A	.	G	+	2	0	MUC21	31062863	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.276000	0.02815	-0.720000	0.04935	-0.339000	0.08088	GGG		0.607	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3		NM_001010909	
MXRA5	25878	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	3228209	3228209	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chrX:3228209G>T	ENST00000217939.6	-	7	8189	c.8035C>A	c.(8035-8037)Ctg>Atg	p.L2679M		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2679	Ig-like C2-type 11.					extracellular vesicular exosome (GO:0070062)		p.L2679M(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGGCCCTCCAGATGCATGCCA	0.612																																																	2	Substitution - Missense(2)	kidney(2)											47.0	46.0	47.0					X																	3228209		2203	4300	6503	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.8035C>A	X.37:g.3228209G>T	ENSP00000217939:p.Leu2679Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	8.959	0.970075	0.18659	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.17691	2.26	4.34	-3.73	0.04398	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.31210	U	0.008045	T	0.35998	0.0951	M	0.88842	2.985	0.09310	N	1	D	0.60575	0.988	D	0.68192	0.956	T	0.10941	-1.0608	10	0.51188	T	0.08	.	6.4151	0.21712	0.4334:0.0:0.3771:0.1895	.	2679	Q9NR99	MXRA5_HUMAN	M	2679	ENSP00000217939:L2679M	ENSP00000217939:L2679M	L	-	1	2	MXRA5	3238209	0.164000	0.22935	0.000000	0.03702	0.002000	0.02628	0.419000	0.21247	-0.914000	0.03827	0.509000	0.49947	CTG		0.612	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2		NM_015419	
NOX4	50507	broad.mit.edu;hgsc.bcm.edu	37	11	89135577	89135577	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr11:89135577A>T	ENST00000263317.4	-	9	1001	c.763T>A	c.(763-765)Ttt>Att	p.F255I	NOX4_ENST00000527626.1_Missense_Mutation_p.F89I|NOX4_ENST00000532825.1_Missense_Mutation_p.F231I|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000413594.2_Missense_Mutation_p.F276I|NOX4_ENST00000534731.1_Missense_Mutation_p.F255I|NOX4_ENST00000528341.1_Missense_Mutation_p.F230I|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527956.1_Missense_Mutation_p.F231I|NOX4_ENST00000542487.1_Missense_Mutation_p.F231I|NOX4_ENST00000424319.1_Missense_Mutation_p.F231I|NOX4_ENST00000343727.5_Missense_Mutation_p.F231I|NOX4_ENST00000535633.1_Missense_Mutation_p.F231I			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	255	Ferric oxidoreductase.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|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 protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.F255I(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GGTTTTGAAAATCCTTCAGGG	0.423																																																	1	Substitution - Missense(1)	kidney(1)											81.0	89.0	86.0					11																	89135577		2201	4298	6499	SO:0001583	missense	50507			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.763T>A	11.37:g.89135577A>T	ENSP00000263317:p.Phe255Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	A	1.482	-0.557054	0.03967	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	D;D;D;D;D;D;D;D;D;D;D	0.94931	-3.5;-3.5;-3.5;-3.47;-3.43;-3.56;-3.5;-3.5;-3.24;-3.47;-3.54	4.07	-1.49	0.08718	.	0.840445	0.10600	N	0.655757	D	0.88437	0.6436	L	0.44542	1.39	0.09310	N	1	B;B;B;B;B	0.23650	0.072;0.031;0.031;0.089;0.006	B;B;B;B;B	0.20184	0.028;0.02;0.013;0.028;0.003	T	0.74931	-0.3496	9	.	.	.	-1.4638	3.6872	0.08332	0.5259:0.0:0.2258:0.2482	.	231;89;230;255;255	E9PMY6;E9PR43;E9PPP2;Q9NPH5-6;Q9NPH5	.;.;.;.;NOX4_HUMAN	I	231;231;231;255;255;231;231;231;89;230;276	ENSP00000412446:F231I;ENSP00000440172:F231I;ENSP00000344747:F231I;ENSP00000436892:F255I;ENSP00000263317:F255I;ENSP00000434924:F231I;ENSP00000433797:F231I;ENSP00000439373:F231I;ENSP00000436093:F89I;ENSP00000436970:F230I;ENSP00000405705:F276I	.	F	-	1	0	NOX4	88775225	0.651000	0.27340	0.021000	0.16686	0.015000	0.08874	0.921000	0.28718	-0.540000	0.06265	0.383000	0.25322	TTT		0.423	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1		NM_016931	
NT5DC3	51559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	104186991	104186991	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr12:104186991C>A	ENST00000392876.3	-	9	1010	c.970G>T	c.(970-972)Gtg>Ttg	p.V324L		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	324						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.V324L(1)|p.V249L(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						ACAATGACCACATCGAACAGG	0.423																																																	2	Substitution - Missense(2)	kidney(2)											195.0	204.0	201.0					12																	104186991		2203	4300	6503	SO:0001583	missense	51559			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.970G>T	12.37:g.104186991C>A	ENSP00000376615:p.Val324Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	35	5.475590	0.96291	.	.	ENSG00000111696	ENST00000392876	T	0.25749	1.78	5.99	5.99	0.97316	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.43122	0.1233	L	0.58302	1.8	0.80722	D	1	P	0.50443	0.935	P	0.53760	0.734	T	0.02893	-1.1097	10	0.39692	T	0.17	-45.3761	20.4777	0.99188	0.0:1.0:0.0:0.0	.	324	Q86UY8	NT5D3_HUMAN	L	324	ENSP00000376615:V324L	ENSP00000376615:V324L	V	-	1	0	NT5DC3	102711121	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.840000	0.97914	0.655000	0.94253	GTG		0.423	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2		NM_016575	
OR4K15	81127	broad.mit.edu;ucsc.edu	37	14	20444219	20444219	+	Missense_Mutation	SNP	C	C	T	rs199987412		TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr14:20444219C>T	ENST00000305051.5	+	1	617	c.542C>T	c.(541-543)aCc>aTc	p.T181I		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T181I(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCATACTACCAGCCAGTTG	0.448																																																	1	Substitution - Missense(1)	kidney(1)						C	ILE/THR	1,4405		0,1,2202	145.0	146.0	146.0		542	1.0	0.3	14		146	0,8598		0,0,4299	no	missense	OR4K15	NM_001005486.1	89	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	181/349	20444219	1,13003	2203	4299	6502	SO:0001583	missense	81127				CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.542C>T	14.37:g.20444219C>T	ENSP00000304077:p.Thr181Ile	Somatic		WXS	Illumina GAIIx	Phase_I	B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	0.250	-1.007336	0.02112	2.27E-4	0.0	ENSG00000169488	ENST00000305051	T	0.00042	8.84	3.98	1.04	0.20106	GPCR, rhodopsin-like superfamily (1);	0.133396	0.34777	N	0.003696	T	0.00039	0.0001	N	0.01431	-0.87	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.12192	-1.0557	10	0.07325	T	0.83	.	7.8576	0.29491	0.0:0.698:0.0:0.302	.	181	Q8NH41	OR4KF_HUMAN	I	181	ENSP00000304077:T181I	ENSP00000304077:T181I	T	+	2	0	OR4K15	19514059	0.000000	0.05858	0.270000	0.24601	0.343000	0.28985	-0.186000	0.09670	0.345000	0.23873	0.585000	0.79938	ACC		0.448	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			
