#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_refseq_mrna_id	i_secondary_variant_classification
PPRC1	23082	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	10	103899427	103899427	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr10:103899427C>A	ENST00000278070.2	+	5	1201	c.1162C>A	c.(1162-1164)Cag>Aag	p.Q388K	PPRC1_ENST00000413464.2_Missense_Mutation_p.Q388K|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TTCTGCCTTGCAGCTGCTTAT	0.562																																						.											0													124.0	132.0	130.0					10																	103899427		2203	4300	6503	SO:0001583	missense	23082			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.1162C>A	10.37:g.103899427C>A	ENSP00000278070:p.Gln388Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	9.753	1.168029	0.21621	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.28666	1.6;1.6	5.93	4.01	0.46588	.	0.522486	0.19991	N	0.101562	T	0.16171	0.0389	N	0.17082	0.46	0.09310	N	0.999999	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.09377	0.002;0.004;0.002	T	0.28618	-1.0038	10	0.09084	T	0.74	.	9.4455	0.38695	0.1607:0.5575:0.2817:0.0	.	388;268;388	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	K	388	ENSP00000278070:Q388K;ENSP00000399743:Q388K	ENSP00000278070:Q388K	Q	+	1	0	PPRC1	103889417	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	0.680000	0.25306	0.771000	0.33359	0.555000	0.69702	CAG		0.562	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062	
FAM189B	10712	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	155221684	155221684	+	Missense_Mutation	SNP	G	G	A	rs534103219		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr1:155221684G>A	ENST00000361361.2	-	6	1143	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	FAM189B_ENST00000368368.3_Missense_Mutation_p.R194W|FAM189B_ENST00000350210.2_Missense_Mutation_p.R116W|FAM189B_ENST00000472550.1_5'UTR	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	212						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GAGACTGACCGCTCAGGGGCC	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11922	0.0		0.0	False		,,,				2504	0.0					.											0																																										SO:0001583	missense	10712			AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 2"""	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.634C>T	1.37:g.155221684G>A	ENSP00000354958:p.Arg212Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	ENST00000361361.2	37	CCDS1103.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551615	0.86127	.	.	ENSG00000160767	ENST00000350210;ENST00000333966;ENST00000368368;ENST00000361361;ENST00000491082	T;T;T;T	0.03689	3.84;3.88;3.84;3.84	4.32	4.32	0.51571	.	0.229602	0.39146	N	0.001442	T	0.03827	0.0108	L	0.45352	1.415	0.40489	D	0.980527	D;D;D	0.64830	0.991;0.994;0.978	P;P;P	0.51016	0.549;0.656;0.451	T	0.40646	-0.9552	10	0.87932	D	0	.	12.5139	0.56021	0.0:0.0:1.0:0.0	.	194;116;212	B1AVS5;P81408-2;P81408	.;.;F189B_HUMAN	W	116;116;194;212;116	ENSP00000307128:R116W;ENSP00000357352:R194W;ENSP00000354958:R212W;ENSP00000427011:R116W	ENSP00000333944:R116W	R	-	1	2	FAM189B	153488308	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.671000	0.83941	2.403000	0.81681	0.561000	0.74099	CGG		0.617	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589	
ASTN1	460	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	176915167	176915167	+	Missense_Mutation	SNP	C	C	T	rs202163703		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr1:176915167C>T	ENST00000367654.3	-	13	2379	c.2168G>A	c.(2167-2169)aGc>aAc	p.S723N	ASTN1_ENST00000424564.2_Missense_Mutation_p.S715N|ASTN1_ENST00000361833.2_Missense_Mutation_p.S715N|ASTN1_ENST00000367657.3_Missense_Mutation_p.S715N|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	723					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AAGCTCCCTGCTTTCCCCACA	0.537																																						.											0													114.0	106.0	109.0					1																	176915167		2203	4300	6503	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2168G>A	1.37:g.176915167C>T	ENSP00000356626:p.Ser723Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	C	12.15	1.852937	0.32699	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15256	2.44;2.86;2.86;2.44	5.25	4.34	0.51931	.	0.308242	0.40385	N	0.001120	T	0.06645	0.0170	N	0.03608	-0.345	0.26601	N	0.97302	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.21793	-1.0235	10	0.34782	T	0.22	-11.2963	5.3714	0.16142	0.1496:0.629:0.1443:0.0771	.	723;715;715	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	715;715;723;715;715	ENSP00000356629:S715N;ENSP00000354536:S715N;ENSP00000356626:S723N;ENSP00000395041:S715N	ENSP00000354536:S715N	S	-	2	0	ASTN1	175181790	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.890000	0.39728	1.212000	0.43366	0.655000	0.94253	AGC		0.537	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	
RCVRN	5957	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	17	9808240	9808240	+	Silent	SNP	G	G	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr17:9808240G>A	ENST00000226193.5	-	1	698	c.258C>T	c.(256-258)taC>taT	p.Y86Y		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	86	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GGGCGATGACGTACTCCTTGA	0.607																																						.											0													191.0	140.0	158.0					17																	9808240		2203	4300	6503	SO:0001819	synonymous_variant	5957			BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"""EF-hand domain containing"""	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.258C>T	17.37:g.9808240G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q53XL0	Silent	SNP	ENST00000226193.5	37	CCDS11151.1																																																																																				0.607	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	NM_002903	
DBP	1628	hgsc.bcm.edu	37	19	49134133	49134155	+	Frame_Shift_Del	DEL	GGCGCGGTAGTGGGACAGCTCCT	GGCGCGGTAGTGGGACAGCTCCT	-			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	GGCGCGGTAGTGGGACAGCTCCT	GGCGCGGTAGTGGGACAGCTCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:49134133_49134155delGGCGCGGTAGTGGGACAGCTCCT	ENST00000222122.5	-	4	1360_1382	c.917_939delAGGAGCTGTCCCACTACCGCGCC	c.(916-939)caggagctgtcccactaccgcgccfs	p.QELSHYRA306fs	DBP_ENST00000593500.1_Frame_Shift_Del_p.QELSHYRA104fs|DBP_ENST00000599385.1_Frame_Shift_Del_p.QELSHYRA104fs	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	306	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				liver development (GO:0001889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		GGGACAGCACGGCGCGGTAGTGGGACAGCTCCTGGCGCACGGC	0.682																																						.											0																																										SO:0001589	frameshift_variant	1628			U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.917_939delAGGAGCTGTCCCACTACCGCGCC	19.37:g.49134133_49134155delGGCGCGGTAGTGGGACAGCTCCT	ENSP00000222122:p.Gln306fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2I2P4	Frame_Shift_Del	DEL	ENST00000222122.5	37	CCDS12728.1																																																																																				0.682	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	NM_001352	
SHANK1	50944	hgsc.bcm.edu;mdanderson.org	37	19	51169881	51169881	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:51169881G>A	ENST00000293441.1	-	22	5354	c.5336C>T	c.(5335-5337)cCt>cTt	p.P1779L	SHANK1_ENST00000391814.1_Missense_Mutation_p.P1787L|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.P1770L|SHANK1_ENST00000391813.1_Missense_Mutation_p.P1166L	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1779					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGGGGTAACAGGGTCTCGGAG	0.711																																						.											0													5.0	6.0	6.0					19																	51169881		1822	3762	5584	SO:0001583	missense	50944			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.5336C>T	19.37:g.51169881G>A	ENSP00000293441:p.Pro1779Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	7.206	0.594517	0.13875	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.39592	1.2;1.33;1.16;1.07	2.35	2.35	0.29111	.	0.146929	0.25944	U	0.027299	T	0.37128	0.0992	L	0.58810	1.83	0.47862	D	0.999533	B;P	0.34639	0.197;0.461	B;B	0.33339	0.024;0.162	T	0.36648	-0.9739	10	0.41790	T	0.15	.	11.7963	0.52102	0.0:0.0:1.0:0.0	.	1779;1166	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	L	1779;1166;1770;1787	ENSP00000293441:P1779L;ENSP00000375689:P1166L;ENSP00000351984:P1770L;ENSP00000375690:P1787L	ENSP00000293441:P1779L	P	-	2	0	SHANK1	55861693	0.982000	0.34865	0.990000	0.47175	0.547000	0.35210	2.567000	0.45956	1.334000	0.45468	0.195000	0.17529	CCT		0.711	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	
HSPA12B	116835	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	20	3730674	3730674	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr20:3730674C>G	ENST00000254963.2	+	11	1246	c.1101C>G	c.(1099-1101)atC>atG	p.I367M	HSPA12B_ENST00000542646.1_Missense_Mutation_p.I201M	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	367							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						TGTGCCGCATCTTCGGCGAGG	0.682																																						.											0													13.0	13.0	13.0					20																	3730674		2194	4299	6493	SO:0001583	missense	116835			AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"""Heat shock proteins / HSP70"""	16193	protein-coding gene	gene with protein product		610702	"""chromosome 20 open reading frame 60"""	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.1101C>G	20.37:g.3730674C>G	ENSP00000254963:p.Ile367Met	Somatic		WXS	Illumina HiSeq	Phase_I	D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	ENST00000254963.2	37	CCDS13061.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.689871	0.68271	.	.	ENSG00000132622	ENST00000254963;ENST00000542646;ENST00000399701	T;T;T	0.09538	2.97;2.97;2.97	5.18	2.07	0.26955	.	0.049499	0.85682	D	0.000000	T	0.19127	0.0459	L	0.48174	1.505	0.46376	D	0.999015	D;D	0.64830	0.994;0.991	D;D	0.71656	0.947;0.974	T	0.02015	-1.1229	10	0.34782	T	0.22	.	6.3321	0.21276	0.4965:0.4163:0.0:0.0872	.	366;367	B7ZLP2;Q96MM6	.;HS12B_HUMAN	M	367;201;281	ENSP00000254963:I367M;ENSP00000441506:I201M;ENSP00000382608:I281M	ENSP00000254963:I367M	I	+	3	3	HSPA12B	3678674	0.031000	0.19500	1.000000	0.80357	0.981000	0.71138	-0.739000	0.04866	0.647000	0.30713	-0.279000	0.10071	ATC		0.682	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970	
