#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
NEURL1	9148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	105349295	105349295	+	Missense_Mutation	SNP	G	G	A	rs551936679	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr10:105349295G>A	ENST00000369780.4	+	5	1773	c.1364G>A	c.(1363-1365)gGt>gAt	p.G455D	SH3PXD2A_ENST00000427662.2_Intron|NEURL_ENST00000369777.2_Missense_Mutation_p.G438D	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		455					brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GCCGAGCGGGGTATCCCATCA	0.652																																																0													56.0	58.0	58.0					10																	105349295		2203	4300	6503	SO:0001583	missense	9148																														ENST00000369780.4:c.1364G>A	10.37:g.105349295G>A	ENSP00000358795:p.Gly455Asp		Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Missense_Mutation	SNP	ENST00000369780.4	37	CCDS7551.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746897	0.30955	.	.	ENSG00000107954	ENST00000369780;ENST00000369777	.	.	.	4.94	2.98	0.34508	.	0.443061	0.25146	N	0.032791	T	0.38054	0.1026	L	0.36672	1.1	0.80722	D	1	P	0.42827	0.791	B	0.37650	0.255	T	0.06752	-1.0809	9	0.32370	T	0.25	-29.2316	9.2489	0.37543	0.0:0.2431:0.5639:0.193	.	455	O76050	NEU1A_HUMAN	D	455;438	.	ENSP00000358792:G438D	G	+	2	0	NEURL	105339285	1.000000	0.71417	0.995000	0.50966	0.746000	0.42486	2.908000	0.48750	0.442000	0.26555	0.561000	0.74099	GGT		0.652	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			14	160	14	160
NRAP	4892	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	115380449	115380449	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr10:115380449C>T	ENST00000359988.3	-	25	3032	c.2788G>A	c.(2788-2790)Gtg>Atg	p.V930M	NRAP_ENST00000360478.3_Missense_Mutation_p.V895M|NRAP_ENST00000369360.3_Missense_Mutation_p.V903M|NRAP_ENST00000369358.4_Missense_Mutation_p.V938M	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATCCACTTCACATCTGCCCTG	0.478																																																0													136.0	126.0	129.0					10																	115380449		2203	4300	6503	SO:0001583	missense	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2788G>A	10.37:g.115380449C>T	ENSP00000353078:p.Val930Met			Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943704	0.34283	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	6.17	3.77	0.43336	.	0.190896	0.47455	N	0.000239	T	0.10465	0.0256	N	0.02539	-0.55	0.28533	N	0.912489	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.19391	0.011;0.025;0.011	T	0.07481	-1.0770	10	0.35671	T	0.21	.	2.1481	0.03792	0.281:0.4704:0.1169:0.1316	.	930;895;930	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	M	938;903;930;895	ENSP00000358365:V938M;ENSP00000358367:V903M;ENSP00000353078:V930M;ENSP00000353666:V895M	ENSP00000353078:V930M	V	-	1	0	NRAP	115370439	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.241000	0.43097	1.277000	0.44412	0.655000	0.94253	GTG		0.478	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		37	222	37	222
OOSP2	219990	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	59810975	59810975	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:59810975T>A	ENST00000278855.2	+	2	283	c.98T>A	c.(97-99)gTc>gAc	p.V33D	PLAC1L_ENST00000532905.1_Missense_Mutation_p.V2D	NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN		33				V -> A (in Ref. 1; BAC04191). {ECO:0000305}.		extracellular region (GO:0005576)				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TGGTTGATGGTCTCAGTTATC	0.393																																																0													126.0	124.0	124.0					11																	59810975		2201	4295	6496	SO:0001583	missense	219990																														ENST00000278855.2:c.98T>A	11.37:g.59810975T>A	ENSP00000278855:p.Val33Asp		E9PJA4|Q8N9U6	Missense_Mutation	SNP	ENST00000278855.2	37	CCDS7979.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.414344	0.42817	.	.	ENSG00000149507	ENST00000278855;ENST00000532905	.	.	.	3.18	3.18	0.36537	.	0.236875	0.21880	N	0.067747	T	0.52549	0.1741	L	0.60455	1.87	0.09310	N	1	D	0.69078	0.997	P	0.62184	0.899	T	0.37244	-0.9714	9	0.87932	D	0	-2.7039	8.1135	0.30928	0.0:0.0:0.0:1.0	.	33	Q86WS3	PLACL_HUMAN	D	33;2	.	ENSP00000278855:V33D	V	+	2	0	PLAC1L	59567551	0.957000	0.32711	0.014000	0.15608	0.050000	0.14768	2.521000	0.45563	1.686000	0.51046	0.455000	0.32223	GTC		0.393	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1			11	56	11	56
EXPH5	23086	hgsc.bcm.edu;broad.mit.edu	37	11	108380864	108380864	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:108380864G>T	ENST00000265843.4	-	6	5480	c.5370C>A	c.(5368-5370)caC>caA	p.H1790Q	EXPH5_ENST00000525344.1_Missense_Mutation_p.H1783Q|EXPH5_ENST00000443411.1_Missense_Mutation_p.H1602Q|EXPH5_ENST00000428840.1_Missense_Mutation_p.H1714Q	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1790					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AACGATAGAGGTGTGGCTCAG	0.463																																																0													91.0	99.0	96.0					11																	108380864		2201	4298	6499	SO:0001583	missense	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5370C>A	11.37:g.108380864G>T	ENSP00000265843:p.His1790Gln		Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351968	0.41700	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312	T;T;T;T;T	0.02944	4.33;4.25;4.1;4.33;4.17	6.17	-6.62	0.01813	.	0.929457	0.09177	N	0.837997	T	0.06371	0.0164	M	0.67953	2.075	0.09310	N	1	D	0.69078	0.997	D	0.69479	0.964	T	0.11792	-1.0573	10	0.23302	T	0.38	2.7778	0.763	0.01010	0.3028:0.2823:0.2261:0.1888	.	1790	Q8NEV8	EXPH5_HUMAN	Q	1790;1714;1602;1783;620;1714	ENSP00000265843:H1790Q;ENSP00000391966:H1714Q;ENSP00000411390:H1602Q;ENSP00000432546:H1783Q;ENSP00000432683:H1714Q	ENSP00000265843:H1790Q	H	-	3	2	EXPH5	107886074	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	-1.461000	0.02366	-1.023000	0.03342	0.655000	0.94253	CAC		0.463	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		16	151	16	151
ARHGEF12	23365	hgsc.bcm.edu;broad.mit.edu	37	11	120355176	120355176	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:120355176C>T	ENST00000397843.2	+	40	4750	c.4584C>T	c.(4582-4584)tgC>tgT	p.C1528C	ARHGEF12_ENST00000356641.3_Silent_p.C1509C|ARHGEF12_ENST00000532993.1_Silent_p.C1425C	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1528					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CCATTCTTTGCCAAAGGCTGG	0.378			T	MLL	AML																																		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													90.0	82.0	84.0					11																	120355176		1863	4103	5966	SO:0001819	synonymous_variant	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.4584C>T	11.37:g.120355176C>T			O15086|Q6P526	Silent	SNP	ENST00000397843.2	37	CCDS41727.1																																																																																				0.378	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		6	112	6	112
PYROXD1	79912	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	21615672	21615672	+	Splice_Site	SNP	A	A	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:21615672A>G	ENST00000240651.9	+	10	1047		c.e10-1		PYROXD1_ENST00000538582.1_Splice_Site	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1								oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						AATGTTGTTTAGTTTGATCTA	0.373																																																0													143.0	131.0	135.0					12																	21615672		2203	4300	6503	SO:0001630	splice_region_variant	79912			AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.994-1A>G	12.37:g.21615672A>G			A6NKI6|B3KWN8|Q9H6P1	Splice_Site	SNP	ENST00000240651.9	37	CCDS31755.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.318582	0.40996	.	.	ENSG00000121350	ENST00000536935;ENST00000240651;ENST00000538582	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.149	0.54040	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PYROXD1	21506939	1.000000	0.71417	0.998000	0.56505	0.470000	0.32858	8.273000	0.89887	1.867000	0.54127	0.533000	0.62120	.		0.373	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402363.1	NM_024854	Intron	28	96	28	96