PDPN	10630	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	13936955	13936955	+	Missense_Mutation	SNP	C	C	T	rs189019995		TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr1:13936955C>T	ENST00000509009.1	+	3	304	c.260C>T	c.(259-261)gCg>gTg	p.A87V	PDPN_ENST00000487038.1_Missense_Mutation_p.A50V|PDPN_ENST00000376057.4_Missense_Mutation_p.A168V|PDPN_ENST00000475043.1_Missense_Mutation_p.A50V|PDPN_ENST00000513143.1_Missense_Mutation_p.A50V|PDPN_ENST00000294489.6_Missense_Mutation_p.A168V|PDPN_ENST00000376061.4_Missense_Mutation_p.A50V					podoplanin									p.A168V(1)		endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		ACAGTCCACGCGCAAGAACAA	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		18779	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)						C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	124.0	113.0	116.0		503,503,149,149	-1.6	0.0	1		116	0,8600		0,0,4300	yes	missense,missense,missense,missense	PDPN	NM_198389.2,NM_006474.4,NM_001006625.1,NM_001006624.1	64,64,64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	168/237,168/239,50/119,50/121	13936955	1,13005	2203	4300	6503	SO:0001583	missense	10630			AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"""lung type I cell membrane associated glycoprotein"""	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000509009.1:c.260C>T	1.37:g.13936955C>T	ENSP00000422977:p.Ala87Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000509009.1	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.51	1.959758	0.34565	2.27E-4	0.0	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906;ENST00000509009;ENST00000376061;ENST00000513143;ENST00000487038;ENST00000475043	T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	4.28	-1.63	0.08345	.	0.819946	0.10720	N	0.641896	T	0.18718	0.0449	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.24675	0.109;0.109;0.089;0.089	B;B;B;B	0.19148	0.01;0.01;0.024;0.024	T	0.22730	-1.0208	10	0.42905	T	0.14	0.5252	2.2239	0.03979	0.3274:0.2558:0.318:0.0988	.	92;50;168;168	Q86YL7;E9PB68;Q86YL7-3;Q86YL7-4	PDPN_HUMAN;.;.;.	V	168;168;159;87;50;50;50;50	ENSP00000294489:A168V;ENSP00000365225:A168V;ENSP00000426302:A159V;ENSP00000422977:A87V;ENSP00000365229:A50V;ENSP00000425304:A50V;ENSP00000427537:A50V;ENSP00000426063:A50V	ENSP00000294489:A168V	A	+	2	0	PDPN	13809542	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.378000	0.01068	-0.250000	0.09555	0.650000	0.86243	GCG		0.507	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367736.1		NM_006474	
POC5	134359	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	74981284	74981284	+	Missense_Mutation	SNP	C	C	A	rs202094495	byFrequency	TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr5:74981284C>A	ENST00000428202.2	-	10	1344	c.1155G>T	c.(1153-1155)aaG>aaT	p.K385N	POC5_ENST00000446329.2_Missense_Mutation_p.K360N|POC5_ENST00000380475.2_Missense_Mutation_p.K268N|POC5_ENST00000510798.1_Missense_Mutation_p.K268N|POC5_ENST00000514838.2_Missense_Mutation_p.K357N	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	385					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.K359N(1)|p.K385N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CATACTCTTCCTTTTTATTAT	0.388																																																	2	Substitution - Missense(2)	kidney(2)											166.0	173.0	171.0					5																	74981284		1905	4132	6037	SO:0001583	missense	134359			AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 37"", ""POC5 centriolar protein homolog (Chlamydomonas)"""	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.1155G>T	5.37:g.74981284C>A	ENSP00000410216:p.Lys385Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	ENST00000428202.2	37	CCDS47236.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293649	0.23564	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000380475;ENST00000510798;ENST00000446329	T;T;T;T;T	0.49139	1.83;1.42;0.79;0.79;1.83	4.36	1.64	0.23874	.	0.389863	0.32357	N	0.006216	T	0.35393	0.0930	L	0.52364	1.645	0.28941	N	0.890997	B;B;B	0.17268	0.021;0.008;0.003	B;B;B	0.15484	0.013;0.005;0.005	T	0.26087	-1.0113	10	0.51188	T	0.08	-9.0762	4.1139	0.10072	0.1829:0.6241:0.0:0.193	.	268;385;360	Q8NA72-2;Q8NA72;Q8NA72-3	.;POC5_HUMAN;.	N	385;357;268;268;360	ENSP00000410216:K385N;ENSP00000420971:K357N;ENSP00000369842:K268N;ENSP00000426796:K268N;ENSP00000399481:K360N	ENSP00000369842:K268N	K	-	3	2	POC5	75017040	0.310000	0.24527	0.734000	0.30879	0.827000	0.46813	-0.286000	0.08399	0.362000	0.24319	-0.268000	0.10319	AAG		0.388	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1		NM_152408	
PRKD2	25865	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	47181735	47181735	+	Silent	SNP	G	G	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr19:47181735G>A	ENST00000291281.4	-	16	2481	c.2256C>T	c.(2254-2256)aaC>aaT	p.N752N	PRKD2_ENST00000593492.1_5'Flank|PRKD2_ENST00000595515.1_Silent_p.N752N|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000600194.1_Silent_p.N595N|PRKD2_ENST00000433867.1_Silent_p.N752N|PRKD2_ENST00000601806.1_Silent_p.N595N			Q9BZL6	KPCD2_HUMAN	protein kinase D2	752	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.N752N(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CCTCATCCTCGTTGAAAGGGA	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											167.0	126.0	140.0					19																	47181735		2203	4300	6503	SO:0001819	synonymous_variant	25865			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2256C>T	19.37:g.47181735G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	CCDS12689.1																																																																																				0.617	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1		NM_016457	
