#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
AARS2	57505	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	44274036	44274036	+	Silent	SNP	C	C	A	rs557359115	byFrequency	TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr6:44274036C>A	ENST00000244571.4	-	9	1283	c.1281G>T	c.(1279-1281)ggG>ggT	p.G427G	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TATCTGAAGGCCCCAGGGTCC	0.617																																																	0													88.0	86.0	87.0					6																	44274036		2203	4300	6503	SO:0001819	synonymous_variant	57505			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1281G>T	6.37:g.44274036C>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000244571.4	37	CCDS34464.1																																																																																				0.617	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2		NM_020745	
ABCD4	5826	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	74763075	74763075	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr14:74763075G>C	ENST00000356924.4	-	5	646	c.503C>G	c.(502-504)cCg>cGg	p.P168R	ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000298816.7_Missense_Mutation_p.P81R|ABCD4_ENST00000557588.1_Missense_Mutation_p.P168R|AC005519.4_ENST00000554532.2_RNA	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	168	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		GAGGGTGAACGGGGAGATGAT	0.602																																																	0													117.0	97.0	104.0					14																	74763075		2203	4300	6503	SO:0001583	missense	5826			AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"""ATP binding cassette transporters / subfamily D"""	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.503C>G	14.37:g.74763075G>C	ENSP00000349396:p.Pro168Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	ENST00000356924.4	37	CCDS9828.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.992342|3.992342	0.74703|0.74703	.|.	.|.	ENSG00000119688|ENSG00000119688	ENST00000356924;ENST00000298816;ENST00000557588|ENST00000556971	D;D;D|.	0.99607|.	-6.27;-6.27;-6.27|.	4.82|4.82	4.82|4.82	0.62117|0.62117	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83917|0.83917	0.5358|0.5358	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;1.0|.	D|D	0.86906|0.86906	0.2057|0.2057	10|5	0.62326|.	D|.	0.03|.	.|.	18.1042|18.1042	0.89515|0.89515	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	81;168;168|.	F8W7M4;A8K5L7;O14678|.	.;.;ABCD4_HUMAN|.	R|G	168;81;168|128	ENSP00000349396:P168R;ENSP00000298816:P81R;ENSP00000451993:P168R|.	ENSP00000298816:P81R|.	P|R	-|-	2|1	0|0	ABCD4|ABCD4	73832828|73832828	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.478000|0.478000	0.33099|0.33099	9.657000|9.657000	0.98554|0.98554	2.486000|2.486000	0.83907|0.83907	0.650000|0.650000	0.86243|0.86243	CCG|CGT		0.602	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314382.1		NM_005050	
AHNAK2	113146	hgsc.bcm.edu	37	14	105416254	105416255	+	Missense_Mutation	DNP	GA	GA	AT	rs386781100|rs544344402|rs201136817	byFrequency	TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr14:105416254_105416255GA>AT	ENST00000333244.5	-	7	5652_5653	c.5533_5534TC>AT	c.(5533-5535)TCg>ATg	p.S1845M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1845						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACATCCACCGAGGCCTCGATG	0.604																																																	0																																										SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5533_5534delinsAT	14.37:g.105416254_105416255delinsAT	ENSP00000353114:p.Ser1845Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.604	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420	
ANK3	288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	61831542	61831542	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr10:61831542C>G	ENST00000280772.2	-	37	9288	c.9097G>C	c.(9097-9099)Ggt>Cgt	p.G3033R	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3033					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGGCATAAACCTACATAACTC	0.408																																																	0													76.0	84.0	81.0					10																	61831542		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9097G>C	10.37:g.61831542C>G	ENSP00000280772:p.Gly3033Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844596	0.51164	.	.	ENSG00000151150	ENST00000280772	T	0.66995	-0.24	5.27	5.27	0.74061	.	0.166737	0.28247	N	0.016060	T	0.52885	0.1762	N	0.25647	0.755	0.80722	D	1	P	0.50066	0.931	P	0.44673	0.457	T	0.51060	-0.8753	10	0.07644	T	0.81	.	13.2222	0.59894	0.0:0.9231:0.0:0.0769	.	3033	Q12955	ANK3_HUMAN	R	3033	ENSP00000280772:G3033R	ENSP00000280772:G3033R	G	-	1	0	ANK3	61501548	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.825000	0.55730	2.465000	0.83290	0.462000	0.41574	GGT		0.408	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987	
ATP8A1	10396	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	42509034	42509034	+	Splice_Site	SNP	G	G	A			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr4:42509034G>A	ENST00000381668.5	-	23	2316	c.2085C>T	c.(2083-2085)atC>atT	p.I695I	ATP8A1_ENST00000264449.10_Splice_Site_p.I680I	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	695					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTGAATTACCGATGTTAATGG	0.348																																																	0													186.0	166.0	173.0					4																	42509034		2203	4300	6503	SO:0001630	splice_region_variant	10396			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.2086+1C>T	4.37:g.42509034G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	ENST00000381668.5	37	CCDS3466.1																																																																																				0.348	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2		NM_006095	Silent
SPATC1L	84221	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	47588323	47588323	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr21:47588323G>C	ENST00000291672.5	-	3	1504	c.443C>G	c.(442-444)aCc>aGc	p.T148S	SPATC1L_ENST00000330205.6_5'UTR	NM_001142854.1	NP_001136326.1	Q9H0A9	SPC1L_HUMAN	spermatogenesis and centriole associated 1-like	148																	CTCCAGCAGGGTCTTGTCCAC	0.622																																																	0													42.0	38.0	40.0					21																	47588323		2203	4300	6503	SO:0001583	missense	0			BC009497	CCDS13732.1, CCDS46653.1	21q22.3	2013-01-21	2012-11-12	2012-11-12	ENSG00000160284	ENSG00000160284			1298	protein-coding gene	gene with protein product	"""speriolin-like protein"""	612412	"""chromosome 21 open reading frame 56"""	C21orf56			Standard	NM_032261		Approved		uc011afu.2	Q9H0A9	OTTHUMG00000090487	ENST00000291672.5:c.443C>G	21.37:g.47588323G>C	ENSP00000291672:p.Thr148Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B4E323|Q52LS9|Q6FIH5|Q6P0L3|Q9NSE5	Missense_Mutation	SNP	ENST00000291672.5	37	CCDS46653.1	.	.	.	.	.	.	.	.	.	.	G	5.714	0.316296	0.10789	.	.	ENSG00000160284	ENST00000291672	T	0.39592	1.07	5.07	-1.74	0.08056	.	0.651863	0.13369	N	0.393029	T	0.19525	0.0469	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32481	-0.9905	10	0.05525	T	0.97	-16.8099	6.1288	0.20194	0.0813:0.5143:0.2715:0.1329	.	148	Q9H0A9	CU056_HUMAN	S	148	ENSP00000291672:T148S	ENSP00000291672:T148S	T	-	2	0	C21orf56	46412751	0.065000	0.20965	0.419000	0.26584	0.945000	0.59286	0.310000	0.19356	-0.412000	0.07519	-0.538000	0.04264	ACC		0.622	SPATC1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376654.1		NM_032261	
CARD6	84674	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	40843666	40843666	+	Silent	SNP	T	T	G			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr5:40843666T>G	ENST00000254691.5	+	2	895	c.696T>G	c.(694-696)gtT>gtG	p.V232V	CARD6_ENST00000381677.3_Silent_p.V232V	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	232	Asp/Glu-rich.				apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AAGAGGAGGTTTATGATGACC	0.438																																																	0													77.0	80.0	79.0					5																	40843666		2203	4300	6503	SO:0001819	synonymous_variant	84674			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.696T>G	5.37:g.40843666T>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q52LR2	Silent	SNP	ENST00000254691.5	37	CCDS3935.1																																																																																				0.438	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			