KIF21A	55605	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	39761740	39761740	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:39761740G>C	ENST00000361418.5	-	4	560	c.545C>G	c.(544-546)aCt>aGt	p.T182S	KIF21A_ENST00000541463.2_Missense_Mutation_p.T182S|KIF21A_ENST00000544797.2_Missense_Mutation_p.T182S|KIF21A_ENST00000395670.3_Missense_Mutation_p.T182S|KIF21A_ENST00000361961.3_Missense_Mutation_p.T182S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	182	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)				AATTCCTCCAGTTGAATCTTC	0.313																																																0													98.0	111.0	107.0					12																	39761740		2202	4293	6495	SO:0001583	missense	55605			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.545C>G	12.37:g.39761740G>C	ENSP00000354878:p.Thr182Ser		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	3.782	-0.045447	0.07452	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83	5.8	5.8	0.92144	Kinesin, motor domain (4);	0.236117	0.29616	N	0.011645	T	0.55609	0.1931	N	0.05158	-0.105	0.24364	N	0.994864	B;B;B;B;B	0.28128	0.002;0.201;0.001;0.002;0.005	B;B;B;B;B	0.31442	0.012;0.13;0.012;0.005;0.001	T	0.31530	-0.9940	10	0.02654	T	1	.	20.0589	0.97667	0.0:0.0:1.0:0.0	.	182;182;182;182;182	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	S	182	ENSP00000354851:T182S;ENSP00000379029:T182S;ENSP00000445606:T182S;ENSP00000354878:T182S;ENSP00000438075:T182S	ENSP00000344501:T182S	T	-	2	0	KIF21A	38048007	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.657000	0.54474	2.732000	0.93576	0.650000	0.86243	ACT		0.313	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		21	235	21	235
RILPL1	353116	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	123983204	123983204	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:123983204C>T	ENST00000376874.4	-	4	923	c.688G>A	c.(688-690)Gag>Aag	p.E230K	RILPL1_ENST00000340724.6_Missense_Mutation_p.E78K	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	230					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		AGGTCTGCCTCCAGCTCCACC	0.627																																																0													90.0	94.0	93.0					12																	123983204		2071	4214	6285	SO:0001583	missense	353116			AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.688G>A	12.37:g.123983204C>T	ENSP00000366070:p.Glu230Lys		Q66K36|Q8N1M0	Missense_Mutation	SNP	ENST00000376874.4	37	CCDS45006.1	.	.	.	.	.	.	.	.	.	.	C	36	5.788990	0.96945	.	.	ENSG00000188026	ENST00000376874;ENST00000340724	T;T	0.23147	1.92;1.92	5.23	5.23	0.72850	.	0.112995	0.64402	D	0.000018	T	0.40956	0.1138	M	0.80422	2.495	0.80722	D	1	P;P;P	0.45531	0.86;0.717;0.86	P;B;P	0.44561	0.453;0.211;0.453	T	0.46843	-0.9162	10	0.56958	D	0.05	-8.5385	19.184	0.93635	0.0:1.0:0.0:0.0	.	206;230;79	Q5EBL4-2;Q5EBL4;Q5EBL4-3	.;RIPL1_HUMAN;.	K	230;78	ENSP00000366070:E230K;ENSP00000345874:E78K	ENSP00000345874:E78K	E	-	1	0	RILPL1	122549157	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.041000	0.70988	2.614000	0.88457	0.561000	0.74099	GAG		0.627	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1	NM_178314		50	175	50	175
KCNK13	56659	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	90650849	90650849	+	Silent	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr14:90650849G>A	ENST00000282146.4	+	2	1170	c.729G>A	c.(727-729)ctG>ctA	p.L243L		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	243					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TTGGGGACCTGGTCAGCAGCC	0.532																																																0													119.0	107.0	111.0					14																	90650849		2203	4300	6503	SO:0001819	synonymous_variant	56659			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.729G>A	14.37:g.90650849G>A			B5TJL8|Q96E79	Silent	SNP	ENST00000282146.4	37	CCDS9889.1																																																																																				0.532	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		25	36	25	36
DMXL2	23312	hgsc.bcm.edu;broad.mit.edu	37	15	51766595	51766595	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:51766595C>T	ENST00000251076.5	-	28	7443	c.7156G>A	c.(7156-7158)Gga>Aga	p.G2386R	DMXL2_ENST00000543779.2_Missense_Mutation_p.G2387R|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.G1750R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2386						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACACCGCCTCCAAAAACAGCA	0.368																																																0													58.0	63.0	61.0					15																	51766595		2196	4293	6489	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7156G>A	15.37:g.51766595C>T	ENSP00000251076:p.Gly2386Arg		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107236	0.94292	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.59906	0.3;0.3;0.23	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.78991	0.4371	M	0.81341	2.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;0.993	T	0.81178	-0.1051	10	0.87932	D	0	.	19.5897	0.95503	0.0:1.0:0.0:0.0	.	2387;1750;2386;2387	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	R	2386;2387;1750	ENSP00000251076:G2386R;ENSP00000441858:G2387R;ENSP00000400855:G1750R	ENSP00000251076:G2386R	G	-	1	0	DMXL2	49553887	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.487000	0.81328	2.635000	0.89317	0.655000	0.94253	GGA		0.368	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		8	103	8	103
MTFMT	123263	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	65312542	65312542	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:65312542C>T	ENST00000220058.4	-	5	727	c.714G>A	c.(712-714)gcG>gcA	p.A238A	MTFMT_ENST00000561025.1_5'Flank	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	238						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CACCGTAAGTCGCCCCCTCCA	0.413																																																0													36.0	40.0	39.0					15																	65312542		1972	4174	6146	SO:0001819	synonymous_variant	123263			AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.714G>A	15.37:g.65312542C>T			B7Z734	Silent	SNP	ENST00000220058.4	37	CCDS45280.1																																																																																				0.413	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242		7	40	7	40
SRCAP	10847	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	30732740	30732740	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:30732740C>G	ENST00000262518.4	+	21	3869	c.3484C>G	c.(3484-3486)Ccg>Gcg	p.P1162A	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1162A|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1162	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGTGCCAGCTCCGACTCCTGC	0.612																																																0													96.0	82.0	87.0					16																	30732740		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3484C>G	16.37:g.30732740C>G	ENSP00000262518:p.Pro1162Ala		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	7.457	0.643831	0.14451	.	.	ENSG00000080603	ENST00000262518;ENST00000395059	D;D	0.91686	-2.87;-2.89	5.26	3.32	0.38043	.	.	.	.	.	D	0.83431	0.5253	N	0.19112	0.55	0.80722	D	1	B;B	0.22683	0.073;0.044	B;B	0.23716	0.048;0.022	T	0.75808	-0.3187	9	0.41790	T	0.15	-1.5322	5.6643	0.17687	0.1442:0.6388:0.1395:0.0774	.	1162;1162	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	A	1162	ENSP00000262518:P1162A;ENSP00000378499:P1162A	ENSP00000262518:P1162A	P	+	1	0	SRCAP	30640241	0.007000	0.16637	0.976000	0.42696	0.456000	0.32438	0.438000	0.21559	0.790000	0.33803	0.563000	0.77884	CCG		0.612	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		42	107	42	107
SRCAP	10847	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	30734516	30734516	+	Silent	SNP	C	C	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:30734516C>G	ENST00000262518.4	+	24	4510	c.4125C>G	c.(4123-4125)ctC>ctG	p.L1375L	SRCAP_ENST00000395059.2_Silent_p.L1313L|SRCAP_ENST00000344771.4_Silent_p.L1217L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1375	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.L1375L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGCCTCTTCTCAAGCTGGTCC	0.602																																																1	Substitution - coding silent(1)	kidney(1)											91.0	85.0	87.0					16																	30734516		2197	4300	6497	SO:0001819	synonymous_variant	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4125C>G	16.37:g.30734516C>G			B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	CCDS10689.2																																																																																				0.602	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		93	234	93	234