PTCHD1	139411	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	23410647	23410647	+	Splice_Site	SNP	G	G	C			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chrX:23410647G>C	ENST00000379361.4	+	3	1872		c.e3-1			NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1						cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.?(2)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TGCCCTCTTAGGTCATGGATT	0.403																																																	2	Unknown(2)	kidney(2)											59.0	54.0	56.0					X																	23410647		2203	4300	6503	SO:0001630	splice_region_variant	139411			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1013-1G>C	X.37:g.23410647G>C		Somatic		WXS	Illumina HiSeq	Phase_I	B4DQH0|Q0IJ60|Q6P6B8	Splice_Site	SNP	ENST00000379361.4	37	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168919	0.38315	.	.	ENSG00000165186	ENST00000379361;ENST00000456522	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8012	0.85615	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTCHD1	23320568	1.000000	0.71417	0.999000	0.59377	0.860000	0.49131	9.208000	0.95075	2.230000	0.72887	0.544000	0.68410	.		0.403	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2		NM_173495	Intron
PZP	5858	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	9321469	9321469	+	Silent	SNP	A	A	G			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr12:9321469A>G	ENST00000261336.2	-	17	2131	c.2103T>C	c.(2101-2103)taT>taC	p.Y701Y	PZP_ENST00000381997.2_Silent_p.Y570Y|PZP_ENST00000539983.1_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	701	Bait region.				female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Y701Y(1)|p.Y570Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTTTACCTCCATAGTATCCTT	0.388																																					Melanoma(125;1402 1695 4685 34487 38571)												2	Substitution - coding silent(2)	kidney(2)											117.0	115.0	116.0					12																	9321469		2203	4300	6503	SO:0001819	synonymous_variant	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2103T>C	12.37:g.9321469A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	CCDS8600.1																																																																																				0.388	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1		NM_002864	
RPL22L1	200916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	170584196	170584196	+	Silent	SNP	A	A	G			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr3:170584196A>G	ENST00000295830.8	-	4	657	c.342T>C	c.(340-342)gaT>gaC	p.D114D	RPL22L1_ENST00000463836.1_Silent_p.D113D	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	114					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)	p.D114D(1)		kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			ATTCATCTTCATCTTGACTAA	0.393																																																	1	Substitution - coding silent(1)	kidney(1)											49.0	45.0	47.0					3																	170584196		1836	4095	5931	SO:0001819	synonymous_variant	200916			BC062731	CCDS46955.1	3q26.2	2005-08-09			ENSG00000163584	ENSG00000163584			27610	protein-coding gene	gene with protein product							Standard	NM_001099645		Approved		uc003fhc.4	Q6P5R6	OTTHUMG00000158957	ENST00000295830.8:c.342T>C	3.37:g.170584196A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q32Q77	Silent	SNP	ENST00000295830.8	37	CCDS46955.1																																																																																				0.393	RPL22L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352586.2		XM_114317	
RSF1	51773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	77378304	77378304	+	Silent	SNP	C	C	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr11:77378304C>T	ENST00000308488.6	-	16	4286	c.3984G>A	c.(3982-3984)agG>agA	p.R1328R	RSF1_ENST00000480887.1_Silent_p.R1076R|RSF1_ENST00000360355.2_Silent_p.R1297R			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1328					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.R1328R(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AGGGCAGGACCCTAGGCTGGC	0.537																																																	1	Substitution - coding silent(1)	kidney(1)											129.0	120.0	123.0					11																	77378304		2200	4292	6492	SO:0001819	synonymous_variant	51773			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3984G>A	11.37:g.77378304C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Silent	SNP	ENST00000308488.6	37	CCDS8253.1																																																																																				0.537	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2		NM_016578	
SPG21	51324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	65255989	65255989	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr15:65255989C>A	ENST00000204566.2	-	9	1194	c.899G>T	c.(898-900)aGc>aTc	p.S300I	SPG21_ENST00000559199.1_Missense_Mutation_p.S146I|SPG21_ENST00000433215.2_Missense_Mutation_p.S300I|SPG21_ENST00000416889.2_Missense_Mutation_p.S273I	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	300					antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)	p.S300I(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						GATGCCAAGGCTGCCTTTCTG	0.517																																																	1	Substitution - Missense(1)	kidney(1)											158.0	134.0	142.0					15																	65255989		2202	4299	6501	SO:0001583	missense	51324			AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"""maspardin"""	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.899G>T	15.37:g.65255989C>A	ENSP00000204566:p.Ser300Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B4DW44|Q6ZMB6	Missense_Mutation	SNP	ENST00000204566.2	37	CCDS10198.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302551	0.23736	.	.	ENSG00000090487	ENST00000204566;ENST00000416889;ENST00000433215	.	.	.	5.8	-4.33	0.03677	.	0.951746	0.08970	N	0.867357	T	0.23806	0.0576	N	0.08118	0	0.09310	N	1	B;B	0.21381	0.037;0.055	B;B	0.16722	0.016;0.015	T	0.12785	-1.0534	9	0.41790	T	0.15	-12.9004	16.4186	0.83751	0.0:0.6987:0.0:0.3013	.	273;300	Q9NZD8-2;Q9NZD8	.;SPG21_HUMAN	I	300;273;300	.	ENSP00000204566:S300I	S	-	2	0	SPG21	63043042	0.391000	0.25221	0.517000	0.27799	0.534000	0.34807	-0.081000	0.11321	-0.697000	0.05092	-0.302000	0.09304	AGC		0.517	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256758.3		NM_016630	