CEP164	22897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	117263760	117263760	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr11:117263760G>A	ENST00000278935.3	+	20	2681	c.2534G>A	c.(2533-2535)gGg>gAg	p.G845E	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	845	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GAAGTGGAAGGGGAGCATGAG	0.592																																																	0													195.0	144.0	162.0					11																	117263760		2201	4296	6497	SO:0001583	missense	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2534G>A	11.37:g.117263760G>A	ENSP00000278935:p.Gly845Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.448079	0.26074	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.42900	0.96	5.27	1.97	0.26223	.	0.216229	0.32147	N	0.006510	T	0.18045	0.0433	N	0.08118	0	0.09310	N	0.99999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.21518	-1.0243	10	0.13470	T	0.59	-10.5803	7.449	0.27227	0.3834:0.0:0.6166:0.0	.	819;619;845;848	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	E	845;819;726	ENSP00000278935:G845E	ENSP00000278935:G845E	G	+	2	0	CEP164	116768970	0.049000	0.20398	0.600000	0.28864	0.731000	0.41821	0.215000	0.17562	0.616000	0.30141	-0.137000	0.14449	GGG		0.592	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1		NM_014956	
CLCA4	22802	hgsc.bcm.edu	37	1	87045908	87045908	+	Silent	SNP	T	T	A	rs56040873|rs77594462	byFrequency	TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr1:87045908T>A	ENST00000370563.3	+	14	2682	c.2640T>A	c.(2638-2640)acT>acA	p.T880T	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	880					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ctacacctactcctactccta	0.353																																																	0													98.0	94.0	95.0					1																	87045908		1847	4080	5927	SO:0001819	synonymous_variant	22802			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.2640T>A	1.37:g.87045908T>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Silent	SNP	ENST00000370563.3	37	CCDS41355.1																																																																																				0.353	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1		NM_012128	
COBLL1	22837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	165561492	165561493	+	Missense_Mutation	DNP	GC	GC	AA	rs138711091|rs149060063		TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr2:165561492_165561493GC>AA	ENST00000392717.2	-	8	1237_1238	c.1233_1234GC>TT	c.(1231-1236)ccGCat>ccTTat	p.H412Y	COBLL1_ENST00000491126.2_5'UTR|COBLL1_ENST00000409184.3_Missense_Mutation_p.H412Y|COBLL1_ENST00000342193.4_Missense_Mutation_p.H374Y|COBLL1_ENST00000375458.2_Missense_Mutation_p.H374Y|COBLL1_ENST00000194871.6_Missense_Mutation_p.H440Y			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	412						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TCACTTTGATGCGGGGGTATTT	0.421																																																	0																																										SO:0001583	missense	22837			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.1233_1234delinsAA	2.37:g.165561492_165561493delinsAA	ENSP00000376478:p.His412Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation|Silent	SNP	ENST00000392717.2	37																																																																																					0.421	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_014900	
COL27A1	85301	hgsc.bcm.edu	37	9	117026664	117026664	+	Silent	SNP	G	G	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr9:117026664G>T	ENST00000356083.3	+	29	3616	c.3225G>T	c.(3223-3225)ggG>ggT	p.G1075G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1075	Collagen-like 8.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GACCAGCTGGGGAGCAAGGGT	0.652																																																	0													28.0	27.0	27.0					9																	117026664		2198	4297	6495	SO:0001819	synonymous_variant	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3225G>T	9.37:g.117026664G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	CCDS6802.1																																																																																				0.652	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1		NM_032888	
CRIPAK	285464	hgsc.bcm.edu	37	4	1389054	1389055	+	Frame_Shift_Ins	INS	-	-	CA	rs144861850		TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr4:1389054_1389055insCA	ENST00000324803.4	+	1	3715_3716	c.755_756insCA	c.(754-759)ctcacgfs	p.LT252fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	252					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.C254fs*176(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCGCCTGCTCACGTGCCGAT	0.693																																																	1	Insertion - Frameshift(1)	lung(1)																																								SO:0001589	frameshift_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.756_757dupCA	4.37:g.1389055_1389056dupCA	ENSP00000323978:p.Leu252fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NB03	Frame_Shift_Ins	INS	ENST00000324803.4	37	CCDS3349.1																																																																																				0.693	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2		NM_175918	
CRIPAK	285464	hgsc.bcm.edu	37	4	1389076	1389076	+	Silent	SNP	C	C	T	rs113118213	byFrequency	TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr4:1389076C>T	ENST00000324803.4	+	1	3737	c.777C>T	c.(775-777)ccC>ccT	p.P259P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	259					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGGAGTGCCCGCCTGCTCAC	0.692																																																	0								C		15,4389		0,15,2187	154.0	138.0	144.0		777	-1.6	0.0	4	dbSNP_132	144	9,8589		0,9,4290	no	coding-synonymous	CRIPAK	NM_175918.3		0,24,6477	TT,TC,CC		0.1047,0.3406,0.1846		259/447	1389076	24,12978	2202	4299	6501	SO:0001819	synonymous_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.777C>T	4.37:g.1389076C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																				0.692	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2		NM_175918	
CRIPAK	285464	hgsc.bcm.edu	37	4	1389097	1389097	+	Missense_Mutation	SNP	G	G	A	rs74651473	byFrequency	TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr4:1389097G>A	ENST00000324803.4	+	1	3758	c.798G>A	c.(796-798)atG>atA	p.M266I		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	266					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			ACGTGCCCATGTGGAGTGCCC	0.687																																																	0								G	ILE/MET	27,4379		0,27,2176	142.0	130.0	134.0		798	-0.2	0.0	4	dbSNP_131	134	28,8568		0,28,4270	no	missense	CRIPAK	NM_175918.3	10	0,55,6446	AA,AG,GG		0.3257,0.6128,0.423	benign	266/447	1389097	55,12947	2203	4298	6501	SO:0001583	missense	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.798G>A	4.37:g.1389097G>A	ENSP00000323978:p.Met266Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	3.960	-0.010432	0.07727	0.006128	0.003257	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.17691	2.26	0.815	-0.184	0.13280	Post-SET domain (1);	.	.	.	.	T	0.04227	0.0117	N	0.08118	0	0.09310	N	1	B	0.21381	0.055	B	0.12156	0.007	T	0.41662	-0.9496	9	0.16420	T	0.52	.	3.8966	0.09143	0.5178:0.0:0.4822:0.0	.	266	Q8N1N5	CRPAK_HUMAN	I	266;208	ENSP00000323978:M266I	ENSP00000323978:M266I	M	+	3	0	CRIPAK	1379097	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.047000	0.14056	-0.076000	0.12775	-0.506000	0.04501	ATG		0.687	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2		NM_175918	
CTSK	1513	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	150778608	150778608	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr1:150778608A>T	ENST00000271651.3	-	3	323	c.213T>A	c.(211-213)taT>taA	p.Y71*	CTSK_ENST00000480670.1_Intron	NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	71					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TAGCCAGTTCATATGTATGGA	0.458																																																	0													92.0	88.0	89.0					1																	150778608		2203	4300	6503	SO:0001587	stop_gained	1513			BC016058	CCDS969.1	1q21	2008-02-05	2006-12-05		ENSG00000143387	ENSG00000143387		"""Cathepsins"""	2536	protein-coding gene	gene with protein product		601105	"""cathepsin K (pycnodysostosis)"""	CTSO2, CTSO, PYCD		7818555	Standard	NM_000396		Approved	PKND	uc001evp.2	P43235	OTTHUMG00000035008	ENST00000271651.3:c.213T>A	1.37:g.150778608A>T	ENSP00000271651:p.Tyr71*	Somatic		WXS	Illumina HiSeq	Phase_I	Q6FHS6	Nonsense_Mutation	SNP	ENST00000271651.3	37	CCDS969.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.839135	0.91117	.	.	ENSG00000143387	ENST00000271651;ENST00000443913	.	.	.	5.68	0.794	0.18638	.	0.120798	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1313	0.14911	0.62:0.1448:0.2352:0.0	.	.	.	.	X	71;130	.	ENSP00000271651:Y71X	Y	-	3	2	CTSK	149045232	0.003000	0.15002	0.999000	0.59377	0.994000	0.84299	1.070000	0.30653	0.098000	0.17522	0.459000	0.35465	TAT		0.458	CTSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084732.1		NM_000396	