C16orf46	123775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	81094882	81094882	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:81094882C>T	ENST00000299578.5	-	4	1307	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	C16orf46_ENST00000444657.3_5'Flank|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000378611.4_Missense_Mutation_p.A358T	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	358						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						TCCTGCTTGGCCTTTGGGAGA	0.498																																																0													156.0	148.0	151.0					16																	81094882		2202	4300	6502	SO:0001583	missense	0			BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.1072G>A	16.37:g.81094882C>T	ENSP00000299578:p.Ala358Thr		Q96MA7	Missense_Mutation	SNP	ENST00000299578.5	37	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945494	0.53079	.	.	ENSG00000166455	ENST00000378611;ENST00000444657;ENST00000299578	T;T	0.20069	2.1;2.1	5.05	0.713	0.18173	.	0.207876	0.33895	N	0.004455	T	0.13157	0.0319	L	0.34521	1.04	0.27937	N	0.937667	B;B	0.31705	0.336;0.336	B;B	0.35353	0.201;0.201	T	0.12760	-1.0535	10	0.37606	T	0.19	.	3.4518	0.07501	0.3053:0.442:0.0:0.2527	.	358;358	Q6P387-2;Q6P387	.;CP046_HUMAN	T	358;85;358	ENSP00000367874:A358T;ENSP00000299578:A358T	ENSP00000299578:A358T	A	-	1	0	C16orf46	79652383	0.254000	0.23992	0.442000	0.26870	0.596000	0.36781	-0.053000	0.11846	-0.021000	0.14009	0.563000	0.77884	GCC		0.498	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		19	157	19	157
PITPNM3	83394	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	6381927	6381927	+	Silent	SNP	T	T	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:6381927T>A	ENST00000262483.8	-	7	804	c.717A>T	c.(715-717)cgA>cgT	p.R239R	PITPNM3_ENST00000421306.3_Silent_p.R203R	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	239					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CCTGGTTGGCTCGCTCGATGA	0.632																																																0													81.0	70.0	74.0					17																	6381927		2203	4300	6503	SO:0001819	synonymous_variant	83394			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.717A>T	17.37:g.6381927T>A			A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	CCDS11076.1																																																																																				0.632	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		12	64	12	64
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	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;	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		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	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	9	20	9
CCL25	6370	hgsc.bcm.edu;ucsc.edu	37	19	8122747	8122747	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:8122747A>G	ENST00000390669.3	+	4	438	c.388A>G	c.(388-390)Agc>Ggc	p.S130G	CCL25_ENST00000315626.4_Nonstop_Mutation_p.*85W|CCL25_ENST00000253451.4_Missense_Mutation_p.S129G			O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	130					cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of cell-matrix adhesion (GO:0001954)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR10 chemokine receptor binding (GO:0031735)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|hormone activity (GO:0005179)			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						gtccaagtttagcaatcccat	0.463																																																0													144.0	135.0	138.0					19																	8122747		2002	4170	6172	SO:0001583	missense	6370			U86358	CCDS12194.1, CCDS56080.1	19p13.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000131142	ENSG00000131142		"""Chemokine ligands"", ""Endogenous ligands"""	10624	protein-coding gene	gene with protein product	"""Ck beta-15"", ""thymus expressed chemokine"", ""TECKvar"""	602565	"""small inducible cytokine subfamily A (Cys-Cys), member 25"""	SCYA25		9285413, 9722960	Standard	NM_005624		Approved	TECK, Ckb15	uc002mjd.3	O15444	OTTHUMG00000141287	ENST00000390669.3:c.388A>G	19.37:g.8122747A>G	ENSP00000375086:p.Ser130Gly		A1L4J4|A6NI52|A8K9E7|B5MCA5|Q96KJ7	Nonstop_Mutation	SNP	ENST00000390669.3	37	CCDS12194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.015|7.015	0.557578|0.557578	0.13436|0.13436	.|.	.|.	ENSG00000131142|ENSG00000131142	ENST00000253451;ENST00000390669|ENST00000315626	T;T|.	0.15139|.	2.46;2.45|.	1.17|1.17	1.17|1.17	0.20885|0.20885	.|.	.|.	.|.	.|.	.|.	T|.	0.25975|.	0.0633|.	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	P;P|.	0.44877|.	0.845;0.845|.	B;B|.	0.31442|.	0.13;0.13|.	T|.	0.21965|.	-1.0230|.	9|.	0.33940|.	T|.	0.23|.	-5.3842|-5.3842	4.5202|4.5202	0.11956|0.11956	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	130;129|.	O15444;A6NI52|.	CCL25_HUMAN;.|.	G|W	129;130|85	ENSP00000253451:S129G;ENSP00000375086:S130G|.	ENSP00000253451:S129G|.	S|X	+|+	1|2	0|0	CCL25|CCL25	8028747|8028747	0.001000|0.001000	0.12720|0.12720	0.005000|0.005000	0.12908|0.12908	0.117000|0.117000	0.20001|0.20001	0.328000|0.328000	0.19681|0.19681	0.790000|0.790000	0.33803|0.33803	0.254000|0.254000	0.18369|0.18369	AGC|TAG		0.463	CCL25-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280522.1	NM_005624		12	100	12	100
MUC16	94025	hgsc.bcm.edu;broad.mit.edu	37	19	9087885	9087885	+	Silent	SNP	A	A	G	rs374700399		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:9087885A>G	ENST00000397910.4	-	1	4133	c.3930T>C	c.(3928-3930)ccT>ccC	p.P1310P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1310	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTCTCTCCAGGAGCTGTCA	0.507																																																0								A		2,4118		0,2,2058	129.0	126.0	127.0		3930	0.4	0.0	19		127	0,8428		0,0,4214	no	coding-synonymous	MUC16	NM_024690.2		0,2,6272	GG,GA,AA		0.0,0.0485,0.0159		1310/14508	9087885	2,12546	2060	4214	6274	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3930T>C	19.37:g.9087885A>G			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	70	4	70
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	9089322	9089322	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:9089322C>T	ENST00000397910.4	-	1	2696	c.2493G>A	c.(2491-2493)tcG>tcA	p.S831S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	831	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTCTCTGACGATTCTGAAG	0.498																																																0													198.0	188.0	191.0					19																	9089322		2009	4174	6183	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2493G>A	19.37:g.9089322C>T			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		51	269	51	269
DOCK6	57572	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	11347158	11347158	+	Silent	SNP	G	G	A	rs534173253	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:11347158G>A	ENST00000294618.7	-	20	2267	c.2256C>T	c.(2254-2256)aaC>aaT	p.N752N	C19orf80_ENST00000591200.1_5'Flank|RN7SL298P_ENST00000581369.1_RNA|DOCK6_ENST00000319867.7_Silent_p.N56N	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	752					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCTGCTCCACGTTGCCCTCGC	0.647													G|||	2	0.000399361	0.0	0.0	5008	,	,		18929	0.0		0.0	False		,,,				2504	0.002															0													32.0	38.0	36.0					19																	11347158		2116	4219	6335	SO:0001819	synonymous_variant	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.2256C>T	19.37:g.11347158G>A			A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	ENST00000294618.7	37	CCDS45975.1																																																																																				0.647	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		3	10	3	10
ATAD3C	219293	hgsc.bcm.edu;broad.mit.edu	37	1	1386075	1386075	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr1:1386075C>T	ENST00000378785.2	+	1	1007	c.12C>T	c.(10-12)gaC>gaT	p.D4D		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	4							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGTCAAAGGACGCCCTGAATC	0.642																																																0													31.0	28.0	29.0					1																	1386075		692	1591	2283	SO:0001819	synonymous_variant	219293			AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"""ATPases / AAA-type"""	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.12C>T	1.37:g.1386075C>T			Q8N1Z5	Silent	SNP	ENST00000378785.2	37	CCDS44039.1																																																																																				0.642	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		5	22	5	22