CSF1R	1436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	149460495	149460495	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr5:149460495C>T	ENST00000286301.3	-	3	433	c.142G>A	c.(142-144)Gtg>Atg	p.V48M	CSF1R_ENST00000543093.1_Missense_Mutation_p.V48M	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	48	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TCCCATTCCACGCTGCCATTG	0.597																																						.											0													126.0	88.0	101.0					5																	149460495		2203	4300	6503	SO:0001583	missense	1436			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.142G>A	5.37:g.149460495C>T	ENSP00000286301:p.Val48Met	Somatic		WXS	Illumina HiSeq	Phase_I	B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594279	0.46214	.	.	ENSG00000182578	ENST00000286301;ENST00000543093	T;T	0.35236	1.32;1.32	5.76	4.88	0.63580	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000146	T	0.60612	0.2282	M	0.88704	2.975	0.49051	D	0.999749	D;D;D	0.89917	1.0;1.0;0.998	P;P;B	0.60609	0.876;0.877;0.435	T	0.68138	-0.5488	10	0.87932	D	0	.	11.0419	0.47835	0.0:0.9135:0.0:0.0865	.	48;48;48	B4DG86;B5A955;P07333	.;.;CSF1R_HUMAN	M	48	ENSP00000286301:V48M;ENSP00000445282:V48M	ENSP00000286301:V48M	V	-	1	0	CSF1R	149440688	0.882000	0.30256	0.871000	0.34182	0.140000	0.21249	1.419000	0.34793	1.432000	0.47375	0.655000	0.94253	GTG		0.597	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211	
APOO	79135	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	X	23874422	23874422	+	Silent	SNP	T	T	C			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chrX:23874422T>C	ENST00000379226.4	-	7	789	c.558A>G	c.(556-558)caA>caG	p.Q186Q	APOO_ENST00000379220.3_Silent_p.Q167Q	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	186					lipid transport (GO:0006869)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|mitochondrion (GO:0005739)|very-low-density lipoprotein particle (GO:0034361)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						TCCTCACCTTTTGAAAGTTCT	0.333																																						.											0													149.0	153.0	151.0					X																	23874422		2203	4300	6503	SO:0001819	synonymous_variant	79135			BC016814	CCDS14208.1	Xp22.11	2013-01-24	2007-01-17	2007-01-17	ENSG00000184831	ENSG00000184831		"""Apolipoproteins"""	28727	protein-coding gene	gene with protein product		300753	"""family with sequence similarity 121B"""	FAM121B		12975309, 16956892	Standard	NR_026545		Approved	MGC4825, My025	uc004dax.3	Q9BUR5	OTTHUMG00000021259	ENST00000379226.4:c.558A>G	X.37:g.23874422T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2R4K9|Q9H3J9	Silent	SNP	ENST00000379226.4	37	CCDS14208.1																																																																																				0.333	APOO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056074.1	NM_024122	
ALPK2	115701	hgsc.bcm.edu	37	18	56202992	56202992	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr18:56202992T>C	ENST00000361673.3	-	5	4640	c.4427A>G	c.(4426-4428)aAg>aGg	p.K1476R	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1476			K -> T (in a melanoma metastatic sample; somatic mutation). {ECO:0000269|PubMed:17344846}.			nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K837T(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGCCTCCTGCTTCATACTGCC	0.493																																						.											1	Substitution - Missense(1)	ovary(1)											57.0	59.0	58.0					18																	56202992		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.4427A>G	18.37:g.56202992T>C	ENSP00000354991:p.Lys1476Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.456971	0.01071	.	.	ENSG00000198796	ENST00000361673	T	0.37411	1.2	3.9	2.0	0.26442	.	156.464000	0.00166	N	0.000000	T	0.19685	0.0473	N	0.13098	0.295	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24225	-1.0166	10	0.02654	T	1	-0.5955	4.7766	0.13182	0.0:0.6527:0.222:0.1254	.	1471;1476	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	R	1476	ENSP00000354991:K1476R	ENSP00000354991:K1476R	K	-	2	0	ALPK2	54353972	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.134000	0.10436	0.534000	0.28695	-0.456000	0.05471	AAG		0.493	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
SLC5A10	125206	hgsc.bcm.edu	37	17	18923480	18923480	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr17:18923480A>G	ENST00000395645.3	+	14	1657	c.1639A>G	c.(1639-1641)Acc>Gcc	p.T547A	SLC5A10_ENST00000317977.6_Missense_Mutation_p.T517A|SLC5A10_ENST00000395643.2_Missense_Mutation_p.T520A|SLC5A10_ENST00000395647.2_Missense_Mutation_p.T563A|SLC5A10_ENST00000417251.2_Missense_Mutation_p.T511A|SLC5A10_ENST00000395642.1_Missense_Mutation_p.T517A	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	547					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TGAGAACCTTACCTGGTGGAC	0.577																																						.											0													112.0	106.0	108.0					17																	18923480		2203	4300	6503	SO:0001583	missense	125206				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1639A>G	17.37:g.18923480A>G	ENSP00000379007:p.Thr547Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.398343	0.62177	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.92048	-2.96;-2.43;-2.96;-2.45;-2.36;-2.47	5.43	5.43	0.79202	.	0.138064	0.64402	D	0.000003	D	0.94172	0.8130	M	0.87682	2.9	0.58432	D	0.999995	P;P;P;P;P	0.48911	0.773;0.917;0.864;0.917;0.859	B;P;B;P;P	0.47786	0.354;0.557;0.265;0.557;0.511	D	0.94730	0.7909	10	0.59425	D	0.04	.	14.6029	0.68453	1.0:0.0:0.0:0.0	.	511;520;547;563;517	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	A	517;563;517;511;547;520	ENSP00000324346:T517A;ENSP00000379008:T563A;ENSP00000379004:T517A;ENSP00000401875:T511A;ENSP00000379007:T547A;ENSP00000379005:T520A	ENSP00000324346:T517A	T	+	1	0	SLC5A10	18864205	0.937000	0.31787	0.954000	0.39281	0.964000	0.63967	6.425000	0.73370	2.191000	0.70037	0.529000	0.55759	ACC		0.577	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351	
ZNF439	90594	hgsc.bcm.edu	37	19	11979212	11979212	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:11979212G>A	ENST00000304030.2	+	3	1528	c.1328G>A	c.(1327-1329)tGt>tAt	p.C443Y	ZNF439_ENST00000455282.1_Missense_Mutation_p.C307Y|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						TGTAAGGAATGTGGGAAAGCT	0.438																																						.											0													69.0	64.0	66.0					19																	11979212		2203	4300	6503	SO:0001583	missense	90594			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1328G>A	19.37:g.11979212G>A	ENSP00000305077:p.Cys443Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	g	14.21	2.468878	0.43839	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	D;D	0.85861	-2.04;-2.04	0.749	0.749	0.18381	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93245	0.7848	H	0.95294	3.65	0.40313	D	0.978732	D	0.89917	1.0	D	0.97110	1.0	D	0.92639	0.6123	9	0.87932	D	0	.	9.0493	0.36367	0.0:0.0:1.0:0.0	.	443	Q8NDP4	ZN439_HUMAN	Y	307;443	ENSP00000395632:C307Y;ENSP00000305077:C443Y	ENSP00000305077:C443Y	C	+	2	0	ZNF439	11840212	1.000000	0.71417	0.008000	0.14137	0.080000	0.17528	7.315000	0.78998	0.716000	0.32124	0.194000	0.17425	TGT		0.438	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1		
CORIN	10699	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	4	47667069	47667069	+	Silent	SNP	G	G	A	rs61760489		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr4:47667069G>A	ENST00000273857.4	-	11	1568	c.1569C>T	c.(1567-1569)ggC>ggT	p.G523G	CORIN_ENST00000504584.1_Silent_p.G486G|CORIN_ENST00000502252.1_Silent_p.G456G|CORIN_ENST00000505909.1_Silent_p.G486G|CORIN_ENST00000508498.1_Silent_p.G384G	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	523	FZ 2. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GGATATGCTCGCCTGTATTCA	0.423																																						.											0								G		0,4406		0,0,2203	81.0	82.0	82.0		1569	1.5	0.1	4	dbSNP_129	82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CORIN	NM_006587.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		523/1043	47667069	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10699			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1569C>T	4.37:g.47667069G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	CCDS3477.1																																																																																				0.423	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2		
HOOK1	51361	broad.mit.edu	37	1	60314061	60314061	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr1:60314061A>G	ENST00000371208.3	+	11	1261	c.1004A>G	c.(1003-1005)gAc>gGc	p.D335G	HOOK1_ENST00000395561.2_Missense_Mutation_p.D293G|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	335	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GATCTGAATGACCTTCGCAAG	0.363																																						.											0													89.0	85.0	87.0					1																	60314061		2203	4300	6503	SO:0001583	missense	51361			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1004A>G	1.37:g.60314061A>G	ENSP00000360252:p.Asp335Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	CCDS612.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.719856	0.89205	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.27557	1.66;1.66	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	M	0.77486	2.375	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.53019	-0.8497	10	0.22109	T	0.4	.	16.3432	0.83101	1.0:0.0:0.0:0.0	.	335	Q9UJC3	HOOK1_HUMAN	G	335;293	ENSP00000360252:D335G;ENSP00000378928:D293G	ENSP00000360252:D335G	D	+	2	0	HOOK1	60086649	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.730000	0.91510	2.263000	0.75096	0.377000	0.23210	GAC		0.363	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888	
LMOD1	25802	broad.mit.edu	37	1	201868999	201868999	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr1:201868999A>G	ENST00000367288.4	-	2	1388	c.1142T>C	c.(1141-1143)aTc>aCc	p.I381T	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	381					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTTGAGCATGATGGCAATGGC	0.567																																						.											0													119.0	121.0	120.0					1																	201868999		2183	4265	6448	SO:0001583	missense	25802			X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.1142T>C	1.37:g.201868999A>G	ENSP00000356257:p.Ile381Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	ENST00000367288.4	37	CCDS53457.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.545378	0.45280	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	D	0.91237	-2.81	4.47	4.47	0.54385	.	0.000000	0.40818	N	0.001006	T	0.79730	0.4496	L	0.29908	0.895	0.37645	D	0.922186	P;P	0.39094	0.47;0.659	B;B	0.32211	0.105;0.142	T	0.77024	-0.2741	10	0.15499	T	0.54	-28.3589	6.7159	0.23302	0.8923:0.0:0.1077:0.0	.	330;381	B4E3S9;P29536	.;LMOD1_HUMAN	T	381;381;330	ENSP00000356257:I381T	ENSP00000356257:I381T	I	-	2	0	LMOD1	200135622	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.114000	0.41911	1.626000	0.50381	0.491000	0.48974	ATC		0.567	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2		
EXOC8	149371	broad.mit.edu;mdanderson.org	37	1	231471905	231471905	+	Silent	SNP	G	G	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr1:231471905G>A	ENST00000360394.2	-	1	1673	c.1587C>T	c.(1585-1587)tgC>tgT	p.C529C	EXOC8_ENST00000366645.1_Silent_p.C525C|SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000391858.4_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	529					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CCAGTTGCTGGCAATGCTCCT	0.483																																						.											0													123.0	106.0	112.0					1																	231471905		2203	4300	6503	SO:0001819	synonymous_variant	149371			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1587C>T	1.37:g.231471905G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KU33|Q5TE82	Silent	SNP	ENST00000360394.2	37	CCDS1593.1																																																																																				0.483	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876	