DIO2	1734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	80669169	80669169	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr14:80669169G>A	ENST00000557010.1	-	4	1070	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	DIO2_ENST00000555750.1_Missense_Mutation_p.R265C|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.R229C|DIO2_ENST00000422005.3_3'UTR	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	229					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		ATGCACACACGTTCAAAGGCT	0.527																																																	0													93.0	91.0	92.0					14																	80669169		1994	4180	6174	SO:0001583	missense	1734			AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.685C>T	14.37:g.80669169G>A	ENSP00000451419:p.Arg229Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	ENST00000557010.1	37	CCDS45146.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170630	0.78452	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000555750	T;T;T	0.51817	0.69;0.69;0.69	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000005	T	0.74764	0.3759	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69307	0.917;0.95;0.963	T	0.80752	-0.1242	10	0.87932	D	0	.	14.7783	0.69746	0.0:0.0:0.8557:0.1443	.	265;229;265	Q92813-2;Q92813;G3V315	.;IOD2_HUMAN;.	C	229;229;265	ENSP00000405854:R229C;ENSP00000451419:R229C;ENSP00000450980:R265C	ENSP00000405854:R229C	R	-	1	0	DIO2	79738922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.405000	0.52630	2.724000	0.93272	0.650000	0.86243	CGT		0.527	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			
DUPD1	338599	broad.mit.edu	37	10	76797800	76797800	+	Missense_Mutation	SNP	G	G	A	rs148261941		TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr10:76797800G>A	ENST00000338487.5	-	3	456	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	153	Substrate binding. {ECO:0000305}.|Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GTGGCTGACCGGCTGCGGCCC	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19152	0.0		0.0	False		,,,				2504	0.0																0													64.0	55.0	58.0					10																	76797800		2203	4300	6503	SO:0001583	missense	338599				CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.457C>T	10.37:g.76797800G>A	ENSP00000340609:p.Arg153Trp	Somatic		WXS	Illumina GAIIx	Phase_I	B2RP93	Missense_Mutation	SNP	ENST00000338487.5	37	CCDS31223.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.7	4.188607	0.78789	.	.	ENSG00000188716	ENST00000338487	D	0.98381	-4.9	4.65	2.72	0.32119	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.99333	0.9766	H	0.98314	4.2	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.98792	1.0736	10	0.87932	D	0	-32.5984	13.2772	0.60194	0.0:0.0:0.7111:0.2888	.	153	Q68J44	DUPD1_HUMAN	W	153	ENSP00000340609:R153W	ENSP00000340609:R153W	R	-	1	2	DUPD1	76467806	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	5.217000	0.65252	0.544000	0.28883	0.485000	0.47835	CGG		0.622	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2		XM_291741	
FREM2	341640	hgsc.bcm.edu	37	13	39262990	39262991	+	Missense_Mutation	DNP	TC	TC	CT			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr13:39262990_39262991TC>CT	ENST00000280481.7	+	1	1725_1726	c.1509_1510TC>CT	c.(1507-1512)gcTCcc>gcCTcc	p.P504S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	504					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCAGCTCTGCTCCCAAGAGCTT	0.599																																																	0																																										SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	Exception_encountered	13.37:g.39262990_39262991delinsCT	ENSP00000280481:p.Pro504Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent|Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																				0.599	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2		NM_207361	
TMEM255B	348013	broad.mit.edu	37	13	114469190	114469190	+	Missense_Mutation	SNP	C	C	T	rs200265697	byFrequency	TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr13:114469190C>T	ENST00000375353.3	+	2	176	c.149C>T	c.(148-150)aCg>aTg	p.T50M		NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	50						integral component of membrane (GO:0016021)											ACCACCAGGACGGAGAATGTG	0.652													C|||	3	0.000599042	0.0	0.0014	5008	,	,		16829	0.0		0.001	False		,,,				2504	0.001																0													107.0	85.0	92.0					13																	114469190		2203	4300	6503	SO:0001583	missense	0			BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member B"""	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.149C>T	13.37:g.114469190C>T	ENSP00000364502:p.Thr50Met	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000375353.3	37	CCDS45071.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	c	16.21	3.059704	0.55325	.	.	ENSG00000184497	ENST00000375353	T	0.57436	0.4	4.42	4.42	0.53409	.	.	.	.	.	T	0.74419	0.3714	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80034	-0.1551	9	0.87932	D	0	-11.7358	15.8064	0.78517	0.0:1.0:0.0:0.0	.	50;50	B4DIK8;Q8WV15	.;FA70B_HUMAN	M	50	ENSP00000364502:T50M	ENSP00000364502:T50M	T	+	2	0	FAM70B	113644753	1.000000	0.71417	0.906000	0.35671	0.014000	0.08584	6.448000	0.73469	2.008000	0.58898	0.313000	0.20887	ACG		0.652	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4		NM_182614	
HIVEP1	3096	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	12123871	12123871	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr6:12123871G>C	ENST00000379388.2	+	4	4175	c.3843G>C	c.(3841-3843)aaG>aaC	p.K1281N	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1281					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CACCCAAAAAGAAAAGGCTCC	0.453																																																	0													73.0	74.0	74.0					6																	12123871		1881	4111	5992	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3843G>C	6.37:g.12123871G>C	ENSP00000368698:p.Lys1281Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269989	0.80469	.	.	ENSG00000095951	ENST00000379388	T	0.60171	0.21	6.07	6.07	0.98685	.	0.000000	0.38111	N	0.001817	T	0.78349	0.4269	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78560	-0.2157	9	.	.	.	-29.3339	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1281	P15822	ZEP1_HUMAN	N	1281	ENSP00000368698:K1281N	.	K	+	3	2	HIVEP1	12231857	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.735000	0.74806	2.884000	0.98904	0.655000	0.94253	AAG		0.453	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2		NM_002114	
HLA-B	3106	hgsc.bcm.edu	37	6	31324604	31324604	+	Frame_Shift_Del	DEL	T	T	-	rs9266179|rs200186034	byFrequency	TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr6:31324604delT	ENST00000412585.2	-	2	232	c.204delA	c.(202-204)agafs	p.R68fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	68	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)	p.E69fs*8(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GCGGCTCCTCTCTCGGACTCG	0.677									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								1	Deletion - Frameshift(1)	large_intestine(1)								1993,2105		740,513,796	33.0	33.0	33.0			-6.4	0.0	6	dbSNP_118	34	3347,4625		1272,803,1911	no	frameshift	HLA-B	NM_005514.6		2012,1316,2707	A1A1,A1R,RR		41.9844,48.6335,44.2419			31324604	5340,6730	2015	3950	5965	SO:0001589	frameshift_variant	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.204delA	6.37:g.31324604delT	ENSP00000399168:p.Arg68fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q29764	Frame_Shift_Del	DEL	ENST00000412585.2	37	CCDS34394.1																																																																																				0.677	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4		NM_005514	
ITPKC	80271	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	41243662	41243662	+	Silent	SNP	C	C	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr19:41243662C>T	ENST00000263370.2	+	6	1869	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	612					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCCCTTCTTCAAGACCCACG	0.537																																																	0													170.0	155.0	160.0					19																	41243662		2203	4300	6503	SO:0001819	synonymous_variant	80271			Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1836C>T	19.37:g.41243662C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9UE25|Q9Y475	Silent	SNP	ENST00000263370.2	37	CCDS12563.1																																																																																				0.537	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1		NM_025194	
KATNB1	10300	broad.mit.edu	37	16	57775693	57775693	+	Silent	SNP	C	C	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr16:57775693C>T	ENST00000379661.3	+	3	527	c.135C>T	c.(133-135)gtC>gtT	p.V45V		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				ACTGCCGCGTCAACCTGTGGT	0.652																																																	0													42.0	37.0	39.0					16																	57775693		2198	4300	6498	SO:0001819	synonymous_variant	10300			AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"""WD repeat domain containing"""	6217	protein-coding gene	gene with protein product		602703	"""katanin p80 (WD40-containing) subunit B 1"""			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.135C>T	16.37:g.57775693C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000379661.3	37	CCDS10788.1																																																																																				0.652	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257343.3			