OBSCN	84033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	228529180	228529180	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr1:228529180C>T	ENST00000422127.1	+	74	17943	c.17899C>T	c.(17899-17901)Cgc>Tgc	p.R5967C	OBSCN_ENST00000366707.4_Missense_Mutation_p.R3601C|OBSCN_ENST00000570156.2_Missense_Mutation_p.R6924C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5967C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3086C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5967	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGGATGACCGCGCCTTCGA	0.637																																																0													35.0	44.0	41.0					1																	228529180		2120	4219	6339	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.17899C>T	1.37:g.228529180C>T	ENSP00000409493:p.Arg5967Cys		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.09|19.09	3.760478|3.760478	0.69763|0.69763	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	.|T;T;T;T	.|0.11063	.|2.81;2.81;2.81;2.81	5.6|5.6	5.6|5.6	0.85130|0.85130	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.069794	.|0.64402	.|D	.|0.000018	T|T	0.23014|0.23014	0.0556|0.0556	L|L	0.37630|0.37630	1.12|1.12	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.69307	.|0.92;0.963	T|T	0.00197|0.00197	-1.1930|-1.1930	5|10	.|0.66056	.|D	.|0.02	.|.	14.4604|14.4604	0.67445|0.67445	0.1471:0.8529:0.0:0.0|0.1471:0.8529:0.0:0.0	.|.	.|5967;5967	.|Q5VST9;Q5VST9-3	.|OBSCN_HUMAN;.	L|C	583|5967;5967;3601;3086	.|ENSP00000284548:R5967C;ENSP00000409493:R5967C;ENSP00000355668:R3601C;ENSP00000355670:R3086C	.|ENSP00000284548:R5967C	P|R	+|+	2|1	0|0	OBSCN|OBSCN	226595803|226595803	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.199000|0.199000	0.23934|0.23934	2.916000|2.916000	0.48813|0.48813	2.649000|2.649000	0.89929|0.89929	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		20	33	20	33
JAG1	182	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	10624439	10624439	+	Silent	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:10624439G>A	ENST00000254958.5	-	20	2960	c.2445C>T	c.(2443-2445)ccC>ccT	p.P815P	JAG1_ENST00000423891.2_Silent_p.P656P|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	815	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TTCTGCAGTCGGGCCCAGCAA	0.498									Alagille Syndrome																																							0													69.0	55.0	60.0					20																	10624439		2203	4300	6503	SO:0001819	synonymous_variant	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2445C>T	20.37:g.10624439G>A			A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	CCDS13112.1																																																																																				0.498	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		24	55	24	55
SPTLC3	55304	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	13134724	13134724	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:13134724A>G	ENST00000399002.2	+	10	1628	c.1354A>G	c.(1354-1356)Atc>Gtc	p.I452V	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	452					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						GGGATTCATTATCTATGGCAA	0.428																																																0													170.0	161.0	164.0					20																	13134724		1934	4138	6072	SO:0001583	missense	55304			AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1354A>G	20.37:g.13134724A>G	ENSP00000381968:p.Ile452Val		A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	A	3.611	-0.079654	0.07141	.	.	ENSG00000172296	ENST00000399002	D	0.88586	-2.4	5.91	1.16	0.20824	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.194767	0.53938	N	0.000041	T	0.74336	0.3703	N	0.17345	0.48	0.80722	D	1	B	0.13594	0.008	B	0.17722	0.019	T	0.61412	-0.7068	10	0.02654	T	1	-4.7363	9.1142	0.36746	0.7036:0.0:0.2964:0.0	.	452	Q9NUV7	SPTC3_HUMAN	V	452	ENSP00000381968:I452V	ENSP00000381968:I452V	I	+	1	0	SPTLC3	13082724	1.000000	0.71417	0.994000	0.49952	0.877000	0.50540	1.839000	0.39220	-0.062000	0.13088	0.454000	0.30748	ATC		0.428	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		9	65	9	65
PROKR1	10887	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	68873428	68873428	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:68873428G>A	ENST00000303786.3	+	2	895	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	PROKR1_ENST00000394342.2_Missense_Mutation_p.A159T			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	159					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTGGCCATCGCCATTGACAG	0.592																																																0													66.0	62.0	63.0					2																	68873428		2203	4300	6503	SO:0001583	missense	10887			AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.475G>A	2.37:g.68873428G>A	ENSP00000303775:p.Ala159Thr		A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665439	0.88251	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.76186	-1.0;-1.0	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.142971	0.64402	D	0.000006	D	0.83390	0.5244	L	0.58302	1.8	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	D	0.84252	0.0478	10	0.66056	D	0.02	.	16.3321	0.83039	0.0:0.0:1.0:0.0	.	159	Q8TCW9	PKR1_HUMAN	T	159	ENSP00000303775:A159T;ENSP00000377874:A159T	ENSP00000303775:A159T	A	+	1	0	PROKR1	68726932	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	7.559000	0.82265	2.814000	0.96858	0.650000	0.86243	GCC		0.592	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			26	120	26	120
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			37	98	37	98
MLPH	79083	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	238449504	238449504	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:238449504C>T	ENST00000264605.3	+	11	1644	c.1350C>T	c.(1348-1350)gaC>gaT	p.D450D	MLPH_ENST00000445024.2_Silent_p.D450D|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000338530.4_Silent_p.D422D|MLPH_ENST00000410032.1_Silent_p.D307D|MLPH_ENST00000409373.1_Intron	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	450					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		ACCCTGGGGACCCCGTCCAGT	0.607																																																0													52.0	52.0	52.0					2																	238449504		2203	4298	6501	SO:0001819	synonymous_variant	79083			AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.1350C>T	2.37:g.238449504C>T			B3KSS2|B4DKW7|G5E9G5|Q9HA71	Silent	SNP	ENST00000264605.3	37	CCDS2518.1	.	.	.	.	.	.	.	.	.	.	C	3.888	-0.024652	0.07589	.	.	ENSG00000115648	ENST00000436965	.	.	.	4.86	1.7	0.24286	.	.	.	.	.	T	0.22244	0.0536	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.18650	-1.0330	4	.	.	.	-9.8058	2.3097	0.04183	0.3588:0.386:0.1554:0.0998	.	.	.	.	I	171	.	.	T	+	2	0	MLPH	238114243	0.002000	0.14202	0.002000	0.10522	0.036000	0.12997	-0.169000	0.09911	1.026000	0.39733	0.655000	0.94253	ACC		0.607	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		8	31	8	31
RAB17	64284	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	238483770	238483770	+	Splice_Site	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:238483770G>A	ENST00000264601.3	-	6	1160	c.531C>T	c.(529-531)gcC>gcT	p.A177A	RAB17_ENST00000409822.1_Splice_Site_p.A50A|RAB17_ENST00000409576.1_Intron|RAB17_ENST00000538644.1_Splice_Site_p.A50A	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	177					cilium assembly (GO:0042384)|endocytic recycling (GO:0032456)|establishment of melanosome localization (GO:0032401)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|melanosome transport (GO:0032402)|protein transport (GO:0015031)|regulation of dendrite development (GO:0050773)|regulation of filopodium assembly (GO:0051489)|regulation of synapse assembly (GO:0051963)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|melanosome (GO:0042470)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		GTAGCTCTTGGGCTGTGAACA	0.667																																					Colon(56;987 1029 6466 13943 27336)											0													30.0	32.0	31.0					2																	238483770		2203	4300	6503	SO:0001630	splice_region_variant	64284			AK022600	CCDS2520.1	2q37.3	2008-05-23			ENSG00000124839	ENSG00000124839		"""RAB, member RAS oncogene"""	16523	protein-coding gene	gene with protein product		602206				9624171	Standard	NM_022449		Approved		uc002vwz.2	Q9H0T7	OTTHUMG00000133299	ENST00000264601.3:c.530-1C>T	2.37:g.238483770G>A			Q53QV6|Q6IA73|Q6PJZ0|Q9BVU1|Q9H9U9	Splice_Site	SNP	ENST00000264601.3	37	CCDS2520.1																																																																																				0.667	RAB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257084.2		Silent	20	35	20	35
ITIH4	3700	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	52850942	52850942	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:52850942G>A	ENST00000266041.4	-	21	2525	c.2429C>T	c.(2428-2430)tCt>tTt	p.S810F	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000346281.5_Missense_Mutation_p.S794F|ITIH4_ENST00000485816.1_Missense_Mutation_p.S815F|ITIH4_ENST00000406595.1_Missense_Mutation_p.S780F	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	810					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTTGTACGCAGAGCTTCTTCG	0.577																																																0													176.0	177.0	177.0					3																	52850942		2203	4300	6503	SO:0001583	missense	3700			D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2429C>T	3.37:g.52850942G>A	ENSP00000266041:p.Ser810Phe		B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899467	0.33535	.	.	ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	5.47	4.59	0.56863	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.343274	0.25414	N	0.030854	T	0.28366	0.0701	L	0.59436	1.845	0.25589	N	0.986719	D;D;D;P	0.60575	0.988;0.957;0.979;0.889	P;P;P;P	0.59056	0.851;0.851;0.851;0.673	T	0.05649	-1.0872	10	0.72032	D	0.01	-10.533	12.4188	0.55508	0.0:0.1685:0.8315:0.0	.	780;815;810;794	E9PGN5;B7ZKJ8;Q14624;Q14624-2	.;.;ITIH4_HUMAN;.	F	810;794;815;780;768	ENSP00000266041:S810F;ENSP00000340520:S794F;ENSP00000417824:S815F;ENSP00000384425:S780F	ENSP00000266041:S810F	S	-	2	0	ITIH4	52825982	0.219000	0.23619	0.019000	0.16419	0.028000	0.11728	1.409000	0.34680	1.274000	0.44362	0.561000	0.74099	TCT		0.577	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		37	277	37	277