SRSF4	6429	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	29481370	29481370	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr1:29481370C>A	ENST00000373795.4	-	4	650	c.416G>T	c.(415-417)cGc>cTc	p.R139L	SRSF4_ENST00000466448.1_5'UTR|RP11-242O24.5_ENST00000450108.1_RNA|SRSF4_ENST00000546138.1_Intron	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	139	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R139L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						TTCATTTTTGCGTCCCTTGTG	0.358																																																	1	Substitution - Missense(1)	kidney(1)											103.0	102.0	102.0					1																	29481370		2203	4300	6503	SO:0001583	missense	6429			BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.416G>T	1.37:g.29481370C>A	ENSP00000362900:p.Arg139Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP	ENST00000373795.4	37	CCDS333.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750078	0.89753	.	.	ENSG00000116350	ENST00000373795;ENST00000434636	T	0.15952	2.38	5.47	4.56	0.56223	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	M	0.84219	2.685	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	T	0.51084	-0.8750	10	0.87932	D	0	.	13.6944	0.62569	0.0:0.9255:0.0:0.0745	.	139	Q08170	SRSF4_HUMAN	L	139	ENSP00000362900:R139L	ENSP00000362900:R139L	R	-	2	0	SRSF4	29353957	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.358000	0.79466	1.432000	0.47375	-0.145000	0.13849	CGC		0.358	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1		NM_005626	
SYTL2	54843	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	85416035	85416035	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr11:85416035A>C	ENST00000528231.1	-	14	2417	c.2140T>G	c.(2140-2142)Ttg>Gtg	p.L714V	SYTL2_ENST00000524452.1_Missense_Mutation_p.L690V|SYTL2_ENST00000359152.5_Missense_Mutation_p.L1560V|SYTL2_ENST00000525702.1_Missense_Mutation_p.L156V|SYTL2_ENST00000316356.4_Missense_Mutation_p.L715V|SYTL2_ENST00000389960.4_Missense_Mutation_p.L690V|SYTL2_ENST00000529581.1_Missense_Mutation_p.L156V|SYTL2_ENST00000525423.1_Missense_Mutation_p.L1036V|SYTL2_ENST00000533892.1_Missense_Mutation_p.L116V|SYTL2_ENST00000354566.3_Missense_Mutation_p.L1052V|SYTL2_ENST00000389958.3_Missense_Mutation_p.L145V|SYTL2_ENST00000527523.1_Missense_Mutation_p.L682V	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	714	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.L715V(1)|p.L1052V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GACAGGTTCAATTTCTGTGTC	0.343																																																	2	Substitution - Missense(2)	kidney(2)											135.0	126.0	129.0					11																	85416035		2203	4299	6502	SO:0001583	missense	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.2140T>G	11.37:g.85416035A>C	ENSP00000431701:p.Leu714Val	Somatic		WXS	Illumina HiSeq	Phase_I	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.584243	0.65992	.	.	ENSG00000137501	ENST00000389960;ENST00000359152;ENST00000354566;ENST00000316356;ENST00000525702;ENST00000525423;ENST00000529581;ENST00000389958;ENST00000530351;ENST00000528231;ENST00000533892;ENST00000527523;ENST00000524452;ENST00000533057;ENST00000527794	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.44	2.56	0.30785	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.43612	0.1255	M	0.79614	2.46	0.54753	D	0.999986	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;0.999;0.994;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.976;1.0;1.0;0.966;1.0;0.996;0.975;1.0;1.0;0.999	T	0.20605	-1.0270	9	.	.	.	-5.6823	10.1255	0.42648	0.2196:0.0:0.7804:0.0	.	682;690;714;715;532;1012;1036;1052;145;116	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15;Q9HCH5-11;Q9HCH5-7;Q9HCH5-8;Q9HCH5-9;Q9HCH5-4	.;.;SYTL2_HUMAN;.;.;.;.;.;.;.	V	690;1560;1052;715;156;1036;156;145;431;714;116;682;690;80;116	ENSP00000374610:L690V;ENSP00000352065:L1560V;ENSP00000346576:L1052V;ENSP00000318803:L715V;ENSP00000432996:L156V;ENSP00000432694:L1036V;ENSP00000435855:L156V;ENSP00000374608:L145V;ENSP00000435009:L431V;ENSP00000431701:L714V;ENSP00000432144:L116V;ENSP00000434010:L682V;ENSP00000435238:L690V;ENSP00000436164:L80V;ENSP00000437005:L116V	.	L	-	1	2	SYTL2	85093683	0.992000	0.36948	0.988000	0.46212	0.852000	0.48524	2.057000	0.41365	0.260000	0.21731	-0.251000	0.11542	TTG		0.343	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1		NM_206927	
TERT	7015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	1282650	1282650	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr5:1282650C>G	ENST00000310581.5	-	3	1720	c.1663G>C	c.(1663-1665)Gag>Cag	p.E555Q	TERT_ENST00000334602.6_Missense_Mutation_p.E555Q|TERT_ENST00000508104.2_Missense_Mutation_p.E555Q|TERT_ENST00000296820.5_Missense_Mutation_p.E555Q	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	555					DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)	p.E555Q(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CTGAGCAGCTCGACGACGTAC	0.527									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																								2	Substitution - Missense(2)	kidney(2)											132.0	121.0	125.0					5																	1282650		2203	4300	6503	SO:0001583	missense	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1663G>C	5.37:g.1282650C>G	ENSP00000309572:p.Glu555Gln	Somatic		WXS	Illumina HiSeq	Phase_I	O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	7.167	0.586967	0.13749	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03	4.64	3.74	0.42951	Telomerase ribonucleoprotein complex - RNA-binding domain (2);	0.366373	0.30593	N	0.009285	T	0.80088	0.4559	L	0.28192	0.835	0.27626	N	0.94818	B;P;B	0.40032	0.14;0.699;0.169	B;P;B	0.46419	0.142;0.516;0.222	T	0.69756	-0.5059	10	0.18276	T	0.48	-0.2338	13.0319	0.58847	0.0:0.6773:0.3227:0.0	.	555;555;555	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	Q	555	ENSP00000309572:E555Q;ENSP00000296820:E555Q;ENSP00000334346:E555Q;ENSP00000426042:E555Q	ENSP00000296820:E555Q	E	-	1	0	TERT	1335650	0.268000	0.24133	0.139000	0.22197	0.043000	0.13939	0.808000	0.27154	0.889000	0.36185	0.462000	0.41574	GAG		0.527	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			