KCNJ12	3768	hgsc.bcm.edu	37	17	21319519	21319519	+	Missense_Mutation	SNP	G	G	C	rs78113532	byFrequency	TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr17:21319519G>C	ENST00000583088.1	+	3	1760	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E289Q	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	289				ET -> QM (in Ref. 2; AAC50615). {ECO:0000305}.	muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.E289Q(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GCAGGACCTGGAGACGGACGA	0.612										Prostate(3;0.18)																																							1	Substitution - Missense(1)	lung(1)											95.0	86.0	89.0					17																	21319519		2203	4300	6503	SO:0001583	missense	100134444			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.865G>C	17.37:g.21319519G>C	ENSP00000463778:p.Glu289Gln	Somatic		WXS	Illumina HiSeq	Phase_I	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275709	0.40294	.	.	ENSG00000184185	ENST00000331718	D	0.94000	-3.33	5.44	5.44	0.79542	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.89870	0.6840	L	0.37800	1.135	0.80722	D	1	B	0.17465	0.022	B	0.18871	0.023	D	0.85448	0.1159	10	0.17369	T	0.5	.	19.2719	0.94013	0.0:0.0:1.0:0.0	.	289	Q14500	IRK12_HUMAN	Q	289	ENSP00000328150:E289Q	ENSP00000328150:E289Q	E	+	1	0	KCNJ12	21260112	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.698000	0.98700	2.561000	0.86390	0.561000	0.74099	GAG		0.612	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2		NM_021012	
KIAA2018	205717	hgsc.bcm.edu	37	3	113376125	113376125	+	Silent	SNP	C	C	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr3:113376125C>T	ENST00000478658.1	-	5	4421	c.4404G>A	c.(4402-4404)caG>caA	p.Q1468Q	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.Q1468Q			Q68DE3	K2018_HUMAN	KIAA2018	1468	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						gctgctgctgctgctgctgct	0.498																																																	0													53.0	63.0	60.0					3																	113376125		2180	4278	6458	SO:0001819	synonymous_variant	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4404G>A	3.37:g.113376125C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	CCDS43133.1																																																																																				0.498	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1		NM_001009899	
KRTAP4-3	85290	hgsc.bcm.edu	37	17	39324284	39324284	+	Silent	SNP	G	G	A	rs78226710		TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr17:39324284G>A	ENST00000391356.2	-	1	140	c.141C>T	c.(139-141)tcC>tcT	p.S47S		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	47	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			tgcagcaactggaaatgcagc	0.647																																																	0													12.0	13.0	13.0					17																	39324284		2083	4157	6240	SO:0001819	synonymous_variant	85290			AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"""Keratin associated proteins"""	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.141C>T	17.37:g.39324284G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000391356.2	37	CCDS42331.1																																																																																				0.647	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1			
KRTAP5-8	57830	hgsc.bcm.edu	37	11	71249532	71249532	+	Missense_Mutation	SNP	C	C	G	rs532438179|rs11234084|rs369043826	byFrequency	TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr11:71249532C>G	ENST00000398534.3	+	1	462	c.431C>G	c.(430-432)tCc>tGc	p.S144C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	144	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						CCCTGCTGTTCCCAGTCCAGC	0.612																																																	0													148.0	160.0	156.0					11																	71249532		2200	4294	6494	SO:0001583	missense	57830			AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.431C>G	11.37:g.71249532C>G	ENSP00000420723:p.Ser144Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	37	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	-	3.125	-0.179750	0.06380	.	.	ENSG00000241233	ENST00000398534	T	0.01197	5.19	1.57	-2.99	0.05497	.	.	.	.	.	T	0.00552	0.0018	N	0.02213	-0.635	0.21861	N	0.999505	B	0.02656	0.0	B	0.01281	0.0	T	0.44314	-0.9336	9	0.02654	T	1	.	12.0511	0.53507	0.0:0.7645:0.2355:0.0	rs11234084	144	O75690	KRA58_HUMAN	C	144	ENSP00000420723:S144C	ENSP00000420723:S144C	S	+	2	0	KRTAP5-8	70927180	0.000000	0.05858	0.375000	0.26029	0.014000	0.08584	-0.627000	0.05521	-0.723000	0.04915	-0.951000	0.02657	TCC		0.612	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1		NM_021046	
Unknown	0	broad.mit.edu	37	13	19414116	19414116	+	IGR	SNP	C	C	T	rs200677053		TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr13:19414116C>T								LINC00418 (120247 upstream) : RP11-38M15.11 (19850 downstream)																							GATTGATTTACCTGATTTGGA	0.269																																																	0																																										SO:0001628	intergenic_variant	0																															13.37:g.19414116C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.269									
LOXL4	84171	broad.mit.edu;hgsc.bcm.edu	37	10	100022771	100022771	+	Silent	SNP	C	C	T	rs201076968	byFrequency	TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr10:100022771C>T	ENST00000260702.3	-	2	156	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	2						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.A2A(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GTGGGGACCACGCCATGGTGA	0.587											OREG0020428	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0.0	0.0	5008	,	,		17790	0.001		0.001	False		,,,				2504	0.0																1	Substitution - coding silent(1)	large_intestine(1)											30.0	33.0	32.0					10																	100022771		2203	4300	6503	SO:0001819	synonymous_variant	84171			AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.6G>A	10.37:g.100022771C>T		Somatic	1348	WXS	Illumina HiSeq	Phase_I	Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Silent	SNP	ENST00000260702.3	37	CCDS7473.1																																																																																				0.587	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1		NM_032211	
MCRS1	10445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49954117	49954117	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr12:49954117A>T	ENST00000550165.1	-	10	1108	c.842T>A	c.(841-843)tTc>tAc	p.F281Y	MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000546244.1_Missense_Mutation_p.F90Y|MCRS1_ENST00000357123.4_Missense_Mutation_p.F294Y|MCRS1_ENST00000343810.4_Missense_Mutation_p.F281Y			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	281					cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						TGCATCAGAGAAGTTCAGCAC	0.562																																																	0													280.0	258.0	265.0					12																	49954117		2203	4300	6503	SO:0001583	missense	10445			BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"""INO80 complex subunits"""	6960	protein-coding gene	gene with protein product	"""INO80 complex subunit Q"""	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.842T>A	12.37:g.49954117A>T	ENSP00000448056:p.Phe281Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	O14742|O75497|Q6VN53|Q7Z372	Missense_Mutation	SNP	ENST00000550165.1	37	CCDS8787.1	.	.	.	.	.	.	.	.	.	.	A	34	5.322806	0.95708	.	.	ENSG00000187778	ENST00000546244;ENST00000343810;ENST00000550165;ENST00000357123;ENST00000553173	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.78291	0.4260	M	0.82517	2.595	0.80722	D	1	D;D	0.56968	0.975;0.978	P;P	0.60886	0.762;0.88	T	0.80353	-0.1418	8	.	.	.	-17.0397	14.5523	0.68075	1.0:0.0:0.0:0.0	.	281;294	Q96EZ8;Q96EZ8-2	MCRS1_HUMAN;.	Y	90;281;281;294;268	.	.	F	-	2	0	MCRS1	48240384	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.429000	0.90280	2.319000	0.78375	0.533000	0.62120	TTC		0.562	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405102.1		NM_006337	