PPP2R3A	5523	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	135825112	135825112	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:135825112G>A	ENST00000264977.3	+	13	3894	c.3277G>A	c.(3277-3279)Gag>Aag	p.E1093K	PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E357K|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E472K|PPP2R3A_ENST00000469270.1_3'UTR	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	1093					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGCCGCTGAGGAGTATGAGAC	0.463																																																0													75.0	76.0	76.0					3																	135825112		2203	4300	6503	SO:0001583	missense	5523			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.3277G>A	3.37:g.135825112G>A	ENSP00000264977:p.Glu1093Lys		A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	G	37	6.048081	0.97236	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.42900	0.96;0.96;0.96	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.66157	0.2761	M	0.76433	2.335	0.80722	D	1	D;D	0.69078	0.997;0.987	D;D	0.67231	0.95;0.911	T	0.66118	-0.6003	10	0.62326	D	0.03	.	19.5352	0.95251	0.0:0.0:1.0:0.0	.	472;1093	Q06190-2;Q06190	.;P2R3A_HUMAN	K	1093;357;472	ENSP00000264977:E1093K;ENSP00000419344:E357K;ENSP00000334748:E472K	ENSP00000264977:E1093K	E	+	1	0	PPP2R3A	137307802	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.230000	0.95299	2.850000	0.98022	0.650000	0.86243	GAG		0.463	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		35	78	35	78
ATR	545	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	142224106	142224106	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:142224106C>T	ENST00000350721.4	-	29	5192	c.5071G>A	c.(5071-5073)Gga>Aga	p.G1691R	ATR_ENST00000383101.3_Missense_Mutation_p.G1627R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1691	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCACTGACTCCGGCCACTCCA	0.388								Other conserved DNA damage response genes																																								0													198.0	198.0	198.0					3																	142224106		2203	4300	6503	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.5071G>A	3.37:g.142224106C>T	ENSP00000343741:p.Gly1691Arg		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010810	0.93346	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.59364	0.27;0.27	5.54	5.54	0.83059	PIK-related kinase (1);Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.81240	0.4781	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84504	0.0618	10	0.87932	D	0	-21.6109	19.4874	0.95035	0.0:1.0:0.0:0.0	.	1691	Q13535	ATR_HUMAN	R	1691;1627	ENSP00000343741:G1691R;ENSP00000372581:G1627R	ENSP00000343741:G1691R	G	-	1	0	ATR	143706796	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.818000	0.86416	2.586000	0.87340	0.655000	0.94253	GGA		0.388	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		39	322	39	322
HSD17B4	3295	hgsc.bcm.edu;broad.mit.edu	37	5	118829578	118829578	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:118829578G>C	ENST00000256216.6	+	11	938	c.805G>C	c.(805-807)Gtc>Ctc	p.V269L	HSD17B4_ENST00000504811.1_Missense_Mutation_p.V294L|HSD17B4_ENST00000509514.1_5'UTR|HSD17B4_ENST00000513628.1_Missense_Mutation_p.V132L|HSD17B4_ENST00000515320.1_Missense_Mutation_p.V251L|HSD17B4_ENST00000510025.1_Missense_Mutation_p.V245L|HSD17B4_ENST00000414835.2_Missense_Mutation_p.V129L	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	269	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TCCTGAGGCAGTCAAGGCTAA	0.473																																					Colon(35;490 801 34689 41394 43344)											0													88.0	86.0	87.0					5																	118829578		2202	4300	6502	SO:0001583	missense	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.805G>C	5.37:g.118829578G>C	ENSP00000256216:p.Val269Leu		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177301	0.78564	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.38	5.38	0.77491	.	0.056465	0.64402	D	0.000001	D	0.88463	0.6443	M	0.75150	2.29	0.80722	D	1	B;B;B;B	0.31054	0.101;0.082;0.042;0.306	B;B;B;B	0.24394	0.051;0.018;0.023;0.053	D	0.87438	0.2393	10	0.49607	T	0.09	-15.8602	17.9051	0.88916	0.0:0.0:1.0:0.0	.	294;251;245;269	F5HE57;E9PB82;E7EWE5;P51659	.;.;.;DHB4_HUMAN	L	269;251;245;294;129;132	ENSP00000256216:V269L;ENSP00000424613:V251L;ENSP00000424940:V245L;ENSP00000420914:V294L;ENSP00000411960:V129L;ENSP00000425993:V132L	ENSP00000256216:V269L	V	+	1	0	HSD17B4	118857477	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	7.536000	0.82023	2.506000	0.84524	0.563000	0.77884	GTC		0.473	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		5	72	5	72
RAPGEF6	51735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	130825275	130825275	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:130825275T>C	ENST00000509018.1	-	15	2009	c.1804A>G	c.(1804-1806)Act>Gct	p.T602A	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T602A|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.T317A|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T602A|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.T652A|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T602A|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.T602A|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T602A	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	602	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143, ECO:0000305}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GCAAGATGAGTATTATTCCTC	0.269																																					Melanoma(168;435 1955 13113 13877 23213)											0													69.0	73.0	71.0					5																	130825275		2202	4291	6493	SO:0001583	missense	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1804A>G	5.37:g.130825275T>C	ENSP00000421684:p.Thr602Ala		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.870345	0.91587	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.32753	2.28;2.28;2.28;2.28;2.28;2.28;1.44;2.28	5.73	5.73	0.89815	PDZ/DHR/GLGF (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	L	0.37466	1.105	0.80722	D	1	P;P;P;D;P;P;P	0.63046	0.846;0.927;0.712;0.992;0.846;0.953;0.774	P;P;B;D;P;P;P	0.66497	0.781;0.781;0.396;0.944;0.781;0.674;0.705	T	0.42137	-0.9469	10	0.72032	D	0.01	.	16.0152	0.80434	0.0:0.0:0.0:1.0	.	602;602;602;317;652;602;602	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	A	602;602;602;602;602;317;602;602;652	ENSP00000421684:T602A;ENSP00000309298:T602A;ENSP00000426081:T602A;ENSP00000296859:T602A;ENSP00000426910:T317A;ENSP00000311419:T602A;ENSP00000425389:T602A;ENSP00000426948:T652A	ENSP00000426948:T652A	T	-	1	0	RAPGEF6;FNIP1	130853174	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.180000	0.69256	0.533000	0.62120	ACT		0.269	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		10	18	10	18
PCDHA11	56138	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	140249832	140249832	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:140249832G>A	ENST00000398640.2	+	1	1144	c.1144G>A	c.(1144-1146)Gga>Aga	p.G382R	PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	382	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)			AGGTGTCAACGGACAGGTGAC	0.602																																																0													109.0	99.0	102.0					5																	140249832		2203	4300	6503	SO:0001583	missense	56138			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.1144G>A	5.37:g.140249832G>A	ENSP00000381636:p.Gly382Arg		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623917	0.46840	.	.	ENSG00000249158	ENST00000398640	T	0.24538	1.85	5.85	5.85	0.93711	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58836	0.2150	M	0.85777	2.775	0.42234	D	0.991905	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62431	-0.6856	9	0.62326	D	0.03	.	19.7493	0.96261	0.0:0.0:1.0:0.0	.	382;382	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	R	382	ENSP00000381636:G382R	ENSP00000381636:G382R	G	+	1	0	PCDHA11	140230016	1.000000	0.71417	0.979000	0.43373	0.254000	0.26022	4.502000	0.60400	2.767000	0.95098	0.563000	0.77884	GGA		0.602	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		18	125	18	125