MRPL49	740	broad.mit.edu;bcgsc.ca	37	11	64889873	64889873	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr11:64889873C>T	ENST00000279242.2	+	1	74	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	MRPL49_ENST00000526171.1_Missense_Mutation_p.R19W|FAU_ENST00000434372.2_5'Flank|FAU_ENST00000529259.1_5'Flank|MRPL49_ENST00000534078.1_Missense_Mutation_p.R19W|FAU_ENST00000531743.1_5'Flank|FAU_ENST00000279259.3_5'Flank|MRPL49_ENST00000531705.1_Missense_Mutation_p.R19W|FAU_ENST00000529639.1_5'UTR|MRPL49_ENST00000524482.1_Intron|FAU_ENST00000525297.1_5'Flank|FAU_ENST00000527548.1_5'Flank	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49	19					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						CGGTGTCCAGCGGGGCTGCGG	0.612																																						.											0													85.0	68.0	74.0					11																	64889873		2201	4297	6498	SO:0001583	missense	740				CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"""Mitochondrial ribosomal proteins / large subunits"""	1176	protein-coding gene	gene with protein product	"""neighbor of FAU"", ""next to FAU"""	606866	"""chromosome 11 open reading frame 4"""	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608	ENST00000279242.2:c.55C>T	11.37:g.64889873C>T	ENSP00000279242:p.Arg19Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B2R4G6	Missense_Mutation	SNP	ENST00000279242.2	37	CCDS8096.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.263|7.263	0.605513|0.605513	0.14002|0.14002	.|.	.|.	ENSG00000149792|ENSG00000149792	ENST00000533943|ENST00000534078;ENST00000526171;ENST00000279242;ENST00000531705	.|T;T;T;T	.|0.55760	.|0.5;0.85;0.91;0.88	4.69|4.69	1.76|1.76	0.24704|0.24704	.|.	.|0.798202	.|0.11169	.|N	.|0.592275	T|T	0.35624|0.35624	0.0938|0.0938	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.01281	.|0.0	T|T	0.23297|0.23297	-1.0192|-1.0192	5|10	.|0.44086	.|T	.|0.13	-6.5055|-6.5055	6.8572|6.8572	0.24048|0.24048	0.0:0.7067:0.0:0.2933|0.0:0.7067:0.0:0.2933	.|.	.|19	.|Q13405	.|RM49_HUMAN	V|W	16|19	.|ENSP00000434222:R19W;ENSP00000437177:R19W;ENSP00000279242:R19W;ENSP00000436740:R19W	.|ENSP00000279242:R19W	A|R	+|+	2|1	0|2	MRPL49|MRPL49	64646449|64646449	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.194000|0.194000	0.23727|0.23727	-0.182000|-0.182000	0.09726|0.09726	0.289000|0.289000	0.22422|0.22422	0.563000|0.563000	0.77884|0.77884	GCG|CGG		0.612	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927	
CACNA1C	775	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	2788865	2788865	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr12:2788865G>A	ENST00000347598.4	+	44	5491	c.5491G>A	c.(5491-5493)Ggc>Agc	p.G1831S	CACNA1C_ENST00000399606.1_Missense_Mutation_p.G1803S|CACNA1C_ENST00000399638.1_Missense_Mutation_p.G1811S|CACNA1C_ENST00000335762.5_Missense_Mutation_p.G1808S|CACNA1C_ENST00000399601.1_Missense_Mutation_p.G1783S|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399637.1_Missense_Mutation_p.G1802S|CACNA1C_ENST00000399644.1_Missense_Mutation_p.G1783S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.G1783S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.G1802S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.G1802S|CACNA1C_ENST00000399634.1_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399591.1_Missense_Mutation_p.G1791S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.G1789S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.G1824S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399655.1_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399595.1_Missense_Mutation_p.G1791S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.G1783S|CACNA1C_ENST00000327702.7_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399629.1_Missense_Mutation_p.G1800S	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1831					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCGCCCCGCCGGCTACCCCAG	0.677																																						.											0													41.0	49.0	46.0					12																	2788865		2054	4198	6252	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5491G>A	12.37:g.2788865G>A	ENSP00000266376:p.Gly1831Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	5.139	0.211285	0.09757	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95949	-3.8;-3.79;-3.79;-3.8;-3.79;-3.81;-3.7;-3.75;-3.79;-3.73;-3.72;-3.79;-3.85;-3.72;-3.63;-3.85;-3.8;-3.79;-3.78;-3.73;-3.78;-3.86	5.06	3.19	0.36642	.	2.241760	0.01598	N	0.021892	D	0.92051	0.7481	L	0.41573	1.285	0.26335	N	0.977457	B;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.50710	0.003;0.938;0.0;0.004;0.005;0.004;0.003;0.008;0.001;0.003;0.004;0.0;0.003;0.012;0.001;0.003;0.003;0.001;0.004;0.003;0.001;0.004;0.004;0.0;0.001	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.43225	0.002;0.412;0.001;0.003;0.01;0.005;0.002;0.01;0.001;0.002;0.006;0.001;0.003;0.01;0.001;0.004;0.003;0.005;0.006;0.004;0.001;0.007;0.007;0.001;0.002	T	0.82649	-0.0353	10	0.15952	T	0.53	.	3.0471	0.06157	0.1067:0.3219:0.4061:0.1652	.	474;1824;1780;1831;1783;1802;1783;1800;1811;1783;1803;1783;1743;1831;1783;1783;1783;1791;1789;1791;1772;1802;1802;1783;1783	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	S	1808;1783;1783;1811;1783;1802;1802;1791;1783;1831;1803;1783;1824;1800;1783;1789;1802;1783;1783;1783;1783;1791;1613	ENSP00000336982:G1808S;ENSP00000382563:G1783S;ENSP00000382552:G1783S;ENSP00000382547:G1811S;ENSP00000382506:G1783S;ENSP00000382530:G1802S;ENSP00000382546:G1802S;ENSP00000382500:G1791S;ENSP00000382549:G1783S;ENSP00000266376:G1831S;ENSP00000382515:G1803S;ENSP00000382510:G1783S;ENSP00000341092:G1824S;ENSP00000382537:G1800S;ENSP00000329877:G1783S;ENSP00000382557:G1789S;ENSP00000385724:G1802S;ENSP00000382512:G1783S;ENSP00000382542:G1783S;ENSP00000382526:G1783S;ENSP00000385896:G1783S;ENSP00000382504:G1791S	ENSP00000323129:G1613S	G	+	1	0	CACNA1C	2659126	0.981000	0.34729	0.048000	0.18961	0.022000	0.10575	2.143000	0.42187	0.506000	0.28125	0.305000	0.20034	GGC		0.677	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	
GRIN2B	2904	broad.mit.edu;bcgsc.ca	37	12	13906390	13906390	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr12:13906390C>T	ENST00000609686.1	-	3	1080	c.871G>A	c.(871-873)Gcc>Acc	p.A291T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	291					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTCACTCTGGCGGGGAGGCCA	0.537																																						.											0													98.0	87.0	91.0					12																	13906390		2203	4300	6503	SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.871G>A	12.37:g.13906390C>T	ENSP00000477455:p.Ala291Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974696	0.53720	.	.	ENSG00000150086	ENST00000279593	T	0.04970	3.52	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.07413	0.0187	L	0.39245	1.2	0.80722	D	1	P	0.35050	0.482	B	0.24701	0.055	T	0.31998	-0.9923	10	0.34782	T	0.22	.	20.1865	0.98220	0.0:1.0:0.0:0.0	.	291	Q13224	NMDE2_HUMAN	T	291	ENSP00000279593:A291T	ENSP00000279593:A291T	A	-	1	0	GRIN2B	13797657	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.627000	0.61276	2.775000	0.95449	0.655000	0.94253	GCC		0.537	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		
SMARCC2	6601	broad.mit.edu	37	12	56578007	56578007	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr12:56578007T>C	ENST00000267064.4	-	6	600	c.514A>G	c.(514-516)Aac>Gac	p.N172D	SMARCC2_ENST00000347471.4_Missense_Mutation_p.N172D|SMARCC2_ENST00000550164.1_Missense_Mutation_p.N172D|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000394023.3_Missense_Mutation_p.N172D	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	172					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GAGGCATTGTTCTTATCCTCA	0.493																																						.											0													115.0	92.0	100.0					12																	56578007		2203	4300	6503	SO:0001583	missense	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.514A>G	12.37:g.56578007T>C	ENSP00000267064:p.Asn172Asp	Somatic		WXS	Illumina HiSeq	Phase_I	F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.324727	0.41197	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.38	4.24	0.50183	BRCT (1);	0.717108	0.14170	N	0.336810	T	0.25494	0.0620	N	0.02011	-0.69	0.22066	N	0.999386	B;B;B;B;B	0.18310	0.016;0.027;0.016;0.016;0.027	B;B;B;B;B	0.17098	0.007;0.017;0.007;0.007;0.017	T	0.17623	-1.0363	10	0.21014	T	0.42	-3.7705	10.4059	0.44256	0.0:0.0781:0.0:0.9219	.	61;172;177;172;172	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	D	172	ENSP00000377591:N172D;ENSP00000449396:N172D;ENSP00000302919:N172D;ENSP00000267064:N172D	ENSP00000267064:N172D	N	-	1	0	SMARCC2	54864274	0.111000	0.22076	0.997000	0.53966	0.994000	0.84299	0.392000	0.20801	1.002000	0.39104	0.459000	0.35465	AAC		0.493	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1		
HYDIN	54768	broad.mit.edu	37	16	70884529	70884529	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr16:70884529T>C	ENST00000393567.2	-	74	12623	c.12473A>G	c.(12472-12474)aAg>aGg	p.K4158R	RNU6ATAC25P_ENST00000408798.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4158					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCCTTCCTGCTTTGGTGTGAA	0.408																																						.											0													75.0	64.0	67.0					16																	70884529		1855	4105	5960	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.12473A>G	16.37:g.70884529T>C	ENSP00000377197:p.Lys4158Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.592091	0.66219	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01051	5.4	5.56	5.56	0.83823	.	0.515744	0.14146	U	0.338329	T	0.02267	0.0070	L	0.52126	1.63	0.80722	D	1	B	0.30193	0.272	B	0.40199	0.322	T	0.62210	-0.6902	10	0.20519	T	0.43	.	11.053	0.47901	0.0:0.0:0.2775:0.7225	.	4157	F8WD23	.	R	4158;4157	ENSP00000377197:K4158R	ENSP00000313052:K4157R	K	-	2	0	HYDIN	69442030	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.665000	0.46791	2.113000	0.64589	0.418000	0.28097	AAG		0.408	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