MUC4	4585	broad.mit.edu	37	3	195506373	195506373	+	Silent	SNP	G	G	A			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr3:195506373G>A	ENST00000463781.3	-	2	12537	c.12078C>T	c.(12076-12078)tcC>tcT	p.S4026S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.S4026S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CGTGACCTGTGGATGCTGAGG	0.572																																																	0													21.0	15.0	17.0					3																	195506373		653	1290	1943	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12078C>T	3.37:g.195506373G>A		Somatic		WXS	Illumina GAIIx	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																				0.572	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	broad.mit.edu	37	3	195508133	195508133	+	Missense_Mutation	SNP	G	G	A	rs202065387		TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr3:195508133G>A	ENST00000463781.3	-	2	10777	c.10318C>T	c.(10318-10320)Cct>Tct	p.P3440S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P3440S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.P3440S(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACAGGAACAGGGGTGGCGTGA	0.592																																																	2	Substitution - Missense(2)	endometrium(2)											30.0	24.0	26.0					3																	195508133		685	1583	2268	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10318C>T	3.37:g.195508133G>A	ENSP00000417498:p.Pro3440Ser	Somatic		WXS	Illumina GAIIx	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	3.286	-0.146045	0.06627	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.29917	1.58;1.55	.	.	.	.	.	.	.	.	T	0.22003	0.0530	N	0.14661	0.345	0.09310	N	1	P	0.48350	0.909	P	0.50440	0.641	T	0.15809	-1.0424	6	.	.	.	.	.	.	.	.	3312	E7ESK3	.	S	3440	ENSP00000417498:P3440S;ENSP00000420243:P3440S	.	P	-	1	0	MUC4	196992912	0.016000	0.18221	0.006000	0.13384	0.005000	0.04900	-0.684000	0.05173	0.088000	0.17205	0.089000	0.15464	CCT		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
NDUFS1	4719	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	207011714	207011714	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr2:207011714T>G	ENST00000233190.6	-	8	916	c.650A>C	c.(649-651)gAa>gCa	p.E217A	NDUFS1_ENST00000455934.2_Missense_Mutation_p.E231A|NDUFS1_ENST00000457011.1_Missense_Mutation_p.E101A|NDUFS1_ENST00000432169.1_Missense_Mutation_p.E106A|NDUFS1_ENST00000423725.1_Missense_Mutation_p.E160A|NDUFS1_ENST00000449699.1_Missense_Mutation_p.E217A|NDUFS1_ENST00000440274.1_Missense_Mutation_p.E181A	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	217					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCAGACAGTTCAGACATGAA	0.433																																																	0													172.0	140.0	151.0					2																	207011714		2203	4300	6503	SO:0001583	missense	4719				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.650A>C	2.37:g.207011714T>G	ENSP00000233190:p.Glu217Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.359483	0.82353	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.94493	0.8227	H	0.94264	3.515	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.81914	0.995;0.967;0.967;0.967	D	0.95880	0.8898	10	0.87932	D	0	-24.731	15.9353	0.79698	0.0:0.0:0.0:1.0	.	106;181;231;217	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	A	217;160;101;181;231;217;106	ENSP00000233190:E217A;ENSP00000397760:E160A;ENSP00000400976:E101A;ENSP00000409766:E181A;ENSP00000392709:E231A;ENSP00000399912:E217A;ENSP00000409689:E106A	ENSP00000233190:E217A	E	-	2	0	NDUFS1	206719959	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	6.240000	0.72363	2.160000	0.67779	0.482000	0.46254	GAA		0.433	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4		NM_005006	
SLC9B2	133308	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	103947531	103947531	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr4:103947531A>T	ENST00000394785.3	-	12	2241	c.1610T>A	c.(1609-1611)gTt>gAt	p.V537D	SLC9B2_ENST00000503103.1_3'UTR|SLC9B2_ENST00000503230.1_Missense_Mutation_p.V480D|SLC9B2_ENST00000362026.3_Missense_Mutation_p.V537D|SLC9B2_ENST00000339611.4_Intron	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	537					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										TCACCTCTAAACTTGCACAGA	0.353																																																	0													93.0	97.0	96.0					4																	103947531		2203	4300	6503	SO:0001583	missense	0			AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.1610T>A	4.37:g.103947531A>T	ENSP00000378265:p.Val537Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.482680	0.44147	.	.	ENSG00000164038	ENST00000362026;ENST00000394785;ENST00000503230	T;T;T	0.25250	1.81;1.81;1.85	5.28	4.09	0.47781	.	1.675060	0.03863	N	0.274337	T	0.20901	0.0503	N	0.22421	0.69	0.32795	N	0.500665	B;B	0.33379	0.41;0.41	B;B	0.33042	0.157;0.157	T	0.22243	-1.0222	10	0.87932	D	0	.	6.1578	0.20348	0.7864:0.0:0.2136:0.0	.	480;537	E9PE63;Q86UD5	.;SL9B2_HUMAN	D	537;537;480	ENSP00000354574:V537D;ENSP00000378265:V537D;ENSP00000422477:V480D	ENSP00000354574:V537D	V	-	2	0	SLC9B2	104166980	0.180000	0.23148	0.593000	0.28771	0.931000	0.56810	0.837000	0.27558	0.817000	0.34445	0.477000	0.44152	GTT		0.353	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1		NM_178833	
NLRC5	84166	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	57088695	57088695	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr16:57088695C>G	ENST00000262510.6	+	25	3764	c.3539C>G	c.(3538-3540)cCc>cGc	p.P1180R	NLRC5_ENST00000436936.1_Missense_Mutation_p.P1180R|NLRC5_ENST00000308149.7_Missense_Mutation_p.P1180R|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000539144.1_Missense_Mutation_p.P1180R	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1180					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCGAAAAGCCCCTTCCTGCTG	0.577																																																	0													184.0	190.0	188.0					16																	57088695		2198	4300	6498	SO:0001583	missense	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3539C>G	16.37:g.57088695C>G	ENSP00000262510:p.Pro1180Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658334	0.29425	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	T;T;T;T;T;T	0.53640	0.61;5.53;0.61;5.53;0.61;0.61	4.88	1.8	0.24995	.	.	.	.	.	T	0.57007	0.2024	M	0.62723	1.935	0.23232	N	0.998076	D;D;D;D;P	0.59357	0.974;0.985;0.985;0.985;0.954	P;P;P;P;P	0.59825	0.548;0.735;0.735;0.864;0.646	T	0.42565	-0.9444	9	0.56958	D	0.05	.	7.3075	0.26455	0.0:0.7163:0.0:0.2837	.	865;1180;1180;1180;1180	Q9H6Y0;Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;.;NLRC5_HUMAN	R	1180;1180;1180;624;1180;657;449	ENSP00000262510:P1180R;ENSP00000308886:P1180R;ENSP00000389739:P1180R;ENSP00000441727:P1180R;ENSP00000441597:P657R;ENSP00000440153:P449R	ENSP00000262510:P1180R	P	+	2	0	NLRC5	55646196	0.080000	0.21391	0.962000	0.40283	0.070000	0.16714	0.247000	0.18179	0.655000	0.30866	0.557000	0.71058	CCC		0.577	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1		NM_032206	
NPTX2	4885	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	98256632	98256632	+	Silent	SNP	C	C	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr7:98256632C>T	ENST00000265634.3	+	4	1209	c.1044C>T	c.(1042-1044)ggC>ggT	p.G348G		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	348	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCCGGGGGCGTGCTGATCC	0.677																																																	0													54.0	45.0	48.0					7																	98256632		2203	4300	6503	SO:0001819	synonymous_variant	4885				CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.1044C>T	7.37:g.98256632C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	CCDS5657.1																																																																																				0.677	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1		NM_002523	
NUCB1	4924	broad.mit.edu;hgsc.bcm.edu	37	19	49404186	49404186	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr19:49404186C>G	ENST00000405315.4	+	2	467	c.133C>G	c.(133-135)Ccc>Gcc	p.P45A	NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000263273.5_Missense_Mutation_p.P45A|TULP2_ENST00000221399.3_5'Flank|NUCB1_ENST00000407032.1_Missense_Mutation_p.P45A	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	45	O-glycosylated at one site.					endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GACTGAGAGTCCCGTGAGTGG	0.662																																																	0													43.0	42.0	42.0					19																	49404186		2203	4299	6502	SO:0001583	missense	4924			BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.133C>G	19.37:g.49404186C>G	ENSP00000385923:p.Pro45Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	ENST00000405315.4	37	CCDS12740.1	.	.	.	.	.	.	.	.	.	.	C	6.331	0.429208	0.11987	.	.	ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000452087;ENST00000411700;ENST00000451312;ENST00000263273	T;T;T	0.18174	2.23;2.23;2.23	4.08	3.05	0.35203	.	0.620253	0.16785	N	0.199608	T	0.14485	0.0350	L	0.58428	1.81	0.34794	D	0.736003	B;B	0.32781	0.384;0.384	B;B	0.31290	0.127;0.127	T	0.10314	-1.0635	10	0.11794	T	0.64	.	8.0945	0.30820	0.0:0.8901:0.0:0.1099	.	45;45	Q02818;Q53GX6	NUCB1_HUMAN;.	A	45	ENSP00000385923:P45A;ENSP00000385211:P45A;ENSP00000263273:P45A	ENSP00000263273:P45A	P	+	1	0	NUCB1	54095998	1.000000	0.71417	1.000000	0.80357	0.041000	0.13682	2.990000	0.49401	1.302000	0.44855	-0.272000	0.10252	CCC		0.662	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2		NM_006184	
