#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_AAChange	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_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TranscriptID	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_dbSNPPopFreq	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
AIM1	202	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	106978191	106978191	+	Splice_Site	SNP	G	G	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr6:106978191G>T	ENST00000369066.3	+	6	3981		c.e6+1			NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1						developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ATTGGGGCACGTAAGTATTTT	0.348																																					.		.											.	AIM1	139	0			c.3494+1G>T						.						125.0	120.0	122.0					6																	106978191		2203	4300	6503	SO:0001630	splice_region_variant	202	exon6			GGGCACGTAAGTA	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3494+1G>T	6.37:g.106978191G>T		142.0	1.0		114.0	26.0	NM_001624	Q6P2P0|Q9BTM3	Splice_Site	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471332	0.63737	.	.	ENSG00000112297	ENST00000369066	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.04	0.92995	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AIM1	107084884	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	7.270000	0.78493	2.495000	0.84180	0.655000	0.94253	.	.		0.348	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		Intron
ALDH1L2	160428	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	105464456	105464456	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr12:105464456A>G	ENST00000258494.9	-	3	460	c.320T>C	c.(319-321)tTc>tCc	p.F107S	RP11-61E11.1_ENST00000547750.1_RNA|ALDH1L2_ENST00000424857.2_Missense_Mutation_p.F107S	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	107	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTGAGTGCAGAAAGGGAGCAC	0.498																																					p.F107S		.											.	ALDH1L2	91	0			c.T320C						.						168.0	137.0	147.0					12																	105464456		2203	4300	6503	SO:0001583	missense	160428	exon3			GTGCAGAAAGGGA	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.320T>C	12.37:g.105464456A>G	ENSP00000258494:p.Phe107Ser	307.0	0.0		335.0	62.0	NM_001034173	Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.683030	0.88542	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.75367	-0.93;-0.93	5.27	5.27	0.74061	Formyl transferase, N-terminal (3);	0.047094	0.85682	D	0.000000	T	0.80607	0.4655	L	0.45470	1.425	0.80722	D	1	D	0.59767	0.986	D	0.72075	0.976	T	0.81924	-0.0710	10	0.72032	D	0.01	.	10.6981	0.45911	0.8576:0.0:0.0:0.1424	.	107	Q3SY69	AL1L2_HUMAN	S	107	ENSP00000258494:F107S;ENSP00000389608:F107S	ENSP00000258494:F107S	F	-	2	0	ALDH1L2	103988586	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.217000	0.77982	2.133000	0.65898	0.533000	0.62120	TTC	.		0.498	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294	
ALMS1	7840	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	2	73677972	73677972	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr2:73677972C>T	ENST00000264448.6	+	8	4426	c.4315C>T	c.(4315-4317)Caa>Taa	p.Q1439*	ALMS1_ENST00000377715.1_Nonsense_Mutation_p.Q1439*|ALMS1_ENST00000409009.1_Nonsense_Mutation_p.Q1397*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1439	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TAGTTTCTACCAACAGGTCTT	0.498																																					p.Q1439X		.											.	ALMS1	142	0			c.C4315T						.						123.0	123.0	123.0					2																	73677972		1869	4109	5978	SO:0001587	stop_gained	7840	exon8			TTCTACCAACAGG	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.4315C>T	2.37:g.73677972C>T	ENSP00000264448:p.Gln1439*	304.0	0.0		246.0	23.0	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Nonsense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	41	8.732772	0.98933	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	.	.	.	4.29	3.41	0.39046	.	1.331870	0.05417	N	0.543610	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	9.7911	0.40706	0.2048:0.7952:0.0:0.0	.	.	.	.	X	1397;1439;1439	.	ENSP00000264448:Q1439X	Q	+	1	0	ALMS1	73531480	0.001000	0.12720	0.004000	0.12327	0.001000	0.01503	0.974000	0.29436	1.382000	0.46385	-0.230000	0.12252	CAA	.		0.498	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
ALMS1	7840	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	73800105	73800105	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr2:73800105C>T	ENST00000264448.6	+	16	11209	c.11098C>T	c.(11098-11100)Cat>Tat	p.H3700Y	ALMS1_ENST00000409009.1_Missense_Mutation_p.H3658Y	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3700					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCTTTCTCATCATCGAGCTGG	0.333																																					p.H3700Y		.											.	ALMS1	142	0			c.C11098T						.						44.0	44.0	44.0					2																	73800105		1818	4065	5883	SO:0001583	missense	7840	exon16			TCTCATCATCGAG	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.11098C>T	2.37:g.73800105C>T	ENSP00000264448:p.His3700Tyr	138.0	0.0		153.0	18.0	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	7.166	0.586628	0.13749	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.08193	3.12;3.12	4.89	2.0	0.26442	.	0.000000	0.47455	D	0.000234	T	0.12774	0.0310	L	0.38175	1.15	0.09310	N	0.999999	D;P;P	0.64830	0.994;0.578;0.578	P;B;B	0.62184	0.899;0.264;0.264	T	0.05321	-1.0892	10	0.66056	D	0.02	.	4.4163	0.11457	0.1781:0.6328:0.0:0.1891	.	3700;3658;3700	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	Y	3658;3700	ENSP00000386627:H3658Y;ENSP00000264448:H3700Y	ENSP00000264448:H3700Y	H	+	1	0	ALMS1	73653613	0.000000	0.05858	0.016000	0.15963	0.006000	0.05464	0.222000	0.17699	0.642000	0.30620	0.609000	0.83330	CAT	.		0.333	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
ANKRD18B	441459	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	9	33567266	33567266	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr9:33567266G>T	ENST00000290943.6	+	14	2818	c.2722G>T	c.(2722-2724)Gca>Tca	p.A908S	ANKRD18B_ENST00000426460.2_3'UTR	NM_001244752.1	NP_001231681.1	A2A2Z9	AN18B_HUMAN	ankyrin repeat domain 18B	908										NS(1)|breast(1)|endometrium(2)|lung(1)|prostate(1)|stomach(1)	7						GGAAGCCTTTGCAGTAGCATT	0.308																																					p.A907S		.											.	.	.	0			c.G2719T						.																																			SO:0001583	missense	441459	exon14			GCCTTTGCAGTAG			9p13.3	2013-01-10			ENSG00000230453	ENSG00000230453		"""Ankyrin repeat domain containing"""	23644	protein-coding gene	gene with protein product							Standard	NM_001244752		Approved	bA255A11.3	uc010mjw.2	A2A2Z9	OTTHUMG00000019776	ENST00000290943.6:c.2722G>T	9.37:g.33567266G>T	ENSP00000290943:p.Ala908Ser	372.0	0.0		436.0	59.0	NM_001244752		Missense_Mutation	SNP	ENST00000290943.6	37		.	.	.	.	.	.	.	.	.	.	g	0.406	-0.915995	0.02415	.	.	ENSG00000230453	ENST00000290943;ENST00000357927	T;T	0.31247	1.5;1.5	1.6	-0.706	0.11249	.	.	.	.	.	T	0.13970	0.0338	.	.	.	0.20403	N	0.999908	.	.	.	.	.	.	T	0.35475	-0.9787	5	0.14252	T	0.57	.	3.4396	0.07458	0.2695:0.422:0.3085:0.0	.	.	.	.	S	908;289	ENSP00000290943:A908S;ENSP00000350607:A289S	ENSP00000290943:A908S	A	+	1	0	ANKRD18B	33557266	0.006000	0.16342	0.002000	0.10522	0.001000	0.01503	-1.492000	0.02300	-0.194000	0.10399	-0.531000	0.04308	GCA	.		0.308	ANKRD18B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000313729.2	XM_001718334	
ANO5	203859	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	22297639	22297639	+	Splice_Site	DEL	G	G	-			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr11:22297639delG	ENST00000324559.8	+	21	2731		c.e21-1		ANO5_ENST00000532043.1_Splice_Site	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCACTTTTCAGGTACAGAGAT	0.323																																					.		.											.	ANO5	515	0			c.2412-1G>-						.						70.0	67.0	68.0					11																	22297639		2203	4298	6501	SO:0001630	splice_region_variant	203859	exon21			TTTTCAGGTACAG	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2415-1G>-	11.37:g.22297639delG		200.0	0.0		287.0	31.0	NM_001142649		Splice_Site	DEL	ENST00000324559.8	37	CCDS31444.1																																																																																			.		0.323	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599	Intron
ATXN7L1	222255	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	105254791	105254791	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr7:105254791T>C	ENST00000419735.3	-	10	2035	c.1990A>G	c.(1990-1992)Aca>Gca	p.T664A	ATXN7L1_ENST00000477775.1_Missense_Mutation_p.T540A|ATXN7L1_ENST00000388807.4_Missense_Mutation_p.T324A	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	664	Ser-rich.									endometrium(1)|large_intestine(4)|lung(5)	10						GAGAGGGATGTCTGCAaggaa	0.522																																					p.T664A		.											.	ATXN7L1	90	0			c.A1990G						.						174.0	136.0	148.0					7																	105254791		692	1591	2283	SO:0001583	missense	222255	exon10			GGGATGTCTGCAA	AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.1990A>G	7.37:g.105254791T>C	ENSP00000410759:p.Thr664Ala	402.0	1.0		466.0	82.0	NM_020725	A4D0Q2|B4DTS1|Q8N2T0	Missense_Mutation	SNP	ENST00000419735.3	37	CCDS47682.1	.	.	.	.	.	.	.	.	.	.	t	6.869	0.529615	0.13127	.	.	ENSG00000146776	ENST00000419735;ENST00000477775;ENST00000484475;ENST00000388807;ENST00000472195	T;T;T;T;T	0.18174	2.52;2.51;2.23;2.23;2.53	5.59	-1.33	0.09172	.	0.322430	0.29752	N	0.011284	T	0.07007	0.0178	N	0.22421	0.69	0.23636	N	0.997233	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.29640	-1.0005	10	0.15066	T	0.55	.	1.9174	0.03300	0.1197:0.2049:0.1244:0.5511	.	550;540;664	A4D0Q3;Q9ULK2-3;Q9ULK2	.;.;AT7L1_HUMAN	A	664;540;365;324;540	ENSP00000410759:T664A;ENSP00000418476:T540A;ENSP00000418900:T365A;ENSP00000373459:T324A;ENSP00000419566:T540A	ENSP00000373459:T324A	T	-	1	0	ATXN7L1	105042027	0.996000	0.38824	0.699000	0.30290	0.829000	0.46940	0.202000	0.17295	-0.137000	0.11455	-0.253000	0.11424	ACA	.		0.522	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349037.2		
AXIN2	8313	broad.mit.edu;bcgsc.ca	37	17	63532595	63532595	+	Silent	SNP	G	G	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr17:63532595G>A	ENST00000375702.5	-	6	1897	c.1789C>T	c.(1789-1791)Ctg>Ttg	p.L597L	AXIN2_ENST00000307078.5_Silent_p.L662L			Q9Y2T1	AXIN2_HUMAN	axin 2	637				Missing (in Ref. 2; AAF22799). {ECO:0000305}.	bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CCCCCCCACAGATGGTGCCGG	0.652									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																												p.L662L		.											.	AXIN2	658	0			c.C1984T						.						28.0	34.0	32.0					17																	63532595		2202	4295	6497	SO:0001819	synonymous_variant	8313	exon8	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	CCCACAGATGGTG	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1789C>T	17.37:g.63532595G>A		57.0	0.0		123.0	18.0	NM_004655	Q3MJ88|Q9H3M6|Q9UH84	Silent	SNP	ENST00000375702.5	37																																																																																				.		0.652	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655	
BCDIN3D	144233	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	50236856	50236856	+	Silent	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr12:50236856C>A	ENST00000333924.4	-	1	56	c.15G>T	c.(13-15)acG>acT	p.T5T	BCDIN3D-AS1_ENST00000549124.1_RNA|BCDIN3D-AS1_ENST00000548872.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	5					miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						CATCCAGTTCCGTGGGCACCG	0.642																																					p.T5T		.											.	BCDIN3D	69	0			c.G15T						.						40.0	38.0	39.0					12																	50236856		2202	4299	6501	SO:0001819	synonymous_variant	144233	exon1			CAGTTCCGTGGGC		CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.15G>T	12.37:g.50236856C>A		55.0	0.0		88.0	16.0	NM_181708	A8K829	Silent	SNP	ENST00000333924.4	37	CCDS8790.1																																																																																			.		0.642	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405982.1	NM_181708	
ERICH3	127254	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	1	75037157	75037157	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr1:75037157C>A	ENST00000326665.5	-	14	4455	c.4237G>T	c.(4237-4239)Gag>Tag	p.E1413*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1413	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGCACTTCCTCCCCACTCCGT	0.552																																					p.E1413X		.											.	C1orf173	94	0			c.G4237T						.						99.0	99.0	99.0					1																	75037157		2203	4300	6503	SO:0001587	stop_gained	127254	exon14			CTTCCTCCCCACT																												ENST00000326665.5:c.4237G>T	1.37:g.75037157C>A	ENSP00000322609:p.Glu1413*	358.0	0.0		299.0	41.0	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	42	9.519403	0.99193	.	.	ENSG00000178965	ENST00000326665	.	.	.	4.58	3.64	0.41730	.	.	.	.	.	.	.	.	.	.	.	0.25645	N	0.986154	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-1.463	12.1663	0.54131	0.0:0.8257:0.1743:0.0	.	.	.	.	X	1413	.	ENSP00000322609:E1413X	E	-	1	0	C1orf173	74809745	0.087000	0.21565	0.027000	0.17364	0.032000	0.12392	2.336000	0.43938	0.888000	0.36160	0.561000	0.74099	GAG	.		0.552	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
C9orf171	389799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	135413022	135413022	+	Missense_Mutation	SNP	C	C	T	rs182716958		TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr9:135413022C>T	ENST00000343036.2	+	5	715	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	C9orf171_ENST00000393216.2_Missense_Mutation_p.R187W	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	223										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GCTGCAGCACCGGTACCTGCA	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18038	0.0		0.0	False		,,,				2504	0.0				p.R223W		.											.	C9orf171	157	0			c.C667T						.	C	TRP/ARG	0,4406		0,0,2203	102.0	102.0	102.0		667	4.4	1.0	9		102	2,8598	2.2+/-6.3	0,2,4298	no	missense	C9orf171	NM_207417.1	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	223/321	135413022	2,13004	2203	4300	6503	SO:0001583	missense	389799	exon5			CAGCACCGGTACC	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.667C>T	9.37:g.135413022C>T	ENSP00000343290:p.Arg223Trp	124.0	0.0		138.0	29.0	NM_207417	Q147X1	Missense_Mutation	SNP	ENST00000343036.2	37	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987725	0.74589	0.0	2.33E-4	ENSG00000188523	ENST00000343036;ENST00000393216	T;T	0.24723	1.84;1.84	5.36	4.39	0.52855	.	0.236354	0.30920	N	0.008601	T	0.42698	0.1214	L	0.54323	1.7	0.33714	D	0.61615	D;D	0.89917	0.999;1.0	D;D	0.76575	0.932;0.988	T	0.55749	-0.8092	10	0.87932	D	0	.	10.0255	0.42068	0.3051:0.6949:0.0:0.0	.	187;223	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	W	223;187	ENSP00000343290:R223W;ENSP00000376909:R187W	ENSP00000343290:R223W	R	+	1	2	C9orf171	134402843	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.659000	0.46741	2.501000	0.84356	0.591000	0.81541	CGG	C|0.865;A|0.135		0.577	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417	
CACNA1E	777	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	181688911	181688911	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr1:181688911G>A	ENST00000367573.2	+	13	1663	c.1663G>A	c.(1663-1665)Gtg>Atg	p.V555M	CACNA1E_ENST00000367570.1_Missense_Mutation_p.V555M|CACNA1E_ENST00000526775.1_Missense_Mutation_p.V555M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V506M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V506M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V555M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V162M	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	555					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TATCTTTGAAGTGGTCTGGGC	0.502																																					p.V555M		.											.	CACNA1E	95	0			c.G1663A						.						115.0	106.0	109.0					1																	181688911		1974	4162	6136	SO:0001583	missense	777	exon13			TTTGAAGTGGTCT	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1663G>A	1.37:g.181688911G>A	ENSP00000356545:p.Val555Met	360.0	1.0		445.0	44.0	NM_001205293	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854164	0.91355	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03;-5.03;-5.03;-5.03	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.98874	0.9619	M	0.64567	1.98	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	D;D	0.69142	0.962;0.962	D	0.99904	1.1174	10	0.87932	D	0	.	18.9125	0.92491	0.0:0.0:1.0:0.0	.	555;555	Q15878-2;Q15878-3	.;.	M	555;555;506;506;162;555;555	ENSP00000356542:V555M;ENSP00000434814:V555M;ENSP00000350183:V506M;ENSP00000351101:V506M;ENSP00000356539:V162M;ENSP00000353222:V555M;ENSP00000356545:V555M	ENSP00000350183:V506M	V	+	1	0	CACNA1E	179955534	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.930000	0.87610	2.563000	0.86464	0.655000	0.94253	GTG	.		0.502	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
CCDC155	147872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	49920647	49920647	+	Silent	SNP	C	C	A	rs182291239	byFrequency	TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr19:49920647C>A	ENST00000447857.3	+	20	1774	c.1569C>A	c.(1567-1569)atC>atA	p.I523I		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	523						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						ATCCACTGATCCCAGCTCCTG	0.642																																					p.I523I		.											.	CCDC155	69	0			c.C1569A						.						54.0	61.0	59.0					19																	49920647		2133	4220	6353	SO:0001819	synonymous_variant	147872	exon20			ACTGATCCCAGCT		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1569C>A	19.37:g.49920647C>A		105.0	0.0		137.0	30.0	NM_144688	Q96MC3	Silent	SNP	ENST00000447857.3	37	CCDS46140.1																																																																																			C|0.999;T|0.000		0.642	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688	
CDC42BPB	9578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	103430853	103430853	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr14:103430853G>T	ENST00000361246.2	-	19	3000	c.2712C>A	c.(2710-2712)aaC>aaA	p.N904K		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCAAGGTGAGGTTGGCGTCCT	0.652																																					p.N904K		.											.	CDC42BPB	581	0			c.C2712A						.						72.0	65.0	67.0					14																	103430853		2203	4300	6503	SO:0001583	missense	9578	exon19			GGTGAGGTTGGCG	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.2712C>A	14.37:g.103430853G>T	ENSP00000355237:p.Asn904Lys	58.0	0.0		60.0	13.0	NM_006035		Missense_Mutation	SNP	ENST00000361246.2	37	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	6.114	0.389289	0.11581	.	.	ENSG00000198752	ENST00000361246;ENST00000541396	T	0.39056	1.1	5.51	-7.37	0.01412	Myotonic dystrophy protein kinase, coiled coil (2);	0.047074	0.85682	D	0.000000	T	0.39145	0.1067	M	0.71581	2.175	0.39011	D	0.959553	B;B	0.17465	0.022;0.022	B;B	0.35353	0.201;0.143	T	0.22312	-1.0220	10	0.30078	T	0.28	.	11.6997	0.51564	0.3722:0.0764:0.5514:0.0	.	904;904	A9JR72;Q9Y5S2	.;MRCKB_HUMAN	K	904;41	ENSP00000355237:N904K	ENSP00000355237:N904K	N	-	3	2	CDC42BPB	102500606	0.996000	0.38824	0.000000	0.03702	0.141000	0.21300	0.383000	0.20651	-1.475000	0.01876	-0.253000	0.11424	AAC	.		0.652	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035	
CEACAM4	1089	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	42132051	42132051	+	Missense_Mutation	SNP	G	G	T	rs199959927		TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr19:42132051G>T	ENST00000221954.2	-	2	458	c.348C>A	c.(346-348)gaC>gaA	p.D116E	CEACAM4_ENST00000600925.1_Missense_Mutation_p.D116E	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	116	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						AGGATCCTGCGTCCTCCAGGG	0.522																																					p.D116E		.											.	CEACAM4	90	0			c.C348A						.						197.0	170.0	179.0					19																	42132051		2203	4300	6503	SO:0001583	missense	1089	exon2			TCCTGCGTCCTCC	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.348C>A	19.37:g.42132051G>T	ENSP00000221954:p.Asp116Glu	540.0	0.0		590.0	108.0	NM_001817	Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399384	0.42512	.	.	ENSG00000105352	ENST00000221954	D	0.87729	-2.29	1.82	1.82	0.25136	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94056	0.8095	H	0.95679	3.705	0.09310	N	1	D;D	0.76494	0.999;0.976	D;P	0.69142	0.962;0.821	D	0.84347	0.0530	9	0.87932	D	0	.	7.103	0.25348	0.0:0.0:1.0:0.0	.	116;116	E7EMX3;O75871	.;CEAM4_HUMAN	E	116	ENSP00000221954:D116E	ENSP00000221954:D116E	D	-	3	2	CEACAM4	46823891	0.018000	0.18449	0.007000	0.13788	0.010000	0.07245	0.956000	0.29202	1.319000	0.45190	0.313000	0.20887	GAC	G|0.999;A|0.001		0.522	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817	
CHM	1121	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	85218969	85218969	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chrX:85218969C>G	ENST00000357749.2	-	5	432	c.403G>C	c.(403-405)Gat>Cat	p.D135H	CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_5'UTR	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	135					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				AAGGCAGAATCTGCAGCTTCT	0.453																																					p.D135H		.											.	CHM	131	0			c.G403C						.						80.0	69.0	73.0					X																	85218969		2203	4300	6503	SO:0001583	missense	1121	exon5			CAGAATCTGCAGC	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.403G>C	X.37:g.85218969C>G	ENSP00000350386:p.Asp135His	254.0	1.0		320.0	63.0	NM_000390	A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	C	2.434	-0.330191	0.05314	.	.	ENSG00000188419	ENST00000357749	T	0.59502	0.26	4.64	0.677	0.17964	.	0.600547	0.17895	N	0.158391	T	0.35508	0.0934	N	0.21448	0.665	0.09310	N	0.999998	B	0.12630	0.006	B	0.14023	0.01	T	0.19484	-1.0304	10	0.54805	T	0.06	-0.0743	2.2676	0.04083	0.1209:0.4594:0.1255:0.2941	.	135	P24386	RAE1_HUMAN	H	135	ENSP00000350386:D135H	ENSP00000350386:D135H	D	-	1	0	CHM	85105625	0.020000	0.18652	0.020000	0.16555	0.108000	0.19459	1.596000	0.36718	-0.245000	0.09625	0.284000	0.19432	GAT	.		0.453	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390	
COL22A1	169044	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	139838990	139838990	+	Missense_Mutation	SNP	C	C	A	rs372910376		TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr8:139838990C>A	ENST00000303045.6	-	6	1326	c.880G>T	c.(880-882)Gcc>Tcc	p.A294S	COL22A1_ENST00000435777.1_Missense_Mutation_p.A294S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	294	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTGACAAAGGCGTACTCATCA	0.532										HNSCC(7;0.00092)																											p.A294S		.											.	COL22A1	103	0			c.G880T						.						117.0	95.0	103.0					8																	139838990		2203	4300	6503	SO:0001583	missense	169044	exon6			CAAAGGCGTACTC	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.880G>T	8.37:g.139838990C>A	ENSP00000303153:p.Ala294Ser	121.0	0.0		138.0	35.0	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633641	0.87660	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.13778	2.56;2.56	5.21	5.21	0.72293	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.46758	U	0.000264	T	0.27559	0.0677	L	0.33485	1.01	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	T	0.01182	-1.1426	9	.	.	.	.	17.8006	0.88586	0.0:1.0:0.0:0.0	.	294	Q8NFW1	COMA1_HUMAN	S	294	ENSP00000303153:A294S;ENSP00000387655:A294S	.	A	-	1	0	COL22A1	139908172	1.000000	0.71417	0.999000	0.59377	0.827000	0.46813	4.718000	0.61930	2.452000	0.82932	0.644000	0.83932	GCC	.		0.532	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