EMC8	10328	broad.mit.edu	37	16	85822626	85822626	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr16:85822626C>T	ENST00000253457.3	-	2	506	c.262G>A	c.(262-264)Gtg>Atg	p.V88M	EMC8_ENST00000435200.2_Missense_Mutation_p.V88M|RP11-568J23.5_ENST00000602706.1_RNA	NM_006067.4	NP_006058.1	O43402	EMC8_HUMAN	ER membrane protein complex subunit 8	88						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											CCAGCAATCACGTAGCTATGA	0.438																																						.											0													192.0	151.0	165.0					16																	85822626		2198	4300	6498	SO:0001583	missense	10328			AF005888	CCDS10954.1, CCDS45541.1	16q24	2012-05-30	2012-05-30	2012-05-30	ENSG00000131148	ENSG00000131148			7864	protein-coding gene	gene with protein product	"""family with sequence similarity 158, member B"""	604886	"""chromosome 16 open reading frame 4"", ""neighbor of COX4"", ""chromosome 16 open reading frame 2"", ""COX4 neighbor"""	C16orf4, NOC4, C16orf2, COX4NB		10337626, 22119785	Standard	NM_006067		Approved	FAM158B	uc002fjd.3	O43402	OTTHUMG00000137647	ENST00000253457.3:c.262G>A	16.37:g.85822626C>T	ENSP00000253457:p.Val88Met	Somatic		WXS	Illumina HiSeq	Phase_I	C9JB21	Missense_Mutation	SNP	ENST00000253457.3	37	CCDS10954.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169822	0.78452	.	.	ENSG00000131148	ENST00000253457;ENST00000435200	T;T	0.46063	0.88;0.88	5.62	5.62	0.85841	.	0.114900	0.64402	D	0.000017	T	0.62036	0.2395	M	0.64567	1.98	0.58432	D	0.999997	D	0.76494	0.999	D	0.64237	0.923	T	0.59915	-0.7364	10	0.46703	T	0.11	-25.8182	19.6758	0.95932	0.0:1.0:0.0:0.0	.	88	O43402	CX4NB_HUMAN	M	88	ENSP00000253457:V88M;ENSP00000391730:V88M	ENSP00000253457:V88M	V	-	1	0	COX4NB	84380127	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.394000	0.52551	2.644000	0.89710	0.561000	0.74099	GTG		0.438	EMC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269099.1	NM_006067	
CDK12	51755	broad.mit.edu	37	17	37657501	37657501	+	Splice_Site	SNP	A	A	G			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr17:37657501A>G	ENST00000447079.4	+	6	2452		c.e6-1		CDK12_ENST00000430627.2_Splice_Site	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12						mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GTCTTTATGTAGGTGCCTTTT	0.353			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												.		Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													97.0	96.0	96.0					17																	37657501		2203	4300	6503	SO:0001630	splice_region_variant	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2420-1A>G	17.37:g.37657501A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A7E2B2|B4DYX4|B9EIQ6|O94978	Splice_Site	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	a	24.9	4.581417	0.86748	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2004	0.82067	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK12	34911027	1.000000	0.71417	0.966000	0.40874	0.957000	0.61999	9.206000	0.95056	2.233000	0.73108	0.529000	0.55759	.		0.353	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507	Intron
CDH2	1000	broad.mit.edu;mdanderson.org	37	18	25543442	25543442	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr18:25543442G>A	ENST00000269141.3	-	15	2816	c.2393C>T	c.(2392-2394)cCt>cTt	p.P798L	AC015933.2_ENST00000423367.1_RNA|CDH2_ENST00000399380.3_Missense_Mutation_p.P767L	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	798					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GATGGCATCAGGCTCCACAGT	0.532																																						.											0													84.0	68.0	73.0					18																	25543442		2203	4300	6503	SO:0001583	missense	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.2393C>T	18.37:g.25543442G>A	ENSP00000269141:p.Pro798Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	33	5.283649	0.95489	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.61158	0.17;0.13	6.16	6.16	0.99307	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.67942	0.2947	L	0.28694	0.88	0.80722	D	1	P;D	0.71674	0.866;0.998	P;D	0.69142	0.735;0.962	T	0.65631	-0.6121	10	0.48119	T	0.1	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	767;798	A8MWK3;P19022	.;CADH2_HUMAN	L	798;767	ENSP00000269141:P798L;ENSP00000382312:P767L	ENSP00000269141:P798L	P	-	2	0	CDH2	23797440	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.163000	0.71880	2.937000	0.99478	0.650000	0.86243	CCT		0.532	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792	
LSM14A	26065	broad.mit.edu	37	19	34710315	34710315	+	Silent	SNP	T	T	G	rs201741862		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:34710315T>G	ENST00000433627.5	+	7	876	c.801T>G	c.(799-801)gcT>gcG	p.A267A	LSM14A_ENST00000540746.2_Silent_p.A226A|LSM14A_ENST00000544216.3_Silent_p.A267A	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	267					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.A267A(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CTCCTTCAGCTCCAAGGAGAG	0.438																																						.											2	Substitution - coding silent(2)	endometrium(1)|kidney(1)											64.0	74.0	71.0					19																	34710315		2203	4300	6503	SO:0001819	synonymous_variant	26065			AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.801T>G	19.37:g.34710315T>G		Somatic		WXS	Illumina HiSeq	Phase_I	B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Silent	SNP	ENST00000433627.5	37	CCDS46040.1																																																																																				0.438	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578	
ACTL10	170487	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	32255643	32255643	+	Missense_Mutation	SNP	G	G	C	rs144190881	byFrequency	TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr20:32255643G>C	ENST00000330271.4	+	1	1340	c.340G>C	c.(340-342)Gtc>Ctc	p.V114L	NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron	NM_001024675.1	NP_001019846.1	Q5JWF8	ACL10_HUMAN	actin-like 10	114																	CGGGTGCTGCGTCTGCCTCAG	0.706																																						.											0													16.0	17.0	17.0					20																	32255643		2199	4290	6489	SO:0001583	missense	170487			AL121906	CCDS33463.1	20q11.22	2011-11-24	2011-11-24	2011-11-24	ENSG00000182584	ENSG00000182584			16127	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 134"""	C20orf134			Standard	NM_001024675		Approved		uc002wzt.3	Q5JWF8	OTTHUMG00000032262	ENST00000330271.4:c.340G>C	20.37:g.32255643G>C	ENSP00000329647:p.Val114Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B9EH76	Missense_Mutation	SNP	ENST00000330271.4	37	CCDS33463.1	.	.	.	.	.	.	.	.	.	.	G	9.743	1.165517	0.21538	.	.	ENSG00000182584	ENST00000330271	T	0.06528	3.29	5.42	-1.13	0.09775	.	0.822137	0.10138	N	0.711191	T	0.04407	0.0121	L	0.31207	0.915	0.19775	N	0.99996	B	0.11235	0.004	B	0.17979	0.02	T	0.44081	-0.9351	10	0.87932	D	0	-6.4887	1.4132	0.02295	0.3262:0.2569:0.2981:0.1189	.	114	Q5JWF8	CT134_HUMAN	L	114	ENSP00000329647:V114L	ENSP00000329647:V114L	V	+	1	0	C20orf134	31719304	0.766000	0.28496	0.000000	0.03702	0.009000	0.06853	1.458000	0.35223	-0.441000	0.07201	-0.367000	0.07326	GTC		0.706	ACTL10-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078713.1		
MAP1LC3A	84557	broad.mit.edu	37	20	33147658	33147658	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr20:33147658T>C	ENST00000360668.3	+	4	1083	c.322T>C	c.(322-324)Ttc>Ctc	p.F108L	MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.F108L|MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.F112L			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	108					autophagic vacuole assembly (GO:0000045)|mitochondrion degradation (GO:0000422)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|late endosome (GO:0005770)|microtubule (GO:0005874)|organelle membrane (GO:0031090)	phosphatidylethanolamine binding (GO:0008429)|phospholipid binding (GO:0005543)			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						CGAGGACGGCTTCCTCTATAT	0.647																																						.											0													45.0	48.0	47.0					20																	33147658		2203	4300	6503	SO:0001583	missense	84557				CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460			6838	protein-coding gene	gene with protein product		601242				8833088, 17580304	Standard	NM_032514		Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306	ENST00000360668.3:c.322T>C	20.37:g.33147658T>C	ENSP00000353886:p.Phe108Leu	Somatic		WXS	Illumina HiSeq	Phase_I	E1P5P4|E1P5P5|Q9BXW5	Missense_Mutation	SNP	ENST00000360668.3	37	CCDS13238.1	.	.	.	.	.	.	.	.	.	.	T	35	5.472232	0.96274	.	.	ENSG00000101460	ENST00000374837;ENST00000360668;ENST00000397709	T;T;T	0.58652	0.32;0.32;0.32	5.57	5.57	0.84162	.	0.043530	0.85682	D	0.000000	T	0.76364	0.3977	M	0.85630	2.765	0.80722	D	1	P;B	0.42620	0.785;0.057	P;B	0.56823	0.807;0.047	T	0.79974	-0.1577	10	0.72032	D	0.01	-4.7506	15.3706	0.74560	0.0:0.0:0.0:1.0	.	108;112	Q9H492;Q9H492-2	MLP3A_HUMAN;.	L	112;108;108	ENSP00000363970:F112L;ENSP00000353886:F108L;ENSP00000380821:F108L	ENSP00000353886:F108L	F	+	1	0	MAP1LC3A	32611319	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.967000	0.87967	2.115000	0.64714	0.260000	0.18958	TTC		0.647	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078801.2	NM_181509	
FXR1	8087	broad.mit.edu	37	3	180666228	180666228	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr3:180666228delA	ENST00000357559.4	+	5	748	c.364delA	c.(364-366)aaafs	p.K123fs	FXR1_ENST00000468861.1_Frame_Shift_Del_p.K38fs|FXR1_ENST00000305586.7_Frame_Shift_Del_p.K38fs|FXR1_ENST00000491062.1_Frame_Shift_Del_p.K74fs|FXR1_ENST00000480918.1_Frame_Shift_Del_p.K110fs|FXR1_ENST00000445140.2_Frame_Shift_Del_p.K123fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	123					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.N124fs*14(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TAAAACTGTCAAAAAAAATAC	0.333																																						.											1	Deletion - Frameshift(1)	large_intestine(1)											55.0	58.0	57.0					3																	180666228		2202	4298	6500	SO:0001589	frameshift_variant	8087			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.364delA	3.37:g.180666228delA	ENSP00000350170:p.Lys123fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9B8|Q7Z450|Q8N6R8	Frame_Shift_Del	DEL	ENST00000357559.4	37	CCDS3238.1																																																																																				0.333	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5		
BEND6	221336	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	56846621	56846621	+	Missense_Mutation	SNP	G	G	A	rs199964177	byFrequency	TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr6:56846621G>A	ENST00000370746.3	+	2	282	c.13G>A	c.(13-15)Gtg>Atg	p.V5M	BEND6_ENST00000370748.3_Missense_Mutation_p.V5M|BEND6_ENST00000370750.2_Missense_Mutation_p.V5M|BEND6_ENST00000370745.1_Missense_Mutation_p.V5M	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	5					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						GCAGAAGATCGTGCAGACAGA	0.368													T|||	3	0.000599042	0.0	0.0	5008	,	,		16669	0.0		0.003	False		,,,				2504	0.0					.											0								T	MET/VAL	1,3705		0,1,1852	142.0	139.0	140.0		13	3.9	1.0	6		140	5,8171		0,5,4083	yes	missense	BEND6	NM_152731.2	21	0,6,5935	AA,AG,GG		0.0612,0.027,0.0505	benign	5/280	56846621	6,11876	1853	4088	5941	SO:0001583	missense	221336			AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.13G>A	6.37:g.56846621G>A	ENSP00000359782:p.Val5Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	ENST00000370746.3	37	CCDS43476.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	19.58	3.854945	0.71719	2.7E-4	6.12E-4	ENSG00000151917	ENST00000322055;ENST00000370750;ENST00000370748;ENST00000370746;ENST00000370745	.	.	.	5.04	3.87	0.44632	.	0.780519	0.11165	N	0.592652	T	0.14787	0.0357	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.10753	-1.0616	9	0.66056	D	0.02	0.6866	5.0573	0.14539	0.0:0.1493:0.165:0.6857	.	5	Q5SZJ8	BEND6_HUMAN	M	5	.	ENSP00000322773:V5M	V	+	1	0	BEND6	56954580	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	1.487000	0.35540	0.869000	0.35703	-0.264000	0.10439	GTG		0.368	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731	