FAT2	2196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	150924794	150924794	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:150924794C>A	ENST00000261800.5	-	9	5906	c.5894G>T	c.(5893-5895)aGc>aTc	p.S1965I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1965					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAACTGCAAGCTTTTGTCAAG	0.483																																																0													55.0	58.0	57.0					5																	150924794		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5894G>T	5.37:g.150924794C>A	ENSP00000261800:p.Ser1965Ile		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	9.738	1.164070	0.21538	.	.	ENSG00000086570	ENST00000261800	T	0.61627	0.09	5.08	1.76	0.24704	Cadherin (2);Cadherin-like (1);	0.700945	0.13462	N	0.386021	T	0.48187	0.1486	L	0.58810	1.83	0.09310	N	1	P	0.45902	0.868	B	0.36666	0.23	T	0.33904	-0.9850	10	0.48119	T	0.1	.	9.5374	0.39231	0.0:0.5032:0.3891:0.1078	.	1965	Q9NYQ8	FAT2_HUMAN	I	1965	ENSP00000261800:S1965I	ENSP00000261800:S1965I	S	-	2	0	FAT2	150904987	0.003000	0.15002	0.575000	0.28536	0.948000	0.59901	0.591000	0.23969	0.365000	0.24400	0.491000	0.48974	AGC		0.483	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		9	43	9	43
ITPR3	3710	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	33656101	33656101	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:33656101G>A	ENST00000374316.5	+	49	7521	c.6461G>A	c.(6460-6462)cGg>cAg	p.R2154Q	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2154Q			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2154					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	ACCAAGCACCGGCTCTTCACC	0.597																																																0													110.0	93.0	99.0					6																	33656101		2203	4300	6503	SO:0001583	missense	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6461G>A	6.37:g.33656101G>A	ENSP00000363435:p.Arg2154Gln		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	37	5.981936	0.97168	.	.	ENSG00000096433	ENST00000374316	D	0.91945	-2.94	5.53	5.53	0.82687	.	0.066724	0.64402	D	0.000012	D	0.91801	0.7406	L	0.47716	1.5	0.58432	D	0.999999	D;P	0.63046	0.992;0.85	P;B	0.53035	0.716;0.123	D	0.92048	0.5646	10	0.59425	D	0.04	-37.1723	19.4641	0.94931	0.0:0.0:1.0:0.0	.	2154;1824	Q14573;Q59ES2	ITPR3_HUMAN;.	Q	2154	ENSP00000363435:R2154Q	ENSP00000363435:R2154Q	R	+	2	0	ITPR3	33764079	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.854000	0.99522	2.594000	0.87642	0.650000	0.86243	CGG		0.597	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		48	138	48	138
SLC17A5	26503	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	74354177	74354177	+	Missense_Mutation	SNP	C	C	A	rs199727701		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:74354177C>A	ENST00000355773.5	-	2	512	c.244G>T	c.(244-246)Gcg>Tcg	p.A82S	SLC17A5_ENST00000393019.3_Missense_Mutation_p.A82S|SLC17A5_ENST00000481996.1_5'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	82					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTGGACACGCCTTGGAAGTT	0.348																																																0													75.0	73.0	74.0					6																	74354177		2203	4300	6503	SO:0001583	missense	26503			AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.244G>T	6.37:g.74354177C>A	ENSP00000348019:p.Ala82Ser		Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	37	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.403341	0.42613	.	.	ENSG00000119899	ENST00000355773;ENST00000393019	T;T	0.81078	-0.22;-1.45	5.61	5.61	0.85477	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.367176	0.27991	N	0.017039	T	0.33089	0.0851	N	0.01515	-0.825	0.09310	N	1	B	0.12630	0.006	B	0.15052	0.012	T	0.09400	-1.0676	10	0.09590	T	0.72	.	12.0062	0.53261	0.0:0.9214:0.0:0.0785	.	82	Q9NRA2	S17A5_HUMAN	S	82	ENSP00000348019:A82S;ENSP00000376742:A82S	ENSP00000348019:A82S	A	-	1	0	SLC17A5	74410898	0.256000	0.24012	0.780000	0.31762	0.700000	0.40528	2.143000	0.42187	2.625000	0.88918	0.591000	0.81541	GCG		0.348	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			13	46	13	46
ENPP3	5169	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	131996232	131996232	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:131996232G>A	ENST00000414305.1	+	10	1103	c.775G>A	c.(775-777)Gca>Aca	p.A259T	ENPP3_ENST00000358229.5_Missense_Mutation_p.A259T|ENPP3_ENST00000543135.1_Missense_Mutation_p.A225T|ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.A259T			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	259	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GTGGCTGACAGCAATGTATCA	0.388																																																0													88.0	84.0	85.0					6																	131996232		2203	4300	6503	SO:0001583	missense	5169			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.775G>A	6.37:g.131996232G>A	ENSP00000406261:p.Ala259Thr		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702392	0.88924	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000543135;ENST00000358229	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.52	5.52	0.82312	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	D	0.000004	D	0.86892	0.6042	M	0.83852	2.665	0.80722	D	1	D	0.60575	0.988	D	0.67382	0.951	D	0.87253	0.2274	10	0.52906	T	0.07	-20.5185	18.2047	0.89851	0.0:0.0:1.0:0.0	.	259	O14638	ENPP3_HUMAN	T	259;259;225;259	ENSP00000406261:A259T;ENSP00000350265:A259T;ENSP00000440810:A225T;ENSP00000350964:A259T	ENSP00000350265:A259T	A	+	1	0	ENPP3	132037925	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.696000	0.84270	2.585000	0.87301	0.442000	0.29010	GCA		0.388	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			13	49	13	49
MAP7	9053	hgsc.bcm.edu;ucsc.edu	37	6	136709623	136709623	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:136709623C>T	ENST00000354570.3	-	5	844	c.434G>A	c.(433-435)cGc>cAc	p.R145H	MAP7_ENST00000454590.1_Missense_Mutation_p.R167H|MAP7_ENST00000438100.2_Missense_Mutation_p.R167H|MAP7_ENST00000544465.1_Missense_Mutation_p.R130H|MAP7_ENST00000432797.2_5'UTR	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	145					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TTCCATTGTGCGCCGTACAAC	0.498																																																0													216.0	177.0	190.0					6																	136709623		2203	4300	6503	SO:0001583	missense	9053			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.434G>A	6.37:g.136709623C>T	ENSP00000346581:p.Arg145His		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108934	0.77096	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100	T;T;T;T	0.42131	0.98;2.67;0.98;2.67	6.06	6.06	0.98353	.	0.000000	0.56097	D	0.000037	T	0.68081	0.2962	M	0.87827	2.91	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.997;0.997;0.999;0.997;0.996;0.999;0.997	T	0.71596	-0.4545	10	0.87932	D	0	-10.5256	20.6208	0.99490	0.0:1.0:0.0:0.0	.	167;167;130;167;167;145;145	B7Z290;B7ZB64;F5H1E2;E9PCP3;B7Z400;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	H	145;167;130;167	ENSP00000346581:R145H;ENSP00000414712:R167H;ENSP00000445737:R130H;ENSP00000400790:R167H	ENSP00000346581:R145H	R	-	2	0	MAP7	136751316	1.000000	0.71417	0.248000	0.24265	0.602000	0.36980	5.512000	0.67030	2.882000	0.98803	0.655000	0.94253	CGC		0.498	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		16	52	16	52
ABCA13	154664	hgsc.bcm.edu;broad.mit.edu	37	7	48313892	48313892	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr7:48313892T>G	ENST00000435803.1	+	17	4653	c.4629T>G	c.(4627-4629)atT>atG	p.I1543M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1543					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCAAAATATTTGGCTTCATT	0.299																																																0													44.0	45.0	44.0					7																	48313892		1803	4051	5854	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4629T>G	7.37:g.48313892T>G	ENSP00000411096:p.Ile1543Met		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.950430	0.34377	.	.	ENSG00000179869	ENST00000435803	D	0.86694	-2.16	5.28	-4.13	0.03904	.	1.014930	0.07910	N	0.974119	T	0.81118	0.4756	L	0.56769	1.78	0.23636	N	0.997233	P	0.35982	0.531	B	0.39185	0.293	T	0.69716	-0.5070	9	.	.	.	.	2.416	0.04436	0.1248:0.3567:0.128:0.3905	.	1543	Q86UQ4	ABCAD_HUMAN	M	1543	ENSP00000411096:I1543M	.	I	+	3	3	ABCA13	48284438	0.002000	0.14202	0.652000	0.29579	0.491000	0.33493	-0.301000	0.08232	-0.265000	0.09352	0.460000	0.39030	ATT		0.299	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		7	65	7	65