COMMD6	170622	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	76111799	76111799	+	Splice_Site	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr13:76111799C>A	ENST00000377615.3	-	3	219		c.e3+1		COMMD6_ENST00000406936.3_Splice_Site|COMMD6_ENST00000460675.1_Intron|COMMD6_ENST00000377619.5_5'Flank|COMMD6_ENST00000355801.4_Splice_Site			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6						negative regulation of NF-kappaB transcription factor activity (GO:0032088)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		CGCTCACCCACCTGGTTGGTG	0.627																																					.		.											.	COMMD6	90	0			c.54+1G>T						.						60.0	56.0	57.0					13																	76111799		2203	4300	6503	SO:0001630	splice_region_variant	170622	exon3			CACCCACCTGGTT	AY542161	CCDS9451.1, CCDS9452.1	13q22	2004-02-18			ENSG00000188243	ENSG00000188243			24015	protein-coding gene	gene with protein product		612377				15799966	Standard	NM_203497		Approved	Acrg	uc001vjn.1	Q7Z4G1	OTTHUMG00000017089	ENST00000377615.3:c.54+1G>T	13.37:g.76111799C>A		63.0	0.0		78.0	13.0	NM_203497	A6NF28|B7ZLN0|Q5TBK4	Splice_Site	SNP	ENST00000377615.3	37	CCDS9451.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898710	0.72639	.	.	ENSG00000188243	ENST00000406936;ENST00000377615;ENST00000355801	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5719	0.61851	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COMMD6	75009800	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.273000	0.51623	2.563000	0.86464	0.655000	0.94253	.	.		0.627	COMMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045288.4	XM_085023	Intron
CSMD3	114788	broad.mit.edu;bcgsc.ca	37	8	113402913	113402913	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr8:113402913G>A	ENST00000297405.5	-	36	6158	c.5914C>T	c.(5914-5916)Cca>Tca	p.P1972S	CSMD3_ENST00000455883.2_Missense_Mutation_p.P1868S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1902S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1932S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1972	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCTCCCTCTGGCACTGTGATC	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.P1972S		.											.	CSMD3	1132	0			c.C5914T						.						85.0	80.0	82.0					8																	113402913		2203	4300	6503	SO:0001583	missense	114788	exon36			CCTCTGGCACTGT	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5914C>T	8.37:g.113402913G>A	ENSP00000297405:p.Pro1972Ser	98.0	0.0		123.0	6.0	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585602	0.66105	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.14	4.27	0.50696	CUB (5);	0.075579	0.53938	D	0.000056	T	0.29716	0.0742	L	0.33189	0.99	0.54753	D	0.999984	P;B;P	0.40230	0.686;0.132;0.708	B;B;B	0.42738	0.396;0.101;0.279	T	0.02844	-1.1103	10	0.11182	T	0.66	.	13.7414	0.62849	0.0739:0.0:0.9261:0.0	.	1868;1972;1932	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	1932;1972;1242;1868;1902	ENSP00000345799:P1932S;ENSP00000297405:P1972S;ENSP00000341558:P1242S;ENSP00000412263:P1868S;ENSP00000343124:P1902S	ENSP00000297405:P1972S	P	-	1	0	CSMD3	113472089	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	5.322000	0.65852	1.408000	0.46895	-0.373000	0.07131	CCA	.		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CUL7	9820	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	43012996	43012996	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr6:43012996C>T	ENST00000265348.3	-	15	3092	c.3007G>A	c.(3007-3009)Gac>Aac	p.D1003N	CUL7_ENST00000535468.1_Missense_Mutation_p.D1087N|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	1003					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTCCTGCGGTCCTCTGCCATG	0.582																																					p.D1087N		.											.	CUL7	229	0			c.G3259A						.						89.0	84.0	86.0					6																	43012996		2203	4300	6503	SO:0001583	missense	9820	exon15			TGCGGTCCTCTGC	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.3007G>A	6.37:g.43012996C>T	ENSP00000265348:p.Asp1003Asn	112.0	0.0		125.0	9.0	NM_001168370	B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570692	0.65765	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	D;D	0.83163	-1.66;-1.69	4.98	4.07	0.47477	.	0.150464	0.64402	N	0.000016	T	0.75199	0.3817	M	0.66939	2.045	0.80722	D	1	B;B;B	0.26258	0.145;0.124;0.129	B;B;B	0.37387	0.13;0.248;0.248	T	0.75861	-0.3168	10	0.59425	D	0.04	-16.9653	8.5871	0.33664	0.0:0.8162:0.0:0.1838	.	1087;1087;1003	F5H0L1;B4DYZ0;Q14999	.;.;CUL7_HUMAN	N	1003;1087	ENSP00000265348:D1003N;ENSP00000438788:D1087N	ENSP00000265348:D1003N	D	-	1	0	CUL7	43120974	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.877000	0.63086	1.018000	0.39521	0.563000	0.77884	GAC	.		0.582	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780	
FNDC9	408263	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	156768087	156768087	+	IGR	SNP	G	G	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr5:156768087G>T	ENST00000312349.4	-	0	2125				CYFIP2_ENST00000442283.2_Silent_p.R150R|CYFIP2_ENST00000521420.1_Silent_p.R839R|CYFIP2_ENST00000318218.6_Silent_p.R890R|CYFIP2_ENST00000347377.6_Silent_p.R865R|CYFIP2_ENST00000541131.1_Silent_p.R790R|CYFIP2_ENST00000435847.2_Silent_p.R564R|CYFIP2_ENST00000377576.3_Silent_p.R865R|CYFIP2_ENST00000522463.1_Silent_p.R669R	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GTTTTGTGCGGACTGCCATTC	0.473																																					p.R865R		.											.	CYFIP2	22	0			c.G2595T						.						125.0	120.0	122.0					5																	156768087		1916	4132	6048	SO:0001628	intergenic_variant	26999	exon23			TGTGCGGACTGCC	BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"""Fibronectin type III domain containing"""	33547	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 40"""	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248		5.37:g.156768087G>T		245.0	0.0		251.0	42.0	NM_001037332	A8K0Y6	Silent	SNP	ENST00000312349.4	37	CCDS4337.1																																																																																			.		0.473	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343	
DGKG	1608	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	185986694	185986694	+	Missense_Mutation	SNP	C	C	G	rs199552752	byFrequency	TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr3:185986694C>G	ENST00000265022.3	-	12	1551	c.1012G>C	c.(1012-1014)Gca>Cca	p.A338P	DGKG_ENST00000344484.4_Missense_Mutation_p.A338P|DGKG_ENST00000382164.4_Intron|DGKG_ENST00000544847.1_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	338					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TCCACCCATGCGTGCTGCATC	0.617																																					p.A338P		.											.	DGKG	714	0			c.G1012C						.						79.0	58.0	65.0					3																	185986694		2203	4300	6503	SO:0001583	missense	1608	exon12			CCCATGCGTGCTG	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1012G>C	3.37:g.185986694C>G	ENSP00000265022:p.Ala338Pro	54.0	0.0		63.0	6.0	NM_001346	B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170056	0.57584	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000437018	D;D;D	0.84370	-1.84;-1.84;-1.84	5.16	5.16	0.70880	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.215935	0.40554	N	0.001075	T	0.82024	0.4947	L	0.36672	1.1	0.80722	D	1	P;P	0.52170	0.904;0.951	P;P	0.51806	0.68;0.677	T	0.80228	-0.1469	10	0.39692	T	0.17	.	7.1328	0.25510	0.1721:0.7414:0.0:0.0865	.	338;338	P49619-2;P49619	.;DGKG_HUMAN	P	338;338;89	ENSP00000265022:A338P;ENSP00000339777:A338P;ENSP00000395526:A89P	ENSP00000265022:A338P	A	-	1	0	DGKG	187469388	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	0.676000	0.25247	2.590000	0.87494	0.563000	0.77884	GCA	.		0.617	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3		
DNAH10	196385	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	124387605	124387605	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr12:124387605G>A	ENST00000409039.3	+	56	9431	c.9406G>A	c.(9406-9408)Gag>Aag	p.E3136K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3136	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCCCATCCTGGAGGCCGCCAA	0.572																																					p.E3136K		.											.	DNAH10	95	0			c.G9406A						.						51.0	62.0	59.0					12																	124387605		2104	4226	6330	SO:0001583	missense	196385	exon56			ATCCTGGAGGCCG	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9406G>A	12.37:g.124387605G>A	ENSP00000386770:p.Glu3136Lys	112.0	0.0		96.0	19.0	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311572	0.81358	.	.	ENSG00000197653	ENST00000409039	T	0.74002	-0.8	5.65	5.65	0.86999	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.88764	0.6525	M	0.89287	3.02	0.58432	D	0.999997	D	0.76494	0.999	D	0.75020	0.985	D	0.89316	0.3636	10	0.52906	T	0.07	.	19.7205	0.96142	0.0:0.0:1.0:0.0	.	3136	Q8IVF4	DYH10_HUMAN	K	3136	ENSP00000386770:E3136K	ENSP00000386770:E3136K	E	+	1	0	DNAH10	122953558	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	6.589000	0.74080	2.671000	0.90904	0.462000	0.41574	GAG	.		0.572	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DPEP2	64174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	68027109	68027109	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr16:68027109G>T	ENST00000572888.1	-	1	657	c.7C>A	c.(7-9)Ccc>Acc	p.P3T	DPEP2_ENST00000412757.2_Missense_Mutation_p.P3T|DPEP2_ENST00000393847.1_Missense_Mutation_p.P3T			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	3					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		AGGCCGGAGGGCTGCATGTTG	0.687											OREG0023893	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P3T		.											.	DPEP2	91	0			c.C7A						.						12.0	12.0	12.0					16																	68027109		2164	4269	6433	SO:0001583	missense	64174	exon2			CGGAGGGCTGCAT	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.7C>A	16.37:g.68027109G>T	ENSP00000458977:p.Pro3Thr	47.0	0.0	1104	68.0	17.0	NM_022355	B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	ENST00000572888.1	37	CCDS10857.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617733	0.46736	.	.	ENSG00000167261	ENST00000393847;ENST00000412757;ENST00000322384;ENST00000268795	T;T	0.23147	1.92;1.92	3.64	0.504	0.16946	.	2.002900	0.02667	N	0.108176	T	0.25082	0.0609	L	0.50333	1.59	0.09310	N	0.999995	B;B	0.24258	0.1;0.01	B;B	0.23018	0.043;0.006	T	0.28681	-1.0036	10	0.72032	D	0.01	-1.9434	4.2288	0.10592	0.1131:0.0:0.4785:0.4084	.	3;3	B4DNP7;Q9H4A9	.;DPEP2_HUMAN	T	3	ENSP00000377430:P3T;ENSP00000412549:P3T	ENSP00000268795:P3T	P	-	1	0	DPEP2	66584610	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	0.611000	0.24268	0.153000	0.19213	-0.314000	0.08810	CCC	.		0.687	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355	
EBF2	64641	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	8	25898461	25898461	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr8:25898461T>G	ENST00000520164.1	-	3	883	c.346A>C	c.(346-348)Agc>Cgc	p.S116R	EBF2_ENST00000408929.3_5'UTR	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	116					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TCACCGTTGCTGTAGAGGAGC	0.582																																					p.S116R	Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	.											.	EBF2	26	0			c.A346C						.						135.0	140.0	138.0					8																	25898461		2030	4202	6232	SO:0001583	missense	64641	exon3			CGTTGCTGTAGAG	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.346A>C	8.37:g.25898461T>G	ENSP00000430241:p.Ser116Arg	562.0	0.0		647.0	62.0	NM_022659	A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	T	31	5.092377	0.94149	.	.	ENSG00000221818	ENST00000520164	T	0.49139	0.79	5.59	5.59	0.84812	.	0.000000	0.85682	U	0.000000	T	0.54382	0.1855	M	0.78049	2.395	0.80722	D	1	D	0.53312	0.959	P	0.44597	0.454	T	0.60622	-0.7227	10	0.44086	T	0.13	-4.0617	15.7811	0.78260	0.0:0.0:0.0:1.0	.	116	Q9HAK2	COE2_HUMAN	R	116	ENSP00000430241:S116R	ENSP00000430241:S116R	S	-	1	0	EBF2	25954378	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.040000	0.89188	2.123000	0.65237	0.533000	0.62120	AGC	.		0.582	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659	
EPG5	57724	broad.mit.edu;bcgsc.ca;mdanderson.org	37	18	43460188	43460188	+	Splice_Site	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr18:43460188C>A	ENST00000282041.5	-	32	5553	c.5519G>T	c.(5518-5520)aGc>aTc	p.S1840I	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1840					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTCCGCGGAGCCTGCCAGCAG	0.547											OREG0024951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S1840I		.											.	EPG5	580	0			c.G5519T						.						10.0	11.0	11.0					18																	43460188		1805	3991	5796	SO:0001630	splice_region_variant	57724	exon32			GCGGAGCCTGCCA	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5519-1G>T	18.37:g.43460188C>A		53.0	0.0	916	63.0	12.0	NM_020964	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583360	0.65992	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.11712	2.75	5.8	5.8	0.92144	.	.	.	.	.	T	0.31670	0.0804	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.66979	0.948	T	0.00402	-1.1762	9	0.72032	D	0.01	.	20.0466	0.97609	0.0:1.0:0.0:0.0	.	1840	Q9HCE0	EPG5_HUMAN	I	1840;715	ENSP00000282041:S1840I	ENSP00000282041:S1840I	S	-	2	0	EPG5	41714186	1.000000	0.71417	0.995000	0.50966	0.009000	0.06853	7.048000	0.76606	2.729000	0.93468	0.563000	0.77884	AGC	.		0.547	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	Missense_Mutation
ESPN	83715	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	6520166	6520166	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr1:6520166G>T	ENST00000377828.1	+	13	2693	c.2525G>T	c.(2524-2526)cGa>cTa	p.R842L	ESPN_ENST00000416731.1_Missense_Mutation_p.R276L|ESPN_ENST00000461727.1_Missense_Mutation_p.R276L	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	842					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CCCTGGCAGCGACAGGTCATC	0.657																																					p.R842L		.											.	ESPN	514	0			c.G2525T						.						46.0	47.0	47.0					1																	6520166		2203	4300	6503	SO:0001583	missense	83715	exon13			GGCAGCGACAGGT	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.2525G>T	1.37:g.6520166G>T	ENSP00000367059:p.Arg842Leu	164.0	0.0		203.0	38.0	NM_031475	Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	ENST00000377828.1	37	CCDS70.1	.	.	.	.	.	.	.	.	.	.	g	26.2	4.712101	0.89112	.	.	ENSG00000187017	ENST00000377828;ENST00000416731	D;D	0.87887	-2.31;-2.31	4.32	4.32	0.51571	.	0.470861	0.18767	N	0.131731	D	0.90631	0.7062	M	0.67953	2.075	0.32685	N	0.514916	D;D	0.57571	0.98;0.98	P;P	0.56343	0.736;0.796	D	0.93084	0.6494	10	0.72032	D	0.01	-6.5359	14.3356	0.66586	0.0:0.0:1.0:0.0	.	276;842	B1AK53-2;B1AK53	.;ESPN_HUMAN	L	842;276	ENSP00000367059:R842L;ENSP00000399239:R276L	ENSP00000367059:R842L	R	+	2	0	ESPN	6442753	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.036000	0.70948	1.945000	0.56424	0.450000	0.29827	CGA	.		0.657	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475	
EXOC4	60412	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	133314872	133314872	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr7:133314872G>T	ENST00000253861.4	+	10	1521	c.1492G>T	c.(1492-1494)Gtc>Ttc	p.V498F	EXOC4_ENST00000460346.1_3'UTR|EXOC4_ENST00000545148.1_Missense_Mutation_p.V108F|EXOC4_ENST00000539845.1_Missense_Mutation_p.V397F	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	498					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AAACATTACCGTCATATTCCA	0.368																																					p.V498F		.											.	EXOC4	159	0			c.G1492T						.						123.0	118.0	120.0					7																	133314872		2203	4300	6503	SO:0001583	missense	60412	exon10			ATTACCGTCATAT	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1492G>T	7.37:g.133314872G>T	ENSP00000253861:p.Val498Phe	184.0	0.0		140.0	21.0	NM_021807	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.706842	0.30232	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148	.	.	.	6.03	4.24	0.50183	.	0.140692	0.47852	D	0.000209	T	0.44477	0.1295	L	0.48642	1.525	0.80722	D	1	B;P;P	0.44877	0.01;0.845;0.664	B;P;B	0.44921	0.017;0.464;0.195	T	0.26503	-1.0101	9	0.15066	T	0.55	.	7.4852	0.27427	0.3458:0.0:0.6542:0.0	.	30;108;498	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	F	498;117;397;108	.	ENSP00000253861:V498F	V	+	1	0	EXOC4	132965412	1.000000	0.71417	0.860000	0.33809	0.866000	0.49608	4.254000	0.58798	0.893000	0.36288	0.655000	0.94253	GTC	.		0.368	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807	
GFM2	84340	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	74047313	74047313	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr5:74047313C>T	ENST00000296805.3	-	6	767	c.310G>A	c.(310-312)Gat>Aat	p.D104N	GFM2_ENST00000509430.1_Missense_Mutation_p.D104N|GFM2_ENST00000427854.2_Missense_Mutation_p.D104N|GFM2_ENST00000345239.2_Missense_Mutation_p.D104N	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TCTCCATCATCAACATCTAGC	0.383																																					p.D104N		.											.	GFM2	90	0			c.G310A						.						172.0	163.0	166.0					5																	74047313		2203	4300	6503	SO:0001583	missense	84340	exon6			CATCATCAACATC	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.310G>A	5.37:g.74047313C>T	ENSP00000296805:p.Asp104Asn	168.0	0.0		188.0	24.0	NM_032380		Missense_Mutation	SNP	ENST00000296805.3	37	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024543	0.93518	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430;ENST00000427854;ENST00000506778	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	5.84	4.98	0.66077	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.088118	0.85682	D	0.000000	D	0.88306	0.6401	M	0.89601	3.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77557	0.982;0.99;0.99;0.99	D	0.90761	0.4665	10	0.87932	D	0	-20.5045	14.9609	0.71156	0.0:0.9316:0.0:0.0684	.	104;104;104;104	Q969S9-3;Q969S9-5;Q969S9-2;Q969S9	.;.;.;RRF2M_HUMAN	N	104;104;104;104;104;29	ENSP00000296805:D104N;ENSP00000296804:D104N;ENSP00000427004:D104N;ENSP00000405808:D104N;ENSP00000424877:D29N	ENSP00000296805:D104N	D	-	1	0	GFM2	74083069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.691000	0.84191	1.474000	0.48178	0.650000	0.86243	GAT	.		0.383	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380	
GNRH2	2797	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	3025397	3025397	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr20:3025397C>T	ENST00000245983.2	+	3	278	c.227C>T	c.(226-228)cCc>cTc	p.P76L	MRPS26_ENST00000380325.3_5'Flank|GNRH2_ENST00000359100.2_Missense_Mutation_p.P69L|GNRH2_ENST00000359987.1_Missense_Mutation_p.P68L|GNRH2_ENST00000380346.2_Missense_Mutation_p.P68L|GNRH2_ENST00000380347.2_Missense_Mutation_p.P69L	NM_001501.1	NP_001492.1	O43555	GON2_HUMAN	gonadotropin-releasing hormone 2	76					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			ovary(1)|upper_aerodigestive_tract(1)	2						GCCCTGGCTCCCCTGGACGAC	0.642																																					p.P76L		.											.	GNRH2	90	0			c.C227T						.						36.0	34.0	35.0					20																	3025397		2201	4300	6501	SO:0001583	missense	2797	exon3			TGGCTCCCCTGGA	AF036329	CCDS13040.1, CCDS13041.1, CCDS13042.1	20p13	2013-02-26			ENSG00000125787	ENSG00000125787		"""Endogenous ligands"""	4420	protein-coding gene	gene with protein product		602352				9419371, 12447356	Standard	NM_178331		Approved		uc002whr.1	O43555	OTTHUMG00000031723	ENST00000245983.2:c.227C>T	20.37:g.3025397C>T	ENSP00000245983:p.Pro76Leu	96.0	0.0		110.0	12.0	NM_001501	Q14C68|Q14C69|Q9BYN9|Q9BYP0	Missense_Mutation	SNP	ENST00000245983.2	37	CCDS13040.1	.	.	.	.	.	.	.	.	.	.	C	3.326	-0.137718	0.06711	.	.	ENSG00000125787	ENST00000245983;ENST00000359100;ENST00000359987;ENST00000380347;ENST00000380346	T;T;T;T;T	0.52295	0.77;0.75;0.67;0.75;0.67	4.38	-5.1	0.02911	.	1.743350	0.03660	N	0.242458	T	0.24967	0.0606	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.06917	-1.0800	10	0.32370	T	0.25	.	2.5	0.04631	0.111:0.331:0.325:0.2331	.	76;68;69	O43555;O43555-2;O43555-3	GON2_HUMAN;.;.	L	76;69;68;69;68	ENSP00000245983:P76L;ENSP00000352003:P69L;ENSP00000353077:P68L;ENSP00000369705:P69L;ENSP00000369704:P68L	ENSP00000245983:P76L	P	+	2	0	GNRH2	2973397	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.227000	0.02950	-1.051000	0.03226	-1.966000	0.00469	CCC	.		0.642	GNRH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077694.2	NM_001501	
GOSR2	9570	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	45017921	45017921	+	IGR	SNP	G	G	T	rs147434599		TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr17:45017921G>T	ENST00000393456.2	+	0	847				GOSR2_ENST00000439730.2_Intron|GOSR2_ENST00000225567.4_Splice_Site_p.G195V|RP11-156P1.2_ENST00000571841.1_Intron	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			TGTCCCCCAGGCACCCAAGGA	0.577																																					p.G195V		.											.	GOSR2	92	0			c.G584T						.						135.0	128.0	130.0					17																	45017921		2203	4300	6503	SO:0001628	intergenic_variant	9570	exon7			CCCCAGGCACCCA	AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653			17.37:g.45017921G>T		31.0	0.0		56.0	17.0	NM_054022	D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Missense_Mutation	SNP	ENST00000393456.2	37	CCDS42355.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.994802	0.35226	.	.	ENSG00000108433	ENST00000225567	D	0.82255	-1.59	4.15	1.12	0.20585	.	0.236625	0.42964	D	0.000630	D	0.84170	0.5413	L	0.56340	1.77	0.09310	N	0.999999	D	0.63880	0.993	P	0.62740	0.906	T	0.73251	-0.4042	9	.	.	.	.	6.0972	0.20027	0.3186:0.0:0.6814:0.0	.	195	O14653-2	.	V	195	ENSP00000225567:G195V	.	G	+	2	0	GOSR2	42372920	0.001000	0.12720	0.005000	0.12908	0.008000	0.06430	0.157000	0.16402	0.314000	0.23086	-0.258000	0.10820	GGC	G|0.999;C|0.001		0.577	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440438.1		
GRAP2	9402	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	40343142	40343142	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr22:40343142C>A	ENST00000344138.4	+	2	295	c.32C>A	c.(31-33)gCt>gAt	p.A11D	GRAP2_ENST00000543252.1_Missense_Mutation_p.A11D|GRAP2_ENST00000407075.3_Missense_Mutation_p.A11D|GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000478445.1_Intron|GRAP2_ENST00000544756.1_5'UTR|GRAP2_ENST00000540310.1_Intron	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	11	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GATTTCACTGCTTCAGGTGAG	0.502																																					p.A11D		.											.	GRAP2	227	0			c.C32A						.						192.0	172.0	179.0					22																	40343142		2203	4300	6503	SO:0001583	missense	9402	exon2			TCACTGCTTCAGG	AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.32C>A	22.37:g.40343142C>A	ENSP00000339186:p.Ala11Asp	338.0	0.0		263.0	68.0	NM_004810	B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802409	0.90538	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000420971;ENST00000407075	T;T;T;T	0.58940	1.11;0.3;0.3;1.11	5.65	5.65	0.86999	Src homology-3 domain (4);	0.148621	0.64402	D	0.000011	D	0.83339	0.5233	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.87997	0.2753	10	0.87932	D	0	-29.0893	16.6526	0.85220	0.0:1.0:0.0:0.0	.	11;11	Q6FI14;O75791	.;GRAP2_HUMAN	D	11	ENSP00000339186:A11D;ENSP00000446350:A11D;ENSP00000396355:A11D;ENSP00000385607:A11D	ENSP00000339186:A11D	A	+	2	0	GRAP2	38673088	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.883000	0.63128	2.660000	0.90430	0.557000	0.71058	GCT	.		0.502	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810	