NT5DC1	221294	broad.mit.edu	37	6	116560197	116560197	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr6:116560197A>G	ENST00000319550.4	+	11	1245	c.1163A>G	c.(1162-1164)aAt>aGt	p.N388S		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	388							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		GGACTGGAAAATACAGAAGAC	0.363																																					Colon(128;1440 1664 38087 41475 42869)	.											0													88.0	94.0	92.0					6																	116560197		2203	4300	6503	SO:0001583	missense	221294			BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic II-like 1"""	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.1163A>G	6.37:g.116560197A>G	ENSP00000326858:p.Asn388Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B2RND9|B3KR35|Q6XYD5	Missense_Mutation	SNP	ENST00000319550.4	37	CCDS5104.1	.	.	.	.	.	.	.	.	.	.	A	8.876	0.950369	0.18431	.	.	ENSG00000178425	ENST00000319550	T	0.21361	2.01	5.05	2.56	0.30785	HAD-like domain (1);	0.552002	0.21299	N	0.076821	T	0.06371	0.0164	L	0.55103	1.725	0.28488	N	0.914632	B;B;B	0.15473	0.013;0.003;0.003	B;B;B	0.12156	0.007;0.003;0.003	T	0.33727	-0.9857	10	0.30078	T	0.28	-11.7868	5.3704	0.16136	0.6976:0.1474:0.1549:0.0	.	338;388;388	B3KR35;A8K2Z3;Q5TFE4	.;.;NT5D1_HUMAN	S	388	ENSP00000326858:N388S	ENSP00000326858:N388S	N	+	2	0	NT5DC1	116666890	0.985000	0.35326	0.306000	0.25113	0.675000	0.39556	1.437000	0.34991	0.332000	0.23536	0.533000	0.62120	AAT		0.363	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3	NM_152729	
SNX31	169166	broad.mit.edu	37	8	101661717	101661717	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr8:101661717A>G	ENST00000311812.2	-	1	176	c.26T>C	c.(25-27)gTg>gCg	p.V9A		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	9	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CTGCTGGGACACCGGGATACA	0.692																																						.											0													11.0	14.0	13.0					8																	101661717		2094	4210	6304	SO:0001583	missense	169166				CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.26T>C	8.37:g.101661717A>G	ENSP00000312368:p.Val9Ala	Somatic		WXS	Illumina HiSeq	Phase_I	C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	A	18.00	3.526544	0.64860	.	.	ENSG00000174226	ENST00000311812	T	0.34859	1.34	4.5	3.29	0.37713	Phox homologous domain (4);	0.000000	0.53938	D	0.000051	T	0.42765	0.1217	L	0.57536	1.79	0.80722	D	1	D	0.61080	0.989	P	0.54815	0.761	T	0.17776	-1.0358	10	0.24483	T	0.36	-14.316	8.7769	0.34767	0.8085:0.1915:0.0:0.0	.	9	Q8N9S9	SNX31_HUMAN	A	9	ENSP00000312368:V9A	ENSP00000312368:V9A	V	-	2	0	SNX31	101730893	0.985000	0.35326	1.000000	0.80357	0.984000	0.73092	2.194000	0.42668	0.554000	0.29061	0.379000	0.24179	GTG		0.692	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628	
NHS	4810	broad.mit.edu	37	X	17745123	17745123	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chrX:17745123C>A	ENST00000380060.3	+	6	3172	c.2834C>A	c.(2833-2835)tCa>tAa	p.S945*	NHS_ENST00000398097.3_Nonsense_Mutation_p.S789*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	966					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CTATCTAATTCAAGCACCGCT	0.438																																						.											0													108.0	104.0	105.0					X																	17745123		2203	4300	6503	SO:0001587	stop_gained	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2834C>A	X.37:g.17745123C>A	ENSP00000369400:p.Ser945*	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Nonsense_Mutation	SNP	ENST00000380060.3	37	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	43	10.066554	0.99329	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	.	.	.	5.93	5.93	0.95920	.	0.055012	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5647	19.2927	0.94108	0.0:1.0:0.0:0.0	.	.	.	.	X	945;789;787	.	ENSP00000369397:S787X	S	+	2	0	NHS	17655044	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.818000	0.86416	2.509000	0.84616	0.538000	0.68166	TCA		0.438	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270	
ITIH6	347365	broad.mit.edu;mdanderson.org;bcgsc.ca	37	X	54784436	54784436	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chrX:54784436C>T	ENST00000218436.6	-	8	2100	c.2071G>A	c.(2071-2073)Gga>Aga	p.G691R		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	691					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GGGCTCTCTCCCAATGGCTCC	0.498																																						.											0													144.0	119.0	128.0					X																	54784436		2203	4300	6503	SO:0001583	missense	347365			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2071G>A	X.37:g.54784436C>T	ENSP00000218436:p.Gly691Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	0.413	-0.912511	0.02415	.	.	ENSG00000102313	ENST00000218436	T	0.02323	4.34	3.95	0.289	0.15723	.	2.233900	0.03836	U	0.269889	T	0.01835	0.0058	N	0.14661	0.345	0.09310	N	1	B	0.18310	0.027	B	0.13407	0.009	T	0.45920	-0.9228	10	0.14252	T	0.57	.	1.3401	0.02153	0.3194:0.379:0.1662:0.1354	.	691	Q6UXX5	ITH5L_HUMAN	R	691	ENSP00000218436:G691R	ENSP00000218436:G691R	G	-	1	0	ITIH5L	54801161	0.000000	0.05858	0.027000	0.17364	0.014000	0.08584	-0.070000	0.11523	0.434000	0.26340	0.597000	0.82753	GGA		0.498	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510	
SIPA1L3	23094	broad.mit.edu	37	19	38655328	38655329	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:38655328_38655329insC	ENST00000222345.6	+	15	4499_4500	c.3990_3991insC	c.(3991-3993)cccfs	p.P1331fs		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1331					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.P1331S(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGGCTCCACGGCCCGCCAAGCC	0.673																																						.											1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3993dupC	19.37:g.38655331_38655331dupC	ENSP00000222345:p.Pro1331fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q2TV87	Frame_Shift_Ins	INS	ENST00000222345.6	37	CCDS33007.1																																																																																				0.673	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278	
BTBD16	118663	ucsc.edu	37	10	124090744	124090744	+	Missense_Mutation	SNP	G	G	C	rs201203665		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr10:124090744G>C	ENST00000260723.4	+	12	1308	c.1057G>C	c.(1057-1059)Gac>Cac	p.D353H	BTBD16_ENST00000368994.2_Missense_Mutation_p.D354H	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	353										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				GTCATGGCTCGACCAGGTTAC	0.468																																						.											0													102.0	92.0	96.0					10																	124090744		2203	4300	6503	SO:0001583	missense	118663			AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.1057G>C	10.37:g.124090744G>C	ENSP00000260723:p.Asp353His	Somatic		WXS	Illumina HiSeq	Phase_I	A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.438838	0.01098	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.16597	2.33;2.33	5.98	-11.7	0.00046	.	1.720820	0.02817	N	0.125135	T	0.05135	0.0137	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19321	-1.0309	10	0.15066	T	0.55	-2.0894	10.4818	0.44698	0.5555:0.2319:0.2126:0.0	.	354;353	Q32M84-2;Q32M84	.;BTBDG_HUMAN	H	353;354	ENSP00000260723:D353H;ENSP00000357990:D354H	ENSP00000260723:D353H	D	+	1	0	BTBD16	124080734	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.195000	0.03043	-3.375000	0.00176	-2.827000	0.00107	GAC		0.468	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587	
CSAD	51380	ucsc.edu	37	12	53565216	53565216	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr12:53565216A>G	ENST00000444623.1	-	8	728	c.461T>C	c.(460-462)aTc>aCc	p.I154T	CSAD_ENST00000267085.4_Missense_Mutation_p.I181T|CSAD_ENST00000379843.3_Intron|CSAD_ENST00000542115.1_3'UTR|CSAD_ENST00000379846.1_Intron|CSAD_ENST00000491654.1_5'Flank|CSAD_ENST00000453446.2_Missense_Mutation_p.I154T	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	154					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	CATGTTGGAGATGGAGCCACC	0.597																																					Ovarian(109;252 1546 16882 28524 44645)	.											0													45.0	43.0	44.0					12																	53565216		2203	4300	6503	SO:0001583	missense	51380			AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.461T>C	12.37:g.53565216A>G	ENSP00000415485:p.Ile154Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	37	CCDS58235.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.108478	0.77096	.	.	ENSG00000139631	ENST00000308926;ENST00000267085;ENST00000544139;ENST00000444623;ENST00000453446;ENST00000454442;ENST00000437073	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.36	5.36	0.76844	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.260572	0.43260	D	0.000582	T	0.39989	0.1099	L	0.28740	0.885	0.80722	D	1	B;B	0.27971	0.163;0.196	B;B	0.39771	0.309;0.296	T	0.27773	-1.0064	10	0.33141	T	0.24	-19.1094	14.6573	0.68844	1.0:0.0:0.0:0.0	.	181;154	Q9Y600-3;Q9Y600	.;CSAD_HUMAN	T	243;181;154;154;154;48;154	ENSP00000267085:I181T;ENSP00000415485:I154T;ENSP00000410648:I154T;ENSP00000415314:I154T	ENSP00000267085:I181T	I	-	2	0	CSAD	51851483	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.657000	0.67996	2.166000	0.68216	0.533000	0.62120	ATC		0.597	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989	
NOC4L	79050	ucsc.edu	37	12	132632437	132632437	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr12:132632437T>C	ENST00000330579.1	+	6	657	c.616T>C	c.(616-618)Ttt>Ctt	p.F206L	NOC4L_ENST00000535343.1_3'UTR|NOC4L_ENST00000538784.1_5'Flank	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	206					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		GCCCCCCGCCTTTTGGAACAA	0.682																																						.											0													27.0	30.0	29.0					12																	132632437		2188	4296	6484	SO:0001583	missense	79050				CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.616T>C	12.37:g.132632437T>C	ENSP00000328854:p.Phe206Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N2S5|Q96I14	Missense_Mutation	SNP	ENST00000330579.1	37	CCDS9277.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.500413	0.26861	.	.	ENSG00000184967	ENST00000330579;ENST00000541954	T;T	0.63580	-0.05;1.51	5.1	3.9	0.45041	Armadillo-like helical (1);	0.170682	0.51477	N	0.000091	T	0.42787	0.1218	L	0.33485	1.01	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22626	-1.0211	10	0.05721	T	0.95	-28.2025	7.9495	0.30006	0.0:0.0957:0.0:0.9043	.	206	Q9BVI4	NOC4L_HUMAN	L	206;173	ENSP00000328854:F206L;ENSP00000438255:F173L	ENSP00000328854:F206L	F	+	1	0	NOC4L	131198390	0.988000	0.35896	0.481000	0.27354	0.018000	0.09664	2.192000	0.42649	0.731000	0.32448	0.496000	0.49642	TTT		0.682	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078	