TNN	63923	broad.mit.edu;hgsc.bcm.edu	37	1	175046949	175046949	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr1:175046949G>A	ENST00000239462.4	+	2	508	c.395G>A	c.(394-396)tGc>tAc	p.C132Y		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	132					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.C132Y(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGCGCTGCTGCCAGGGAGTC	0.542																																																	1	Substitution - Missense(1)	kidney(1)											41.0	45.0	43.0					1																	175046949		2203	4300	6503	SO:0001583	missense	63923			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.395G>A	1.37:g.175046949G>A	ENSP00000239462:p.Cys132Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.625702	0.66901	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.33216	1.42	5.51	5.51	0.81932	.	0.280869	0.42964	D	0.000636	T	0.58337	0.2115	M	0.77712	2.385	0.51233	D	0.999919	D;D	0.76494	0.998;0.999	D;D	0.81914	0.967;0.995	T	0.61792	-0.6990	10	0.72032	D	0.01	.	17.2045	0.86914	0.0:0.0:1.0:0.0	.	132;132	B3KXB6;Q9UQP3	.;TENN_HUMAN	Y	132	ENSP00000239462:C132Y	ENSP00000239462:C132Y	C	+	2	0	TNN	173313572	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	6.943000	0.75934	2.600000	0.87896	0.655000	0.94253	TGC		0.542	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1		XM_040527	
TRAFD1	10906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	112580008	112580008	+	Silent	SNP	A	A	G			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr12:112580008A>G	ENST00000257604.5	+	6	1376	c.759A>G	c.(757-759)caA>caG	p.Q253Q	TRAFD1_ENST00000412615.2_Silent_p.Q253Q	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	253					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)	p.Q253Q(1)		kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						ATGAAGGCCAAGCCTCCAGTG	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											107.0	105.0	106.0					12																	112580008		2203	4300	6503	SO:0001819	synonymous_variant	10906			AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.759A>G	12.37:g.112580008A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K5L6|B4DI89	Silent	SNP	ENST00000257604.5	37	CCDS9160.1																																																																																				0.557	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1		NM_006700	
TRMT6	51605	broad.mit.edu;ucsc.edu	37	20	5924213	5924213	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr20:5924213C>T	ENST00000203001.2	-	6	789	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Missense_Mutation_p.R50Q	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	220					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.R220Q(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ACCTCCCATTCGTTCCATCAT	0.428																																																	1	Substitution - Missense(1)	kidney(1)											173.0	160.0	164.0					20																	5924213		2203	4300	6503	SO:0001583	missense	51605			AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.659G>A	20.37:g.5924213C>T	ENSP00000203001:p.Arg220Gln	Somatic		WXS	Illumina GAIIx	Phase_I	B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Missense_Mutation	SNP	ENST00000203001.2	37	CCDS13093.1	.	.	.	.	.	.	.	.	.	.	C	33	5.286119	0.95517	.	.	ENSG00000089195	ENST00000203001;ENST00000453074	T;T	0.55760	0.5;0.81	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.75148	0.3810	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73392	-0.3997	10	0.45353	T	0.12	-6.6825	20.3465	0.98790	0.0:1.0:0.0:0.0	.	50;220	B4DUV6;Q9UJA5	.;TRM6_HUMAN	Q	220;50	ENSP00000203001:R220Q;ENSP00000392070:R50Q	ENSP00000203001:R220Q	R	-	2	0	TRMT6	5872213	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.487000	0.81328	2.798000	0.96311	0.655000	0.94253	CGA		0.428	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2			
TRRAP	8295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	98601971	98601971	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr7:98601971G>C	ENST00000359863.4	+	67	10635	c.10426G>C	c.(10426-10428)Gct>Cct	p.A3476P	TRRAP_ENST00000446306.3_Missense_Mutation_p.A3465P|TRRAP_ENST00000355540.3_Missense_Mutation_p.A3447P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3476					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.A3447P(1)|p.A3476P(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCACAGACAGCTGAAGTGGA	0.488																																																	2	Substitution - Missense(2)	kidney(2)											91.0	98.0	95.0					7																	98601971		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10426G>C	7.37:g.98601971G>C	ENSP00000352925:p.Ala3476Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.271991|5.271991	0.95429|0.95429	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.80214|.	-1.35;-1.35|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82370|0.82370	0.5022|0.5022	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;0.999|.	T|T	0.83080|0.83080	-0.0138|-0.0138	10|5	0.36615|.	T|.	0.2|.	.|.	19.3185|19.3185	0.94226|0.94226	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3447;3204;3476|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	P|H	3476;3447;3464|3204	ENSP00000352925:A3476P;ENSP00000347733:A3447P|.	ENSP00000347733:A3447P|.	A|Q	+|+	1|3	0|2	TRRAP|TRRAP	98439907|98439907	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.869000|9.869000	0.99810|0.99810	2.574000|2.574000	0.86865|0.86865	0.650000|0.650000	0.86243|0.86243	GCT|CAG		0.488	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1		NM_003496	
TSHZ3	57616	broad.mit.edu;hgsc.bcm.edu	37	19	31768041	31768041	+	Silent	SNP	C	C	T	rs562309986	byFrequency	TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr19:31768041C>T	ENST00000240587.4	-	2	2985	c.2658G>A	c.(2656-2658)acG>acA	p.T886T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	886					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T703T(3)|p.T886T(3)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCTGGGCGGGCGTCGACTCCT	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		14687	0.0		0.0	False		,,,				2504	0.002																6	Substitution - coding silent(6)	endometrium(4)|kidney(2)											38.0	36.0	37.0					19																	31768041		2203	4300	6503	SO:0001819	synonymous_variant	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2658G>A	19.37:g.31768041C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	CCDS12421.2																																																																																				0.612	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2		NM_020856	