GRHL2	79977	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	102611376	102611376	+	Silent	SNP	G	G	A	rs267601683		TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr8:102611376G>A	ENST00000251808.3	+	8	1433	c.1095G>A	c.(1093-1095)gcG>gcA	p.A365A	GRHL2_ENST00000395927.1_Silent_p.A349A	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	365					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ATGAAGAGGCGAAGGTGAGTG	0.378																																					p.A365A		.											.	GRHL2	93	0			c.G1095A						.						99.0	91.0	94.0					8																	102611376		2203	4300	6503	SO:0001819	synonymous_variant	79977	exon8			AGAGGCGAAGGTG	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.1095G>A	8.37:g.102611376G>A		304.0	0.0		298.0	60.0	NM_024915	A1L303|Q6NT03|Q9H8B8	Silent	SNP	ENST00000251808.3	37	CCDS34931.1																																																																																			.		0.378	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915	
HDAC9	9734	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	18633535	18633535	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr7:18633535G>A	ENST00000432645.2	+	5	538	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	HDAC9_ENST00000524023.1_Missense_Mutation_p.A147T|HDAC9_ENST00000401921.1_Missense_Mutation_p.A183T|HDAC9_ENST00000406451.4_Missense_Mutation_p.A180T|HDAC9_ENST00000405010.3_Missense_Mutation_p.A180T|HDAC9_ENST00000456174.2_Missense_Mutation_p.A152T|HDAC9_ENST00000417496.2_Missense_Mutation_p.A222T|HDAC9_ENST00000406072.1_Missense_Mutation_p.A211T|HDAC9_ENST00000441542.2_Missense_Mutation_p.A183T|HDAC9_ENST00000428307.2_Missense_Mutation_p.A180T	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	180	Interaction with MAPK10. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTCTAGGGCTGCCCACCACAC	0.448																																					p.A222T		.											.	HDAC9	227	0			c.G664A						.						196.0	189.0	192.0					7																	18633535		1978	4147	6125	SO:0001583	missense	9734	exon8			AGGGCTGCCCACC	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.538G>A	7.37:g.18633535G>A	ENSP00000410337:p.Ala180Thr	216.0	0.0		146.0	23.0	NM_001204144	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547390	0.45383	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.57752	0.96;0.98;0.38;0.99;0.97;0.39;0.38;0.38;0.98;0.94	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000008	T	0.62816	0.2459	L	0.31120	0.905	0.53005	D	0.999968	P;P;D;B;D;P;D;D;P;D;D;P;D	0.69078	0.851;0.954;0.975;0.02;0.958;0.851;0.975;0.975;0.533;0.997;0.975;0.946;0.958	B;P;P;B;B;B;P;P;B;D;P;P;B	0.77004	0.297;0.541;0.591;0.021;0.441;0.297;0.591;0.591;0.123;0.989;0.591;0.592;0.386	T	0.51834	-0.8655	10	0.17832	T	0.49	-13.9477	20.8794	0.99867	0.0:0.0:1.0:0.0	.	147;152;180;211;222;183;183;183;180;152;180;180;202	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	T	222;225;180;180;180;211;183;180;183;152;147;180	ENSP00000401669:A222T;ENSP00000384382:A180T;ENSP00000384657:A180T;ENSP00000395655:A180T;ENSP00000384017:A211T;ENSP00000383912:A183T;ENSP00000410337:A180T;ENSP00000408617:A183T;ENSP00000388568:A152T;ENSP00000430036:A147T	ENSP00000262069:A225T	A	+	1	0	HDAC9	18600060	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.018000	0.64054	2.941000	0.99782	0.655000	0.94253	GCC	.		0.448	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		
IVNS1ABP	10625	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	185274712	185274712	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr1:185274712C>A	ENST00000367498.3	-	8	1343	c.721G>T	c.(721-723)Gct>Tct	p.A241S	IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.A23S|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	241	Sufficient for AHR interaction and signaling.				negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						AACACCTCAGCCTGTCCATCT	0.453																																					p.A241S		.											.	IVNS1ABP	94	0			c.G721T						.						191.0	157.0	168.0					1																	185274712		2203	4300	6503	SO:0001583	missense	10625	exon8			CCTCAGCCTGTCC	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.721G>T	1.37:g.185274712C>A	ENSP00000356468:p.Ala241Ser	259.0	0.0		297.0	106.0	NM_006469	A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	C	8.607	0.888224	0.17540	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	T;T	0.75704	-0.96;-0.56	5.57	5.57	0.84162	.	0.147379	0.64402	D	0.000009	T	0.54532	0.1864	N	0.14661	0.345	0.46260	D	0.998957	B;B	0.14438	0.01;0.01	B;B	0.15052	0.012;0.005	T	0.51537	-0.8693	10	0.07325	T	0.83	.	12.8374	0.57782	0.0:0.9256:0.0:0.0744	.	23;241	A8MVR0;Q9Y6Y0	.;NS1BP_HUMAN	S	241;23	ENSP00000356468:A241S;ENSP00000375864:A23S	ENSP00000356468:A241S	A	-	1	0	IVNS1ABP	183541335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.597000	0.54031	2.614000	0.88457	0.557000	0.71058	GCT	.		0.453	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469	
KIAA1328	57536	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	34647292	34647292	+	Missense_Mutation	SNP	G	G	C	rs531868906		TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr18:34647292G>C	ENST00000280020.5	+	7	1038	c.1016G>C	c.(1015-1017)cGg>cCg	p.R339P	KIAA1328_ENST00000586501.1_Missense_Mutation_p.R55P|KIAA1328_ENST00000591619.1_Missense_Mutation_p.R335P|KIAA1328_ENST00000435985.2_Missense_Mutation_p.R55P|KIAA1328_ENST00000586135.1_Missense_Mutation_p.R55P|KIAA1328_ENST00000543923.1_Missense_Mutation_p.R231P	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	339										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		AGTTATTGTCGGCTTTCTTGG	0.463																																					p.R339P		.											.	KIAA1328	90	0			c.G1016C						.						94.0	89.0	91.0					18																	34647292		2050	4208	6258	SO:0001583	missense	57536	exon7			ATTGTCGGCTTTC	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.1016G>C	18.37:g.34647292G>C	ENSP00000280020:p.Arg339Pro	538.0	0.0		435.0	68.0	NM_020776	Q05DL0|Q49AG6|Q9P2L8	Missense_Mutation	SNP	ENST00000280020.5	37	CCDS45855.1	.	.	.	.	.	.	.	.	.	.	G	8.834	0.940660	0.18281	.	.	ENSG00000150477	ENST00000543923;ENST00000280020;ENST00000383055;ENST00000435985	T;T;T	0.50277	0.75;0.75;0.75	6.17	3.25	0.37280	.	0.649434	0.16451	N	0.213853	T	0.35219	0.0924	L	0.34521	1.04	0.25823	N	0.98426	P;B;B;P	0.34757	0.467;0.195;0.195;0.467	B;B;B;B	0.38880	0.197;0.128;0.263;0.284	T	0.14172	-1.0482	10	0.28530	T	0.3	.	6.6411	0.22909	0.1392:0.0:0.6337:0.2272	.	55;339;55;339	Q86T90-4;A8K8C3;Q86T90-3;Q86T90	.;.;.;K1328_HUMAN	P	231;339;339;55	ENSP00000441359:R231P;ENSP00000280020:R339P;ENSP00000390515:R55P	ENSP00000280020:R339P	R	+	2	0	KIAA1328	32901290	0.731000	0.28111	1.000000	0.80357	0.601000	0.36947	0.710000	0.25748	1.635000	0.50512	0.655000	0.94253	CGG	.		0.463	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776	
KIAA1551	55196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	12	32137832	32137832	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr12:32137832G>T	ENST00000312561.4	+	4	4357	c.3943G>T	c.(3943-3945)Gaa>Taa	p.E1315*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1315																	AGCATCTTATGAACAAGCTTC	0.338																																					p.E1315X		.											.	.	.	0			c.G3943T						.						82.0	85.0	84.0					12																	32137832		2203	4300	6503	SO:0001587	stop_gained	55196	exon4			TCTTATGAACAAG	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3943G>T	12.37:g.32137832G>T	ENSP00000310338:p.Glu1315*	118.0	0.0		153.0	20.0	NM_018169	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Nonsense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	43	10.299438	0.99378	.	.	ENSG00000174718	ENST00000312561	.	.	.	3.99	1.03	0.20045	.	0.844950	0.10220	N	0.701071	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7252	0.23353	0.4378:0.0:0.5622:0.0	.	.	.	.	X	1315	.	.	E	+	1	0	C12orf35	32029099	0.279000	0.24239	0.001000	0.08648	0.145000	0.21501	1.027000	0.30115	0.148000	0.19059	-0.253000	0.11424	GAA	.		0.338	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169	
KIF21A	55605	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	39726715	39726715	+	Silent	SNP	C	C	G			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr12:39726715C>G	ENST00000361418.5	-	19	2697	c.2682G>C	c.(2680-2682)acG>acC	p.T894T	KIF21A_ENST00000361961.3_Silent_p.T881T|KIF21A_ENST00000544797.2_Silent_p.T881T|KIF21A_ENST00000395670.3_Silent_p.T894T|KIF21A_ENST00000541463.2_Silent_p.T858T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	894					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTGTTGCCGGCGTTGGTAAGG	0.458																																					p.T894T		.											.	KIF21A	97	0			c.G2682C						.						70.0	72.0	71.0					12																	39726715		2203	4300	6503	SO:0001819	synonymous_variant	55605	exon19			TGCCGGCGTTGGT	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2682G>C	12.37:g.39726715C>G		177.0	0.0		187.0	37.0	NM_001173464	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.426334	0.01117	.	.	ENSG00000139116	ENST00000552961	.	.	.	5.58	-11.2	0.00127	.	.	.	.	.	T	0.24236	0.0587	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.17561	-1.0365	4	.	.	.	.	9.0399	0.36311	0.1905:0.0738:0.0656:0.6701	.	.	.	.	P	242	.	.	R	-	2	0	KIF21A	38012982	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-1.244000	0.02902	-2.383000	0.00592	-0.484000	0.04775	CGC	.		0.458	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	
KRT33B	3884	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	39522752	39522752	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr17:39522752C>A	ENST00000251646.3	-	3	607	c.558G>T	c.(556-558)gaG>gaT	p.E186D		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	186	Coil 1B.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GGGACAGCAGCTCCTCCTTCA	0.562																																					p.E186D		.											.	KRT33B	90	0			c.G558T						.						72.0	70.0	71.0					17																	39522752		2191	4300	6491	SO:0001583	missense	3884	exon3			CAGCAGCTCCTCC	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.558G>T	17.37:g.39522752C>A	ENSP00000251646:p.Glu186Asp	128.0	0.0		95.0	19.0	NM_002279	O76010	Missense_Mutation	SNP	ENST00000251646.3	37	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	c	16.08	3.022491	0.54683	.	.	ENSG00000131738	ENST00000251646	D	0.92249	-3.0	4.51	3.53	0.40419	Filament (1);	0.000000	0.64402	D	0.000004	D	0.92371	0.7579	M	0.76328	2.33	0.28712	N	0.903508	P	0.36125	0.538	B	0.43838	0.433	D	0.87459	0.2406	10	0.49607	T	0.09	.	11.4448	0.50116	0.0:0.8395:0.0:0.1605	.	186	Q14525	KT33B_HUMAN	D	186	ENSP00000251646:E186D	ENSP00000251646:E186D	E	-	3	2	KRT33B	36776278	0.998000	0.40836	0.997000	0.53966	0.912000	0.54170	0.636000	0.24644	0.654000	0.30846	-1.134000	0.01955	GAG	.		0.562	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279	
KRT5	3852	broad.mit.edu;ucsc.edu;mdanderson.org	37	12	52910560	52910560	+	Nonsense_Mutation	SNP	C	C	A	rs267607434		TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr12:52910560C>A	ENST00000252242.4	-	7	1690	c.1300G>T	c.(1300-1302)Gag>Tag	p.E434*		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	434	Coil 2.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCTCCAGCTCGGCCAGCTTG	0.617																																					p.E434X		.											.	KRT5	90	0			c.G1300T						.						91.0	82.0	85.0					12																	52910560		2203	4300	6503	SO:0001587	stop_gained	3852	exon7			CCAGCTCGGCCAG		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1300G>T	12.37:g.52910560C>A	ENSP00000252242:p.Glu434*	206.0	1.0		202.0	28.0	NM_000424	Q6PI71|Q6UBJ0|Q8TA91	Nonsense_Mutation	SNP	ENST00000252242.4	37	CCDS8830.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.750569|4.750569	0.89753|0.89753	.|.	.|.	ENSG00000186081|ENSG00000186081	ENST00000252242;ENST00000456000|ENST00000548409	.|.	.|.	.|.	5.93|5.93	5.03|5.03	0.67393|0.67393	.|.	0.104769|.	0.42420|.	D|.	0.000719|.	.|T	.|0.73385	.|0.3580	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73786	.|-0.3873	.|3	0.72032|.	D|.	0.01|.	.|.	17.3707|17.3707	0.87376|0.87376	0.0:0.8754:0.1246:0.0|0.0:0.8754:0.1246:0.0	.|.	.|.	.|.	.|.	X|L	434;399|141	.|.	ENSP00000252242:E434X|.	E|R	-|-	1|2	0|0	KRT5|KRT5	51196827|51196827	1.000000|1.000000	0.71417|0.71417	0.869000|0.869000	0.34112|0.34112	0.882000|0.882000	0.50991|0.50991	5.928000|5.928000	0.70088|0.70088	1.484000|1.484000	0.48361|0.48361	0.655000|0.655000	0.94253|0.94253	GAG|CGA	.		0.617	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1		
KRTAP19-4	337971	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	31869199	31869199	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr21:31869199C>A	ENST00000334058.2	-	1	252	c.230G>T	c.(229-231)aGa>aTa	p.R77I		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	77						intermediate filament (GO:0005882)				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATTGAATGATCTTCTTATGAC	0.373																																					p.R77I		.											.	KRTAP19-4	70	0			c.G230T						.						175.0	173.0	174.0					21																	31869199		2203	4300	6503	SO:0001583	missense	337971	exon1			AATGATCTTCTTA	AP001708	CCDS33534.1	21q22.1	2011-02-10			ENSG00000186967	ENSG00000186967		"""Keratin associated proteins"""	18939	protein-coding gene	gene with protein product						12359730	Standard	NM_181610		Approved	KAP19.4	uc011acz.2	Q3LI73	OTTHUMG00000057767	ENST00000334058.2:c.230G>T	21.37:g.31869199C>A	ENSP00000335567:p.Arg77Ile	250.0	0.0		239.0	32.0	NM_181610	Q17RT4|Q17RT6	Missense_Mutation	SNP	ENST00000334058.2	37	CCDS33534.1	.	.	.	.	.	.	.	.	.	.	C	6.342	0.431173	0.12045	.	.	ENSG00000186967	ENST00000334058	T	0.21361	2.01	3.72	-0.509	0.11977	.	.	.	.	.	T	0.16342	0.0393	.	.	.	0.09310	N	1	P	0.52316	0.952	B	0.41571	0.36	T	0.15809	-1.0424	8	0.87932	D	0	.	6.3611	0.21429	0.0:0.4322:0.0:0.5678	.	77	Q3LI73	KR194_HUMAN	I	77	ENSP00000335567:R77I	ENSP00000335567:R77I	R	-	2	0	KRTAP19-4	30791070	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.249000	0.08842	-0.100000	0.12241	0.543000	0.68304	AGA	.		0.373	KRTAP19-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128219.2		
L3MBTL4	91133	ucsc.edu;bcgsc.ca	37	18	6138293	6138293	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr18:6138293T>C	ENST00000284898.6	-	14	1299	c.1099A>G	c.(1099-1101)Acg>Gcg	p.T367A	L3MBTL4_ENST00000535782.1_Missense_Mutation_p.T180A|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.T367A|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.T367A|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.T367A	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	367					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				AGGTCATTCGTTCCTTCAGGA	0.428																																					p.T367A	Esophageal Squamous(41;748 902 17366 28959 43175)	.											.	L3MBTL4	93	0			c.A1099G						.						56.0	48.0	51.0					18																	6138293		2203	4300	6503	SO:0001583	missense	91133	exon14			CATTCGTTCCTTC	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1099A>G	18.37:g.6138293T>C	ENSP00000284898:p.Thr367Ala	44.0	0.0		42.0	4.0	NM_173464	A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	T	7.017	0.557909	0.13436	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	4.82	-0.532	0.11890	.	1.429300	0.04391	N	0.362488	T	0.09818	0.0241	N	0.02247	-0.625	0.18873	N	0.999985	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.15549	-1.0433	10	0.07990	T	0.79	.	0.9427	0.01358	0.3184:0.3477:0.1459:0.188	.	367;367	Q8NA19;F8W9S8	LMBL4_HUMAN;.	A	367;367;367;180;367	ENSP00000382976:T367A;ENSP00000318543:T367A;ENSP00000284898:T367A;ENSP00000444774:T180A;ENSP00000382975:T367A	ENSP00000284898:T367A	T	-	1	0	L3MBTL4	6128293	0.306000	0.24490	0.917000	0.36280	0.820000	0.46376	-0.688000	0.05150	-0.477000	0.06832	-1.007000	0.02485	ACG	.		0.428	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464	
LCOR	84458	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	98715171	98715171	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr10:98715171delG	ENST00000371097.4	+	8	1340	c.794delG	c.(793-795)tggfs	p.W265fs	LCOR_ENST00000540664.1_Frame_Shift_Del_p.W265fs|LCOR_ENST00000356016.3_Frame_Shift_Del_p.W265fs|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000371103.3_Frame_Shift_Del_p.W265fs			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	265					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		GATCTTTCTTGGGAGTCTCGC	0.408																																					p.W265fs		.											.	LCOR	189	0			c.794delG						.						82.0	85.0	84.0					10																	98715171		2203	4300	6503	SO:0001589	frameshift_variant	84458	exon8			TTTCTTGGGAGTC		CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.794delG	10.37:g.98715171delG	ENSP00000360138:p.Trp265fs	157.0	0.0		138.0	23.0	NM_001170766	D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Frame_Shift_Del	DEL	ENST00000371097.4	37	CCDS7451.1																																																																																			.		0.408	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2		
LDLR	3949	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	11213382	11213382	+	Missense_Mutation	SNP	G	G	T	rs146675823		TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr19:11213382G>T	ENST00000558518.1	+	3	420	c.233G>T	c.(232-234)cGt>cTt	p.R78L	LDLR_ENST00000557933.1_Missense_Mutation_p.R78L|LDLR_ENST00000455727.2_Missense_Mutation_p.R78L|LDLR_ENST00000535915.1_Intron|LDLR_ENST00000558013.1_Missense_Mutation_p.R78L|LDLR_ENST00000545707.1_Missense_Mutation_p.R78L	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	78	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.		R -> C (in FH).		cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	TGTGGGGGCCGTGTCAACCGC	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		19169	0.0		0.0	False		,,,				2504	0.001				p.R78L	GBM(18;201 575 7820 21545)	.											.	LDLR	94	1	Unknown(1)	lung(1)	c.G233T						.						172.0	151.0	159.0					19																	11213382		2203	4300	6503	SO:0001583	missense	3949	exon3			GGGGCCGTGTCAA	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.233G>T	19.37:g.11213382G>T	ENSP00000454071:p.Arg78Leu	230.0	0.0		230.0	44.0	NM_001195800	B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805102	0.70682	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000455727	D;D	0.91407	-2.84;-2.84	5.65	1.11	0.20524	.	0.118981	0.35677	N	0.003043	D	0.92961	0.7760	M	0.79614	2.46	0.43745	D	0.996243	B;B;P;D	0.76494	0.038;0.0;0.895;0.999	B;B;P;D	0.77557	0.033;0.006;0.793;0.99	D	0.88835	0.3308	10	0.22109	T	0.4	.	7.6124	0.28137	0.1636:0.0:0.7106:0.1258	.	78;78;90;78	B4DR00;B4DJZ8;Q59FQ1;P01130	.;.;.;LDLR_HUMAN	L	78	ENSP00000437639:R78L;ENSP00000397829:R78L	ENSP00000252444:R78L	R	+	2	0	LDLR	11074382	0.463000	0.25799	0.124000	0.21820	0.944000	0.59088	1.497000	0.35649	0.054000	0.16065	0.591000	0.81541	CGT	G|1.000;A|0.000		0.567	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2		
LONP2	83752	ucsc.edu;bcgsc.ca	37	16	48286049	48286049	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr16:48286049A>G	ENST00000285737.4	+	2	334	c.241A>G	c.(241-243)Aca>Gca	p.T81A	LONP2_ENST00000535754.1_Missense_Mutation_p.T81A	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CAGGATTGGCACAGCTGCACT	0.448																																					p.T81A		.											.	LONP2	90	0			c.A241G						.						59.0	50.0	53.0					16																	48286049		2200	4300	6500	SO:0001583	missense	83752	exon2			ATTGGCACAGCTG	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.241A>G	16.37:g.48286049A>G	ENSP00000285737:p.Thr81Ala	62.0	0.0		58.0	6.0	NM_031490		Missense_Mutation	SNP	ENST00000285737.4	37	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	A	19.32	3.804569	0.70682	.	.	ENSG00000102910	ENST00000285737;ENST00000535754;ENST00000416006	T;T;T	0.55413	0.52;0.52;0.52	5.29	5.29	0.74685	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.100339	0.64402	D	0.000002	T	0.58104	0.2099	M	0.78049	2.395	0.80722	D	1	B;B	0.23735	0.09;0.09	B;B	0.27608	0.081;0.081	T	0.61456	-0.7059	10	0.87932	D	0	-19.6251	15.5312	0.75964	1.0:0.0:0.0:0.0	.	81;81	B7ZKL7;Q86WA8	.;LONP2_HUMAN	A	81	ENSP00000285737:T81A;ENSP00000445426:T81A;ENSP00000415983:T81A	ENSP00000285737:T81A	T	+	1	0	LONP2	46843550	1.000000	0.71417	0.995000	0.50966	0.856000	0.48823	9.242000	0.95408	2.131000	0.65755	0.528000	0.53228	ACA	.		0.448	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490	
LRRC4C	57689	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	40137653	40137653	+	Silent	SNP	G	G	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr11:40137653G>T	ENST00000278198.2	-	2	2153	c.190C>A	c.(190-192)Cgg>Agg	p.R64R	LRRC4C_ENST00000530763.1_Silent_p.R64R|LRRC4C_ENST00000527150.1_Silent_p.R64R|LRRC4C_ENST00000528697.1_Silent_p.R64R			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	64	LRRNT.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGGTTTTTCCGAACACAAATC	0.532																																					p.R64R		.											.	LRRC4C	521	0			c.C190A						.						86.0	74.0	78.0					11																	40137653		2203	4300	6503	SO:0001819	synonymous_variant	57689	exon7			TTTTCCGAACACA	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.190C>A	11.37:g.40137653G>T		157.0	0.0		155.0	20.0	NM_001258419	A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	CCDS31464.1																																																																																			.		0.532	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929	
LTA4H	4048	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	96406996	96406996	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr12:96406996T>G	ENST00000228740.2	-	14	1490	c.1349A>C	c.(1348-1350)tAc>tCc	p.Y450S	RP11-256L6.3_ENST00000551849.1_RNA|LTA4H_ENST00000548375.1_5'UTR|LTA4H_ENST00000552789.1_Missense_Mutation_p.Y426S|LTA4H_ENST00000413268.2_Missense_Mutation_p.Y426S	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	450					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	TCCAGGAGAGTAGAGCCAGGC	0.393																																					p.Y450S		.											.	LTA4H	91	0			c.A1349C						.						103.0	96.0	99.0					12																	96406996		2203	4300	6503	SO:0001583	missense	4048	exon14			GGAGAGTAGAGCC	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.1349A>C	12.37:g.96406996T>G	ENSP00000228740:p.Tyr450Ser	166.0	1.0		171.0	24.0	NM_000895	B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	ENST00000228740.2	37	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.986450	0.35036	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	T;T;T	0.05025	3.51;3.51;3.51	5.69	3.07	0.35406	.	0.434821	0.26616	N	0.023399	T	0.12050	0.0293	M	0.89715	3.055	0.33574	D	0.599009	B;B;B	0.25904	0.067;0.054;0.137	B;B;B	0.24269	0.052;0.052;0.047	T	0.02498	-1.1150	10	0.38643	T	0.18	-3.7447	8.0477	0.30559	0.1304:0.0737:0.0:0.7959	.	426;426;450	P09960-3;F8VV40;P09960	.;.;LKHA4_HUMAN	S	450;426;426	ENSP00000228740:Y450S;ENSP00000449958:Y426S;ENSP00000395051:Y426S	ENSP00000228740:Y450S	Y	-	2	0	LTA4H	94931127	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	4.331000	0.59273	0.999000	0.39023	0.459000	0.35465	TAC	.		0.393	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895	