ANK1	286	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	41552258	41552258	+	Missense_Mutation	SNP	G	G	A	rs267601925		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr8:41552258G>A	ENST00000347528.4	-	28	3262	c.3179C>T	c.(3178-3180)cCg>cTg	p.P1060L	ANK1_ENST00000396945.1_Missense_Mutation_p.P1060L|ANK1_ENST00000265709.8_Missense_Mutation_p.P1101L|ANK1_ENST00000289734.7_Missense_Mutation_p.P1060L|ANK1_ENST00000352337.4_Missense_Mutation_p.P1060L|ANK1_ENST00000396942.1_Missense_Mutation_p.P1060L|ANK1_ENST00000379758.2_Missense_Mutation_p.P1060L	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1060	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAAGTACAGCGGGAAGTCGGT	0.602																																																0													181.0	146.0	158.0					8																	41552258		2203	4300	6503	SO:0001583	missense	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.3179C>T	8.37:g.41552258G>A	ENSP00000339620:p.Pro1060Leu		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647346	0.87958	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.71579	-0.55;-0.54;-0.52;-0.51;-0.52;-0.5;-0.58	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.84924	0.5580	M	0.79258	2.445	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	1.0;1.0;1.0;1.0;1.0;1.0	D	0.86873	0.2037	10	0.87932	D	0	.	18.7799	0.91928	0.0:0.0:1.0:0.0	.	1101;1060;1060;1060;1060;376	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	L	1060;1060;1060;1060;1060;1060;1101;1060	ENSP00000339620:P1060L;ENSP00000289734:P1060L;ENSP00000369082:P1060L;ENSP00000380149:P1060L;ENSP00000380147:P1060L;ENSP00000309131:P1060L;ENSP00000265709:P1101L	ENSP00000265709:P1101L	P	-	2	0	ANK1	41671415	1.000000	0.71417	0.996000	0.52242	0.588000	0.36517	9.813000	0.99286	2.495000	0.84180	0.462000	0.41574	CCG		0.602	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		17	90	17	90
ZNF484	83744	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	95610656	95610656	+	Missense_Mutation	SNP	C	C	T	rs139334933		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr9:95610656C>T	ENST00000375495.3	-	5	561	c.413G>A	c.(412-414)cGt>cAt	p.R138H	ZNF484_ENST00000395505.2_Missense_Mutation_p.R102H|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.R102H|ZNF484_ENST00000395506.3_Missense_Mutation_p.R140H	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	138					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)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GAAGACAACACGACTTAAAGG	0.368																																																0								C	HIS/ARG,HIS/ARG	1,4405		0,1,2202	216.0	210.0	212.0		305,413	-3.9	0.0	9	dbSNP_134	212	1,8599		0,1,4299	no	missense,missense	ZNF484	NM_001007101.1,NM_031486.1	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	102/817,138/853	95610656	2,13004	2203	4300	6503	SO:0001583	missense	83744			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.413G>A	9.37:g.95610656C>T	ENSP00000364645:p.Arg138His		B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.216339	0.00286	2.27E-4	1.16E-4	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.06294	3.32;3.42;3.44;3.32	2.94	-3.86	0.04230	.	.	.	.	.	T	0.02083	0.0065	N	0.01874	-0.695	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.44620	-0.9316	9	0.37606	T	0.19	.	5.4162	0.16376	0.0:0.477:0.1881:0.3349	.	140;138	B4DRI2;Q5JVG2	.;ZN484_HUMAN	H	102;140;138;102	ENSP00000378881:R102H;ENSP00000378882:R140H;ENSP00000364645:R138H;ENSP00000364646:R102H	ENSP00000364646:R102H	R	-	2	0	ZNF484	94650477	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.335000	0.07873	-0.941000	0.03700	-1.047000	0.02352	CGT		0.368	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		44	74	44	74
TUBB4B	10383	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	140137441	140137441	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr9:140137441G>C	ENST00000340384.4	+	4	919	c.771G>C	c.(769-771)atG>atC	p.M257I		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	257					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)									Albendazole(DB00518)|Mebendazole(DB00643)	CTGTGAACATGGTCCCGTTTC	0.652																																																0													32.0	33.0	32.0					9																	140137441		2202	4298	6500	SO:0001583	missense	10383			BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"""Tubulins"""	20771	protein-coding gene	gene with protein product	"""class IVb beta-tubulin"""	602660	"""tubulin, beta 2C"""	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.771G>C	9.37:g.140137441G>C	ENSP00000341289:p.Met257Ile		A2BFA2|P05217	Missense_Mutation	SNP	ENST00000340384.4	37	CCDS7039.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630774	0.28978	.	.	ENSG00000188229	ENST00000340384	D	0.83837	-1.77	5.57	5.57	0.84162	.	0.051329	0.64402	D	0.000001	D	0.89656	0.6778	H	0.95950	3.745	0.80722	D	1	B	0.13145	0.007	B	0.22880	0.042	D	0.88420	0.3028	10	0.87932	D	0	.	18.1378	0.89627	0.0:0.0:1.0:0.0	.	257	P68371	TBB4B_HUMAN	I	257	ENSP00000341289:M257I	ENSP00000341289:M257I	M	+	3	0	TUBB2C	139257262	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	7.809000	0.86057	2.625000	0.88918	0.655000	0.94253	ATG		0.652	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088		6	43	6	43
MCTS1	28985	hgsc.bcm.edu;broad.mit.edu	37	X	119739938	119739938	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:119739938G>A	ENST00000371317.5	+	3	426	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	MCTS1_ENST00000487133.1_3'UTR|MCTS1_ENST00000371315.3_Missense_Mutation_p.E58K	NM_014060.2	NP_054779.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	57					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|formation of translation preinitiation complex (GO:0001731)|IRES-dependent translational initiation (GO:0002192)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|ribosome disassembly (GO:0032790)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						TTACAGCCATGAACATATAGA	0.299																																																0													45.0	42.0	43.0					X																	119739938		2200	4285	6485	SO:0001583	missense	28985			AB034206	CCDS14601.1, CCDS48160.1	Xq24	2008-05-14			ENSG00000232119	ENSG00000232119			23357	protein-coding gene	gene with protein product		300587				9766643	Standard	NM_014060		Approved	MCT-1	uc011mub.2	Q9ULC4	OTTHUMG00000022303	ENST00000371317.5:c.169G>A	X.37:g.119739938G>A	ENSP00000360367:p.Glu57Lys		B4DGY2|Q502X6	Missense_Mutation	SNP	ENST00000371317.5	37	CCDS14601.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005321	0.74932	.	.	ENSG00000232119	ENST00000371317;ENST00000371315	T;T	0.45276	0.9;0.9	5.41	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.43277	0.1240	M	0.73962	2.25	0.80722	D	1	B;B	0.32031	0.352;0.158	B;B	0.31751	0.135;0.064	T	0.40079	-0.9582	9	.	.	.	-29.4474	12.7119	0.57094	0.0827:0.0:0.9173:0.0	.	58;57	Q9ULC4-3;Q9ULC4	.;MCTS1_HUMAN	K	57;58	ENSP00000360367:E57K;ENSP00000360365:E58K	.	E	+	1	0	MCTS1	119623966	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.830000	0.86741	2.264000	0.75181	0.600000	0.82982	GAA		0.299	MCTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058110.1	NM_014060		4	60	4	60
GRIA3	2892	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	122538740	122538740	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:122538740G>A	ENST00000371251.1	+	10	1527	c.1475G>A	c.(1474-1476)gGc>gAc	p.G492D	GRIA3_ENST00000542149.1_Missense_Mutation_p.G492D|GRIA3_ENST00000541091.1_Missense_Mutation_p.G476D|GRIA3_ENST00000371256.5_Missense_Mutation_p.G492D|GRIA3_ENST00000264357.5_Missense_Mutation_p.G492D			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	492					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	ATATGGAACGGCATGGTTGGG	0.378																																																0													201.0	178.0	186.0					X																	122538740		2203	4300	6503	SO:0001583	missense	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1475G>A	X.37:g.122538740G>A	ENSP00000360297:p.Gly492Asp		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800993	0.90538	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86;-3.86	5.53	5.53	0.82687	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.98779	0.9589	H	0.98594	4.275	0.80722	D	1	D;D;D	0.89917	0.987;1.0;1.0	D;D;D	0.91635	0.969;0.999;0.998	D	0.99683	1.0999	10	0.87932	D	0	.	17.5436	0.87855	0.0:0.0:1.0:0.0	.	476;492;492	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	D	492;492;492;492;476	ENSP00000264357:G492D;ENSP00000446146:G492D;ENSP00000360302:G492D;ENSP00000360297:G492D;ENSP00000446440:G476D	ENSP00000264357:G492D	G	+	2	0	GRIA3	122366421	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.813000	0.99286	2.445000	0.82738	0.594000	0.82650	GGC		0.378	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		44	337	44	337