NYNRIN	57523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24886608	24886608	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr14:24886608G>A	ENST00000382554.3	+	9	5971	c.5653G>A	c.(5653-5655)Gcc>Acc	p.A1885T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1885					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GAAGGCCTTTGCCAAGAGTGG	0.627																																																	0													13.0	14.0	14.0					14																	24886608		1909	4110	6019	SO:0001583	missense	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5653G>A	14.37:g.24886608G>A	ENSP00000371994:p.Ala1885Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081313	0.55753	.	.	ENSG00000205978	ENST00000382554	T	0.10960	2.82	4.87	2.85	0.33270	.	.	.	.	.	T	0.06554	0.0168	N	0.14661	0.345	0.22412	N	0.999121	P	0.46784	0.884	B	0.39617	0.305	T	0.32025	-0.9922	9	0.31617	T	0.26	.	10.835	0.46681	0.0:0.3914:0.6086:0.0	.	1885	Q9P2P1	NYNRI_HUMAN	T	1885	ENSP00000371994:A1885T	ENSP00000371994:A1885T	A	+	1	0	NYNRIN	23956448	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.169000	0.31871	1.369000	0.46134	0.563000	0.77884	GCC		0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			
OR2T2	401992	hgsc.bcm.edu	37	1	248617054	248617055	+	Frame_Shift_Ins	INS	-	-	TG	rs113236234		TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr1:248617054_248617055insTG	ENST00000342927.3	+	1	978_979	c.956_957insTG	c.(955-960)actgtgfs	p.TV319fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	319						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGGTGGCGACTGTGATCAGGA	0.554																																																	0										272,3982		5,262,1860						-3.7	0.0		dbSNP_132	60	369,7881		0,369,3756	no	frameshift	OR2T2	NM_001004136.1		5,631,5616	A1A1,A1R,RR		4.4727,6.394,5.1264				641,11863				SO:0001589	frameshift_variant	401992			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.959_960dupTG	1.37:g.248617057_248617058dupTG	ENSP00000343062:p.Thr319fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNM1|B9EH01	Frame_Shift_Ins	INS	ENST00000342927.3	37	CCDS31116.1																																																																																				0.554	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1		NM_001004136	
OR2T27	403239	hgsc.bcm.edu	37	1	248813733	248813734	+	Frame_Shift_Ins	INS	-	-	C	rs200669807	byFrequency	TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr1:248813733_248813734insC	ENST00000344889.3	-	1	451_452	c.452_453insG	c.(451-453)ggafs	p.G151fs		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGATAGACCCTCCCAGCCAGGC	0.569													CCC|CCC|CCCC|insertion	124	0.0247604	0.062	0.0303	5008	,	,		20740	0.0		0.0169	False		,,,				2504	0.0041																0										286,3746		15,256,1745						-0.9	0.5			22	137,6167		11,115,3026	no	frameshift	OR2T27	NM_001001824.1		26,371,4771	A1A1,A1R,RR		2.1732,7.0933,4.0925				423,9913				SO:0001589	frameshift_variant	403239				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.453dupG	1.37:g.248813736_248813736dupC	ENSP00000342008:p.Gly151fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Ins	INS	ENST00000344889.3	37	CCDS31124.1																																																																																				0.569	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1		NM_001001824	
OVGP1	5016	hgsc.bcm.edu	37	1	111957519	111957520	+	In_Frame_Ins	INS	-	-	CAGGGGTCAGGGTCTTTTCCC	rs568931117|rs201350653|rs549398942	byFrequency	TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr1:111957519_111957520insCAGGGGTCAGGGTCTTTTCCC	ENST00000369732.3	-	11	1658_1659	c.1603_1604insGGGAAAAGACCCTGACCCCTG	c.(1603-1605)gtg>gGGGAAAAGACCCTGACCCCTGtg	p.534_535insGEKTLTP		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	534					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.T597_V604delTPVSHQSV(2)|p.T533_V540delTPVSHQSV(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CTGATGACTCACAGGGGTCACA	0.545														247	0.0493211	0.1747	0.0144	5008	,	,		16506	0.003		0.0	False		,,,				2504	0.0031																4	Deletion - In frame(4)	haematopoietic_and_lymphoid_tissue(2)|stomach(2)																																								SO:0001652	inframe_insertion	5016			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1603_1604insGGGAAAAGACCCTGACCCCTG	1.37:g.111957519_111957520insCAGGGGTCAGGGTCTTTTCCC	ENSP00000358747:p.Pro534_Val535insGlyGluLysThrLeuThrPro	Somatic		WXS	Illumina HiSeq	Phase_I	A0AV19|B9EGE1|Q15841	In_Frame_Ins	INS	ENST00000369732.3	37	CCDS834.1																																																																																				0.545	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1		NM_002557	
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	82579567	82579567	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr7:82579567T>C	ENST00000333891.9	-	6	10674	c.10337A>G	c.(10336-10338)cAa>cGa	p.Q3446R	PCLO_ENST00000423517.2_Missense_Mutation_p.Q3446R|PCLO_ENST00000437081.1_Missense_Mutation_p.Q166R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCATCCGTTTGTACACCACT	0.433																																																	0													127.0	117.0	120.0					7																	82579567		1945	4151	6096	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10337A>G	7.37:g.82579567T>C	ENSP00000334319:p.Gln3446Arg	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.374064	0.61735	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.35789	1.41;1.41;1.29	5.73	5.73	0.89815	.	.	.	.	.	T	0.55481	0.1923	M	0.75615	2.305	0.52501	D	0.999958	P;D;D	0.59767	0.92;0.986;0.986	B;P;P	0.56088	0.441;0.791;0.791	T	0.61158	-0.7119	9	0.87932	D	0	.	16.0174	0.80450	0.0:0.0:0.0:1.0	.	3377;3446;3446	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	R	3377;3446;3446;166	ENSP00000334319:Q3446R;ENSP00000388393:Q3446R;ENSP00000393760:Q166R	ENSP00000334319:Q3446R	Q	-	2	0	PCLO	82417503	1.000000	0.71417	0.285000	0.24819	0.961000	0.63080	7.857000	0.86963	2.186000	0.69663	0.533000	0.62120	CAA		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510	
PDCL2	132954	broad.mit.edu	37	4	56448342	56448342	+	Silent	SNP	T	T	C			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr4:56448342T>C	ENST00000295645.4	-	2	171	c.69A>G	c.(67-69)aaA>aaG	p.K23K		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	23										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TTGACTCTTCTTTAGGAGGAA	0.353																																																	0													158.0	144.0	148.0					4																	56448342		1846	4091	5937	SO:0001819	synonymous_variant	132954			BC034431	CCDS47059.1	4q12	2008-02-05			ENSG00000163440	ENSG00000163440			29524	protein-coding gene	gene with protein product		611676				12424248	Standard	NM_152401		Approved	GCPHLP	uc003hbb.3	Q8N4E4	OTTHUMG00000160674	ENST00000295645.4:c.69A>G	4.37:g.56448342T>C		Somatic		WXS	Illumina GAIIx	Phase_I	A8MWA2|B9ZVQ9	Silent	SNP	ENST00000295645.4	37	CCDS47059.1																																																																																				0.353	PDCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361659.1		NM_152401	
PRB1	5542	hgsc.bcm.edu	37	12	11506336	11506336	+	Intron	SNP	G	G	T	rs575666387	byFrequency	TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr12:11506336G>T	ENST00000500254.2	-	4	351				PRB1_ENST00000545626.1_Intron|PRB1_ENST00000546254.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGAGGAGGTGGGGGACCTTG	0.612													g|||	13	0.00259585	0.0083	0.0029	5008	,	,		12845	0.0		0.0	False		,,,				2504	0.0																0													62.0	66.0	65.0					12																	11506336		1991	4127	6118	SO:0001627	intron_variant	5542				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.314-12C>A	12.37:g.11506336G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	CCDS8642.1																																																																																				0.612	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1		NM_005039	
PTGDR	5729	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	52741643	52741643	+	Silent	SNP	C	C	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr14:52741643C>T	ENST00000306051.2	+	2	1143	c.1041C>T	c.(1039-1041)agC>agT	p.S347S	PTGDR_ENST00000553372.1_3'UTR	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	347					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GGTACAGGAGCCGGTGCAGCA	0.388																																																	0													47.0	44.0	45.0					14																	52741643		2203	4300	6503	SO:0001819	synonymous_variant	5729			U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.1041C>T	14.37:g.52741643C>T		Somatic		WXS	Illumina HiSeq	Phase_I	G3V5L3|Q13250|Q13251|Q1ZZ52	Silent	SNP	ENST00000306051.2	37	CCDS9707.1																																																																																				0.388	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1		NM_000953	