MAGEE2	139599	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	X	75004287	75004287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chrX:75004287C>T	ENST00000373359.2	-	1	792	c.600G>A	c.(598-600)tgG>tgA	p.W200*		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	200	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGCAAGTCCCAAATGGAGG	0.512																																					p.W200X		.											.	MAGEE2	132	0			c.G600A						.						67.0	61.0	63.0					X																	75004287		2203	4300	6503	SO:0001587	stop_gained	139599	exon1			CAAGTCCCAAATG	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.600G>A	X.37:g.75004287C>T	ENSP00000362457:p.Trp200*	69.0	0.0		110.0	26.0	NM_138703	Q5JSI5	Nonsense_Mutation	SNP	ENST00000373359.2	37	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.263087	0.39995	.	.	ENSG00000186675	ENST00000373359	.	.	.	3.1	2.21	0.28008	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1813	0.25774	0.0:0.7278:0.2722:0.0	.	.	.	.	X	200	.	ENSP00000362457:W200X	W	-	3	0	MAGEE2	74921012	1.000000	0.71417	0.289000	0.24876	0.026000	0.11368	1.172000	0.31908	0.664000	0.31047	0.422000	0.28245	TGG	.		0.512	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703	
MAST2	23139	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	46485312	46485312	+	Silent	SNP	G	G	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr1:46485312G>A	ENST00000361297.2	+	11	1516	c.1233G>A	c.(1231-1233)caG>caA	p.Q411Q	MAST2_ENST00000372009.2_Silent_p.Q341Q	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TTGTGATGCAGCTGGTGAAAA	0.507																																					p.Q411Q		.											.	MAST2	581	0			c.G1233A						.						88.0	87.0	87.0					1																	46485312		1976	4170	6146	SO:0001819	synonymous_variant	23139	exon11			GATGCAGCTGGTG	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1233G>A	1.37:g.46485312G>A		188.0	0.0		157.0	26.0	NM_015112		Silent	SNP	ENST00000361297.2	37	CCDS41326.1																																																																																			.		0.507	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112	
MC4R	4160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	58039123	58039123	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr18:58039123C>A	ENST00000299766.3	-	1	878	c.460G>T	c.(460-462)Gct>Tct	p.A154S		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	154					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TACTGGAGAGCATAGAAGATA	0.418																																					p.A154S		.											.	MC4R	522	0			c.G460T						.						93.0	83.0	86.0					18																	58039123		2203	4300	6503	SO:0001583	missense	4160	exon1			GGAGAGCATAGAA	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.460G>T	18.37:g.58039123C>A	ENSP00000299766:p.Ala154Ser	121.0	0.0		99.0	14.0	NM_005912	B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.823342	0.90873	.	.	ENSG00000166603	ENST00000299766	T	0.37584	1.19	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67524	0.2902	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.72956	-0.4134	10	0.87932	D	0	.	17.6572	0.88181	0.0:1.0:0.0:0.0	.	154	P32245	MC4R_HUMAN	S	154	ENSP00000299766:A154S	ENSP00000299766:A154S	A	-	1	0	MC4R	56190103	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.818000	0.86416	2.773000	0.95371	0.655000	0.94253	GCT	.		0.418	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912	
MECOM	2122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	168819859	168819859	+	Silent	SNP	G	G	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr3:168819859G>A	ENST00000464456.1	-	9	3369	c.2169C>T	c.(2167-2169)cgC>cgT	p.R723R	MECOM_ENST00000433243.2_Silent_p.R733R|MECOM_ENST00000472280.1_Silent_p.R733R|MECOM_ENST00000460814.1_Silent_p.R723R|MECOM_ENST00000392736.3_Silent_p.R732R|MECOM_ENST00000494292.1_Silent_p.R911R|MECOM_ENST00000264674.3_Silent_p.R797R|MECOM_ENST00000468789.1_Silent_p.R732R	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGCAGGTATAGCGCTCCTTTC	0.488																																					p.R920R		.											.	MECOM	853	0			c.C2760T						.						66.0	63.0	64.0					3																	168819859		2203	4300	6503	SO:0001819	synonymous_variant	2122	exon11			GGTATAGCGCTCC	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2169C>T	3.37:g.168819859G>A		172.0	0.0		153.0	24.0	NM_004991	Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	CCDS54669.1																																																																																			.		0.488	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991	
KMT2D	8085	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	49443882	49443882	+	Silent	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr12:49443882C>A	ENST00000301067.7	-	11	3488	c.3489G>T	c.(3487-3489)gtG>gtT	p.V1163V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1163	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCATAGGGGTCACAGGGGCCA	0.627																																					p.V1163V		.											.	MLL2	612	0			c.G3489T						.						53.0	58.0	56.0					12																	49443882		1942	4129	6071	SO:0001819	synonymous_variant	8085	exon11			AGGGGTCACAGGG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3489G>T	12.37:g.49443882C>A		124.0	0.0		157.0	23.0	NM_003482	O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																			.		0.627	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
MLST8	64223	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	2256103	2256103	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr16:2256103G>C	ENST00000569417.1	+	2	371	c.17G>C	c.(16-18)gGc>gCc	p.G6A	MLST8_ENST00000301724.10_Missense_Mutation_p.G6A|MLST8_ENST00000564088.1_Missense_Mutation_p.G6A|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000397124.1_Missense_Mutation_p.G6A|AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000382450.4_Missense_Mutation_p.G6A|MLST8_ENST00000565250.1_Missense_Mutation_p.G6A|MLST8_ENST00000301725.7_Missense_Mutation_p.G25A	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	6					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						ACCTCCCCAGGCACGGTGGGC	0.627																																					p.G6A		.											.	MLST8	392	0			c.G17C						.						75.0	81.0	79.0					16																	2256103		2056	4195	6251	SO:0001583	missense	64223	exon2			CCCCAGGCACGGT		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.17G>C	16.37:g.2256103G>C	ENSP00000456405:p.Gly6Ala	103.0	1.0		114.0	38.0	NM_001199174	B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Missense_Mutation	SNP	ENST00000569417.1	37	CCDS10462.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249921	0.80024	.	.	ENSG00000167965	ENST00000382450;ENST00000301724;ENST00000397124;ENST00000301725	T;T;T;T	0.71698	-0.33;-0.07;-0.59;-0.27	5.11	5.11	0.69529	WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81230	0.4779	L	0.53561	1.675	0.80722	D	1	D;D;B	0.89917	1.0;0.999;0.059	D;D;B	0.91635	0.999;0.994;0.089	T	0.81217	-0.1033	10	0.46703	T	0.11	-47.05	17.0826	0.86603	0.0:0.0:1.0:0.0	.	6;25;6	B4E2R3;Q9BVC4-4;Q9BVC4	.;.;LST8_HUMAN	A	6;6;6;25	ENSP00000371888:G6A;ENSP00000301724:G6A;ENSP00000380313:G6A;ENSP00000301725:G25A	ENSP00000301724:G6A	G	+	2	0	MLST8	2196104	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	9.331000	0.96430	2.370000	0.80446	0.436000	0.28706	GGC	.		0.627	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372	
MSL1	339287	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	38289863	38289868	+	In_Frame_Del	DEL	CAGGAA	CAGGAA	-			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	CAGGAA	CAGGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr17:38289863_38289868delCAGGAA	ENST00000398532.4	+	7	1948_1953	c.1633_1638delCAGGAA	c.(1633-1638)caggaadel	p.QE545del	MSL1_ENST00000578648.1_In_Frame_Del_p.QE529del|MSL1_ENST00000579565.1_In_Frame_Del_p.QE282del	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	545					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						GAAAGGAATTCAGGAATCTGAGCCTG	0.413																																					p.282_283del		.											.	MSL1	68	0			c.844_849del						.																																			SO:0001651	inframe_deletion	339287	exon8			GGAATTCAGGAAT		CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.1633_1638delCAGGAA	17.37:g.38289863_38289868delCAGGAA	ENSP00000381543:p.Gln545_Glu546del	129.0	0.0		104.0	17.0	NM_001012241	Q0VF46|Q69Z03	In_Frame_Del	DEL	ENST00000398532.4	37																																																																																				.		0.413	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	NM_001012241	
MTMR4	9110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	56582859	56582859	+	Silent	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr17:56582859C>A	ENST00000323456.5	-	11	1201	c.1077G>T	c.(1075-1077)gtG>gtT	p.V359V	MTMR4_ENST00000579925.1_Silent_p.V359V	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	359	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTGGCTACACACAGCCCGGA	0.493																																					p.V359V		.											.	MTMR4	91	0			c.G1077T						.						123.0	104.0	110.0					17																	56582859		2203	4300	6503	SO:0001819	synonymous_variant	9110	exon11			GCTACACACAGCC	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1077G>T	17.37:g.56582859C>A		121.0	0.0		152.0	26.0	NM_004687	D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP	ENST00000323456.5	37	CCDS11608.1																																																																																			.		0.493	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687	
MTMR7	9108	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	17198946	17198946	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr8:17198946C>T	ENST00000180173.5	-	6	692	c.658G>A	c.(658-660)Gag>Aag	p.E220K	MTMR7_ENST00000521857.1_Missense_Mutation_p.E220K|MTMR7_ENST00000523571.1_5'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	220	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		AGCATCTGCTCGTCCTCTAGG	0.572																																					p.E220K		.											.	MTMR7	91	0			c.G658A						.						132.0	87.0	103.0					8																	17198946		2203	4300	6503	SO:0001583	missense	9108	exon6			TCTGCTCGTCCTC	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.658G>A	8.37:g.17198946C>T	ENSP00000180173:p.Glu220Lys	102.0	1.0		88.0	23.0	NM_004686	A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959262	0.92726	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.95238	-3.65;-3.65	4.94	4.06	0.47325	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.045491	0.85682	N	0.000000	D	0.97318	0.9123	H	0.94808	3.585	0.80722	D	1	P	0.42357	0.777	P	0.53490	0.727	D	0.98288	1.0512	10	0.87932	D	0	.	13.874	0.63643	0.0:0.9261:0.0:0.0739	.	220	Q9Y216	MTMR7_HUMAN	K	220	ENSP00000180173:E220K;ENSP00000429733:E220K	ENSP00000180173:E220K	E	-	1	0	MTMR7	17243317	1.000000	0.71417	0.902000	0.35471	0.918000	0.54935	7.590000	0.82653	1.450000	0.47717	0.563000	0.77884	GAG	.		0.572	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686	
MUTYH	4595	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	45795060	45795060	+	Missense_Mutation	SNP	C	C	A	rs374655042		TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr1:45795060C>A	ENST00000372098.3	-	16	1692	c.1559G>T	c.(1558-1560)cGc>cTc	p.R520L	MUTYH_ENST00000456914.2_Missense_Mutation_p.R495L|MUTYH_ENST00000372100.5_Missense_Mutation_p.R506L|MUTYH_ENST00000355498.2_Missense_Mutation_p.R495L|MUTYH_ENST00000372110.3_Missense_Mutation_p.R510L|MUTYH_ENST00000488731.2_Missense_Mutation_p.R190L|MUTYH_ENST00000448481.1_Missense_Mutation_p.R506L|MUTYH_ENST00000528013.2_Missense_Mutation_p.R509L|MUTYH_ENST00000354383.6_Missense_Mutation_p.R496L|MUTYH_ENST00000372104.1_Missense_Mutation_p.R495L|MUTYH_ENST00000450313.1_Missense_Mutation_p.R523L|MUTYH_ENST00000531105.1_Silent_p.P55P|MUTYH_ENST00000372115.3_Missense_Mutation_p.R509L|MUTYH_ENST00000528332.2_Missense_Mutation_p.R204L|MUTYH_ENST00000529984.1_Missense_Mutation_p.R190L			Q9UIF7	MUTYH_HUMAN	mutY homolog	520					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTGGCCCATGCGGGGCTTTTT	0.562			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																												p.R523L		.	yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	.	MUTYH	1083	0			c.G1568T						.						146.0	159.0	155.0					1																	45795060		2203	4300	6503	SO:0001583	missense	4595	exon16	Familial Cancer Database	MAP, MYH-associated polyposis	CCCATGCGGGGCT	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.1559G>T	1.37:g.45795060C>A	ENSP00000361170:p.Arg520Leu	244.0	1.0		326.0	50.0	NM_001128425	D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	ENST00000372098.3	37	CCDS520.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.55|12.55	1.970299|1.970299	0.34754|0.34754	.|.	.|.	ENSG00000132781|ENSG00000132781	ENST00000529892|ENST00000529984;ENST00000528332;ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000488731;ENST00000450313;ENST00000372100	.|T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.67171	.|-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	4.42|4.42	2.53|2.53	0.30540|0.30540	.|.	.|0.637939	.|0.15934	.|N	.|0.237524	T|T	0.40839|0.40839	0.1133|0.1133	N|N	0.08118|0.08118	0|0	0.20563|0.20563	N|N	0.999886|0.999886	.|B;B;B;B;B;B;B;B	.|0.21520	.|0.001;0.001;0.001;0.019;0.001;0.011;0.002;0.057	.|B;B;B;B;B;B;B;B	.|0.14578	.|0.0;0.006;0.003;0.01;0.003;0.005;0.003;0.011	T|T	0.20605|0.20605	-1.0270|-1.0270	5|10	.|0.34782	.|T	.|0.22	-1.2666|-1.2666	6.0969|6.0969	0.20025|0.20025	0.0:0.7086:0.1906:0.1008|0.0:0.7086:0.1906:0.1008	.|.	.|204;523;520;510;520;509;403;496	.|B4DEX2;E5KP25;E5KP26;Q9UIF7-2;Q9UIF7;E5KP27;D3DPZ6;E5KP28	.|.;.;.;.;MUTYH_HUMAN;.;.;.	S|L	187|190;204;495;506;495;496;495;520;510;509;190;523;506	.|ENSP00000437093:R190L;ENSP00000433076:R204L;ENSP00000361176:R495L;ENSP00000409718:R506L;ENSP00000407590:R495L;ENSP00000346354:R496L;ENSP00000347685:R495L;ENSP00000361170:R520L;ENSP00000361182:R510L;ENSP00000361187:R509L;ENSP00000432330:R190L;ENSP00000408176:R523L;ENSP00000361172:R506L	.|ENSP00000346354:R496L	A|R	-|-	1|2	0|0	MUTYH|MUTYH	45567647|45567647	0.996000|0.996000	0.38824|0.38824	0.799000|0.799000	0.32177|0.32177	0.771000|0.771000	0.43674|0.43674	1.078000|1.078000	0.30754|0.30754	0.792000|0.792000	0.33850|0.33850	0.655000|0.655000	0.94253|0.94253	GCA|CGC	.		0.562	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222	
MYH7	4625	hgsc.bcm.edu;broad.mit.edu	37	14	23889251	23889251	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr14:23889251delC	ENST00000355349.3	-	27	3691	c.3529delG	c.(3529-3531)gacfs	p.D1177fs	MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1177					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCTCCAGGTCCCGCCGCATC	0.682																																					p.D1177fs		.											.	MYH7	94	0			c.3529delG						.						6.0	7.0	7.0					14																	23889251		1994	3915	5909	SO:0001589	frameshift_variant	4625	exon27			CCAGGTCCCGCCG	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3529delG	14.37:g.23889251delC	ENSP00000347507:p.Asp1177fs	189.0	0.0		330.0	34.0	NM_000257	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Frame_Shift_Del	DEL	ENST00000355349.3	37	CCDS9601.1																																																																																			.		0.682	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	
MYO7B	4648	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	2	128335798	128335798	+	Nonsense_Mutation	SNP	G	G	T	rs549327895		TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr2:128335798G>T	ENST00000409816.2	+	8	972	c.940G>T	c.(940-942)Gag>Tag	p.E314*	MYO7B_ENST00000389524.4_Nonsense_Mutation_p.E314*|MYO7B_ENST00000428314.1_Nonsense_Mutation_p.E314*			Q6PIF6	MYO7B_HUMAN	myosin VIIB	314	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTCCGACTCCGAGAGCTGGGA	0.607																																					p.E314X		.											.	MYO7B	47	0			c.G940T						.						55.0	60.0	58.0					2																	128335798		2101	4219	6320	SO:0001587	stop_gained	4648	exon9			GACTCCGAGAGCT		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.940G>T	2.37:g.128335798G>T	ENSP00000386461:p.Glu314*	140.0	0.0		171.0	24.0	NM_001080527	Q14786|Q8TEE1	Nonsense_Mutation	SNP	ENST00000409816.2	37	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	G	32	5.107329	0.94292	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	.	.	.	4.25	4.25	0.50352	.	0.060140	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.1863	0.86868	0.0:0.0:1.0:0.0	.	.	.	.	X	314	.	ENSP00000374175:E314X	E	+	1	0	MYO7B	128052268	1.000000	0.71417	0.935000	0.37517	0.289000	0.27227	7.682000	0.84083	2.365000	0.80145	0.563000	0.77884	GAG	.		0.607	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001	
MYO3B	140469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	171260816	171260816	+	Silent	SNP	G	G	T	rs201316029		TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr2:171260816G>T	ENST00000408978.4	+	20	2480	c.2337G>T	c.(2335-2337)ccG>ccT	p.P779P	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.P779P|MYO3B_ENST00000334231.6_Silent_p.P788P	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	779	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ACAACCGCCCGCTCTTGGACA	0.502																																					p.P779P		.											.	MYO3B	530	0			c.G2337T						.						124.0	119.0	120.0					2																	171260816		1909	4115	6024	SO:0001819	synonymous_variant	140469	exon20			CCGCCCGCTCTTG		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2337G>T	2.37:g.171260816G>T		225.0	0.0		210.0	41.0	NM_001083615	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	CCDS42773.1																																																																																			G|0.999;A|0.001		0.502	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		
NCOA3	8202	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	46279951	46279951	+	Missense_Mutation	SNP	G	G	T	rs376291640		TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr20:46279951G>T	ENST00000371998.3	+	20	4068	c.3877G>T	c.(3877-3879)Gat>Tat	p.D1293Y	NCOA3_ENST00000371997.3_Missense_Mutation_p.D1284Y|NCOA3_ENST00000341724.6_Missense_Mutation_p.D1219Y|NCOA3_ENST00000372004.3_Missense_Mutation_p.D1289Y			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1293	Acetyltransferase.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCCCAGCATGGATGGGCTTTT	0.522																																					p.D1293Y		.											.	NCOA3	229	0			c.G3877T						.						111.0	104.0	106.0					20																	46279951		2203	4300	6503	SO:0001583	missense	8202	exon20			AGCATGGATGGGC	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3877G>T	20.37:g.46279951G>T	ENSP00000361066:p.Asp1293Tyr	139.0	0.0		133.0	22.0	NM_181659	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.877183	0.91664	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.26810	1.71;4.51;4.51;1.71	6.17	6.17	0.99709	Domain of unknown function DUF1518 (1);	0.000000	0.85682	D	0.000000	T	0.52533	0.1740	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.996;1.0;0.996;0.996;0.993;0.996	T	0.40059	-0.9583	10	0.56958	D	0.05	-28.1929	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1293;1284;1296;1288;1289;1293	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	Y	1289;1219;1289;1293;1284	ENSP00000342123:D1219Y;ENSP00000361073:D1289Y;ENSP00000361066:D1293Y;ENSP00000361065:D1284Y	ENSP00000345671:D1289Y	D	+	1	0	NCOA3	45713358	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GAT	.		0.522	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	
NEXN	91624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	78407772	78407772	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr1:78407772T>A	ENST00000334785.7	+	12	1722	c.1538T>A	c.(1537-1539)aTg>aAg	p.M513K	NEXN_ENST00000480732.2_3'UTR|NEXN_ENST00000457030.1_Missense_Mutation_p.M499K|FUBP1_ENST00000489495.1_5'Flank|NEXN_ENST00000330010.8_Missense_Mutation_p.M449K	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAAGTGAATATGAAAGCTAGA	0.388																																					p.M513K		.											.	NEXN	92	0			c.T1538A						.						56.0	50.0	52.0					1																	78407772		1847	4095	5942	SO:0001583	missense	91624	exon12			TGAATATGAAAGC	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.1538T>A	1.37:g.78407772T>A	ENSP00000333938:p.Met513Lys	339.0	0.0		299.0	43.0	NM_144573		Missense_Mutation	SNP	ENST00000334785.7	37	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.1|26.1	4.706696|4.706696	0.89018|0.89018	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000457030;ENST00000330010;ENST00000334785|ENST00000342754	T;T;T|.	0.60797|.	0.24;0.16;0.24|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.255168|.	0.29145|.	N|.	0.013004|.	T|.	0.67468|.	0.2896|.	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.999;0.995;0.992;0.999|.	D;D;D;D|.	0.79784|.	0.993;0.988;0.972;0.993|.	T|.	0.68614|.	-0.5362|.	10|.	0.07030|.	T|.	0.85|.	-17.1734|-17.1734	15.9818|15.9818	0.80116|0.80116	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	449;499;513;449|.	D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7|.	.;.;NEXN_HUMAN;.|.	K|R	499;449;513|413	ENSP00000388048:M499K;ENSP00000327363:M449K;ENSP00000333938:M513K|.	ENSP00000327363:M449K|.	M|X	+|+	2|1	0|0	NEXN|NEXN	78180360|78180360	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.022000|8.022000	0.88759|0.88759	2.172000|2.172000	0.68678|0.68678	0.477000|0.477000	0.44152|0.44152	ATG|TGA	.		0.388	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573	
NXPE4	54827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	114453455	114453455	+	Missense_Mutation	SNP	G	G	A	rs111330181		TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr11:114453455G>A	ENST00000375478.3	-	3	565	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	129						extracellular vesicular exosome (GO:0070062)											TGCTTCCTGCGTCCCAAGTGG	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22557	0.0		0.0	False		,,,				2504	0.0				p.R129C		.											.	.	.	0			c.C385T						.	G	CYS/ARG,	0,4390		0,0,2195	109.0	110.0	110.0		385,	3.1	0.0	11	dbSNP_132	110	3,8581		0,3,4289	yes	missense,intron	FAM55D	NM_001077639.1,NM_017678.2	180,	0,3,6484	AA,AG,GG		0.0349,0.0,0.0231	benign,	129/545,	114453455	3,12971	2195	4292	6487	SO:0001583	missense	54827	exon3			TCCTGCGTCCCAA	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.385C>T	11.37:g.114453455G>A	ENSP00000364627:p.Arg129Cys	456.0	0.0		443.0	59.0	NM_001077639	Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	G	3.731	-0.055544	0.07362	0.0	3.49E-4	ENSG00000137634	ENST00000375478	T	0.14516	2.5	5.01	3.12	0.35913	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.043540	0.07504	N	0.907792	T	0.23249	0.0562	M	0.89840	3.065	0.09310	N	1	B	0.29481	0.245	B	0.27715	0.082	T	0.35076	-0.9803	10	0.54805	T	0.06	.	4.665	0.12660	0.1645:0.0:0.5301:0.3054	.	129	Q6UWF7	FA55D_HUMAN	C	129	ENSP00000364627:R129C	ENSP00000364627:R129C	R	-	1	0	FAM55D	113958665	0.005000	0.15991	0.007000	0.13788	0.003000	0.03518	1.457000	0.35212	0.607000	0.29982	-0.229000	0.12294	CGC	A|1.000;|0.000		0.587	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678	