VPS41	27072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	38857441	38857441	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr7:38857441C>A	ENST00000310301.4	-	7	480	c.426G>T	c.(424-426)aaG>aaT	p.K142N	VPS41_ENST00000395969.2_Missense_Mutation_p.K117N	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	142					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)	p.K142N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TCACAAACTGCTTGCAACTGG	0.443																																																	1	Substitution - Missense(1)	kidney(1)											206.0	173.0	184.0					7																	38857441		2203	4300	6503	SO:0001583	missense	27072			U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.426G>T	7.37:g.38857441C>A	ENSP00000309457:p.Lys142Asn	Somatic		WXS	Illumina HiSeq	Phase_I	E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656173	0.67586	.	.	ENSG00000006715	ENST00000310301;ENST00000395969;ENST00000413141;ENST00000414632;ENST00000418457	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.01	4.13	0.48395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65657	0.2712	L	0.54323	1.7	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.65038	-0.6265	10	0.46703	T	0.11	-18.7305	11.8911	0.52630	0.0:0.9179:0.0:0.0821	.	142;117;142	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	N	142;117;68;129;92	ENSP00000309457:K142N;ENSP00000379297:K117N;ENSP00000412974:K68N;ENSP00000411919:K129N;ENSP00000407835:K92N	ENSP00000265745:K142N	K	-	3	2	VPS41	38823966	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	2.423000	0.44705	1.101000	0.41535	0.460000	0.39030	AAG		0.443	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			
WDR18	57418	broad.mit.edu;ucsc.edu	37	19	990274	990274	+	Silent	SNP	T	T	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr19:990274T>A	ENST00000251289.5	+	4	530	c.507T>A	c.(505-507)tcT>tcA	p.S169S	WDR18_ENST00000587001.2_Silent_p.S169S|WDR18_ENST00000591997.1_3'UTR	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	169					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S169S(1)		endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTCTGGTCTCACCACGCGC	0.721																																																	1	Substitution - coding silent(1)	kidney(1)											21.0	22.0	22.0					19																	990274		2192	4294	6486	SO:0001819	synonymous_variant	57418				CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"""WD repeat domain containing"""	17956	protein-coding gene	gene with protein product	"""Involved in Processing ITS2 3 homolog (S. cerevisiae)"""					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.507T>A	19.37:g.990274T>A		Somatic		WXS	Illumina GAIIx	Phase_I	O60390|Q9BWR2	Silent	SNP	ENST00000251289.5	37	CCDS12051.1																																																																																				0.721	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			
WNK2	65268	broad.mit.edu;ucsc.edu	37	9	96002217	96002217	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr9:96002217G>T	ENST00000297954.4	+	6	1501	c.1501G>T	c.(1501-1503)Gac>Tac	p.D501Y	WNK2_ENST00000349097.3_Missense_Mutation_p.D113Y|WNK2_ENST00000395477.2_Missense_Mutation_p.D501Y|WNK2_ENST00000395475.2_Missense_Mutation_p.D487Y|WNK2_ENST00000427277.2_Missense_Mutation_p.D113Y|WNK2_ENST00000356055.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	501					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D501Y(1)|p.D487Y(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GTTCACCTTCGACCTGGAGAA	0.582																																																	2	Substitution - Missense(2)	kidney(2)											55.0	47.0	50.0					9																	96002217		2203	4297	6500	SO:0001583	missense	65268			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.1501G>T	9.37:g.96002217G>T	ENSP00000297954:p.Asp501Tyr	Somatic		WXS	Illumina GAIIx	Phase_I	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.19|18.19	3.568702|3.568702	0.65651|0.65651	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475;ENST00000349097;ENST00000427277|ENST00000411624	T;T;T;T;T;T|.	0.37235|.	1.21;1.21;1.21;1.21;1.21;1.21|.	4.59|4.59	4.59|4.59	0.56863|0.56863	Serine/threonine-protein kinase OSR1/WNK, CCT domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71333|0.71333	0.3327|0.3327	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.999;0.997;0.999;0.999;0.999|.	T|T	0.70575|0.70575	-0.4834|-0.4834	10|5	0.87932|.	D|.	0|.	.|.	17.7431|17.7431	0.88412|0.88412	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	501;501;104;501;501|.	Q9Y3S1-2;Q9Y3S1-4;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;.;WNK2_HUMAN|.	Y|L	501;501;501;487;113;113|104	ENSP00000412465:D501Y;ENSP00000297954:D501Y;ENSP00000378860:D501Y;ENSP00000378858:D487Y;ENSP00000297876:D113Y;ENSP00000411181:D113Y|.	ENSP00000297954:D501Y|.	D|R	+|+	1|2	0|0	WNK2|WNK2	95042038|95042038	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.976000|0.976000	0.68499|0.68499	9.673000|9.673000	0.98631|0.98631	2.241000|2.241000	0.73720|0.73720	0.462000|0.462000	0.41574|0.41574	GAC|CGA		0.582	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1		NM_006648	
ZNF274	10782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	58723904	58723904	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr19:58723904C>T	ENST00000326804.4	+	9	1813	c.1354C>T	c.(1354-1356)Cgt>Tgt	p.R452C	ZNF274_ENST00000345813.3_Missense_Mutation_p.R420C|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Missense_Mutation_p.R347C	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R420C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ATTGCGCAAACGTGACTCACA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											101.0	100.0	101.0					19																	58723904		2006	4183	6189	SO:0001583	missense	10782			AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.1354C>T	19.37:g.58723904C>T	ENSP00000321209:p.Arg452Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Silent	SNP	ENST00000326804.4	37		.	.	.	.	.	.	.	.	.	.	C	8.161	0.789509	0.16258	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.07021	3.31;3.25;3.23	4.55	2.33	0.28932	.	1.051590	0.07544	N	0.914441	T	0.12732	0.0309	.	.	.	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.63113	0.911;0.911;0.818	T	0.15464	-1.0436	9	0.06625	T	0.88	-1.6236	8.1403	0.31080	0.1556:0.7532:0.0:0.0912	.	348;421;453	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	C	452;420;347	ENSP00000321209:R452C;ENSP00000321187:R420C;ENSP00000409872:R347C	ENSP00000321209:R452C	R	+	1	0	ZNF274	63415716	0.000000	0.05858	0.020000	0.16555	0.036000	0.12997	-0.009000	0.12765	0.248000	0.21435	-1.134000	0.01955	CGT		0.423	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_133502	