RGMA	56963	broad.mit.edu	37	15	93588747	93588747	+	Silent	SNP	G	G	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr15:93588747G>T	ENST00000329082.7	-	4	1105	c.834C>A	c.(832-834)ggC>ggA	p.G278G	RGMA_ENST00000543599.1_Silent_p.G262G|RGMA_ENST00000425933.2_Silent_p.G262G|RGMA_ENST00000557301.1_Silent_p.G286G|RGMA_ENST00000556658.1_Silent_p.G169G|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000538818.1_Silent_p.G169G|RGMA_ENST00000542321.2_Silent_p.G262G	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	278					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.G278G(2)|p.G286G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			CGATGGTGGTGCCGATGTACT	0.612																																																	3	Substitution - coding silent(3)	endometrium(2)|prostate(1)																																								SO:0001819	synonymous_variant	56963			AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"""RGM domain family, member A"""			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.834C>A	15.37:g.93588747G>T		Somatic		WXS	Illumina GAIIx	Phase_I	B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Silent	SNP	ENST00000329082.7	37	CCDS45357.1																																																																																				0.612	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1		NM_020211	
RLTPR	146206	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67690372	67690372	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr16:67690372C>T	ENST00000334583.6	+	35	4188	c.3860C>T	c.(3859-3861)gCc>gTc	p.A1287V	RLTPR_ENST00000545661.1_Missense_Mutation_p.A1251V	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1287					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCTGAGTCTGCCACCTGGAAG	0.627																																																	0													25.0	29.0	28.0					16																	67690372		1956	4146	6102	SO:0001583	missense	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.3860C>T	16.37:g.67690372C>T	ENSP00000334958:p.Ala1287Val	Somatic		WXS	Illumina HiSeq	Phase_I	B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	C	9.666	1.145335	0.21288	.	.	ENSG00000159753	ENST00000334583;ENST00000398282;ENST00000545661	T;T	0.14022	2.58;2.54	4.72	2.61	0.31194	.	0.822055	0.10710	N	0.642905	T	0.05044	0.0135	N	0.02539	-0.55	0.09310	N	0.999995	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.25257	-1.0137	10	0.37606	T	0.19	-16.0127	5.3555	0.16059	0.0:0.6798:0.2095:0.1107	.	1251;1287	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	V	1287;384;1251	ENSP00000334958:A1287V;ENSP00000441481:A1251V	ENSP00000334958:A1287V	A	+	2	0	RLTPR	66247873	0.002000	0.14202	0.871000	0.34182	0.363000	0.29612	1.113000	0.31184	2.333000	0.79357	0.491000	0.48974	GCC		0.627	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1		NM_001013838	
RRP12	23223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99145673	99145673	+	Silent	SNP	C	C	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr10:99145673C>T	ENST00000370992.4	-	9	1206	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	RRP12_ENST00000536831.1_Silent_p.E83E|RRP12_ENST00000315563.6_Silent_p.E265E|RRP12_ENST00000414986.1_Silent_p.E304E	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	365						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGGCGTTGAGCTCTGCTGACA	0.647																																																	0													76.0	45.0	55.0					10																	99145673		2202	4300	6502	SO:0001819	synonymous_variant	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.1095G>A	10.37:g.99145673C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	CCDS7457.1																																																																																				0.647	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4		NM_015179	
SCN11A	11280	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	38888542	38888542	+	Silent	SNP	G	G	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr3:38888542G>T	ENST00000302328.3	-	26	5217	c.5019C>A	c.(5017-5019)ccC>ccA	p.P1673P	SCN11A_ENST00000450244.1_Silent_p.P1673P|SCN11A_ENST00000456224.3_Silent_p.P1635P	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1673					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACTCACCATGGGCAAGTCCA	0.453																																																	0													92.0	95.0	94.0					3																	38888542		2203	4300	6503	SO:0001819	synonymous_variant	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.5019C>A	3.37:g.38888542G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	CCDS33737.1																																																																																				0.453	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4		NM_014139	
SGK223	157285	hgsc.bcm.edu;ucsc.edu	37	8	8185255	8185256	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr8:8185255_8185256insAA	ENST00000520004.1	-	5	3300_3301	c.3036_3037insTT	c.(3034-3039)tctgagfs	p.E1013fs	SGK223_ENST00000330777.4_Frame_Shift_Ins_p.E1013fs			Q86YV5	SG223_HUMAN		1015	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CCGGGGTCCTCAGAGCAGGTGG	0.55																																					GBM(34;731 755 10259 33573 33867)												0																																										SO:0001589	frameshift_variant	157285																														ENST00000520004.1:c.3036_3037insTT	8.37:g.8185255_8185256insAA	ENSP00000428054:p.Glu1013fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N3N5	Frame_Shift_Ins	INS	ENST00000520004.1	37	CCDS43706.1																																																																																				0.550	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			
SLC29A1	2030	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	44197391	44197391	+	Silent	SNP	C	C	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr6:44197391C>T	ENST00000393841.1	+	5	668	c.177C>T	c.(175-177)gaC>gaT	p.D59D	SLC29A1_ENST00000371740.5_Silent_p.D59D|SLC29A1_ENST00000427851.2_Silent_p.D59D|SLC29A1_ENST00000313248.7_Silent_p.D138D|SLC29A1_ENST00000371755.3_Silent_p.D59D|SLC29A1_ENST00000371731.1_Silent_p.D59D|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371713.1_Silent_p.D59D|SLC29A1_ENST00000371724.1_Silent_p.D59D|SLC29A1_ENST00000393844.1_Silent_p.D59D|SLC29A1_ENST00000371708.1_Silent_p.D59D	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	59					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	TGAGCAAGGACGCCCAGGCGT	0.562																																																	0													121.0	117.0	118.0					6																	44197391		2203	4300	6503	SO:0001819	synonymous_variant	2030			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.177C>T	6.37:g.44197391C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	ENST00000393841.1	37	CCDS4908.1																																																																																				0.562	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			
SMEK1	55671	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	91942217	91942217	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr14:91942217G>C	ENST00000554943.1	-	7	1319	c.1204C>G	c.(1204-1206)Cag>Gag	p.Q402E	SMEK1_ENST00000337238.4_Missense_Mutation_p.Q402E|SMEK1_ENST00000554684.1_Missense_Mutation_p.Q402E|SMEK1_ENST00000428424.2_Missense_Mutation_p.Q163E|SMEK1_ENST00000555462.1_Missense_Mutation_p.Q163E			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	402					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TGTGCCTCCTGCATGACAAAC	0.363																																																	0													116.0	103.0	107.0					14																	91942217		2203	4300	6503	SO:0001583	missense	55671			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1204C>G	14.37:g.91942217G>C	ENSP00000450883:p.Gln402Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.262820|4.262820	0.80358|0.80358	.|.	.|.	ENSG00000100796|ENSG00000100796	ENST00000555470|ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390;ENST00000555029;ENST00000417249	.|T;T;T;T;T;T;T	.|0.40756	.|1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.31|5.31	5.31|5.31	0.75309|0.75309	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46483|0.46483	0.1395|0.1395	L|L	0.31294|0.31294	0.92|0.92	0.80722|0.80722	D|D	1|1	.|P;P;P;P	.|0.44877	.|0.811;0.792;0.76;0.845	.|P;B;B;P	.|0.54924	.|0.764;0.337;0.269;0.458	T|T	0.14200|0.14200	-1.0481|-1.0481	5|10	.|0.12103	.|T	.|0.63	-5.415|-5.415	18.974|18.974	0.92728|0.92728	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|163;402;402;402	.|Q6IN85-4;G3V5Z3;Q6IN85;Q6IN85-2	.|.;.;P4R3A_HUMAN;.	G|E	181|402;402;163;402;163;402;163;192	.|ENSP00000450864:Q402E;ENSP00000337125:Q402E;ENSP00000392704:Q163E;ENSP00000450883:Q402E;ENSP00000450891:Q163E;ENSP00000452596:Q402E;ENSP00000452257:Q163E	.|ENSP00000337125:Q402E	A|Q	-|-	2|1	0|0	SMEK1|SMEK1	91011970|91011970	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.809000|9.809000	0.99208|0.99208	2.495000|2.495000	0.84180|0.84180	0.591000|0.591000	0.81541|0.81541	GCA|CAG		0.363	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1		NM_032560	