OR2T12	127064	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	248458244	248458244	+	Missense_Mutation	SNP	G	G	T	rs369151985		TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr1:248458244G>T	ENST00000317996.1	-	1	636	c.637C>A	c.(637-639)Ctg>Atg	p.L213M		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TAGGAGGACAGGATGAGGGAA	0.542																																					p.L213M		.											.	OR2T12	71	0			c.C637A						.						80.0	68.0	72.0					1																	248458244		2203	4297	6500	SO:0001583	missense	127064	exon1			AGGACAGGATGAG	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.637C>A	1.37:g.248458244G>T	ENSP00000324583:p.Leu213Met	1449.0	2.0		1594.0	243.0	NM_001004692		Missense_Mutation	SNP	ENST00000317996.1	37	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	g	11.34	1.610495	0.28712	.	.	ENSG00000177201	ENST00000317996	T	0.00269	8.37	1.55	-2.43	0.06522	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29280	U	0.012616	T	0.00271	0.0008	L	0.51914	1.62	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54964	-0.8214	10	0.41790	T	0.15	.	1.1523	0.01788	0.1468:0.1493:0.2893:0.4146	.	213	Q8NG77	O2T12_HUMAN	M	213	ENSP00000324583:L213M	ENSP00000324583:L213M	L	-	1	2	OR2T12	246524867	0.000000	0.05858	0.002000	0.10522	0.305000	0.27757	-2.179000	0.01259	-0.207000	0.10187	0.175000	0.17021	CTG	.		0.542	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692	
OR2Z1	284383	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	8842140	8842140	+	Silent	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr19:8842140C>A	ENST00000324060.2	+	1	825	c.750C>A	c.(748-750)ctC>ctA	p.L250L		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TAGTGGGGCTCTTTTATGGTG	0.567																																					p.L250L		.											.	OR2Z1	69	0			c.C750A						.						151.0	122.0	132.0					19																	8842140		2203	4300	6503	SO:0001819	synonymous_variant	284383	exon1			GGGGCTCTTTTAT	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.750C>A	19.37:g.8842140C>A		172.0	1.0		231.0	33.0	NM_001004699	B9EH50|Q6IFK0|Q96R25	Silent	SNP	ENST00000324060.2	37	CCDS32895.1																																																																																			.		0.567	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1		
OR52R1	119695	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	4825512	4825512	+	Silent	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr11:4825512C>A	ENST00000356069.2	-	1	98	c.99G>T	c.(97-99)ccG>ccT	p.P33P	MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Silent_p.P112P|MMP26_ENST00000380390.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCACAGAACGGAAAGGCAA	0.512																																					p.P33P		.											.	OR52R1	69	0			c.G99T						.						94.0	84.0	87.0					11																	4825512		2201	4298	6499	SO:0001819	synonymous_variant	119695	exon1			ACAGAACGGAAAG	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.99G>T	11.37:g.4825512C>A		148.0	1.0		132.0	20.0	NM_001005177	Q6IFI0	Silent	SNP	ENST00000356069.2	37	CCDS31360.2																																																																																			.		0.512	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177	
OR4A15	81328	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	55135486	55135486	+	Silent	SNP	T	T	C			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr11:55135486T>C	ENST00000314706.3	+	1	127	c.127T>C	c.(127-129)Tta>Cta	p.L43L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATTTATCCTCTTAGGGCTCAC	0.408																																					p.L43L		.											.	OR4A15	70	0			c.T127C						.						66.0	63.0	64.0					11																	55135486		2201	4296	6497	SO:0001819	synonymous_variant	81328	exon1			ATCCTCTTAGGGC	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.127T>C	11.37:g.55135486T>C		262.0	0.0		220.0	35.0	NM_001005275	Q6IFL4|Q96R65	Silent	SNP	ENST00000314706.3	37	CCDS31500.1																																																																																			.		0.408	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275	
OR5T2	219464	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	55999981	55999981	+	Silent	SNP	A	A	C			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr11:55999981A>C	ENST00000313264.4	-	1	756	c.681T>G	c.(679-681)tcT>tcG	p.S227S		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGTCAGAATAAGAAATAGCAA	0.423																																					p.S227S		.											.	OR5T2	70	0			c.T681G						.						140.0	130.0	133.0					11																	55999981		2201	4296	6497	SO:0001819	synonymous_variant	219464	exon1			AGAATAAGAAATA	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.681T>G	11.37:g.55999981A>C		655.0	1.0		658.0	95.0	NM_001004746	B9EGX5|Q6IFC8	Silent	SNP	ENST00000313264.4	37	CCDS31523.1																																																																																			.		0.423	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746	
OR7D4	125958	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	9324917	9324917	+	Silent	SNP	C	C	T	rs377419980		TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr19:9324917C>T	ENST00000308682.2	-	1	625	c.597G>A	c.(595-597)ttG>ttA	p.L199L		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L199L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TGGCCACATACAAGACAATGT	0.522																																					p.L199L		.											.	OR7D4	71	1	Substitution - coding silent(1)	lung(1)	c.G597A						.						106.0	99.0	102.0					19																	9324917		2203	4300	6503	SO:0001819	synonymous_variant	125958	exon1			CACATACAAGACA		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.597G>A	19.37:g.9324917C>T		146.0	0.0		186.0	33.0	NM_001005191	A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Silent	SNP	ENST00000308682.2	37	CCDS32901.1																																																																																			.		0.522	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1		
OTOP1	133060	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	4199717	4199717	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr4:4199717A>G	ENST00000296358.4	-	5	868	c.844T>C	c.(844-846)Tcc>Ccc	p.S282P		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	282					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGCATTGTGGAGGCCAGGATC	0.552																																					p.S282P		.											.	OTOP1	92	0			c.T844C						.						77.0	67.0	70.0					4																	4199717		2203	4300	6503	SO:0001583	missense	133060	exon5			TTGTGGAGGCCAG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.844T>C	4.37:g.4199717A>G	ENSP00000296358:p.Ser282Pro	339.0	2.0		285.0	52.0	NM_177998	A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.641065	0.67244	.	.	ENSG00000163982	ENST00000296358	T	0.22743	1.94	4.56	4.56	0.56223	.	0.231000	0.45867	D	0.000330	T	0.47248	0.1435	M	0.77820	2.39	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.53344	-0.8452	10	0.87932	D	0	.	14.2291	0.65879	1.0:0.0:0.0:0.0	.	282	Q7RTM1	OTOP1_HUMAN	P	282	ENSP00000296358:S282P	ENSP00000296358:S282P	S	-	1	0	OTOP1	4250618	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	6.851000	0.75425	1.841000	0.53522	0.332000	0.21555	TCC	.		0.552	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998	
OVCH1	341350	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	29617463	29617463	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr12:29617463G>T	ENST00000318184.5	-	18	2101	c.2102C>A	c.(2101-2103)aCc>aAc	p.T701N	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	701	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TCCCCATCCGGTCACAGCACA	0.438																																					p.T701N		.											.	OVCH1	210	0			c.C2102A						.						60.0	59.0	59.0					12																	29617463		1924	4131	6055	SO:0001583	missense	341350	exon18			CATCCGGTCACAG	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2102C>A	12.37:g.29617463G>T	ENSP00000326708:p.Thr701Asn	148.0	0.0		142.0	20.0	NM_183378		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	G	15.85	2.955964	0.53293	.	.	ENSG00000187950	ENST00000318184	D	0.89552	-2.53	2.97	1.13	0.20643	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.92080	0.7490	M	0.78285	2.405	0.27105	N	0.962511	D	0.71674	0.998	D	0.63113	0.911	D	0.83443	0.0044	9	0.72032	D	0.01	.	6.8944	0.24247	0.2445:0.0:0.7555:0.0	.	701	Q7RTY7	OVCH1_HUMAN	N	701	ENSP00000326708:T701N	ENSP00000326708:T701N	T	-	2	0	OVCH1	29508730	1.000000	0.71417	0.048000	0.18961	0.993000	0.82548	4.138000	0.58017	0.301000	0.22738	0.655000	0.94253	ACC	.		0.438	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	
PCDH11X	27328	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	91090988	91090988	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chrX:91090988C>T	ENST00000373094.1	+	1	1330	c.485C>T	c.(484-486)gCg>gTg	p.A162V	PCDH11X_ENST00000395337.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A162V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A162V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	162	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTCTCCCAGCGGCTGTTGAT	0.343																																					p.A162V	NSCLC(38;925 1092 2571 38200 45895)	.											.	PCDH11X	193	0			c.C485T						.						36.0	37.0	37.0					X																	91090988		2200	4298	6498	SO:0001583	missense	27328	exon1			TCCCAGCGGCTGT	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.485C>T	X.37:g.91090988C>T	ENSP00000362186:p.Ala162Val	178.0	1.0		244.0	101.0	NM_001168363	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575181	0.28092	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	4.44	3.54	0.40534	Cadherin (4);Cadherin-like (1);	0.138116	0.49916	D	0.000122	T	0.29190	0.0726	N	0.11651	0.15	0.35926	D	0.832189	B;B;P;P;P;P;B;B	0.37101	0.083;0.191;0.526;0.526;0.526;0.582;0.047;0.047	B;B;B;B;B;B;B;B	0.31442	0.018;0.036;0.08;0.08;0.08;0.13;0.019;0.019	T	0.31503	-0.9941	10	0.25106	T	0.35	.	12.5927	0.56451	0.0:0.836:0.164:0.0	.	162;162;162;162;162;162;162;162	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	V	162	ENSP00000378746:A162V;ENSP00000362186:A162V;ENSP00000362189:A162V;ENSP00000355040:A162V;ENSP00000362180:A162V;ENSP00000423762:A162V;ENSP00000355105:A162V;ENSP00000384758:A162V;ENSP00000298274:A162V	ENSP00000298274:A162V	A	+	2	0	PCDH11X	90977644	0.999000	0.42202	0.953000	0.39169	0.537000	0.34900	4.217000	0.58547	0.938000	0.37419	0.506000	0.49869	GCG	.		0.343	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
PCDHA11	56138	broad.mit.edu;bcgsc.ca	37	5	140250040	140250040	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr5:140250040C>A	ENST00000398640.2	+	1	1352	c.1352C>A	c.(1351-1353)gCg>gAg	p.A451E	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	451	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAATGCGCCTGCGTTC	0.647																																					p.A451E		.											.	PCDHA11	67	0			c.C1352A						.						138.0	141.0	140.0					5																	140250040		2203	4300	6503	SO:0001583	missense	56138	exon1			ACAATGCGCCTGC	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1352C>A	5.37:g.140250040C>A	ENSP00000381636:p.Ala451Glu	311.0	1.0		336.0	35.0	NM_018902	B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674036	0.29693	.	.	ENSG00000249158	ENST00000398640	T	0.62105	0.05	5.66	4.79	0.61399	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.79736	0.4497	M	0.89163	3.01	0.24203	N	0.995506	D;D	0.76494	0.996;0.999	D;P	0.65773	0.938;0.879	T	0.71695	-0.4515	9	0.87932	D	0	.	9.7428	0.40429	0.0:0.8011:0.0:0.1989	.	451;451	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	E	451	ENSP00000381636:A451E	ENSP00000381636:A451E	A	+	2	0	PCDHA11	140230224	0.000000	0.05858	0.800000	0.32199	0.028000	0.11728	0.176000	0.16782	1.405000	0.46838	-0.265000	0.10407	GCG	.		0.647	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902	
PCDHA11	56138	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140250371	140250371	+	Silent	SNP	G	G	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr5:140250371G>A	ENST00000398640.2	+	1	1683	c.1683G>A	c.(1681-1683)gcG>gcA	p.A561A	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	561	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAACGCGCCGGCACTGC	0.682																																					p.A561A		.											.	PCDHA11	67	0			c.G1683A						.						86.0	95.0	92.0					5																	140250371		2203	4299	6502	SO:0001819	synonymous_variant	56138	exon1			CAACGCGCCGGCA	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1683G>A	5.37:g.140250371G>A		105.0	0.0		104.0	16.0	NM_018902	B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	CCDS47284.1																																																																																			.		0.682	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902	
PCLO	27445	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	7	82435139	82435139	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr7:82435139G>A	ENST00000333891.9	-	21	15135	c.14798C>T	c.(14797-14799)cCt>cTt	p.P4933L		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTGATTGGGAGGCTTTGCTGC	0.483																																					p.P4933L		.											.	PCLO	29	0			c.C14798T						.						39.0	41.0	41.0					7																	82435139		2022	4177	6199	SO:0001583	missense	27445	exon21			TTGGGAGGCTTTG	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.14798C>T	7.37:g.82435139G>A	ENSP00000334319:p.Pro4933Leu	216.0	0.0		187.0	17.0	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790558	0.50102	.	.	ENSG00000186472	ENST00000333891	T	0.16073	2.37	5.69	5.69	0.88448	.	.	.	.	.	T	0.22627	0.0546	N	0.08118	0	0.80722	D	1	D	0.63046	0.992	P	0.59357	0.856	T	0.23797	-1.0178	9	0.87932	D	0	.	19.8069	0.96534	0.0:0.0:1.0:0.0	.	4933	Q9Y6V0-5	.	L	4933	ENSP00000334319:P4933L	ENSP00000334319:P4933L	P	-	2	0	PCLO	82273075	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	7.159000	0.77483	2.668000	0.90789	0.557000	0.71058	CCT	.		0.483	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PFKP	5214	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	3146084	3146084	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr10:3146084G>A	ENST00000381125.4	+	5	644	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	PFKP_ENST00000381075.2_Missense_Mutation_p.A182T|PFKP_ENST00000421751.1_3'UTR	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	190	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CACGGACTCCGCCCTGCACAG	0.637																																					p.A190T		.											.	PFKP	253	0			c.G568A						.						103.0	77.0	86.0					10																	3146084		2203	4300	6503	SO:0001583	missense	5214	exon5			GACTCCGCCCTGC	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.568G>A	10.37:g.3146084G>A	ENSP00000370517:p.Ala190Thr	60.0	0.0		72.0	17.0	NM_002627	B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819537	0.71028	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000421751;ENST00000407806	D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61	4.64	4.64	0.57946	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.96917	0.8993	H	0.98507	4.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98797	1.0738	10	0.72032	D	0.01	.	17.8892	0.88866	0.0:0.0:1.0:0.0	.	182;190	Q5VSR7;Q01813	.;K6PP_HUMAN	T	190;179;182;152;152	ENSP00000370517:A190T;ENSP00000370465:A182T;ENSP00000410590:A152T;ENSP00000385880:A152T	ENSP00000370465:A182T	A	+	1	0	PFKP	3136084	1.000000	0.71417	0.051000	0.19133	0.004000	0.04260	9.498000	0.97972	2.293000	0.77203	0.650000	0.86243	GCC	.		0.637	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627	
PHF12	57649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	27251239	27251239	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr17:27251239C>A	ENST00000332830.4	-	4	1213	c.403G>T	c.(403-405)Gac>Tac	p.D135Y	PHF12_ENST00000577226.1_Missense_Mutation_p.D135Y|PHF12_ENST00000268756.3_Missense_Mutation_p.D135Y|RP11-20B24.5_ENST00000580782.1_RNA|RP11-20B24.5_ENST00000582631.1_RNA|PHF12_ENST00000582655.1_5'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AAGTCAGTGTCACTGCTGGGG	0.537																																					p.D135Y		.											.	PHF12	91	0			c.G403T						.						153.0	123.0	133.0					17																	27251239		2203	4300	6503	SO:0001583	missense	57649	exon4			CAGTGTCACTGCT	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.403G>T	17.37:g.27251239C>A	ENSP00000329933:p.Asp135Tyr	172.0	0.0		212.0	48.0	NM_020889		Missense_Mutation	SNP	ENST00000332830.4	37	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667068	0.88251	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.94828	-3.5;-3.53;-3.53	5.58	5.58	0.84498	.	0.095435	0.64402	D	0.000001	D	0.95937	0.8677	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.976;0.999	D;D;P;D	0.70935	0.936;0.971;0.656;0.936	D	0.96325	0.9239	10	0.72032	D	0.01	-7.893	18.1066	0.89521	0.0:1.0:0.0:0.0	.	117;135;135;135	B4DFE2;Q96QT6-2;Q2TAK2;Q96QT6	.;.;.;PHF12_HUMAN	Y	135	ENSP00000329933:D135Y;ENSP00000368157:D135Y;ENSP00000268756:D135Y	ENSP00000268756:D135Y	D	-	1	0	PHF12	24275365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.252000	0.78309	2.609000	0.88269	0.655000	0.94253	GAC	.		0.537	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889	
PITPNM2	57605	ucsc.edu;bcgsc.ca	37	12	123472131	123472131	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr12:123472131C>A	ENST00000542749.1	-	20	3253	c.3190G>T	c.(3190-3192)Ggg>Tgg	p.G1064W	PITPNM2_ENST00000280562.5_Missense_Mutation_p.G1058W|PITPNM2_ENST00000320201.4_Missense_Mutation_p.G1064W|PITPNM2_ENST00000392428.1_Missense_Mutation_p.G785W			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	1064					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GAGACACGCCCACTGTTGTTG	0.627																																					p.G1064W		.											.	PITPNM2	228	0			c.G3190T						.						131.0	107.0	115.0					12																	123472131		2203	4300	6503	SO:0001583	missense	57605	exon21			CACGCCCACTGTT	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.3190G>T	12.37:g.123472131C>A	ENSP00000437611:p.Gly1064Trp	72.0	0.0		76.0	9.0	NM_020845	Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213715	0.79352	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	D;D;D;D	0.99667	-6.34;-6.34;-6.34;-6.34	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.99711	0.9889	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97509	1.0065	10	0.87932	D	0	-42.0312	18.7781	0.91920	0.0:1.0:0.0:0.0	.	1058;1064	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	W	1058;1064;785;1064	ENSP00000280562:G1058W;ENSP00000322218:G1064W;ENSP00000376223:G785W;ENSP00000437611:G1064W	ENSP00000280562:G1058W	G	-	1	0	PITPNM2	122038084	1.000000	0.71417	0.997000	0.53966	0.714000	0.41099	7.751000	0.85126	2.434000	0.82447	0.561000	0.74099	GGG	.		0.627	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845	
PLA2G3	50487	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	31534717	31534717	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr22:31534717G>T	ENST00000215885.3	-	2	835	c.583C>A	c.(583-585)Cag>Aag	p.Q195K		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	195	Phospholipase A2-like.				acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TAGTTGTACTGCAAGGGTGAG	0.597																																					p.Q195K		.											.	PLA2G3	226	0			c.C583A						.						309.0	240.0	263.0					22																	31534717		2203	4300	6503	SO:0001583	missense	50487	exon2			TGTACTGCAAGGG	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.583C>A	22.37:g.31534717G>T	ENSP00000215885:p.Gln195Lys	593.0	1.0		544.0	95.0	NM_015715	O95768	Missense_Mutation	SNP	ENST00000215885.3	37	CCDS13889.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491740	0.64074	.	.	ENSG00000100078	ENST00000215885	T	0.29142	1.58	5.41	4.35	0.52113	Phospholipase A2 (3);	0.370207	0.28871	N	0.013866	T	0.34366	0.0895	L	0.55990	1.75	0.32021	N	0.60077	P	0.47677	0.899	P	0.45610	0.487	T	0.49000	-0.8984	10	0.56958	D	0.05	-17.6393	12.855	0.57880	0.0:0.2879:0.7121:0.0	.	195	Q9NZ20	PA2G3_HUMAN	K	195	ENSP00000215885:Q195K	ENSP00000215885:Q195K	Q	-	1	0	PLA2G3	29864717	1.000000	0.71417	0.998000	0.56505	0.870000	0.49936	1.665000	0.37449	2.546000	0.85860	0.561000	0.74099	CAG	.		0.597	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715	
PLCD3	113026	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	43195840	43195840	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr17:43195840C>A	ENST00000322765.5	-	6	1046	c.933G>T	c.(931-933)atG>atT	p.M311I	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	311					angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						CATCCAGTGTCATCAGCTCAT	0.607																																					.		.											.	PLCD3	703	0			.						.						90.0	97.0	95.0					17																	43195840		2132	4252	6384	SO:0001583	missense	113026	.			CAGTGTCATCAGC	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.933G>T	17.37:g.43195840C>A	ENSP00000313731:p.Met311Ile	88.0	1.0		166.0	65.0	.	Q8TEC1|Q8TF37|Q96FL6	Missense_Mutation	SNP	ENST00000322765.5	37		.	.	.	.	.	.	.	.	.	.	C	15.67	2.903012	0.52227	.	.	ENSG00000161714	ENST00000322765	T	0.18174	2.23	4.26	3.29	0.37713	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.13543	0.0328	.	.	.	0.44469	D	0.997409	B	0.11235	0.004	B	0.17433	0.018	T	0.06844	-1.0804	9	0.27082	T	0.32	.	12.8536	0.57871	0.1649:0.835:0.0:0.0	.	311	Q8N3E9	PLCD3_HUMAN	I	311	ENSP00000313731:M311I	ENSP00000313731:M311I	M	-	3	0	PLCD3	40551366	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.894000	0.69806	1.138000	0.42230	-0.385000	0.06624	ATG	.		0.607	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373	
PLCG2	5336	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	81927388	81927388	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr16:81927388G>T	ENST00000359376.3	+	12	1275	c.1061G>T	c.(1060-1062)cGc>cTc	p.R354L		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	354	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATGGGCTGTCGCTGCATTGAA	0.542																																					p.R354L		.											.	PLCG2	892	0			c.G1061T						.						63.0	65.0	64.0					16																	81927388		2182	4293	6475	SO:0001583	missense	5336	exon12			GCTGTCGCTGCAT		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1061G>T	16.37:g.81927388G>T	ENSP00000352336:p.Arg354Leu	90.0	0.0		74.0	13.0	NM_002661	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825445	0.90955	.	.	ENSG00000197943	ENST00000359376	T	0.81415	-1.49	3.71	3.71	0.42584	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	D	0.94463	0.8218	H	0.99650	4.68	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.913	D	0.97373	0.9977	10	0.87932	D	0	.	16.357	0.83239	0.0:0.0:1.0:0.0	.	221;354	B4E3H3;P16885	.;PLCG2_HUMAN	L	354	ENSP00000352336:R354L	ENSP00000352336:R354L	R	+	2	0	PLCG2	80484889	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.618000	0.98365	2.034000	0.60081	0.467000	0.42956	CGC	.		0.542	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		
PPARGC1B	133522	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	149213132	149213132	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr5:149213132C>T	ENST00000309241.5	+	5	1528	c.1496C>T	c.(1495-1497)cCc>cTc	p.P499L	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.P460L|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.P435L|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.P499L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	499					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCGCTGGTCCCCTCGGAGCCC	0.667																																					p.P499L		.											.	PPARGC1B	186	0			c.C1496T						.						27.0	30.0	29.0					5																	149213132		2196	4298	6494	SO:0001583	missense	133522	exon5			TGGTCCCCTCGGA	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.1496C>T	5.37:g.149213132C>T	ENSP00000312649:p.Pro499Leu	89.0	0.0		102.0	21.0	NM_133263	A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977948	0.53720	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	4.96	4.03	0.46877	.	0.745481	0.12560	N	0.458285	T	0.25121	0.0610	L	0.59436	1.845	0.20196	N	0.99993	D;D;D;D;D	0.76494	0.996;0.997;0.996;0.993;0.999	P;D;P;P;D	0.76575	0.9;0.913;0.9;0.796;0.988	T	0.02632	-1.1131	10	0.87932	D	0	-7.8559	13.1038	0.59235	0.0:0.8394:0.1606:0.0	.	478;478;460;499;499	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	L	460;499;499;435	ENSP00000353638:P460L;ENSP00000377855:P499L;ENSP00000312649:P499L;ENSP00000384403:P435L	ENSP00000312649:P499L	P	+	2	0	PPARGC1B	149193325	0.000000	0.05858	0.550000	0.28217	0.644000	0.38419	0.539000	0.23175	2.289000	0.77006	0.561000	0.74099	CCC	.		0.667	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263	