ZNF337	26152	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	25656758	25656758	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr20:25656758C>T	ENST00000376436.1	-	4	1705	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E	ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000428254.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.G389E|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.G357E|RP4-694B14.5_ENST00000414393.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G389E(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAGGAGACTTCCTTTCACGCT	0.488																																																	1	Substitution - Missense(1)	kidney(1)											117.0	103.0	108.0					20																	25656758		2203	4300	6503	SO:0001583	missense	26152				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1166G>A	20.37:g.25656758C>T	ENSP00000365619:p.Gly389Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	13.65	2.301564	0.40694	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.09911	2.93;2.93;2.93	1.13	-2.27	0.06846	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07503	0.0189	L	0.35593	1.075	0.09310	N	1	B;B	0.17852	0.024;0.024	B;B	0.06405	0.002;0.002	T	0.29488	-1.0010	9	0.59425	D	0.04	.	5.5803	0.17247	0.181:0.5597:0.2593:0.0	.	357;389	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	E	389;389;389;357	ENSP00000365619:G389E;ENSP00000252979:G389E;ENSP00000442181:G357E	ENSP00000252979:G389E	G	-	2	0	ZNF337	25604758	0.000000	0.05858	0.000000	0.03702	0.981000	0.71138	-0.773000	0.04689	-1.340000	0.02227	0.306000	0.20318	GGA		0.488	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			
ZNF407	55628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	72346684	72346684	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr18:72346684G>A	ENST00000299687.5	+	1	3709	c.3709G>A	c.(3709-3711)Gca>Aca	p.A1237T	ZNF407_ENST00000309902.6_Missense_Mutation_p.A1237T|ZNF407_ENST00000577538.1_Missense_Mutation_p.A1237T|ZNF407_ENST00000582337.1_Missense_Mutation_p.A1237T	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A1237T(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGGAGGAAACGCAGGAGACGG	0.537																																																	2	Substitution - Missense(2)	kidney(2)											53.0	61.0	58.0					18																	72346684		2050	4185	6235	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.3709G>A	18.37:g.72346684G>A	ENSP00000299687:p.Ala1237Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	9.799	1.179908	0.21787	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.10099	2.91;3.33	4.85	-9.71	0.00518	.	3.777460	0.00508	N	0.000176	T	0.05273	0.0140	N	0.24115	0.695	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.29397	-1.0013	10	0.10111	T	0.7	.	4.9423	0.13973	0.6441:0.0781:0.1109:0.1669	.	1237;1237;1237	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	T	1237	ENSP00000299687:A1237T;ENSP00000310359:A1237T	ENSP00000299687:A1237T	A	+	1	0	ZNF407	70475672	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.289000	0.00525	-2.810000	0.00348	-0.812000	0.03155	GCA		0.537	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1		NM_017757	
GBX2	2637	broad.mit.edu	37	2	237076138	237076138	+	Silent	SNP	G	G	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr2:237076138G>A	ENST00000306318.4	-	1	874	c.477C>T	c.(475-477)ggC>ggT	p.G159G	GBX2_ENST00000551105.1_Silent_p.G159G|AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000465889.1_5'Flank|AC079135.1_ENST00000415226.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	159				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241). {ECO:0000305}.	autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G159G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CGAGCAGCGAGCCCTCTTTGG	0.746																																																	1	Substitution - coding silent(1)	kidney(1)											14.0	14.0	14.0					2																	237076138		2149	4236	6385	SO:0001819	synonymous_variant	2637			AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"""Homeoboxes / ANTP class : HOXL subclass"""	4186	protein-coding gene	gene with protein product		601135	"""gastrulation brain homeo box 2"""			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.477C>T	2.37:g.237076138G>A		Somatic		WXS	Illumina GAIIx	Phase_I	B2RPH7|O43833|Q53RX5|Q9Y5Y1	Silent	SNP	ENST00000306318.4	37	CCDS2515.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485060	0.26598	.	.	ENSG00000233611	ENST00000415226	.	.	.	4.6	3.71	0.42584	.	.	.	.	.	T	0.69251	0.3090	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67818	-0.5572	4	.	.	.	-14.8695	13.9591	0.64168	0.0:0.2879:0.7121:0.0	.	.	.	.	T	17	.	.	A	+	1	0	AC079135.1	236740877	0.918000	0.31147	1.000000	0.80357	0.979000	0.70002	0.249000	0.18216	0.903000	0.36546	0.462000	0.41574	GCC		0.746	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3		NM_001485	
IQSEC1	9922	broad.mit.edu	37	3	12949880	12949880	+	Silent	SNP	G	G	T	rs372057625		TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr3:12949880G>T	ENST00000273221.4	-	12	2982	c.2766C>A	c.(2764-2766)ctC>ctA	p.L922L		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	922					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.L922L(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGAGCTGCTGAGGGCGCTGC	0.637																																																	1	Substitution - coding silent(1)	kidney(1)											38.0	38.0	38.0					3																	12949880		2203	4300	6503	SO:0001819	synonymous_variant	9922			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2766C>A	3.37:g.12949880G>T		Somatic		WXS	Illumina GAIIx	Phase_I	O94863|Q96D85	Silent	SNP	ENST00000273221.4	37	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	G	9.295	1.051693	0.19827	.	.	ENSG00000144711	ENST00000450726	.	.	.	4.88	3.98	0.46160	.	.	.	.	.	T	0.59307	0.2184	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55554	-0.8123	4	.	.	.	.	9.3142	0.37924	0.0786:0.413:0.5083:0.0	.	.	.	.	K	923	.	.	Q	-	1	0	IQSEC1	12924880	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.694000	0.37752	0.989000	0.38761	0.655000	0.94253	CAG		0.637	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2		NM_014869	