SPRR3	6707	hgsc.bcm.edu	37	1	152975715	152975715	+	Silent	SNP	C	C	T	rs28989168	byFrequency	TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr1:152975715C>T	ENST00000295367.4	+	2	261	c.219C>T	c.(217-219)ggC>ggT	p.G73G	SPRR3_ENST00000331860.3_Silent_p.G73G|SPRR3_ENST00000542696.1_Silent_p.G73G	NM_001097589.1	NP_001091058.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	73	14 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGAGCCAGGCTGTACCAAGG	0.577													T|||	2	0.000399361	0.0015	0.0	5008	,	,		14904	0.0		0.0	False		,,,				2504	0.0																0													42.0	39.0	40.0					1																	152975715		2182	4268	6450	SO:0001819	synonymous_variant	6707			AY118269	CCDS1033.1	1q21-q22	2008-02-05			ENSG00000163209	ENSG00000163209			11268	protein-coding gene	gene with protein product		182271				8325635	Standard	NM_005416		Approved		uc001faz.4	Q9UBC9	OTTHUMG00000013872	ENST00000295367.4:c.219C>T	1.37:g.152975715C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A5YKK8|B2R4G8|D3DV32|O75597|Q4ZGI7|Q5T525|Q8NET7|Q9UDG3	Silent	SNP	ENST00000295367.4	37	CCDS1033.1																																																																																				0.577	SPRR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038910.1		NM_005416	
SQRDL	58472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45965852	45965852	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr15:45965852T>G	ENST00000260324.7	+	5	893	c.507T>G	c.(505-507)aaT>aaG	p.N169K	SQRDL_ENST00000568606.1_Missense_Mutation_p.N169K|RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.N169K	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	169					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TAGGGTCGAATTATTCAGTTA	0.398																																																	0													146.0	149.0	148.0					15																	45965852		2198	4297	6495	SO:0001583	missense	58472			AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.507T>G	15.37:g.45965852T>G	ENSP00000260324:p.Asn169Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UQM8	Missense_Mutation	SNP	ENST00000260324.7	37	CCDS10127.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111770	0.77210	.	.	ENSG00000137767	ENST00000260324	T	0.50548	0.74	5.62	3.29	0.37713	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.69441	0.3111	H	0.96489	3.83	0.58432	D	0.999999	P	0.48764	0.915	P	0.55161	0.77	T	0.70648	-0.4814	10	0.59425	D	0.04	.	7.2018	0.25885	0.0:0.2669:0.0:0.7331	.	169	Q9Y6N5	SQRD_HUMAN	K	169	ENSP00000260324:N169K	ENSP00000260324:N169K	N	+	3	2	SQRDL	43753144	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.085000	0.50151	0.415000	0.25817	0.460000	0.39030	AAT		0.398	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			
TAS1R3	83756	broad.mit.edu;hgsc.bcm.edu	37	1	1268924	1268924	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr1:1268924T>G	ENST00000339381.5	+	6	1671	c.1639T>G	c.(1639-1641)Tcc>Gcc	p.S547A		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	547					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GGATGAGTGGTCCCCGGAGCG	0.647																																																	0													50.0	57.0	54.0					1																	1268924		2202	4300	6502	SO:0001583	missense	83756			AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1639T>G	1.37:g.1268924T>G	ENSP00000344411:p.Ser547Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.309484	0.40895	.	.	ENSG00000169962	ENST00000339381	D	0.90955	-2.76	4.16	4.16	0.48862	GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	L	0.61387	1.9	0.33276	D	0.561688	D	0.69078	0.997	P	0.62298	0.9	D	0.92594	0.6085	10	0.52906	T	0.07	.	5.8202	0.18524	0.0:0.0878:0.1693:0.743	.	547	Q7RTX0	TS1R3_HUMAN	A	547	ENSP00000344411:S547A	ENSP00000344411:S547A	S	+	1	0	TAS1R3	1258787	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	2.971000	0.49248	1.768000	0.52137	0.374000	0.22700	TCC		0.647	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			
TCEAL6	158931	hgsc.bcm.edu	37	X	101396082	101396082	+	Silent	SNP	A	A	G			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chrX:101396082A>G	ENST00000372774.3	-	3	471	c.222T>C	c.(220-222)ggT>ggC	p.G74G	TCEAL6_ENST00000372773.1_Silent_p.G74G	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	74	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						GCTTGCCCTCACCTTCGGACT	0.622																																																	0													113.0	102.0	106.0					X																	101396082		2203	4300	6503	SO:0001819	synonymous_variant	158931			BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.222T>C	X.37:g.101396082A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q5H9J8	Silent	SNP	ENST00000372774.3	37	CCDS43978.1																																																																																				0.622	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1		NM_001006938	
Unknown	0	broad.mit.edu	37	12	92109	92109	+	IGR	SNP	C	C	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr12:92109C>T								AC215219.1 (18787 upstream) : AC026369.1 (54942 downstream)																							AAGGGCGCAGCGCCAGGCAGT	0.592																																																	0																																										SO:0001628	intergenic_variant	0																															12.37:g.92109C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP		37																																																																																				0	0.592									
NPIPA8	101059953	broad.mit.edu	37	16	18442362	18442362	+	5'Flank	SNP	G	G	A	rs371232453	byFrequency	TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr16:18442362G>A	ENST00000339303.5	-	0	0							P0DM63	NPIA8_HUMAN	nuclear pore complex interacting protein family, member A8																		CTGCGCGGGGGGCCCCGCGGG	0.682													g|||	579	0.115615	0.1135	0.1066	5008	,	,		17482	0.0784		0.1441	False		,,,				2504	0.1339																0																																										SO:0001631	upstream_gene_variant	0				CCDS61865.1	16p12.3	2013-06-11			ENSG00000214940	ENSG00000214940			41983	protein-coding gene	gene with protein product	"""morpheus gene family member 9"""					11586358	Standard	NM_001282511		Approved	LCR16a9		P0DM63	OTTHUMG00000166284		16.37:g.18442362G>A	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000339303.5	37																																																																																					0.682	NPIPA8-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				
ZNF215	7762	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6964378	6964378	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr11:6964378C>G	ENST00000278319.5	+	5	1136	c.548C>G	c.(547-549)tCt>tGt	p.S183C	ZNF215_ENST00000527171.1_Intron|ZNF215_ENST00000529903.1_Missense_Mutation_p.S183C|ZNF215_ENST00000414517.2_Missense_Mutation_p.S183C	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	183	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CAACTGGACTCTGCTGTAAAG	0.398																																																	0													163.0	155.0	158.0					11																	6964378		2201	4296	6497	SO:0001583	missense	7762			AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.548C>G	11.37:g.6964378C>G	ENSP00000278319:p.Ser183Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092707	0.36952	.	.	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	T;T;T	0.01933	4.55;4.55;4.55	4.38	4.38	0.52667	Krueppel-associated box (4);	0.596683	0.14065	N	0.343806	T	0.05868	0.0153	L	0.39020	1.185	0.27254	N	0.958823	D;D	0.63046	0.992;0.992	P;P	0.57371	0.819;0.754	T	0.22208	-1.0223	10	0.87932	D	0	2.3744	12.6584	0.56799	0.0:1.0:0.0:0.0	.	183;183	Q96C84;Q9UL58	.;ZN215_HUMAN	C	183	ENSP00000278319:S183C;ENSP00000393202:S183C;ENSP00000432306:S183C	ENSP00000278319:S183C	S	+	2	0	ZNF215	6920954	0.000000	0.05858	1.000000	0.80357	0.978000	0.69477	0.481000	0.22260	2.438000	0.82558	0.655000	0.94253	TCT		0.398	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			
ZNF844	284391	broad.mit.edu;hgsc.bcm.edu	37	19	12187458	12187458	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr19:12187458A>T	ENST00000439326.3	+	4	1698	c.1523A>T	c.(1522-1524)aAt>aTt	p.N508I	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	508					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AGTGTAAGCAATGTGGGAAAG	0.408																																																	0													88.0	79.0	82.0					19																	12187458		692	1591	2283	SO:0001583	missense	284391			AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1523A>T	19.37:g.12187458A>T	ENSP00000392024:p.Asn508Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.169067	0.38315	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.06849	3.25	2.45	-4.91	0.03085	.	.	.	.	.	T	0.06096	0.0158	L	0.47078	1.49	0.53688	D	0.999979	P	0.45902	0.868	B	0.38842	0.283	T	0.25152	-1.0140	9	0.51188	T	0.08	.	6.1409	0.20259	0.3002:0.0:0.5675:0.1323	.	508	Q08AG5	ZN844_HUMAN	I	508	ENSP00000392024:N508I	ENSP00000392024:N508I	N	+	2	0	ZNF844	12048458	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	-5.779000	0.00099	-1.747000	0.01333	0.338000	0.21704	AAT		0.408	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			