PPBP	5473	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	74853684	74853684	+	Missense_Mutation	SNP	G	G	T	rs201755460		TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr4:74853684G>T	ENST00000296028.3	-	1	230	c.137C>A	c.(136-138)gCg>gAg	p.A46E		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	46					blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|defense response to bacterium (GO:0042742)|glucose transport (GO:0015758)|immune response (GO:0006955)|leukocyte migration involved in inflammatory response (GO:0002523)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell division (GO:0051781)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	glucose transmembrane transporter activity (GO:0005355)			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TTTGCCTTTCGCCAAGTTTCT	0.532																																					p.A46E		.											.	PPBP	93	0			c.C137A						.						136.0	127.0	130.0					4																	74853684		2203	4300	6503	SO:0001583	missense	5473	exon1			CCTTTCGCCAAGT	M54995	CCDS3563.1	4q12-q13	2013-02-25	2002-08-22		ENSG00000163736	ENSG00000163736		"""Endogenous ligands"""	9240	protein-coding gene	gene with protein product	"""platelet basic protein"", ""beta-thromboglobulin"", ""connective tissue-activating peptide III"", ""neutrophil-activating peptide-2"""	121010		THBGB1		1826003	Standard	NM_002704		Approved	SCYB7, TGB, NAP-2-L1, LA-PF4, MDGF, LDGF, Beta-TG, CTAP3, CXCL7, PBP, b-TG1, TGB1, CTAPIII, NAP-2	uc003hhj.3	P02775	OTTHUMG00000130008	ENST00000296028.3:c.137C>A	4.37:g.74853684G>T	ENSP00000296028:p.Ala46Glu	291.0	0.0		229.0	51.0	NM_002704	B2R5F3|Q6IBJ8	Missense_Mutation	SNP	ENST00000296028.3	37	CCDS3563.1	.	.	.	.	.	.	.	.	.	.	G	2.782	-0.253372	0.05829	.	.	ENSG00000163736	ENST00000296028	T	0.44482	0.92	2.23	-1.96	0.07525	Chemokine interleukin-8-like domain (1);	5.599220	0.01243	U	0.008678	T	0.14270	0.0345	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05801	-1.0863	10	0.27082	T	0.32	.	0.3377	0.00328	0.1992:0.3118:0.2055:0.2835	.	46	P02775	CXCL7_HUMAN	E	46	ENSP00000296028:A46E	ENSP00000296028:A46E	A	-	2	0	PPBP	75072548	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.482000	0.02320	-0.618000	0.05656	-1.398000	0.01145	GCG	.		0.532	PPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252281.2	NM_002704	
PPP2R2B	5521	broad.mit.edu;bcgsc.ca	37	5	146435232	146435232	+	5'UTR	SNP	T	T	C			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr5:146435232T>C	ENST00000356826.3	-	0	468				PPP2R2B_ENST00000394410.2_Intron|PPP2R2B_ENST00000336640.6_Silent_p.T25T|PPP2R2B_ENST00000504198.1_Intron|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.R24G|PPP2R2B_ENST00000394409.3_Intron	NM_181674.2	NP_858060.2	Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta						apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTACCTTCTGTGTGGCAGC	0.478																																					p.R24G		.											.	PPP2R2B	659	0			c.A70G						.						86.0	76.0	80.0					5																	146435232		2203	4300	6503	SO:0001623	5_prime_UTR_variant	5521	exon1			ACCTTCTGTGTGG	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000356826.3:c.-129A>G	5.37:g.146435232T>C		141.0	0.0		158.0	15.0	NM_181674	A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000356826.3	37	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	T	7.983	0.751679	0.15778	.	.	ENSG00000156475	ENST00000394414	T	0.32988	1.43	5.47	-3.62	0.04543	.	1.315340	0.06492	N	0.734790	T	0.13841	0.0335	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43925	-0.9361	7	0.06494	T	0.89	.	7.7014	0.28625	0.1068:0.3942:0.0:0.499	.	.	.	.	G	24	ENSP00000377936:R24G	ENSP00000377936:R24G	R	-	1	2	AC011357.1	146415425	0.575000	0.26692	0.975000	0.42487	0.987000	0.75469	-0.460000	0.06720	-0.632000	0.05553	-1.100000	0.02121	AGA	.		0.478	PPP2R2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388939.2	NM_181678	
PRKCQ	5588	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	6470193	6470193	+	Silent	SNP	G	G	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr10:6470193G>T	ENST00000263125.5	-	18	2196	c.2097C>A	c.(2095-2097)ccC>ccA	p.P699P	PRKCQ_ENST00000397176.2_Silent_p.P636P|PRKCQ_ENST00000539722.1_Silent_p.P574P	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	699	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	GCTCCATCCCGGGGTTCATGA	0.498																																					p.P699P	Ovarian(50;572 1126 10530 25349 30594)	.											.	PRKCQ	1380	0			c.C2097A						.						124.0	129.0	128.0					10																	6470193		2203	4300	6503	SO:0001819	synonymous_variant	5588	exon18			CATCCCGGGGTTC	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.2097C>A	10.37:g.6470193G>T		187.0	1.0		205.0	39.0	NM_006257	B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Silent	SNP	ENST00000263125.5	37	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	G	0.082	-1.181392	0.01633	.	.	ENSG00000065675	ENST00000397178	.	.	.	5.55	-11.1	0.00147	.	0.000000	0.85682	D	0.000000	T	0.47116	0.1428	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62835	-0.6770	6	0.72032	D	0.01	.	2.5406	0.04725	0.2114:0.3563:0.2694:0.1629	.	.	.	.	Q	472	.	ENSP00000380363:P472Q	P	-	2	0	PRKCQ	6510199	0.001000	0.12720	0.111000	0.21465	0.034000	0.12701	-1.270000	0.02831	-2.269000	0.00684	-1.186000	0.01703	CCG	.		0.498	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257	
PVRL2	5819	broad.mit.edu;ucsc.edu;mdanderson.org	37	19	45391367	45391367	+	Splice_Site	SNP	G	G	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr19:45391367G>T	ENST00000252483.5	+	9	1348	c.1348G>T	c.(1348-1350)Gaa>Taa	p.E450*	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	450					acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CTACCTCCAGGAAATGCCTCG	0.577																																					p.E450X		.											.	PVRL2	90	0			c.G1348T						.						47.0	49.0	49.0					19																	45391367		2051	4188	6239	SO:0001630	splice_region_variant	5819	exon9			CTCCAGGAAATGC	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1348-1G>T	19.37:g.45391367G>T		193.0	1.0		249.0	53.0	NM_001042724	A8K5L5|O75455|Q6IBI6|Q96J29	Nonsense_Mutation	SNP	ENST00000252483.5	37	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	G	40	7.941237	0.98574	.	.	ENSG00000130202	ENST00000252483	.	.	.	4.8	4.8	0.61643	.	0.120975	0.37955	N	0.001880	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5417	0.61679	0.0:0.0:1.0:0.0	.	.	.	.	X	450	.	.	E	+	1	0	PVRL2	50083207	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	4.858000	0.62947	2.659000	0.90383	0.561000	0.74099	GAA	.		0.577	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856	Nonsense_Mutation
RALGAPB	57148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	37154091	37154091	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr20:37154091G>C	ENST00000262879.6	+	12	2116	c.1832G>C	c.(1831-1833)cGa>cCa	p.R611P	RALGAPB_ENST00000397038.1_Missense_Mutation_p.R389P|RALGAPB_ENST00000397040.1_Missense_Mutation_p.R611P|RALGAPB_ENST00000397042.3_Missense_Mutation_p.R611P			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	611					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.R611P(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACAGAATTGCGAAGATCCTCC	0.328																																					p.R611P		.											.	RALGAPB	92	1	Substitution - Missense(1)	lung(1)	c.G1832C						.						133.0	136.0	135.0					20																	37154091		2203	4300	6503	SO:0001583	missense	57148	exon12			AATTGCGAAGATC	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1832G>C	20.37:g.37154091G>C	ENSP00000262879:p.Arg611Pro	711.0	0.0		607.0	105.0	NM_020336	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164602	0.94727	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	T;T	0.73363	-0.74;-0.74	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.86138	0.5861	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.999;0.998	D;D;D;D	0.87578	0.998;0.991;0.997;0.991	D	0.86502	0.1804	10	0.87932	D	0	.	20.0308	0.97536	0.0:0.0:1.0:0.0	.	439;611;611;611	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	P	611;611;611;389;611;439	ENSP00000262879:R611P;ENSP00000380233:R611P	ENSP00000262879:R611P	R	+	2	0	RALGAPB	36587505	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.476000	0.97823	2.732000	0.93576	0.585000	0.79938	CGA	.		0.328	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336	
RB1	5925	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	13	49030478	49030479	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr13:49030478_49030479insA	ENST00000267163.4	+	19	2091_2092	c.1953_1954insA	c.(1954-1956)aaafs	p.K652fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	652	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)|p.V654fs*4(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CACTGTTTTATAAAAAAGGTTA	0.401		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																											p.Y651fs		.	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	.	RB1	3784	26	Whole gene deletion(15)|Unknown(10)|Deletion - Frameshift(1)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|soft_tissue(2)|adrenal_gland(1)|eye(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	c.1953_1954insA						.																																			SO:0001589	frameshift_variant	5925	exon19	Familial Cancer Database		GTTTTATAAAAAA	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1959dupA	13.37:g.49030484_49030484dupA	ENSP00000267163:p.Lys652fs	126.0	0.0		103.0	19.0	NM_000321	A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Ins	INS	ENST00000267163.4	37	CCDS31973.1																																																																																			.		0.401	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
RGSL1	353299	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	1	182458241	182458241	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr1:182458241G>T	ENST00000294854.8	+	8	1641	c.1621G>T	c.(1621-1623)Gaa>Taa	p.E541*	RGSL1_ENST00000542961.1_Nonsense_Mutation_p.E576*	NM_001137669.1	NP_001131141.1	A5PLK6	RGSL_HUMAN	regulator of G-protein signaling like 1	541					termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)				central_nervous_system(2)|skin(4)	6						TGACATGAAGGAAATGGACTA	0.438																																					p.E541X	Ovarian(71;11 616 11292 12944 18021 32289 33994 41738 46526)	.											.	RGSL1	226	0			c.G1621T						.						98.0	85.0	89.0					1																	182458241		692	1591	2283	SO:0001587	stop_gained	353299	exon8			ATGAAGGAAATGG	AF510428	CCDS58049.1	1q25	2013-04-02	2007-08-14		ENSG00000121446	ENSG00000121446			18636	protein-coding gene	gene with protein product		611012	"""regulator of G-protein signalling like 1"", ""regulator of G-protein signaling like 2"", ""regulator of G-protein signalling like 2"""	RGSL2		12801632	Standard	NM_001137669		Approved		uc009wxw.3	A5PLK6	OTTHUMG00000035217	ENST00000294854.8:c.1621G>T	1.37:g.182458241G>T	ENSP00000457748:p.Glu541*	241.0	0.0		270.0	40.0	NM_001137669	A2A2Z0|A6PVM2|A6PVM3|Q0VAJ4|Q0VAJ5|Q6ZRL0|Q86UV0|Q9H084	Nonsense_Mutation	SNP	ENST00000294854.8	37	CCDS58049.1																																																																																			.		0.438	RGSL1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320710.3	NM_181572	
RYR1	6261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	38974064	38974064	+	Silent	SNP	G	G	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr19:38974064G>A	ENST00000359596.3	+	33	4842	c.4842G>A	c.(4840-4842)gtG>gtA	p.V1614V	RYR1_ENST00000360985.3_Silent_p.V1614V|RYR1_ENST00000355481.4_Silent_p.V1614V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1614	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCCTGCAGGTGGAGACGAGGC	0.697																																					p.V1614V		.											.	RYR1	100	0			c.G4842A						.						13.0	14.0	13.0					19																	38974064		2193	4284	6477	SO:0001819	synonymous_variant	6261	exon33			GCAGGTGGAGACG	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4842G>A	19.37:g.38974064G>A		91.0	0.0		76.0	13.0	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																			.		0.697	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
RSPH6A	81492	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	46318184	46318184	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr19:46318184C>A	ENST00000221538.3	-	1	393	c.251G>T	c.(250-252)gGc>gTc	p.G84V	RSPH6A_ENST00000597055.1_Missense_Mutation_p.G84V|SYMPK_ENST00000598155.1_5'Flank	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	84						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTACTCCATGCCACCCAGCCG	0.607																																					p.G84V		.											.	RSPH6A	91	0			c.G251T						.						51.0	46.0	47.0					19																	46318184		2203	4300	6503	SO:0001583	missense	81492	exon1			TCCATGCCACCCA	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.251G>T	19.37:g.46318184C>A	ENSP00000221538:p.Gly84Val	77.0	0.0		112.0	11.0	NM_030785	Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.603976	0.28534	.	.	ENSG00000104941	ENST00000221538	T	0.15372	2.43	4.11	-5.72	0.02406	.	3.303470	0.00984	N	0.003424	T	0.09992	0.0245	L	0.29908	0.895	0.09310	N	1	B	0.26002	0.139	B	0.22386	0.039	T	0.18461	-1.0336	10	0.33141	T	0.24	-6.806	1.5802	0.02633	0.1887:0.2035:0.3962:0.2117	.	84	Q9H0K4	RSH6A_HUMAN	V	84	ENSP00000221538:G84V	ENSP00000221538:G84V	G	-	2	0	RSPH6A	51010024	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.057000	0.01395	-0.630000	0.05567	-0.310000	0.09108	GGC	.		0.607	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1		
S100A7A	338324	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	153390678	153390678	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr1:153390678C>A	ENST00000368729.4	+	2	177	c.120C>A	c.(118-120)ttC>ttA	p.F40L	S100A7A_ENST00000368728.2_Missense_Mutation_p.F40L|S100A7A_ENST00000329256.2_Missense_Mutation_p.F40L	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	40	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)	p.F40F(1)		cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGAGAACTTCCCCAATTTCC	0.488																																					p.F40L		.											.	S100A7A	91	1	Substitution - coding silent(1)	lung(1)	c.C120A						.						183.0	159.0	167.0					1																	153390678		2203	4300	6503	SO:0001583	missense	338324	exon2			GAACTTCCCCAAT	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	21657	protein-coding gene	gene with protein product			"""S100 calcium binding protein A15"", ""S100 calcium binding protein A7-like 1"""	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.120C>A	1.37:g.153390678C>A	ENSP00000357718:p.Phe40Leu	312.0	1.0		446.0	163.0	NM_176823	D3DV38|Q5SY69	Missense_Mutation	SNP	ENST00000368729.4	37	CCDS30872.1	.	.	.	.	.	.	.	.	.	.	.	17.41	3.382061	0.61845	.	.	ENSG00000184330	ENST00000368729;ENST00000368728;ENST00000329256	T;T;T	0.04360	3.64;3.64;3.64	2.42	1.46	0.22682	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.01627	0.0052	N	0.11364	0.135	0.24705	N	0.993231	D	0.89917	1.0	D	0.91635	0.999	T	0.28138	-1.0053	9	0.02654	T	1	.	5.5578	0.17125	0.0:0.8329:0.0:0.1671	.	40	Q86SG5	S1A7A_HUMAN	L	40	ENSP00000357718:F40L;ENSP00000357717:F40L;ENSP00000329008:F40L	ENSP00000329008:F40L	F	+	3	2	S100A7A	151657302	0.107000	0.21998	0.917000	0.36280	0.436000	0.31835	0.132000	0.15891	0.534000	0.28695	0.585000	0.79938	TTC	.		0.488	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823	
SACS	26278	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	23904756	23904756	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr13:23904756C>A	ENST00000382292.3	-	9	13532	c.13259G>T	c.(13258-13260)tGc>tTc	p.C4420F	SACS_ENST00000402364.1_Missense_Mutation_p.C3670F|SACS_ENST00000382298.3_Missense_Mutation_p.C4420F			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4420					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGAAGGGGGGCATTTTTCTTT	0.433																																					p.C4420F		.											.	SACS	298	0			c.G13259T						.						81.0	85.0	84.0					13																	23904756		2203	4299	6502	SO:0001583	missense	26278	exon10			GGGGGGCATTTTT	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.13259G>T	13.37:g.23904756C>A	ENSP00000371729:p.Cys4420Phe	129.0	0.0		151.0	35.0	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	0.058	-1.231456	0.01505	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86956	-2.04;-2.19;-2.04	5.85	5.85	0.93711	.	0.485149	0.26746	N	0.022708	T	0.71796	0.3382	N	0.02011	-0.69	0.24750	N	0.992988	B	0.02656	0.0	B	0.01281	0.0	T	0.63791	-0.6557	10	0.49607	T	0.09	.	14.9345	0.70944	0.143:0.857:0.0:0.0	.	4420	Q9NZJ4	SACS_HUMAN	F	4420;3670;4420	ENSP00000371729:C4420F;ENSP00000385844:C3670F;ENSP00000371735:C4420F	ENSP00000371729:C4420F	C	-	2	0	SACS	22802756	0.984000	0.35163	0.565000	0.28409	0.072000	0.16883	2.273000	0.43381	2.767000	0.95098	0.563000	0.77884	TGC	.		0.433	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SERPINB4	6318	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	61308143	61308143	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr18:61308143T>C	ENST00000341074.5	-	5	549	c.434A>G	c.(433-435)aAg>aGg	p.K145R	SERPINB4_ENST00000356424.6_Missense_Mutation_p.K145R	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	145					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GTTAATCTTCTTTCGACTTTC	0.408																																					p.K145R		.											.	SERPINB4	228	0			c.A434G						.						121.0	109.0	113.0					18																	61308143		2203	4300	6503	SO:0001583	missense	6318	exon5			ATCTTCTTTCGAC	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.434A>G	18.37:g.61308143T>C	ENSP00000343445:p.Lys145Arg	512.0	0.0		463.0	77.0	NM_002974	A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	CCDS11986.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.26|13.26	2.183101|2.183101	0.38511|0.38511	.|.	.|.	ENSG00000206073|ENSG00000206073	ENST00000341074;ENST00000356424;ENST00000436264|ENST00000413673	D;D;D|.	0.84944|.	-1.92;-1.92;-1.92|.	4.28|4.28	1.78|1.78	0.24846|0.24846	Serpin domain (3);|.	0.582093|.	0.14232|.	N|.	0.332645|.	T|T	0.54919|0.54919	0.1888|0.1888	M|M	0.78049|0.78049	2.395|2.395	0.09310|0.09310	N|N	1|1	B;P|.	0.49862|.	0.379;0.929|.	P;P|.	0.59825|.	0.496;0.864|.	T|T	0.46857|0.46857	-0.9161|-0.9161	10|5	0.62326|.	D|.	0.03|.	.|.	7.7402|7.7402	0.28837|0.28837	0.0:0.3425:0.0:0.6575|0.0:0.3425:0.0:0.6575	.|.	145;145|.	P48594;Q9BYF7|.	SPB4_HUMAN;.|.	R|G	145;145;102|147	ENSP00000343445:K145R;ENSP00000348795:K145R;ENSP00000399796:K102R|.	ENSP00000343445:K145R|.	K|R	-|-	2|1	0|2	SERPINB4|SERPINB4	59459123|59459123	0.000000|0.000000	0.05858|0.05858	0.760000|0.760000	0.31359|0.31359	0.539000|0.539000	0.34962|0.34962	0.618000|0.618000	0.24373|0.24373	0.683000|0.683000	0.31428|0.31428	0.491000|0.491000	0.48974|0.48974	AAG|AGA	.		0.408	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041	
SLC18A2	6571	ucsc.edu;bcgsc.ca	37	10	119015145	119015145	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr10:119015145A>G	ENST00000298472.5	+	9	1015	c.872A>G	c.(871-873)gAc>gGc	p.D291G	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	291					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CTGCTGAAGGACCCGTACATC	0.612																																					p.D291G		.											.	SLC18A2	90	0			c.A872G						.						54.0	53.0	53.0					10																	119015145		2203	4300	6503	SO:0001583	missense	6571	exon9			TGAAGGACCCGTA	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.872A>G	10.37:g.119015145A>G	ENSP00000298472:p.Asp291Gly	49.0	0.0		40.0	4.0	NM_003054	B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	ENST00000298472.5	37	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.417943	0.83449	.	.	ENSG00000165646	ENST00000298472	D	0.81908	-1.55	5.07	5.07	0.68467	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92619	0.7655	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93941	0.7223	10	0.59425	D	0.04	-29.3793	15.1344	0.72552	1.0:0.0:0.0:0.0	.	291	Q05940	VMAT2_HUMAN	G	291	ENSP00000298472:D291G	ENSP00000298472:D291G	D	+	2	0	SLC18A2	119005135	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	9.131000	0.94446	2.027000	0.59764	0.460000	0.39030	GAC	.		0.612	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054	
SLC24A4	123041	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	92949118	92949118	+	Missense_Mutation	SNP	G	G	T	rs563681958		TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr14:92949118G>T	ENST00000532405.1	+	13	1576	c.1350G>T	c.(1348-1350)gaG>gaT	p.E450D	SLC24A4_ENST00000393265.2_Missense_Mutation_p.E386D|SLC24A4_ENST00000531433.1_Missense_Mutation_p.E431D|SLC24A4_ENST00000351924.5_Missense_Mutation_p.E414D|SLC24A4_ENST00000298877.1_Missense_Mutation_p.E433D			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	450					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCCGCTGGGAGAAGTTCTTCA	0.602																																					p.E450D	NSCLC(10;315 435 10383 28450 38798)	.											.	SLC24A4	93	0			c.G1350T						.						117.0	96.0	103.0					14																	92949118		2203	4300	6503	SO:0001583	missense	123041	exon13			CTGGGAGAAGTTC	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1350G>T	14.37:g.92949118G>T	ENSP00000431840:p.Glu450Asp	146.0	0.0		135.0	20.0	NM_153646	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	CCDS9903.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.922728|4.922728	0.92319|0.92319	.|.	.|.	ENSG00000140090|ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924;ENST00000318079|ENST00000525557	T;T;T;T;T|.	0.79845|.	0.44;-0.02;0.44;0.44;-1.31|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.71896|.	0.3394|.	M|M	0.84683|0.84683	2.71|2.71	0.58432|0.58432	D|D	0.999996|0.999996	P;P;B|.	0.39903|.	0.694;0.529;0.246|.	P;B;B|.	0.45406|.	0.479;0.331;0.331|.	T|.	0.68488|.	-0.5395|.	10|.	0.46703|0.08179	T|T	0.11|0.78	.|.	13.1576|13.1576	0.59527|0.59527	0.0728:0.0:0.9272:0.0|0.0728:0.0:0.9272:0.0	.|.	431;386;450|.	Q8NFF2-3;Q8NFF2-2;Q8NFF2|.	.;.;NCKX4_HUMAN|.	D|X	386;431;450;433;414;302|316	ENSP00000376948:E386D;ENSP00000433302:E431D;ENSP00000431840:E450D;ENSP00000298877:E433D;ENSP00000337789:E414D|.	ENSP00000298877:E433D|ENSP00000432464:E316X	E|E	+|+	3|1	2|0	SLC24A4|SLC24A4	92018871|92018871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.479000|6.479000	0.73600|0.73600	2.716000|2.716000	0.92895|0.92895	0.561000|0.561000	0.74099|0.74099	GAG|GAA	.		0.602	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646	