Unknown	0	broad.mit.edu	37	1	16974972	16974972	+	IGR	SNP	C	C	T	rs58464479		TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr1:16974972C>T								CROCCP2 (13918 upstream) : RNU1-3 (18307 downstream)																							GGACCAGAGCCTGGAAATGGT	0.637																																																	0																																										SO:0001628	intergenic_variant	11209																															1.37:g.16974972C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.637									
PCDHA5	56143	broad.mit.edu	37	5	140201665	140201665	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr5:140201665G>A	ENST00000529859.1	+	1	305	c.305G>A	c.(304-306)aGc>aAc	p.S102N	PCDHA5_ENST00000378126.3_Missense_Mutation_p.S102N|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S102N	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	102	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S102N(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGAGTGCAGCATCCACCTG	0.582																																																	2	Substitution - Missense(2)	kidney(2)											83.0	94.0	90.0					5																	140201665		2203	4300	6503	SO:0001583	missense	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.305G>A	5.37:g.140201665G>A	ENSP00000436557:p.Ser102Asn	Somatic		WXS	Illumina GAIIx	Phase_I	O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290023	0.23478	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.28255	1.62;1.62;1.62	3.97	3.1	0.35709	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.27866	0.0686	M	0.69463	2.115	0.09310	N	1	B;B;B	0.14012	0.009;0.003;0.003	B;B;B	0.12156	0.007;0.003;0.004	T	0.31223	-0.9951	9	0.42905	T	0.14	.	2.7749	0.05345	0.092:0.2185:0.4232:0.2662	.	102;102;102	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	N	102	ENSP00000433416:S102N;ENSP00000436557:S102N;ENSP00000367366:S102N	ENSP00000367366:S102N	S	+	2	0	PCDHA5	140181849	0.000000	0.05858	0.997000	0.53966	0.975000	0.68041	0.811000	0.27198	0.798000	0.33994	0.580000	0.79431	AGC		0.582	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2		NM_018908	
SALL3	27164	broad.mit.edu	37	18	76753526	76753526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr18:76753526G>A	ENST00000537592.2	+	2	1535	c.1535G>A	c.(1534-1536)tGg>tAg	p.W512*	SALL3_ENST00000575389.2_Nonsense_Mutation_p.W512*|SALL3_ENST00000536229.3_Nonsense_Mutation_p.W379*	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	512					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.W512*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GTGACCACCTGGCTGGACAGC	0.697																																																	1	Substitution - Nonsense(1)	kidney(1)											26.0	23.0	24.0					18																	76753526		2201	4300	6501	SO:0001587	stop_gained	27164			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1535G>A	18.37:g.76753526G>A	ENSP00000441823:p.Trp512*	Somatic		WXS	Illumina GAIIx	Phase_I	Q9UGH1	Nonsense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	45	11.728115	0.99596	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	.	.	.	5.28	5.28	0.74379	.	0.000000	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-22.1862	18.9384	0.92595	0.0:0.0:1.0:0.0	.	.	.	.	X	512;512;244	.	ENSP00000299466:W512X	W	+	2	0	SALL3	74854514	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.782000	0.99034	2.454000	0.82982	0.563000	0.77884	TGG		0.697	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1		NM_171999	
SHANK3	85358	broad.mit.edu	37	22	51160606	51160606	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr22:51160606G>T	ENST00000414786.2	+	21	4530	c.4303G>T	c.(4303-4305)Gcc>Tcc	p.A1435S	SHANK3_ENST00000445220.2_Missense_Mutation_p.A1451S|SHANK3_ENST00000262795.3_Missense_Mutation_p.A1465S			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1449					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.A1465S(1)|p.A558S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GCAGCACCACGCCGCCTCTGC	0.711																																																	2	Substitution - Missense(2)	kidney(2)											10.0	13.0	12.0					22																	51160606		2028	4182	6210	SO:0001583	missense	85358			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.4303G>T	22.37:g.51160606G>T	ENSP00000464552:p.Ala1435Ser	Somatic		WXS	Illumina GAIIx	Phase_I	D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37		.	.	.	.	.	.	.	.	.	.	G	15.78	2.935632	0.52972	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.17213	2.29;2.29	5.43	3.32	0.38043	.	0.179444	0.47455	D	0.000222	T	0.15392	0.0371	L	0.51422	1.61	0.22531	N	0.999016	B;P;B	0.48350	0.061;0.909;0.072	B;B;B	0.40901	0.069;0.343;0.055	T	0.09618	-1.0666	10	0.41790	T	0.15	.	9.0298	0.36252	0.0822:0.1495:0.7683:0.0	.	1449;1450;1465	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	S	1465;1451	ENSP00000442518:A1465S;ENSP00000446078:A1451S	ENSP00000442518:A1465S	A	+	1	0	SHANK3	49507472	1.000000	0.71417	0.504000	0.27639	0.935000	0.57460	6.698000	0.74608	0.658000	0.30925	0.563000	0.77884	GCC		0.711	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2		NM_001080420	
SMG1P7	100506060	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	A	C			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr16:70268158A>C	ENST00000459379.1	-	0	0																											TTCTTCATTAAAACAGCTACT	0.333																																																	0																																												0																															16.37:g.70268158A>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000459379.1	37																																																																																					0.333	snoU13.216-201	NOVEL	basic	snoRNA	snoRNA				