SLC25A29	123096	ucsc.edu;mdanderson.org	37	14	100758955	100758955	+	Silent	SNP	G	G	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr14:100758955G>A	ENST00000359232.3	-	4	877	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L	RP11-638I2.6_ENST00000556458.1_lincRNA|SLC25A29_ENST00000555927.1_Silent_p.L127L|SLC25A29_ENST00000539621.1_Silent_p.L127L|AL157871.2_ENST00000553954.1_RNA|SLC25A29_ENST00000554912.1_Silent_p.L127L|SLC25A29_ENST00000392908.3_3'UTR|SLC25A29_ENST00000556505.1_Silent_p.L127L	NM_001039355.1	NP_001034444.1	Q8N8R3	MCATL_HUMAN	solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29	193						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	acyl carnitine transmembrane transporter activity (GO:0015227)			NS(1)|endometrium(1)|ovary(1)	3		Melanoma(154;0.152)			L-Carnitine(DB00583)	CCCGCCAACAGCAGCTTGGGC	0.692																																						.											0													26.0	18.0	21.0					14																	100758955		2186	4284	6470	SO:0001819	synonymous_variant	123096			AK095532	CCDS32156.1	14q32.2	2013-05-22	2012-03-29	2004-01-21	ENSG00000197119	ENSG00000197119		"""Solute carriers"""	20116	protein-coding gene	gene with protein product		615064	"""chromosome 14 open reading frame 69"", ""solute carrier family 25, member 29"""	C14orf69			Standard	XM_005267343		Approved	FLJ38975	uc010twx.2	Q8N8R3	OTTHUMG00000171569	ENST00000359232.3:c.577C>T	14.37:g.100758955G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A3KMR5|Q541V0	Silent	SNP	ENST00000359232.3	37	CCDS32156.1																																																																																				0.692	SLC25A29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072449.3		
SLC3A1	6519	ucsc.edu	37	2	44528268	44528268	+	Splice_Site	SNP	T	T	G	rs556841667|rs61179824	byFrequency	TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr2:44528268T>G	ENST00000260649.6	+	6	1212		c.e6+2		SLC3A1_ENST00000409229.3_Splice_Site|SLC3A1_ENST00000409740.3_5'Flank|SLC3A1_ENST00000409741.1_Splice_Site|SLC3A1_ENST00000409294.1_Intron|SLC3A1_ENST00000410056.3_Missense_Mutation_p.L380V|SLC3A1_ENST00000409380.1_Splice_Site|SLC3A1_ENST00000409387.1_Splice_Site	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1						amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CAGATACAGGTTGACCACGGC	0.507																																						.											0			GRCh37	CS013629	SLC3A1	S	rs146125507						78.0	75.0	76.0					2																	44528268		2170	4288	6458	SO:0001630	splice_region_variant	6519				CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.1136+2T>G	2.37:g.44528268T>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Splice_Site	SNP	ENST00000260649.6	37	CCDS1819.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	1.259|1.259	-0.616384|-0.616384	0.03663|0.03663	.|.	.|.	ENSG00000138079|ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000409741;ENST00000409229;ENST00000541289;ENST00000409380|ENST00000410056	.|D	.|0.99176	.|-5.52	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.96204	.|0.8762	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B	.|0.14438	.|0.01	.|B	.|0.21151	.|0.033	.|D	.|0.90530	.|0.4495	.|5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|380	.|Q4J6B8	.|.	.|V	-1|380	.|ENSP00000387337:L380V	.|.	.|L	+|+	.|1	.|2	SLC3A1|SLC3A1	44381772|44381772	0.999000|0.999000	0.42202|0.42202	0.922000|0.922000	0.36590|0.36590	0.142000|0.142000	0.21351|0.21351	0.000000|0.000000	0.12993|0.12993	0.000000|0.000000	0.14550|0.14550	0.000000|0.000000	0.15137|0.15137	.|TTG		0.507	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341	Intron
ANKRD20A5P	440482	mdanderson.org	37	18	14183978	14183978	+	RNA	SNP	T	T	C	rs77403707	byFrequency	TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr18:14183978T>C	ENST00000581935.1	+	0	667							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						TGGAACATGGTGCCAATCCAA	0.448																																						.											0													93.0	93.0	93.0					18																	14183978		2201	4296	6497			440482			BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14183978T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q4G1B6	RNA	SNP	ENST00000581935.1	37																																																																																					0.448	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1		
TCF4	6925	ucsc.edu;mdanderson.org;bcgsc.ca	37	18	52937134	52937134	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr18:52937134G>A	ENST00000356073.4	-	11	1461	c.850C>T	c.(850-852)Cat>Tat	p.H284Y	TCF4_ENST00000564999.1_Missense_Mutation_p.H284Y|TCF4_ENST00000564403.2_Missense_Mutation_p.H290Y|TCF4_ENST00000567880.1_Missense_Mutation_p.H224Y|TCF4_ENST00000537856.3_Missense_Mutation_p.H154Y|TCF4_ENST00000561992.1_Missense_Mutation_p.H154Y|TCF4_ENST00000540999.1_Missense_Mutation_p.H260Y|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000544241.2_Missense_Mutation_p.H213Y|TCF4_ENST00000537578.1_Missense_Mutation_p.H260Y|TCF4_ENST00000457482.3_Missense_Mutation_p.H124Y|TCF4_ENST00000568673.1_Missense_Mutation_p.H260Y|TCF4_ENST00000570177.2_Missense_Mutation_p.H154Y|TCF4_ENST00000398339.1_Missense_Mutation_p.H386Y|TCF4_ENST00000568740.1_Missense_Mutation_p.H259Y|TCF4_ENST00000564228.1_Missense_Mutation_p.H213Y|TCF4_ENST00000543082.1_Missense_Mutation_p.H242Y|TCF4_ENST00000570287.2_Missense_Mutation_p.H124Y|TCF4_ENST00000561831.3_Missense_Mutation_p.H124Y|TCF4_ENST00000565018.2_Missense_Mutation_p.H284Y|TCF4_ENST00000566286.1_Missense_Mutation_p.H282Y|TCF4_ENST00000566279.1_Missense_Mutation_p.H224Y|TCF4_ENST00000354452.3_Missense_Mutation_p.H284Y	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	284					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CCACTACGATGGAAAGTGGAC	0.453																																						.											0													185.0	155.0	165.0					18																	52937134		2203	4300	6503	SO:0001583	missense	6925			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.850C>T	18.37:g.52937134G>A	ENSP00000348374:p.His284Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011236	0.75046	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.8	5.8	0.92144	.	0.146061	0.64402	D	0.000009	T	0.47040	0.1424	L	0.55481	1.735	0.80722	D	1	B;P;B;B;B;B;B;B;B;B	0.42375	0.052;0.778;0.188;0.007;0.209;0.344;0.112;0.052;0.007;0.2	B;B;B;B;B;B;B;B;B;B	0.42827	0.056;0.399;0.1;0.017;0.084;0.053;0.038;0.038;0.009;0.069	T	0.47018	-0.9149	10	0.62326	D	0.03	-7.2002	18.8159	0.92076	0.0:0.0:1.0:0.0	.	260;284;260;124;386;284;242;213;124;282	B7Z5M6;G0LNT9;B7Z6Y1;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;.;ITF2_HUMAN;.;.;.;.	Y	284;124;284;242;260;260;213;154;386	ENSP00000346440:H284Y;ENSP00000409447:H124Y;ENSP00000348374:H284Y;ENSP00000439656:H242Y;ENSP00000445202:H260Y;ENSP00000440731:H260Y;ENSP00000441562:H213Y;ENSP00000439827:H154Y;ENSP00000381382:H386Y	ENSP00000346440:H284Y	H	-	1	0	TCF4	51088132	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.998000	0.93550	2.734000	0.93682	0.460000	0.39030	CAT		0.453	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199	
ASCC2	84164	mdanderson.org	37	22	30197985	30197985	+	Silent	SNP	G	G	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr22:30197985G>A	ENST00000397771.2	-	15	1743	c.1566C>T	c.(1564-1566)gaC>gaT	p.D522D	ASCC2_ENST00000542393.1_Silent_p.D446D|ASCC2_ENST00000307790.3_Silent_p.D522D			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	522					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TCTCCCACCTGTCTAGGTTGC	0.642																																						.											0													25.0	21.0	23.0					22																	30197985		2203	4298	6501	SO:0001819	synonymous_variant	84164			AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1566C>T	22.37:g.30197985G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Silent	SNP	ENST00000397771.2	37	CCDS13869.1																																																																																				0.642	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204	
CSPG4	1464	mdanderson.org	37	15	75981944	75981944	+	Missense_Mutation	SNP	C	C	T	rs72732868	byFrequency	TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr15:75981944C>T	ENST00000308508.5	-	3	1554	c.1462G>A	c.(1462-1464)Gcc>Acc	p.A488T		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	488	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CGTGCCTGGGCTCCCGGGATG	0.637													C|||	30	0.00599042	0.0023	0.0043	5008	,	,		21686	0.0119		0.004	False		,,,				2504	0.0082					.											0													59.0	55.0	57.0					15																	75981944		2197	4292	6489	SO:0001583	missense	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1462G>A	15.37:g.75981944C>T	ENSP00000312506:p.Ala488Thr	Somatic		WXS	Illumina HiSeq	Phase_I	D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	7.683	0.689502	0.14973	.	.	ENSG00000173546	ENST00000308508	T	0.19669	2.13	5.12	5.12	0.69794	.	0.093684	0.44902	D	0.000419	T	0.17323	0.0416	L	0.49350	1.555	0.40778	D	0.983141	P	0.38020	0.615	B	0.33196	0.159	T	0.04961	-1.0915	10	0.11794	T	0.64	.	13.061	0.59008	0.1615:0.8385:0.0:0.0	.	488	Q6UVK1	CSPG4_HUMAN	T	488	ENSP00000312506:A488T	ENSP00000312506:A488T	A	-	1	0	CSPG4	73768999	0.998000	0.40836	0.608000	0.28969	0.011000	0.07611	3.620000	0.54203	2.375000	0.81037	0.555000	0.69702	GCC		0.637	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897	
FAM86B1	85002	mdanderson.org	37	8	12043930	12043930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr8:12043930G>A	ENST00000448228.2	-	5	620	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	FAM86B1_ENST00000534520.1_Intron|FAM86B1_ENST00000321602.8_Intron|FAM86B1_ENST00000533852.2_Nonsense_Mutation_p.Q225*	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	191										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		CAGTCCAGCTGGGCCACTGTC	0.592																																						.											0													7.0	8.0	8.0					8																	12043930		1221	2229	3450	SO:0001587	stop_gained	85002			BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.571C>T	8.37:g.12043930G>A	ENSP00000407067:p.Gln191*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000448228.2	37	CCDS59512.1	.	.	.	.	.	.	.	.	.	.	-	16.62	3.173813	0.57692	.	.	ENSG00000186523	ENST00000431227;ENST00000448228;ENST00000526708	.	.	.	1.17	0.238	0.15480	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	2.6938	0.05128	0.2202:0.3077:0.4722:0.0	.	.	.	.	X	225;191;225	.	ENSP00000444227:Q225X	Q	-	1	0	FAM86B1	12081339	1.000000	0.71417	0.887000	0.34795	0.409000	0.31022	1.640000	0.37186	0.068000	0.16574	0.173000	0.16961	CAG		0.592	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383317.1	NM_032916	