SLC2A14	144195	broad.mit.edu;ucsc.edu;mdanderson.org	37	12	7981450	7981450	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr12:7981450C>A	ENST00000543909.1	-	11	1354	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	SLC2A14_ENST00000539924.1_Nonsense_Mutation_p.E214*|SLC2A14_ENST00000431042.2_Nonsense_Mutation_p.E176*|SLC2A14_ENST00000535295.1_Nonsense_Mutation_p.E90*|SLC2A14_ENST00000542546.1_Nonsense_Mutation_p.E90*|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000396589.2_Nonsense_Mutation_p.E199*|SLC2A14_ENST00000340749.5_Nonsense_Mutation_p.E176*			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	199					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AGGATGAGTTCCAGACCAAAG	0.468																																					p.E199X		.											.	SLC2A14	91	0			c.G595T						.						113.0	103.0	106.0					12																	7981450		2203	4300	6503	SO:0001587	stop_gained	144195	exon7			TGAGTTCCAGACC	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.595G>T	12.37:g.7981450C>A	ENSP00000440480:p.Glu199*	216.0	1.0		210.0	29.0	NM_153449	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Nonsense_Mutation	SNP	ENST00000543909.1	37	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662292	0.47572	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	.	.	.	3.92	-1.47	0.08772	.	0.250581	0.45361	D	0.000371	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	5.1111	0.14809	0.0:0.4752:0.1543:0.3706	.	.	.	.	X	176;199;176;199;90;90;214	.	ENSP00000340450:E176X	E	-	1	0	SLC2A14	7872717	0.776000	0.28616	0.307000	0.25127	0.130000	0.20726	0.697000	0.25556	0.041000	0.15688	0.460000	0.39030	GAA	.		0.468	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449	
TRAPPC4	51399	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	118896705	118896705	+	IGR	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr11:118896705C>A	ENST00000533632.1	+	0	1759				SLC37A4_ENST00000330775.7_Missense_Mutation_p.R318L|SLC37A4_ENST00000545985.1_Missense_Mutation_p.R319L|SLC37A4_ENST00000538950.1_Missense_Mutation_p.R246L|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000357590.5_Missense_Mutation_p.R319L	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		CACTGTTACCCGGAAGAGGTA	0.567																																					p.R319L		.											.	SLC37A4	67	0			c.G956T						.						54.0	59.0	58.0					11																	118896705		2081	4220	6301	SO:0001628	intergenic_variant	2542	exon8			GTTACCCGGAAGA	AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"""Trafficking protein particle complex"""	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296			11.37:g.118896705C>A		140.0	0.0		134.0	14.0	NM_001467	A8K3A5|B4DME1	Missense_Mutation	SNP	ENST00000533632.1	37	CCDS8407.1																																																																																			.		0.567	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389332.1	NM_016146	
SLC6A11	6538	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	10967702	10967702	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr3:10967702C>A	ENST00000254488.2	+	9	1199	c.1133C>A	c.(1132-1134)gCc>gAc	p.A378D		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	378					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	CCCGGCCTGGCCTTTATTGCG	0.567																																					p.A378D		.											.	SLC6A11	132	0			c.C1133A						.						229.0	239.0	236.0					3																	10967702		2203	4300	6503	SO:0001583	missense	6538	exon9			GCCTGGCCTTTAT	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1133C>A	3.37:g.10967702C>A	ENSP00000254488:p.Ala378Asp	205.0	1.0		242.0	47.0	NM_014229	B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002525	0.93227	.	.	ENSG00000132164	ENST00000254488	T	0.78126	-1.15	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.93103	0.7804	H	0.98407	4.225	0.80722	D	1	D	0.62365	0.991	D	0.74674	0.984	D	0.95805	0.8836	10	0.87932	D	0	.	18.7333	0.91744	0.0:1.0:0.0:0.0	.	378	P48066	S6A11_HUMAN	D	378	ENSP00000254488:A378D	ENSP00000254488:A378D	A	+	2	0	SLC6A11	10942702	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.639000	0.83342	2.419000	0.82065	0.561000	0.74099	GCC	.		0.567	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229	
SLITRK6	84189	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	86370026	86370026	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr13:86370026G>T	ENST00000400286.2	-	2	1216	c.618C>A	c.(616-618)caC>caA	p.H206Q		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	206					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTCGGCCAATGTGTTCGAGAA	0.408																																					p.H206Q		.											.	SLITRK6	137	0			c.C618A						.						104.0	93.0	96.0					13																	86370026		1879	4104	5983	SO:0001583	missense	84189	exon2			GCCAATGTGTTCG	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.618C>A	13.37:g.86370026G>T	ENSP00000383143:p.His206Gln	120.0	0.0		131.0	24.0	NM_032229	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872355	0.51695	.	.	ENSG00000184564	ENST00000400286	T	0.51817	0.69	5.96	3.31	0.37934	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	L	0.39467	1.215	0.49798	D	0.999829	D	0.76494	0.999	D	0.85130	0.997	T	0.52704	-0.8540	10	0.45353	T	0.12	-15.3126	9.8979	0.41329	0.2205:0.0:0.7795:0.0	.	206	Q9H5Y7	SLIK6_HUMAN	Q	206	ENSP00000383143:H206Q	ENSP00000383143:H206Q	H	-	3	2	SLITRK6	85268027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.524000	0.35942	0.870000	0.35726	0.655000	0.94253	CAC	.		0.408	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229	
SMG9	56006	hgsc.bcm.edu;bcgsc.ca	37	19	44238560	44238560	+	Silent	SNP	G	G	T	rs368481505		TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr19:44238560G>T	ENST00000270066.6	-	10	1425	c.1083C>A	c.(1081-1083)acC>acA	p.T361T	SMG9_ENST00000601170.1_Silent_p.T361T	NM_019108.2	NP_061981.2	Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	361					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|intracellular (GO:0005622)	identical protein binding (GO:0042802)			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						GGTAGTACTCGGTGCCTTCAT	0.612																																					p.T361T		.											.	SMG9	91	0			c.C1083A						.						33.0	28.0	30.0					19																	44238560		2188	4284	6472	SO:0001819	synonymous_variant	56006	exon10			GTACTCGGTGCCT	BC008869	CCDS33043.2	19q13.31	2013-07-02	2013-07-02	2011-06-21	ENSG00000105771	ENSG00000105771			25763	protein-coding gene	gene with protein product		613176	"""chromosome 19 open reading frame 61"", ""smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C19orf61		11230166, 19417104	Standard	NM_019108		Approved	FLJ12886	uc002oxj.2	Q9H0W8	OTTHUMG00000150337	ENST00000270066.6:c.1083C>A	19.37:g.44238560G>T		76.0	0.0		101.0	5.0	NM_019108	O60429|Q9H9A9	Silent	SNP	ENST00000270066.6	37	CCDS33043.2																																																																																			.		0.612	SMG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317668.1	NM_019108	
SORCS3	22986	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	106959776	106959776	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr10:106959776C>T	ENST00000369701.3	+	15	2256	c.2029C>T	c.(2029-2031)Ctc>Ttc	p.L677F	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	677					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCACTTCAGCCTCCGCTCCGA	0.498																																					p.L677F	NSCLC(116;1497 1690 7108 13108 14106)	.											.	SORCS3	99	0			c.C2029T						.						113.0	101.0	105.0					10																	106959776		2203	4300	6503	SO:0001583	missense	22986	exon15			TTCAGCCTCCGCT	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2029C>T	10.37:g.106959776C>T	ENSP00000358715:p.Leu677Phe	151.0	1.0		150.0	30.0	NM_014978	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842417	0.51057	.	.	ENSG00000156395	ENST00000369701	T	0.29917	1.55	6.07	6.07	0.98685	VPS10 (1);	0.127920	0.53938	D	0.000043	T	0.28632	0.0709	L	0.34521	1.04	0.58432	D	0.999993	B	0.25563	0.129	B	0.26310	0.068	T	0.03773	-1.1005	9	.	.	.	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	677	Q9UPU3	SORC3_HUMAN	F	677	ENSP00000358715:L677F	.	L	+	1	0	SORCS3	106949766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.630000	0.67805	2.890000	0.99128	0.650000	0.86243	CTC	.		0.498	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
SPIN4	139886	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	62570624	62570624	+	Silent	SNP	G	G	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chrX:62570624G>A	ENST00000335144.3	-	1	594	c.75C>T	c.(73-75)caC>caT	p.H25H	SPIN4_ENST00000374884.2_Silent_p.H7H|SPIN4-AS1_ENST00000451979.1_RNA	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	25					gamete generation (GO:0007276)					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						GTTGCTTCCTGTGGGTGTGCC	0.582																																					p.H25H		.											.	SPIN4	109	0			c.C75T						.						64.0	63.0	63.0					X																	62570624		2067	4173	6240	SO:0001819	synonymous_variant	139886	exon1			CTTCCTGTGGGTG	AK126931	CCDS43964.1	Xq11.1	2008-02-05			ENSG00000186767	ENSG00000186767			27040	protein-coding gene	gene with protein product						12477932	Standard	NM_001012968		Approved	FLJ44984	uc004dvf.3	Q56A73	OTTHUMG00000021696	ENST00000335144.3:c.75C>T	X.37:g.62570624G>A		89.0	0.0		84.0	44.0	NM_001012968	B3KX90|Q5JUL2	Silent	SNP	ENST00000335144.3	37	CCDS43964.1																																																																																			.		0.582	SPIN4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012968	
STAB1	23166	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	52546358	52546358	+	Splice_Site	SNP	C	C	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr3:52546358C>T	ENST00000321725.6	+	27	2961	c.2885C>T	c.(2884-2886)gCc>gTc	p.A962V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	962	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCACCCCAGGCCACCTGCCGG	0.657																																					p.A962V		.											.	STAB1	139	0			c.C2885T						.						62.0	69.0	67.0					3																	52546358		2203	4299	6502	SO:0001630	splice_region_variant	23166	exon27			CCCAGGCCACCTG	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2884-1C>T	3.37:g.52546358C>T		75.0	0.0		68.0	9.0	NM_015136	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924544	0.73213	.	.	ENSG00000010327	ENST00000321725	D	0.97710	-4.5	5.57	5.57	0.84162	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98112	0.9377	L	0.60012	1.86	0.58432	D	0.999992	D	0.69078	0.997	D	0.68765	0.96	D	0.98740	1.0716	10	0.87932	D	0	.	15.0541	0.71897	0.0:1.0:0.0:0.0	.	962	Q9NY15	STAB1_HUMAN	V	962	ENSP00000312946:A962V	ENSP00000312946:A962V	A	+	2	0	STAB1	52521398	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	3.154000	0.50693	2.633000	0.89246	0.563000	0.77884	GCC	.		0.657	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	Missense_Mutation
STK3	6788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	99560362	99560362	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr8:99560362T>A	ENST00000419617.2	-	9	1116	c.976A>T	c.(976-978)Atg>Ttg	p.M326L	STK3_ENST00000523601.1_Missense_Mutation_p.M354L	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	326					apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		GTCTTCACCATGGTGTGGGAA	0.463																																					p.M354L		.											.	STK3	978	0			c.A1060T						.						57.0	54.0	55.0					8																	99560362		1937	4146	6083	SO:0001583	missense	6788	exon11			TCACCATGGTGTG	BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"""serine/threonine kinase 3 (Ste20, yeast homolog)"""			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.976A>T	8.37:g.99560362T>A	ENSP00000390500:p.Met326Leu	188.0	0.0		152.0	34.0	NM_001256312	A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	37	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	T	18.55	3.648917	0.67358	.	.	ENSG00000104375	ENST00000419617;ENST00000523601;ENST00000518165	T;T;T	0.71222	-0.55;-0.54;0.27	5.74	5.74	0.90152	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72827	0.3509	L	0.49455	1.56	0.80722	D	1	B;B;B	0.27068	0.167;0.011;0.026	B;B;B	0.41332	0.354;0.02;0.02	T	0.68349	-0.5432	10	0.27082	T	0.32	.	16.0502	0.80755	0.0:0.0:0.0:1.0	.	215;326;354	E5RFQ9;Q13188;B3KYA7	.;STK3_HUMAN;.	L	326;354;215	ENSP00000390500:M326L;ENSP00000429744:M354L;ENSP00000428014:M215L	ENSP00000390500:M326L	M	-	1	0	STK3	99629538	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.625000	0.83145	2.197000	0.70478	0.528000	0.53228	ATG	.		0.463	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	NM_006281	
SYT16	83851	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	62551067	62551067	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr14:62551067A>T	ENST00000430451.2	+	5	1785	c.1588A>T	c.(1588-1590)Agc>Tgc	p.S530C		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	530	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GATCAAAGGCAGCCATTTCCG	0.552																																					p.S530C		.											.	SYT16	23	0			c.A1588T						.						59.0	58.0	59.0					14																	62551067		1961	4143	6104	SO:0001583	missense	83851	exon5			AAAGGCAGCCATT	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1588A>T	14.37:g.62551067A>T	ENSP00000394700:p.Ser530Cys	80.0	0.0		113.0	22.0	NM_031914	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.631373	0.87660	.	.	ENSG00000139973	ENST00000430451	T	0.69806	-0.43	5.44	5.44	0.79542	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.84042	0.5385	M	0.88842	2.985	0.80722	D	1	D	0.62365	0.991	D	0.70487	0.969	D	0.87170	0.2220	10	0.72032	D	0.01	-7.4393	15.6783	0.77344	1.0:0.0:0.0:0.0	.	530	Q17RD7	SYT16_HUMAN	C	530	ENSP00000394700:S530C	ENSP00000394700:S530C	S	+	1	0	SYT16	61620820	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.752000	0.91632	2.284000	0.76573	0.523000	0.50628	AGC	.		0.552	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914	
TLR8	51311	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	12939183	12939183	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chrX:12939183T>C	ENST00000218032.6	+	2	2111	c.2024T>C	c.(2023-2025)aTg>aCg	p.M675T	TLR8_ENST00000311912.5_Missense_Mutation_p.M693T	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	675					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	AATGATAATATGTTAAAGTTT	0.378																																					p.M675T		.											.	TLR8	629	0			c.T2024C						.						49.0	50.0	50.0					X																	12939183		2202	4295	6497	SO:0001583	missense	51311	exon2			ATAATATGTTAAA	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2024T>C	X.37:g.12939183T>C	ENSP00000218032:p.Met675Thr	87.0	0.0		134.0	47.0	NM_138636	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.492083	0.00159	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.56275	0.47;0.47	5.82	-11.6	0.00059	.	3.369210	0.00904	N	0.002384	T	0.35393	0.0930	L	0.39397	1.21	0.09310	N	1	B;B	0.12630	0.002;0.006	B;B	0.04013	0.001;0.001	T	0.14282	-1.0478	10	0.22706	T	0.39	.	6.4243	0.21760	0.4747:0.1082:0.3411:0.076	.	675;693	Q9NR97;D1CS70	TLR8_HUMAN;.	T	675;693	ENSP00000218032:M675T;ENSP00000312082:M693T	ENSP00000218032:M675T	M	+	2	0	TLR8	12849104	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.880000	0.01627	-4.010000	0.00082	-0.396000	0.06452	ATG	.		0.378	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610	
TMPRSS3	64699	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	43802158	43802158	+	Intron	SNP	A	A	G			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr21:43802158A>G	ENST00000291532.3	-	9	1908				TMPRSS3_ENST00000474596.1_Intron|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.L323P|TMPRSS3_ENST00000380399.1_Intron|TMPRSS3_ENST00000433957.2_Intron|TMPRSS3_ENST00000398405.1_Intron	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3						cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						AGAACCACATAGAGACCCAGA	0.443																																					p.L323P		.											.	TMPRSS3	155	0			c.T968C						.						133.0	126.0	128.0					21																	43802158		2203	4300	6503	SO:0001627	intron_variant	64699	exon9			CCACATAGAGACC	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.952+15T>C	21.37:g.43802158A>G		160.0	1.0		150.0	14.0	NM_032405	D3DSJ6|Q5USC7|Q6ZMC3	Missense_Mutation	SNP	ENST00000291532.3	37	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.621004	0.28889	.	.	ENSG00000160183	ENST00000398397	D	0.82344	-1.6	4.42	-5.34	0.02705	.	.	.	.	.	T	0.67468	0.2896	L	0.38692	1.165	0.09310	N	1	P	0.35208	0.49	B	0.26864	0.074	T	0.54583	-0.8272	8	.	.	.	.	9.3681	0.38237	0.261:0.0:0.6181:0.1209	.	323	P57727-3	.	P	323	ENSP00000381434:L323P	.	L	-	2	0	TMPRSS3	42675227	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.397000	0.02511	-0.482000	0.06782	-0.408000	0.06270	CTA	.		0.443	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1		
TNK2	10188	ucsc.edu;bcgsc.ca	37	3	195605439	195605439	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr3:195605439C>A	ENST00000333602.6	-	8	1656	c.1039G>T	c.(1039-1041)Ggg>Tgg	p.G347W	TNK2_ENST00000392400.1_Missense_Mutation_p.G347W|TNK2_ENST00000468819.1_5'Flank|TNK2_ENST00000381916.2_Missense_Mutation_p.G410W|TNK2_ENST00000428187.1_Missense_Mutation_p.G379W|TNK2_ENST00000316664.3_Missense_Mutation_p.G347W	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	347	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			TRTFSHASDTWMFGVTLWEMFTYGQEPWIGLNGSQILHKID KEGERLPR -> PPWRDISASSSTQFPHAVPCFPTSLLAKL LLRHSVPASSREIKLVSILC (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	AGCCGCTCCCCCTCCTTGTCG	0.612																																					p.G410W		.											.	TNK2	957	0			c.G1228T						.						52.0	56.0	55.0					3																	195605439		2203	4300	6503	SO:0001583	missense	10188	exon8			GCTCCCCCTCCTT	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1039G>T	3.37:g.195605439C>A	ENSP00000329425:p.Gly347Trp	32.0	0.0		43.0	4.0	NM_001010938	Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	CCDS33928.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.430004|4.430004	0.83776|0.83776	.|.	.|.	ENSG00000061938|ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000428187;ENST00000392400;ENST00000316664|ENST00000438207	D;D;D;D;D|.	0.84873|.	-1.91;-1.91;-1.91;-1.91;-1.91|.	5.27|5.27	4.4|4.4	0.53042|0.53042	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88577|0.88577	0.6474|0.6474	H|H	0.98754|0.98754	4.32|4.32	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.99;1.0;0.999;0.999|.	D|D	0.92369|0.92369	0.5904|0.5904	10|5	0.72032|.	D|.	0.01|.	.|.	13.0839|13.0839	0.59129|0.59129	0.0:0.9232:0.0:0.0768|0.0:0.9232:0.0:0.0768	.|.	223;347;410;379|.	Q59FX1;Q07912;Q07912-3;C9J1X3|.	.;ACK1_HUMAN;.;.|.	W|S	347;410;379;347;347|271	ENSP00000329425:G347W;ENSP00000371341:G410W;ENSP00000392546:G379W;ENSP00000376201:G347W;ENSP00000323216:G347W|.	ENSP00000323216:G347W|.	G|R	-|-	1|3	0|2	TNK2|TNK2	197089836|197089836	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.943000|0.943000	0.58893|0.58893	7.523000|7.523000	0.81856|0.81856	1.469000|1.469000	0.48083|0.48083	0.651000|0.651000	0.88453|0.88453	GGG|AGG	.		0.612	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781	
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	7577534	7577534	+	Missense_Mutation	SNP	C	C	A	rs28934571		TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr17:7577534C>A	ENST00000269305.4	-	7	936	c.747G>T	c.(745-747)agG>agT	p.R249S	TP53_ENST00000359597.4_Missense_Mutation_p.R249S|TP53_ENST00000455263.2_Missense_Mutation_p.R249S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R249S|TP53_ENST00000445888.2_Missense_Mutation_p.R249S|TP53_ENST00000420246.2_Missense_Mutation_p.R249S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934571). {ECO:0000269|PubMed:1694291, ECO:0000269|PubMed:16959974}.|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGAGGATGGGCCTCCGGTTCA	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.R249S	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,mouth,carcinoma,0	TP53	70225	378	Substitution - Missense(348)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Substitution - coding silent(5)|Insertion - Frameshift(1)|Insertion - In frame(1)|Deletion - Frameshift(1)|Complex - compound substitution(1)	liver(240)|lung(44)|upper_aerodigestive_tract(12)|breast(12)|central_nervous_system(10)|stomach(7)|ovary(6)|prostate(6)|cervix(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(5)|biliary_tract(5)|urinary_tract(5)|bone(4)|endometrium(3)|oesophagus(3)|skin(2)|peritoneum(1)|kidney(1)|salivary_gland(1)|pancreas(1)	c.G747T						.						155.0	113.0	127.0					17																	7577534		2203	4300	6503	SO:0001583	missense	7157	exon7	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	GATGGGCCTCCGG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.747G>T	17.37:g.7577534C>A	ENSP00000269305:p.Arg249Ser	202.0	2.0		172.0	34.0	NM_000546	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344264	0.61073	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99865	-7.29;-7.29;-7.29;-7.29;-7.29;-7.29;-7.29	4.62	-0.0929	0.13654	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	M	0.92367	3.3	0.50039	D	0.999848	D;D;D;D;D	0.89917	0.996;0.996;0.997;0.99;1.0	D;D;D;D;D	0.79108	0.968;0.966;0.981;0.955;0.992	D	0.98720	1.0708	10	0.72032	D	0.01	-3.0658	3.2479	0.06803	0.1392:0.5551:0.1362:0.1695	rs28934571	249;249;249;249;249	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	S	249;249;249;249;249;249;238;117	ENSP00000410739:R249S;ENSP00000352610:R249S;ENSP00000269305:R249S;ENSP00000398846:R249S;ENSP00000391127:R249S;ENSP00000391478:R249S;ENSP00000425104:R117S	ENSP00000269305:R249S	R	-	3	2	TP53	7518259	0.011000	0.17503	0.998000	0.56505	0.783000	0.44284	-1.379000	0.02554	0.253000	0.21552	0.462000	0.41574	AGG	C|1.000;|0.000		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TRAPPC3	27095	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	36614938	36614938	+	Splice_Site	SNP	C	C	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr1:36614938C>T	ENST00000373166.3	-	1	132	c.42G>A	c.(40-42)atG>atA	p.M14I	TRAPPC3_ENST00000373162.1_5'UTR|TRAPPC3_ENST00000373159.1_Splice_Site_p.M14I|TRAPPC3_ENST00000373163.1_5'UTR	NM_001270894.1|NM_014408.4	NP_001257823.1|NP_055223.1	O43617	TPPC3_HUMAN	trafficking protein particle complex 3	14					ER to Golgi vesicle-mediated transport (GO:0006888)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|TRAPP complex (GO:0030008)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Myeloproliferative disorder(586;0.0393)				TCCAAGTTACCATTTTCTTGC	0.682																																					p.M14I		.											.	TRAPPC3	90	0			c.G42A						.						43.0	35.0	37.0					1																	36614938		2203	4299	6502	SO:0001630	splice_region_variant	27095	exon1			AGTTACCATTTTC	AF041432	CCDS404.1, CCDS59194.1, CCDS72757.1, CCDS72758.1	1p34.2	2011-10-10			ENSG00000054116	ENSG00000054116		"""Trafficking protein particle complex"""	19942	protein-coding gene	gene with protein product		610955				8619474	Standard	NM_014408		Approved	BET3	uc031pls.1	O43617	OTTHUMG00000007664	ENST00000373166.3:c.42+1G>A	1.37:g.36614938C>T		117.0	1.0		172.0	24.0	NM_001270894	A6NDN0|B2RDN2|D3DPS2	Missense_Mutation	SNP	ENST00000373166.3	37	CCDS404.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623242	0.46840	.	.	ENSG00000054116	ENST00000373166;ENST00000373159	.	.	.	5.25	5.25	0.73442	NO signalling/Golgi transport  ligand-binding domain (1);	0.073619	0.85682	D	0.000000	T	0.25457	0.0619	N	0.01417	-0.88	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19418	-1.0306	9	0.12766	T	0.61	-4.712	17.4184	0.87507	0.0:1.0:0.0:0.0	.	14	O43617	TPPC3_HUMAN	I	14	.	ENSP00000362253:M14I	M	-	3	0	TRAPPC3	36387525	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.517000	0.67061	2.443000	0.82685	0.462000	0.41574	ATG	.		0.682	TRAPPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020384.1	NM_014408	Missense_Mutation