DCAF12L2	340578	hgsc.bcm.edu;broad.mit.edu	37	X	125299120	125299120	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:125299120C>T	ENST00000360028.2	-	1	814	c.788G>A	c.(787-789)cGc>cAc	p.R263H	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R263H			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	263										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCGTACCTTGCGGTTGCTGGG	0.637																																																0													38.0	43.0	41.0					X																	125299120		2203	4300	6503	SO:0001583	missense	340578			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.788G>A	X.37:g.125299120C>T	ENSP00000353128:p.Arg263His		B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	8.890	0.953815	0.18431	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.63255	-0.03;-0.03	3.72	1.94	0.25998	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.549990	0.13431	N	0.388455	T	0.52837	0.1759	L	0.57536	1.79	0.21697	N	0.999583	B	0.15719	0.014	B	0.10450	0.005	T	0.45308	-0.9270	10	0.40728	T	0.16	.	5.2143	0.15334	0.0:0.7235:0.0:0.2765	.	263	Q5VW00	DC122_HUMAN	H	263	ENSP00000441489:R263H;ENSP00000353128:R263H	ENSP00000353128:R263H	R	-	2	0	DCAF12L2	125126801	1.000000	0.71417	0.018000	0.16275	0.687000	0.40016	3.728000	0.54991	0.382000	0.24878	0.544000	0.68410	CGC		0.637	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		5	64	5	64
GABRA3	2556	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	151336862	151336862	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:151336862C>T	ENST00000370314.4	-	10	1555	c.1317G>A	c.(1315-1317)gtG>gtA	p.V439V	GABRA3_ENST00000535043.1_Silent_p.V439V|RP11-329E24.6_ENST00000453915.1_RNA	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	439					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGCTGTCCTGCACGTAGGTGG	0.522																																					NSCLC(142;2578 2613 10251 16743)											0													293.0	230.0	251.0					X																	151336862		2203	4300	6503	SO:0001819	synonymous_variant	2556				CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1317G>A	X.37:g.151336862C>T			Q8TAF9	Silent	SNP	ENST00000370314.4	37	CCDS14706.1																																																																																				0.522	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		93	253	93	253
LAMC3	10319	broad.mit.edu;ucsc.edu	37	9	133932363	133932363	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr9:133932363C>T	ENST00000361069.4	+	12	2120	c.1987C>T	c.(1987-1989)Ctt>Ttt	p.L663F	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	663	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCGGCCAGGGCTTTCCCCGCC	0.607																																																0													68.0	74.0	72.0					9																	133932363		2203	4300	6503	SO:0001583	missense	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1987C>T	9.37:g.133932363C>T	ENSP00000354360:p.Leu663Phe		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329939	0.41297	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.35973	1.28	4.95	4.05	0.47172	Laminin B type IV (2);	0.736619	0.12956	N	0.425434	T	0.38453	0.1041	M	0.63428	1.95	0.09310	N	1	B	0.17465	0.022	B	0.23852	0.049	T	0.34104	-0.9842	10	0.56958	D	0.05	.	11.0247	0.47739	0.1444:0.7164:0.1392:0.0	.	663	Q9Y6N6	LAMC3_HUMAN	F	663	ENSP00000354360:L663F	ENSP00000347156:L663F	L	+	1	0	LAMC3	132922184	0.000000	0.05858	0.001000	0.08648	0.203000	0.24098	0.932000	0.28884	1.086000	0.41228	0.650000	0.86243	CTT		0.607	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		21	139	21	139
EIF2B4	8890	broad.mit.edu;ucsc.edu	37	2	27591981	27591981	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:27591981G>A	ENST00000347454.4	-	4	481	c.310C>T	c.(310-312)Cgt>Tgt	p.R104C	SNX17_ENST00000542478.1_5'Flank|SNX17_ENST00000537606.1_5'Flank|EIF2B4_ENST00000493344.2_Missense_Mutation_p.R125C|SNX17_ENST00000543024.1_5'Flank|EIF2B4_ENST00000451130.2_Missense_Mutation_p.R124C|SNX17_ENST00000233575.2_5'Flank|AC074117.10_ENST00000412749.1_RNA|EIF2B4_ENST00000445933.2_Missense_Mutation_p.R103C	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	104					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGCTCGACGCTCAGCCCGA	0.602																																																0													80.0	77.0	78.0					2																	27591981		2203	4300	6503	SO:0001583	missense	8890			AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"""eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"""			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.310C>T	2.37:g.27591981G>A	ENSP00000233552:p.Arg104Cys		Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Missense_Mutation	SNP	ENST00000347454.4	37	CCDS33164.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812342	0.70912	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	5.27	2.37	0.29283	.	0.000000	0.85682	D	0.000000	D	0.97012	0.9024	M	0.86502	2.82	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.998;0.999	D;P;P;P;P	0.69307	0.963;0.781;0.781;0.609;0.855	D	0.96740	0.9546	10	0.87932	D	0	-15.954	13.2573	0.60087	0.0:0.0:0.4368:0.5632	.	97;101;103;104;124	Q59FC8;F5H6W1;Q9UI10-3;Q9UI10;Q9UI10-2	.;.;.;EI2BD_HUMAN;.	C	104;101;103;124;125	ENSP00000233552:R104C;ENSP00000394397:R103C;ENSP00000394869:R124C;ENSP00000429323:R125C	ENSP00000233552:R104C	R	-	1	0	EIF2B4	27445485	1.000000	0.71417	0.962000	0.40283	0.704000	0.40688	1.271000	0.33098	0.316000	0.23135	0.561000	0.74099	CGT		0.602	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324448.1			67	119	67	119
GDPD2	54857	broad.mit.edu;ucsc.edu	37	X	69652260	69652260	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:69652260G>A	ENST00000374382.3	+	13	1662	c.1411G>A	c.(1411-1413)Gac>Aac	p.D471N	GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000453994.2_Missense_Mutation_p.D522N|GDPD2_ENST00000538649.1_Missense_Mutation_p.D392N|GDPD2_ENST00000536730.1_Missense_Mutation_p.D392N	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	471	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CACCACCAACGACTGCCAGCT	0.512																																																0													177.0	141.0	153.0					X																	69652260		2203	4300	6503	SO:0001583	missense	54857			AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.1411G>A	X.37:g.69652260G>A	ENSP00000363503:p.Asp471Asn		B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724991	0.48833	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.77	4.77	0.60923	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.193007	0.45867	D	0.000340	T	0.27866	0.0686	N	0.04994	-0.135	0.31017	N	0.718534	P;P	0.52692	0.955;0.866	B;B	0.41440	0.357;0.15	T	0.14671	-1.0464	9	.	.	.	-10.4626	15.4956	0.75646	0.0:0.0:1.0:0.0	.	522;471	B4DVC9;Q9HCC8	.;GDPD2_HUMAN	N	522;392;392;471	ENSP00000414019:D522N;ENSP00000445982:D392N;ENSP00000444601:D392N;ENSP00000363503:D471N	.	D	+	1	0	GDPD2	69568985	1.000000	0.71417	0.943000	0.38184	0.988000	0.76386	3.137000	0.50562	2.214000	0.71695	0.468000	0.43344	GAC		0.512	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		52	117	52	117
OR4A16	81327	broad.mit.edu;hgsc.bcm.edu	37	11	55110739	55110740	+	Frame_Shift_Ins	INS	-	-	A	rs77509752|rs368036675|rs78513473	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:55110739_55110740insA	ENST00000314721.2	+	1	113_114	c.63_64insA	c.(64-66)aaafs	p.K22fs		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V21V(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCCTGATGTGAAAAAAACATT	0.416																																																1	Substitution - coding silent(1)	lung(1)																																								SO:0001589	frameshift_variant	81327			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.70dupA	11.37:g.55110746_55110746dupA	ENSP00000325128:p.Lys22fs		Q6IFL3	Frame_Shift_Ins	INS	ENST00000314721.2	37	CCDS31499.1																																																																																				0.416	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		18	60	18	60
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76939638	76939639	+	Frame_Shift_Ins	INS	-	-	T	rs371831155		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:76939638_76939639insT	ENST00000373344.5	-	9	1323_1324	c.1109_1110insA	c.(1108-1110)tatfs	p.Y370fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.Y332fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	370					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AAAATTTAACATAACTGGAGTT	0.371			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)																																								SO:0001589	frameshift_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1110dupA	X.37:g.76939639_76939639dupT	ENSP00000362441:p.Tyr370fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	CCDS14434.1																																																																																				0.371	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		64	129	64	129