GOLGA6L6	727832	mdanderson.org	37	15	20739883	20739883	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr15:20739883C>T	ENST00000427390.2	-	8	1957	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	623	Gln-rich.|Glu-rich.									NS(3)|endometrium(4)|kidney(1)|skin(3)	11						tcctcctgctcctgtatcttc	0.547																																						.											0													10.0	4.0	6.0					15																	20739883		603	1325	1928	SO:0001583	missense	727832			AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.1867G>A	15.37:g.20739883C>T	ENSP00000398615:p.Glu623Lys	Somatic		WXS	Illumina HiSeq	Phase_I	D3YTC0	Missense_Mutation	SNP	ENST00000427390.2	37	CCDS45184.1	.	.	.	.	.	.	.	.	.	.	c	1.932	-0.445773	0.04604	.	.	ENSG00000215405	ENST00000427390	T	0.09445	2.98	.	.	.	.	.	.	.	.	T	0.04318	0.0119	N	0.12961	0.28	0.09310	N	1	P	0.36354	0.549	B	0.28139	0.086	T	0.42361	-0.9456	8	0.15499	T	0.54	.	5.9503	0.19242	0.0:0.9994:0.0:6.0E-4	.	623	A8MZA4	GG6L6_HUMAN	K	623	ENSP00000398615:E623K	ENSP00000398615:E623K	E	-	1	0	GOLGA6L6	18999897	0.001000	0.12720	0.003000	0.11579	0.003000	0.03518	-0.173000	0.09854	0.159000	0.19401	0.162000	0.16502	GAG		0.547	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414660.3	NM_001145004	
NBPF14	25832	mdanderson.org	37	1	148004714	148004714	+	Missense_Mutation	SNP	G	G	A	rs201202391	byFrequency	TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr1:148004714G>A	ENST00000369219.1	-	22	2616	c.2600C>T	c.(2599-2601)tCa>tTa	p.S867L				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	867	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.S867L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AAAGTACATTGACGGAGTCGA	0.438																																						.											1	Substitution - Missense(1)	NS(1)						G	LEU/SER	54,4198		0,54,2072	132.0	199.0	177.0		2600	0.4	0.0	1		177	41,8481		0,41,4220	no	missense	NBPF14	NM_015383.1	145	0,95,6292	AA,AG,GG		0.4811,1.27,0.7437	probably-damaging	867/922	148004714	95,12679	2126	4261	6387	SO:0001583	missense	25832			AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2600C>T	1.37:g.148004714G>A	ENSP00000358221:p.Ser867Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	10.88|10.88	1.475385|1.475385	0.26511|0.26511	0.0127|0.0127	0.004811|0.004811	ENSG00000122497|ENSG00000122497	ENST00000310701|ENST00000369219;ENST00000369368	.|T	.|0.10477	.|2.87	0.445|0.445	0.445|0.445	0.16597|0.16597	.|DUF1220 (2);	.|.	.|.	.|.	.|.	.|T	.|0.15132	.|0.0365	M|M	0.73372|0.73372	2.23|2.23	0.09310|0.09310	N|N	1|1	.|D;P;D	.|0.71674	.|0.991;0.885;0.998	.|D;P;D	.|0.76575	.|0.988;0.771;0.981	.|T	.|0.04078	.|-1.0979	.|8	.|0.87932	.|D	.|0	.|.	.|.	.|.	.|.	.|.	.|215;848;867	.|F8WEX8;B4DH59;Q5TI25	.|.;.;NBPFE_HUMAN	X|L	873|867;215	.|ENSP00000358221:S867L	.|ENSP00000358221:S867L	Q|S	-|-	1|2	0|0	NBPF14|NBPF14	146471338|146471338	0.020000|0.020000	0.18652|0.18652	0.001000|0.001000	0.08648|0.08648	0.009000|0.009000	0.06853|0.06853	0.775000|0.775000	0.26689|0.26689	0.537000|0.537000	0.28751|0.28751	0.372000|0.372000	0.22366|0.22366	CAA|TCA		0.438	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383	
POM121	9883	mdanderson.org	37	7	72420001	72420001	+	3'UTR	SNP	C	C	T	rs563978713		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr7:72420001C>T	ENST00000395270.1	+	0	5033				NSUN5P2_ENST00000388955.4_RNA	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.R78K(2)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TGCCAGCCGCCTGGCATCCAG	0.637																																						.											2	Substitution - Missense(2)	endometrium(2)											30.0	33.0	32.0					7																	72420001		2198	4299	6497	SO:0001624	3_prime_UTR_variant	260294			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000395270.1:c.*992C>T	7.37:g.72420001C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	RNA	SNP	ENST00000395270.1	37	CCDS59059.1																																																																																				0.637	POM121-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252020.1		
PDE4DIP	9659	mdanderson.org	37	1	144856817	144856817	+	Splice_Site	SNP	T	T	C	rs3844239		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr1:144856817T>C	ENST00000369354.3	-	40	6857	c.6668A>G	c.(6667-6669)gAg>gGg	p.E2223G	PDE4DIP_ENST00000530740.1_Splice_Site_p.E2308G|PDE4DIP_ENST00000369356.4_Splice_Site_p.E2223G|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000313382.9_Splice_Site_p.E2117G|PDE4DIP_ENST00000369359.4_Splice_Site_p.E2359G			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2223					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.E2223G(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTGATTACCTCTGTGCCTTG	0.478			T	PDGFRB	MPD																																	.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	2	Substitution - Missense(2)	prostate(2)											52.0	38.0	43.0					1																	144856817		2202	4294	6496	SO:0001630	splice_region_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6669+1A>G	1.37:g.144856817T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.30|14.30	2.495079|2.495079	0.44352|0.44352	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530130	T;T;T;T;T|.	0.01871|.	4.59;4.69;4.67;4.69;4.69|.	4.52|4.52	3.39|3.39	0.38822|0.38822	.|.	.|.	.|.	.|.	.|.	T|T	0.52885|0.52885	0.1762|0.1762	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	B;B|.	0.17852|.	0.0;0.024|.	B;B|.	0.20184|.	0.0;0.028|.	T|T	0.54193|0.54193	-0.8330|-0.8330	9|5	0.59425|.	D|.	0.04|.	.|.	8.6174|8.6174	0.33840|0.33840	0.0:0.0946:0.0:0.9054|0.0:0.0946:0.0:0.9054	rs3844239|rs3844239	2117;2223|.	Q5VU43-3;Q5VU43|.	.;MYOME_HUMAN|.	G|G	2117;2223;2223;2308;2359|300	ENSP00000327209:E2117G;ENSP00000358360:E2223G;ENSP00000358363:E2223G;ENSP00000435654:E2308G;ENSP00000358366:E2359G|.	ENSP00000327209:E2117G|.	E|R	-|-	2|1	0|2	PDE4DIP|PDE4DIP	143568174|143568174	1.000000|1.000000	0.71417|0.71417	0.886000|0.886000	0.34754|0.34754	0.224000|0.224000	0.24922|0.24922	3.513000|3.513000	0.53414|0.53414	0.702000|0.702000	0.31825|0.31825	-0.566000|-0.566000	0.04163|0.04163	GAG|AGG		0.478	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	Missense_Mutation
PI4KAP2	375133	mdanderson.org	37	22	21829555	21829555	+	RNA	SNP	T	T	G	rs377578228		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr22:21829555T>G	ENST00000450651.1	-	0	1783							A4QPH2	PI4P2_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.I530L(4)		endometrium(3)|urinary_tract(1)	4						TCCAACATGATAGTGACCAGG	0.607																																						.											4	Substitution - Missense(4)	endometrium(3)|urinary_tract(1)											26.0	21.0	23.0					22																	21829555		692	1582	2274			375133					22q11.21	2014-03-20	2007-08-14		ENSG00000183506	ENSG00000183506			33577	pseudogene	pseudogene							Standard	NR_003700		Approved		uc011aie.1	A4QPH2	OTTHUMG00000150827		22.37:g.21829555T>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ICJ0|Q6ZT68|Q8WUK7	RNA	SNP	ENST00000450651.1	37																																																																																					0.607	PI4KAP2-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000334908.1		
POTEF	728378	mdanderson.org	37	2	130833115	130833115	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr2:130833115T>A	ENST00000409914.2	-	17	2329	c.1930A>T	c.(1930-1932)Atc>Ttc	p.I644F	POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000357462.5_Missense_Mutation_p.I644F|POTEF_ENST00000360967.5_3'UTR	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	644					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCATGCAAGATGTCTTTTTCT	0.338																																						.											0													30.0	32.0	32.0					2																	130833115		1961	4180	6141	SO:0001583	missense	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.1930A>T	2.37:g.130833115T>A	ENSP00000386786:p.Ile644Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.630147	0.00115	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	T;T	0.76709	-1.04;-1.04	0.993	0.0565	0.14319	.	.	.	.	.	T	0.51924	0.1703	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.01281	0.0	T	0.30238	-0.9985	9	0.32370	T	0.25	.	2.5633	0.04777	0.1876:0.0:0.3253:0.487	.	644	A5A3E0	POTEF_HUMAN	F	644	ENSP00000350052:I644F;ENSP00000386786:I644F	ENSP00000350052:I644F	I	-	1	0	POTEF	130549585	0.002000	0.14202	0.001000	0.08648	0.000000	0.00434	0.017000	0.13399	-0.445000	0.07159	-3.433000	0.00037	ATC		0.338	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771	
RBMX	27316	mdanderson.org	37	X	135957699	135957699	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chrX:135957699C>T	ENST00000320676.7	-	6	741	c.587G>A	c.(586-588)aGg>aAg	p.R196K	RBMX_ENST00000496459.2_5'Flank|RBMX_ENST00000562646.1_Missense_Mutation_p.R196K|RBMX_ENST00000565438.1_Missense_Mutation_p.R68K|RBMX_ENST00000570135.1_Missense_Mutation_p.R61K|RBMX_ENST00000431446.3_Missense_Mutation_p.G88R	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	196	Necessary for the association to nascent RNAPII transcripts and nuclear localization.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CAGCGGTTCCCTTCGAGGTGG	0.378																																						.											0													73.0	71.0	72.0					X																	135957699		2203	4299	6502	SO:0001583	missense	27316				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.587G>A	X.37:g.135957699C>T	ENSP00000359645:p.Arg196Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	CCDS14661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	22.5|22.5	4.293036|4.293036	0.80914|0.80914	.|.	.|.	ENSG00000147274|ENSG00000147274	ENST00000431446|ENST00000320676;ENST00000449161	T|T	0.05925|0.77877	3.37|-1.13	5.6|5.6	5.6|5.6	0.85130|0.85130	.|RBM1CTR (1);	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.88336|0.88336	0.6409|0.6409	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999996|0.999996	B|D;D	0.23128|0.76494	0.08|0.999;0.979	B|D;D	0.12837|0.74023	0.008|0.976;0.982	D|D	0.88142|0.88142	0.2845|0.2845	7|8	.|.	.|.	.|.	.|.	18.8827|18.8827	0.92362|0.92362	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	88|196;183	B4E3U4|P38159;Q8N8Y7	.|HNRPG_HUMAN;.	R|K	88|196;183	ENSP00000411989:G88R|ENSP00000359645:R196K	.|.	G|R	-|-	1|2	0|0	RBMX|RBMX	135785365|135785365	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.480000|0.480000	0.33159|0.33159	7.445000|7.445000	0.80570|0.80570	2.493000|2.493000	0.84123|0.84123	0.600000|0.600000	0.82982|0.82982	GGG|AGG		0.378	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139	
TAS2R30	259293	mdanderson.org	37	12	11285899	11285899	+	Silent	SNP	T	T	C	rs111584948		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr12:11285899T>C	ENST00000539585.1	-	1	1344	c.945A>G	c.(943-945)gcA>gcG	p.A315A	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	315				GALCVF -> AALCKG (in Ref. 1; AAU21142). {ECO:0000305}.	detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						AGACACACAATGCCCCTCTTG	0.373																																						.											0													100.0	101.0	101.0					12																	11285899		1973	4181	6154	SO:0001819	synonymous_variant	259293			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.945A>G	12.37:g.11285899T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q645X7	Silent	SNP	ENST00000539585.1	37	CCDS53750.1																																																																																				0.373	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643	