TRIM49	57093	hgsc.bcm.edu;broad.mit.edu	37	11	89537604	89537604	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr11:89537604delC	ENST00000329758.1	-	3	362	c.34delG	c.(34-36)gaafs	p.E12fs	TRIM49_ENST00000532501.2_Frame_Shift_Del_p.E12fs	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	12						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CAGATGAGTTCCCCCTGAAAG	0.463																																					p.E12fs		.											.	TRIM49	84	0			c.34delG						.						14.0	15.0	15.0					11																	89537604		2155	4245	6400	SO:0001589	frameshift_variant	57093	exon3			TGAGTTCCCCCTG	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.34delG	11.37:g.89537604delC	ENSP00000327604:p.Glu12fs	438.0	0.0		394.0	36.0	NM_020358	A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Frame_Shift_Del	DEL	ENST00000329758.1	37	CCDS8287.1																																																																																			.		0.463	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358	
TRO	7216	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	54955568	54955598	+	Frame_Shift_Del	DEL	GTTTCAGCAGTGAAGCCAGCATTAGCTTTGG	GTTTCAGCAGTGAAGCCAGCATTAGCTTTGG	-	rs369090033		TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	GTTTCAGCAGTGAAGCCAGCATTAGCTTTGG	GTTTCAGCAGTGAAGCCAGCATTAGCTTTGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chrX:54955568_54955598delGTTTCAGCAGTGAAGCCAGCATTAGCTTTGG	ENST00000173898.7	+	12	2523_2553	c.2411_2441delGTTTCAGCAGTGAAGCCAGCATTAGCTTTGG	c.(2410-2442)agtttcagcagtgaagccagcattagctttggtfs	p.SFSSEASISFG804fs	TRO_ENST00000420798.2_Frame_Shift_Del_p.SFSSEASISFG335fs|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Frame_Shift_Del_p.SFSSEASISFG407fs|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|SNORA11_ENST00000408823.1_RNA	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	804	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ACCAGCACTAGTTTCAGCAGTGAAGCCAGCATTAGCTTTGGTGGCATGCCT	0.528																																					p.804_814del		.											.	TRO	131	0			c.2411_2441del						.																																			SO:0001589	frameshift_variant	7216	exon12			GCACTAGTTTCAG	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.2411_2441delGTTTCAGCAGTGAAGCCAGCATTAGCTTTGG	X.37:g.54955568_54955598delGTTTCAGCAGTGAAGCCAGCATTAGCTTTGG	ENSP00000173898:p.Ser804fs	136.0	0.0		145.0	0.0	NM_001039705	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Frame_Shift_Del	DEL	ENST00000173898.7	37	CCDS43959.1																																																																																			.		0.528	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157	
TSC2	7249	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	16	2098719	2098719	+	Nonsense_Mutation	SNP	C	C	T	rs137854105		TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr16:2098719C>T	ENST00000219476.3	+	2	733	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	TSC2_ENST00000353929.4_Nonsense_Mutation_p.Q35*|NTHL1_ENST00000219066.1_5'Flank|TSC2_ENST00000568454.1_Nonsense_Mutation_p.Q46*|TSC2_ENST00000350773.4_Nonsense_Mutation_p.Q35*|TSC2_ENST00000401874.2_Nonsense_Mutation_p.Q35*|TSC2_ENST00000439673.2_Nonsense_Mutation_p.Q35*|TSC2_ENST00000382538.6_Intron	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	35	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AGAGGGTAAACAGACGGAGTT	0.493			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																												p.Q35X		.	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	.	TSC2	1908	0			c.C103T						.						172.0	145.0	154.0					16																	2098719		2198	4299	6497	SO:0001587	stop_gained	7249	exon2	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	GGTAAACAGACGG	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.103C>T	16.37:g.2098719C>T	ENSP00000219476:p.Gln35*	227.0	0.0		264.0	59.0	NM_001114382	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Nonsense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768370	0.90020	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000350773;ENST00000445113	.	.	.	5.16	5.16	0.70880	.	0.211530	0.41294	D	0.000910	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-20.3627	18.6588	0.91465	0.0:1.0:0.0:0.0	.	.	.	.	X	35;35;35;35;35;46	.	ENSP00000219476:Q35X	Q	+	1	0	TSC2	2038720	1.000000	0.71417	0.921000	0.36526	0.909000	0.53808	5.108000	0.64609	2.403000	0.81681	0.563000	0.77884	CAG	.		0.493	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548	
TTBK1	84630	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	43230655	43230655	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr6:43230655T>A	ENST00000259750.4	+	13	1636	c.1553T>A	c.(1552-1554)gTg>gAg	p.V518E	TTBK1_ENST00000304139.5_Missense_Mutation_p.V467E	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	518					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TCAGCCTCTGTGGAGCAGGAG	0.642																																					p.V518E		.											.	TTBK1	353	0			c.T1553A						.						71.0	56.0	61.0					6																	43230655		2203	4300	6503	SO:0001583	missense	84630	exon13			CCTCTGTGGAGCA	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1553T>A	6.37:g.43230655T>A	ENSP00000259750:p.Val518Glu	117.0	1.0		156.0	26.0	NM_032538	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.788166	0.49997	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.52754	0.65	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	N	0.22421	0.69	0.40788	D	0.983237	D;B	0.64830	0.994;0.361	P;B	0.56343	0.796;0.08	T	0.40478	-0.9561	10	0.56958	D	0.05	.	12.7892	0.57523	0.0:0.0:0.0:1.0	.	41;518	Q9H6N8;Q5TCY1	.;TTBK1_HUMAN	E	467;518;467	ENSP00000259750:V518E	ENSP00000259750:V518E	V	+	2	0	TTBK1	43338633	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.846000	0.55888	2.020000	0.59435	0.352000	0.21897	GTG	.		0.642	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3		
TTN	7273	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179484372	179484372	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr2:179484372C>A	ENST00000591111.1	-	200	41973	c.41749G>T	c.(41749-41751)Gcc>Tcc	p.A13917S	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A6685S|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A12990S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A6618S|TTN_ENST00000460472.2_Missense_Mutation_p.A6493S|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A15558S			Q8WZ42	TITIN_HUMAN	titin	13917					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGCTCTGGCTTCTTTGTCT	0.383																																					p.A15558S		.											.	TTN	636	0			c.G46672T						.						158.0	156.0	157.0					2																	179484372		1854	4095	5949	SO:0001583	missense	7273	exon250			CTCTGGCTTCTTT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41749G>T	2.37:g.179484372C>A	ENSP00000465570:p.Ala13917Ser	312.0	1.0		314.0	48.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	15.97	2.990662	0.54041	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62364	0.03;0.25;0.22;0.22	5.79	5.79	0.91817	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64170	0.2574	N	0.04297	-0.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.74469	-0.3655	9	0.87932	D	0	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	6493;6618;6685;13917	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	12990;6493;6685;6618;6493	ENSP00000343764:A12990S;ENSP00000434586:A6493S;ENSP00000340554:A6685S;ENSP00000352154:A6618S	ENSP00000340554:A6685S	A	-	1	0	TTN	179192617	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.710000	0.84655	2.733000	0.93635	0.655000	0.94253	GCC	.		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
USP19	10869	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	49151699	49151699	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr3:49151699G>C	ENST00000398888.2	-	15	2320	c.2002C>G	c.(2002-2004)Ccg>Gcg	p.P668A	USP19_ENST00000488993.1_5'Flank|USP19_ENST00000434032.2_Missense_Mutation_p.P769A|USP19_ENST00000398892.3_Missense_Mutation_p.P708A|USP19_ENST00000453664.1_Missense_Mutation_p.P759A|USP19_ENST00000398896.1_Missense_Mutation_p.P476A|USP19_ENST00000417901.1_Missense_Mutation_p.P771A|USP19_ENST00000398898.2_Missense_Mutation_p.P708A	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	668	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TAAAGAAACGGGTCAAAAGTG	0.537																																					p.P771A		.											.	USP19	663	0			c.C2311G						.						71.0	77.0	75.0					3																	49151699		1977	4166	6143	SO:0001583	missense	10869	exon16			GAAACGGGTCAAA	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.2002C>G	3.37:g.49151699G>C	ENSP00000381863:p.Pro668Ala	132.0	0.0		200.0	39.0	NM_001199161	A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	G	32	5.149690	0.94645	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36	6.17	6.17	0.99709	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.64538	0.2607	M	0.75150	2.29	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.83275	0.996;0.996;0.983;0.992;0.994	T	0.63897	-0.6533	10	0.87932	D	0	-16.0913	20.8794	0.99867	0.0:0.0:1.0:0.0	.	769;759;668;708;476	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	A	476;708;771;759;708;668;769	ENSP00000381870:P476A;ENSP00000381872:P708A;ENSP00000395260:P771A;ENSP00000400090:P759A;ENSP00000381867:P708A;ENSP00000381863:P668A;ENSP00000401197:P769A	ENSP00000381863:P668A	P	-	1	0	USP19	49126703	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.896000	0.87350	2.941000	0.99782	0.655000	0.94253	CCG	.		0.537	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677	
VN1R2	317701	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	53761860	53761860	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr19:53761860T>G	ENST00000341702.3	+	1	316	c.232T>G	c.(232-234)Tct>Gct	p.S78A		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	78					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ctctcttgtctctgcacacgg	0.468																																					p.S78A		.											.	VN1R2	90	0			c.T232G						.						36.0	35.0	36.0					19																	53761860		2190	4283	6473	SO:0001583	missense	317701	exon1			CTTGTCTCTGCAC	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.232T>G	19.37:g.53761860T>G	ENSP00000351244:p.Ser78Ala	90.0	0.0		135.0	26.0	NM_173856	A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	T	4.435	0.080571	0.08533	.	.	ENSG00000196131	ENST00000341702	T	0.08984	3.03	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.40515	-0.9559	8	0.49607	T	0.09	.	.	.	.	.	78	Q8NFZ6	VN1R2_HUMAN	A	78	ENSP00000351244:S78A	ENSP00000351244:S78A	S	+	1	0	VN1R2	58453672	0.004000	0.15560	0.021000	0.16686	0.021000	0.10359	1.432000	0.34936	0.115000	0.18071	0.113000	0.15668	TCT	.		0.468	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856	
ZBED5	58486	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	10875696	10875696	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr11:10875696C>G	ENST00000432999.2	-	3	1295	c.797G>C	c.(796-798)aGa>aCa	p.R266T	ZBED5_ENST00000525350.1_Intron|ZBED5_ENST00000413761.2_Missense_Mutation_p.R266T	NM_001143667.1|NM_021211.3	NP_001137139.1|NP_067034.2	Q49AG3	ZBED5_HUMAN	zinc finger, BED-type containing 5	266							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)	4						aattttcagtctacaaacaag	0.378																																					p.R266T		.											.	.	.	0			c.G797C						.						117.0	95.0	102.0					11																	10875696		692	1591	2283	SO:0001583	missense	58486	exon3			TTCAGTCTACAAA	AF205601		11p15.3	2013-05-03			ENSG00000236287	ENSG00000236287		"""Zinc fingers, BED-type"""	30803	protein-coding gene	gene with protein product		615251				10607616, 23533661	Standard	NM_021211		Approved	Buster1	uc009ygh.3	Q49AG3	OTTHUMG00000150341	ENST00000432999.2:c.797G>C	11.37:g.10875696C>G	ENSP00000398106:p.Arg266Thr	216.0	0.0		215.0	12.0	NM_021211	B2RCC1|Q05D82|Q86WW3|Q9NT24|Q9UBJ4	Missense_Mutation	SNP	ENST00000432999.2	37		.	.	.	.	.	.	.	.	.	.	C	13.34	2.207205	0.39003	.	.	ENSG00000236287	ENST00000432999;ENST00000413761	T;T	0.09073	3.02;3.02	4.18	3.26	0.37387	Ribonuclease H-like (1);	0.000000	0.35615	N	0.003090	T	0.11067	0.0270	L	0.56769	1.78	0.26159	N	0.980036	P	0.44090	0.826	B	0.43783	0.431	T	0.09509	-1.0671	10	0.33141	T	0.24	.	10.3058	0.43680	0.0:0.8013:0.1987:0.0	.	266	Q49AG3	ZBED5_HUMAN	T	266	ENSP00000398106:R266T;ENSP00000415939:R266T	ENSP00000415939:R266T	R	-	2	0	ZBED5	10832272	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.453000	0.35167	1.327000	0.45338	0.650000	0.86243	AGA	.		0.378	ZBED5-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000317691.1	NM_021211	
ZGPAT	84619	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	62340061	62340061	+	Silent	SNP	G	G	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr20:62340061G>T	ENST00000328969.5	+	2	256	c.129G>T	c.(127-129)ctG>ctT	p.L43L	ARFRP1_ENST00000359715.5_5'Flank|ZGPAT_ENST00000369967.3_Silent_p.L43L|ZGPAT_ENST00000448100.2_Silent_p.L43L|RP4-583P15.15_ENST00000490623.2_5'Flank|ARFRP1_ENST00000324228.2_5'Flank|ARFRP1_ENST00000609142.1_5'Flank|ZGPAT_ENST00000355969.6_Silent_p.L43L|ARFRP1_ENST00000440854.1_5'Flank|ZGPAT_ENST00000357119.4_Silent_p.L43L|ARFRP1_ENST00000607873.1_5'Flank	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	43					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					AGGGGGACCTGAAGGAGCTCA	0.672																																					p.L43L		.											.	ZGPAT	90	0			c.G129T						.						38.0	41.0	40.0					20																	62340061		2203	4297	6500	SO:0001819	synonymous_variant	84619	exon2			GGACCTGAAGGAG	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.129G>T	20.37:g.62340061G>T		63.0	0.0		59.0	11.0	NM_032527	E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Silent	SNP	ENST00000328969.5	37	CCDS13534.1																																																																																			.		0.672	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484	
ZNF154	7710	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	58216279	58216279	+	Silent	SNP	A	A	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr19:58216279A>T	ENST00000512439.2	-	2	298	c.102T>A	c.(100-102)gcT>gcA	p.A34A	AC003006.7_ENST00000594684.1_Intron|ZNF154_ENST00000426889.1_Silent_p.A34A|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGCATCTTTGAGCCTCATCAA	0.502																																					p.A34A		.											.	ZNF154	90	0			c.T102A						.						181.0	171.0	175.0					19																	58216279		2203	4300	6503	SO:0001819	synonymous_variant	7710	exon2			TCTTTGAGCCTCA	U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"""Zinc fingers, C2H2-type"", ""-"""	12939	protein-coding gene	gene with protein product		604085	"""zinc finger protein 154 (pHZ-92)"""			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.102T>A	19.37:g.58216279A>T		314.0	0.0		266.0	30.0	NM_001085384	A7MCY3|Q8IVG7|Q8NAR0	Silent	SNP	ENST00000512439.2	37	CCDS42639.1																																																																																			.		0.502	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277102.2		
ZNF202	7753	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	123598880	123598880	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr11:123598880A>G	ENST00000529691.1	-	5	1012	c.793T>C	c.(793-795)Tat>Cat	p.Y265H	ZNF202_ENST00000336139.4_Missense_Mutation_p.Y265H|ZNF202_ENST00000530393.1_Missense_Mutation_p.Y265H			O95125	ZN202_HUMAN	zinc finger protein 202	265	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TCCAAGACATATTCTCCATAG	0.443																																					p.Y265H		.											.	ZNF202	91	0			c.T793C						.						118.0	107.0	111.0					11																	123598880		2202	4299	6501	SO:0001583	missense	7753	exon7			AGACATATTCTCC	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.793T>C	11.37:g.123598880A>G	ENSP00000433881:p.Tyr265His	227.0	0.0		238.0	13.0	NM_003455	B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	A	18.39	3.613970	0.66672	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.01767	4.65;4.65;4.65	4.58	4.58	0.56647	Krueppel-associated box (4);	0.000000	0.43579	D	0.000543	T	0.06600	0.0169	L	0.60455	1.87	0.35864	D	0.827721	D	0.76494	0.999	D	0.77004	0.989	T	0.46527	-0.9185	10	0.27082	T	0.32	-21.7355	10.2596	0.43419	1.0:0.0:0.0:0.0	.	265	O95125	ZN202_HUMAN	H	265	ENSP00000337724:Y265H;ENSP00000432504:Y265H;ENSP00000433881:Y265H	ENSP00000337724:Y265H	Y	-	1	0	ZNF202	123104090	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.524000	0.60552	1.929000	0.55896	0.459000	0.35465	TAT	.		0.443	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455	
ZNF202	7753	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	11	123600353	123600353	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr11:123600353C>A	ENST00000529691.1	-	3	802	c.583G>T	c.(583-585)Gaa>Taa	p.E195*	ZNF202_ENST00000336139.4_Nonsense_Mutation_p.E195*|ZNF202_ENST00000530393.1_Nonsense_Mutation_p.E195*			O95125	ZN202_HUMAN	zinc finger protein 202	195					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		AGCTCCTCTTCCTGGTGTGGA	0.617																																					p.E195X		.											.	ZNF202	91	0			c.G583T						.						49.0	43.0	45.0					11																	123600353		2202	4299	6501	SO:0001587	stop_gained	7753	exon5			CCTCTTCCTGGTG	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.583G>T	11.37:g.123600353C>A	ENSP00000433881:p.Glu195*	140.0	0.0		123.0	10.0	NM_003455	B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Nonsense_Mutation	SNP	ENST00000529691.1	37	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930758	0.92389	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	.	.	.	5.32	4.4	0.53042	.	0.143577	0.32093	N	0.006590	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-10.0485	8.9155	0.35579	0.0:0.9009:0.0:0.0991	.	.	.	.	X	195	.	ENSP00000337724:E195X	E	-	1	0	ZNF202	123105563	0.088000	0.21588	0.069000	0.20011	0.518000	0.34316	3.040000	0.49799	2.482000	0.83794	0.557000	0.71058	GAA	.		0.617	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455	
ZNF324B	388569	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	58967236	58967236	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr19:58967236G>T	ENST00000336614.4	+	4	1032	c.925G>T	c.(925-927)Ggc>Tgc	p.G309C	ZNF324B_ENST00000545523.1_Missense_Mutation_p.G309C|ZNF324B_ENST00000391696.1_Missense_Mutation_p.G299C	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	309					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CATCCACAGCGGCGAGACGCC	0.692																																					p.G309C		.											.	ZNF324B	91	0			c.G925T						.						19.0	18.0	18.0					19																	58967236		2116	4167	6283	SO:0001583	missense	388569	exon4			CACAGCGGCGAGA	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.925G>T	19.37:g.58967236G>T	ENSP00000337473:p.Gly309Cys	185.0	0.0		158.0	23.0	NM_207395	B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877387	0.51801	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.01629	4.72;4.72;4.72	3.22	2.14	0.27477	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42682	D	0.000665	T	0.09291	0.0229	M	0.83118	2.625	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.01786	-1.1274	10	0.87932	D	0	.	9.6711	0.40013	0.0:0.0:0.7916:0.2084	.	309;299	Q6AW86;C9JTQ8	Z324B_HUMAN;.	C	309;309;299	ENSP00000337473:G309C;ENSP00000438930:G309C;ENSP00000375578:G299C	ENSP00000337473:G309C	G	+	1	0	ZNF324B	63659048	0.432000	0.25554	0.086000	0.20670	0.944000	0.59088	1.881000	0.39638	0.649000	0.30751	0.591000	0.81541	GGC	.		0.692	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395	
ZNF407	55628	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	72775861	72775861	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr18:72775861C>T	ENST00000299687.5	+	8	6184	c.6184C>T	c.(6184-6186)Ccc>Tcc	p.P2062S		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2062					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGTGGTCCATCCCTCAGCAGC	0.682																																					p.P2062S		.											.	ZNF407	92	0			c.C6184T						.						38.0	44.0	42.0					18																	72775861		2085	4211	6296	SO:0001583	missense	55628	exon8			GTCCATCCCTCAG	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.6184C>T	18.37:g.72775861C>T	ENSP00000299687:p.Pro2062Ser	74.0	0.0		94.0	9.0	NM_017757	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	3.939	-0.014518	0.07681	.	.	ENSG00000215421	ENST00000299687	T	0.32988	1.43	4.42	3.53	0.40419	.	.	.	.	.	T	0.33933	0.0880	L	0.43757	1.38	0.58432	D	0.999997	P	0.50066	0.931	P	0.47673	0.554	T	0.32587	-0.9901	9	0.87932	D	0	.	14.3761	0.66879	0.0:0.8512:0.1487:0.0	.	2062	Q9C0G0	ZN407_HUMAN	S	2062	ENSP00000299687:P2062S	ENSP00000299687:P2062S	P	+	1	0	ZNF407	70904849	0.866000	0.29940	0.025000	0.17156	0.007000	0.05969	1.312000	0.33574	2.025000	0.59659	0.462000	0.41574	CCC	.		0.682	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
ZNF536	9745	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	30935048	30935048	+	Silent	SNP	C	C	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr19:30935048C>T	ENST00000355537.3	+	2	726	c.579C>T	c.(577-579)cgC>cgT	p.R193R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	193					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCGTGTGCGCGAGGAGAACC	0.692																																					p.R193R		.											.	ZNF536	144	0			c.C579T						.						17.0	13.0	15.0					19																	30935048		2193	4290	6483	SO:0001819	synonymous_variant	9745	exon2			TGTGCGCGAGGAG		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.579C>T	19.37:g.30935048C>T		32.0	0.0		50.0	12.0	NM_014717	A2RU18	Silent	SNP	ENST00000355537.3	37	CCDS32984.1																																																																																			.		0.692	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
ZP3	7784	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	76062261	76062261	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A114-01A-11D-A12Z-10	TCGA-DD-A114-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	90fc6786-22dd-4122-9622-6cd05c0f9f96	9d9f0180-5872-4882-ab29-986b29f4af7d	g.chr7:76062261G>T	ENST00000394857.3	+	3	507	c.449G>T	c.(448-450)aGc>aTc	p.S150I	ZP3_ENST00000336517.4_Missense_Mutation_p.S99I|ZP3_ENST00000416245.1_5'UTR	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	150	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						AATGTGAGCAGCCAGGCCATC	0.582																																					p.S150I		.											.	ZP3	90	0			c.G449T						.						89.0	74.0	79.0					7																	76062261		2203	4300	6503	SO:0001583	missense	7784	exon3			TGAGCAGCCAGGC	M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"""Zona pellucida glycoproteins"""	13189	protein-coding gene	gene with protein product		182889	"""zona pellucida glycoprotein 3A (sperm receptor)"""	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.449G>T	7.37:g.76062261G>T	ENSP00000378326:p.Ser150Ile	95.0	0.0		103.0	19.0	NM_001110354	Q06633|Q29RW0	Missense_Mutation	SNP	ENST00000394857.3	37	CCDS47618.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382218	0.82792	.	.	ENSG00000188372	ENST00000336517;ENST00000394857;ENST00000544121	D;D	0.82619	-1.63;-1.63	5.4	5.4	0.78164	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.92247	0.7541	M	0.91920	3.255	0.80722	D	1	D;P	0.62365	0.991;0.563	D;B	0.63381	0.914;0.345	D	0.93608	0.6936	10	0.66056	D	0.02	-41.2133	16.6568	0.85230	0.0:0.0:1.0:0.0	.	99;150	P21754-3;P21754	.;ZP3_HUMAN	I	99;150;150	ENSP00000337310:S99I;ENSP00000378326:S150I	ENSP00000337310:S99I	S	+	2	0	ZP3	75900197	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.459000	0.80802	2.536000	0.85505	0.561000	0.74099	AGC	.		0.582	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1		