TNRC18	84629	mdanderson.org	37	7	5352659	5352659	+	Silent	SNP	G	G	T	rs138591330	byFrequency	TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr7:5352659G>T	ENST00000430969.1	-	27	8211	c.7863C>A	c.(7861-7863)tcC>tcA	p.S2621S	TNRC18_ENST00000399537.4_Silent_p.S2621S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2621	Ser-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		aggaggaggaggaggatgagg	0.652													G|||	2190	0.4373	0.5076	0.5274	5008	,	,		5586	0.246		0.508	False		,,,				2504	0.4029					.											0													5.0	8.0	7.0					7																	5352659		1382	3171	4553	SO:0001819	synonymous_variant	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7863C>A	7.37:g.5352659G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1	760	0.34798534798534797	201	0.40853658536585363	151	0.4171270718232044	104	0.18181818181818182	304	0.40105540897097625	N	0.009	-1.858244	0.00558	.	.	ENSG00000182095	ENST00000399544	.	.	.	4.17	-1.59	0.08453	.	0.589271	0.12916	N	0.428578	T	0.00012	0.0000	.	.	.	0.34255	P	0.32071700000000003	.	.	.	.	.	.	T	0.40776	-0.9545	5	0.87932	D	0	.	4.5564	0.12138	0.3329:0.0:0.5125:0.1546	.	.	.	.	H	1134	.	ENSP00000382459:P1134H	P	-	2	0	TNRC18	5319185	1.000000	0.71417	0.029000	0.17559	0.001000	0.01503	0.742000	0.26216	-0.333000	0.08476	-1.713000	0.00713	CCT		0.652	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
ELAC2	60528	bcgsc.ca	37	17	12908367	12908367	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr17:12908367C>T	ENST00000338034.4	-	11	1161	c.922G>A	c.(922-924)Gtg>Atg	p.V308M	ELAC2_ENST00000426905.3_Missense_Mutation_p.V268M|ELAC2_ENST00000395962.2_Missense_Mutation_p.V289M|ELAC2_ENST00000609345.1_5'UTR	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	308					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CATTCTACCACCACAAAAGCA	0.512																																						.											0													201.0	193.0	196.0					17																	12908367		2203	4300	6503	SO:0001583	missense	60528			AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.922G>A	17.37:g.12908367C>T	ENSP00000337445:p.Val308Met	Somatic		WXS	Illumina HiSeq	Phase_I	B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	CCDS11164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.59|13.59	2.282467|2.282467	0.40394|0.40394	.|.	.|.	ENSG00000006744|ENSG00000006744	ENST00000446899|ENST00000426905;ENST00000338034;ENST00000395962;ENST00000457438	.|T;T;T	.|0.55930	.|0.49;0.49;0.49	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	.|0.202456	.|0.40818	.|N	.|0.001001	T|T	0.71904|0.71904	0.3395|0.3395	M|M	0.80183|0.80183	2.485|2.485	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D;D;D;D;D	.|0.76494	.|0.996;0.999;0.997;0.999;0.998;0.996	.|P;D;D;D;D;D	.|0.71870	.|0.859;0.957;0.975;0.957;0.925;0.925	T|T	0.75825|0.75825	-0.3181|-0.3181	5|10	.|0.87932	.|D	.|0	-29.6091|-29.6091	13.501|13.501	0.61454|0.61454	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|268;291;289;131;308;68	.|B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9	.|.;.;.;.;RNZ2_HUMAN;.	D|M	87|268;308;289;18	.|ENSP00000405223:V268M;ENSP00000337445:V308M;ENSP00000379291:V289M	.|ENSP00000337445:V308M	G|V	-|-	2|1	0|0	ELAC2|ELAC2	12849092|12849092	0.996000|0.996000	0.38824|0.38824	0.952000|0.952000	0.39060|0.39060	0.947000|0.947000	0.59692|0.59692	3.430000|3.430000	0.52807|0.52807	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	GGT|GTG		0.512	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5		
CACNA1A	773	bcgsc.ca	37	19	13366015	13366015	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:13366015T>C	ENST00000360228.5	-	29	4648	c.4649A>G	c.(4648-4650)aAc>aGc	p.N1550S	CACNA1A_ENST00000573710.2_Missense_Mutation_p.N1551S|CACNA1A_ENST00000574822.1_5'Flank	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1551					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTCTGCTTGTTCTGCGGCAT	0.597																																						.											0													70.0	78.0	75.0					19																	13366015		2151	4247	6398	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4649A>G	19.37:g.13366015T>C	ENSP00000353362:p.Asn1550Ser	Somatic		WXS	Illumina HiSeq	Phase_I	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.071462	0.55646	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	D	0.96011	-3.88	4.79	4.79	0.61399	.	0.187057	0.43747	D	0.000533	D	0.96549	0.8874	M	0.93594	3.435	0.54753	D	0.999987	P;P;D;P	0.58268	0.745;0.835;0.982;0.745	B;P;P;B	0.45195	0.275;0.465;0.473;0.275	D	0.97011	0.9736	10	0.87932	D	0	.	13.388	0.60807	0.0:0.0:0.0:1.0	.	1551;1554;1550;1551	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	S	1550;1554;1551;1551;167	ENSP00000353362:N1550S	ENSP00000317661:N1551S	N	-	2	0	CACNA1A	13227015	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	6.206000	0.72154	1.805000	0.52779	0.524000	0.50904	AAC		0.597	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
ZNF14	7561	bcgsc.ca	37	19	19822268	19822268	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:19822268A>G	ENST00000344099.3	-	4	1960	c.1822T>C	c.(1822-1824)Tct>Cct	p.S608P		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	608					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				CCAGTGTGAGACCTTTCATGA	0.418																																						.											0													80.0	78.0	79.0					19																	19822268		2203	4300	6503	SO:0001583	missense	7561			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1822T>C	19.37:g.19822268A>G	ENSP00000340514:p.Ser608Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.926842	0.52759	.	.	ENSG00000105708	ENST00000344099	T	0.08193	3.12	1.8	0.667	0.17907	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07369	0.0186	L	0.37800	1.135	0.21064	N	0.999794	P	0.48407	0.91	P	0.44772	0.46	T	0.28235	-1.0050	9	0.72032	D	0.01	.	2.241	0.04020	0.3263:0.0:0.2447:0.4291	.	608	P17017	ZNF14_HUMAN	P	608	ENSP00000340514:S608P	ENSP00000340514:S608P	S	-	1	0	ZNF14	19683268	0.007000	0.16637	0.089000	0.20774	0.983000	0.72400	1.471000	0.35365	-0.048000	0.13401	0.383000	0.25322	TCT		0.418	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030	
DBP	1628	bcgsc.ca	37	19	49134134	49134156	+	Frame_Shift_Del	DEL	GGCGCGGTAGTGGGACAGCTCCT	GGCGCGGTAGTGGGACAGCTCCT	-			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	GGCGCGGTAGTGGGACAGCTCCT	GGCGCGGTAGTGGGACAGCTCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:49134134_49134156delGGCGCGGTAGTGGGACAGCTCCT	ENST00000222122.5	-	4	1359_1381	c.916_938delAGGAGCTGTCCCACTACCGCGCC	c.(916-939)aggagctgtcccactaccgcgcccfs	p.RSCPTTAP306fs	DBP_ENST00000593500.1_Frame_Shift_Del_p.RSCPTTAP104fs|DBP_ENST00000599385.1_Frame_Shift_Del_p.RSCPTTAP104fs	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	306	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				liver development (GO:0001889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		GGACAGCACGGCGCGGTAGTGGGACAGCTCCTGGCGCACGGCC	0.686																																						.											0																																										SO:0001589	frameshift_variant	1628			U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.916_938delAGGAGCTGTCCCACTACCGCGCC	19.37:g.49134134_49134156delGGCGCGGTAGTGGGACAGCTCCT	ENSP00000222122:p.Arg306fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2I2P4	Frame_Shift_Del	DEL	ENST00000222122.5	37	CCDS12728.1																																																																																				0.686	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	NM_001352	
DNAH1	25981	bcgsc.ca	37	3	52387428	52387428	+	Missense_Mutation	SNP	C	C	T	rs540247484		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr3:52387428C>T	ENST00000420323.2	+	20	3520	c.3259C>T	c.(3259-3261)Cgc>Tgc	p.R1087C		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1087	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CATCCGGGCCCGCATCGAGGA	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		21226	0.0		0.001	False		,,,				2504	0.0					.											0													61.0	67.0	65.0					3																	52387428		2075	4190	6265	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3259C>T	3.37:g.52387428C>T	ENSP00000401514:p.Arg1087Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233992	0.79688	.	.	ENSG00000114841	ENST00000420323	T	0.61742	0.08	5.53	3.54	0.40534	.	0.124980	0.31936	N	0.006825	T	0.72455	0.3462	M	0.78285	2.405	0.46096	D	0.998864	D;D	0.69078	0.995;0.997	P;P	0.61658	0.892;0.827	T	0.77305	-0.2637	10	0.72032	D	0.01	.	14.6023	0.68450	0.2298:0.7702:0.0:0.0	.	1087;1087	C9JXH6;Q9P2D7-3	.;.	C	1087	ENSP00000401514:R1087C	ENSP00000401514:R1087C	R	+	1	0	DNAH1	52362468	0.909000	0.30893	0.999000	0.59377	0.995000	0.86356	1.956000	0.40382	2.597000	0.87782	0.655000	0.94253	CGC		0.617	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
DSPP	1834	bcgsc.ca	37	4	88536234	88536239	+	In_Frame_Del	DEL	AGTGAT	AGTGAT	-	rs555978267	byFrequency	TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	AGTGAT	AGTGAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr4:88536234_88536239delAGTGAT	ENST00000282478.7	+	4	2453_2458	c.2420_2425delAGTGAT	c.(2419-2427)aagtgatgc>agc	p.807_809K*C>S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_In_Frame_Del_p.807_809K*C>S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	807	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		agcaacagcagtgatagcagtgatag	0.49																																						.											0																																										SO:0001651	inframe_deletion	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2420_2425delAGTGAT	4.37:g.88536234_88536239delAGTGAT	ENSP00000282478:p.Lys807_Cys809delinsSer	Somatic		WXS	Illumina HiSeq	Phase_I	A8MUI0|O95815	In_Frame_Del	DEL	ENST00000282478.7	37	CCDS43248.1																																																																																				0.490	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
PCDHB10	56126	bcgsc.ca	37	5	140573754	140573754	+	Missense_Mutation	SNP	A	A	C	rs702386		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr5:140573754A>C	ENST00000239446.4	+	1	1813	c.1629A>C	c.(1627-1629)agA>agC	p.R543S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.			R -> S (in Ref. 2; AAK51616). {ECO:0000305}.	calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGAGCAGAGAGGCGCTGG	0.701																																						.											0													37.0	53.0	47.0					5																	140573754		2191	4291	6482	SO:0001583	missense	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1629A>C	5.37:g.140573754A>C	ENSP00000239446:p.Arg543Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	1085	0.4967948717948718	272	0.5528455284552846	171	0.4723756906077348	330	0.5769230769230769	312	0.41160949868073876	a	3.278	-0.147626	0.06627	.	.	ENSG00000120324	ENST00000239446	T	0.46063	0.88	3.53	3.53	0.40419	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.00005	-3.295	0.50467	P	1.2299999999998423E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.47636	-0.9102	8	0.02654	T	1	.	7.2252	0.26012	0.1715:0.7353:0.0:0.0932	rs702386;rs17844583	543	Q9UN67	PCDBA_HUMAN	S	543	ENSP00000239446:R543S	ENSP00000239446:R543S	R	+	3	2	PCDHB10	140553938	0.001000	0.12720	1.000000	0.80357	0.970000	0.65996	0.307000	0.19296	0.852000	0.35287	-0.233000	0.12211	AGA		0.701	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
