#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_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_Start_position_hg18	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_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
MYOF	26509	broad.mit.edu	37	10	95241874	95241874	+	Silent	SNP	G	G	T			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr10:95241874G>T	ENST00000359263.4	-	1	77	c.78C>A	c.(76-78)gtC>gtA	p.V26V	MYOF_ENST00000371502.4_Silent_p.V26V|MYOF_ENST00000371489.1_Silent_p.V26V|MYOF_ENST00000371488.3_Silent_p.V26V|MYOF_ENST00000358334.5_Silent_p.V26V|MYOF_ENST00000371501.4_Silent_p.V26V	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	26	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.V26V(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCTTAAAAATGACAGAAACAA	0.388																																					p.V26V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C78A	10						.						92.0	87.0	88.0					10																	95241874		1827	4085	5912	95231864	SO:0001819	synonymous_variant	26509	exon1			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.78C>A	10.37:g.95241874G>T			95231864	NM_133337	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	CCDS41551.1																																																																																				0.388	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451	
SORBS1	10580	broad.mit.edu	37	10	97096451	97096451	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr10:97096451C>T	ENST00000361941.3	-	28	3492	c.3466G>A	c.(3466-3468)Gtg>Atg	p.V1156M	SORBS1_ENST00000371246.2_Missense_Mutation_p.V1015M|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.V1015M|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.V1110M|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.V1156M	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.V1156M(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CACCTGACCACGTCTGAAGGC	0.567																																					p.V1156M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3466A	10						.						97.0	99.0	98.0					10																	97096451		2203	4300	6503	97086441	SO:0001583	missense	10580	exon28			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.3466G>A	10.37:g.97096451C>T	ENSP00000355136:p.Val1156Met		97086441	NM_001034954		Missense_Mutation	SNP	ENST00000361941.3	37	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224189	0.39300	.	.	ENSG00000095637	ENST00000371247;ENST00000371227;ENST00000371246;ENST00000361941;ENST00000277982	T;T;T;T;T	0.08282	3.11;3.11;3.41;3.11;3.41	5.58	4.65	0.58169	.	0.000000	0.38217	N	0.001770	T	0.04137	0.0115	N	0.14661	0.345	0.80722	D	1	P;B;P	0.36974	0.576;0.44;0.576	B;B;B	0.30251	0.113;0.053;0.113	T	0.46498	-0.9187	10	0.37606	T	0.19	-9.1639	7.4193	0.27063	0.0:0.6365:0.266:0.0975	.	1110;1156;1015	Q9BX66-11;Q9BX66;Q9BX66-2	.;SRBS1_HUMAN;.	M	1156;1110;1015;1156;1015	ENSP00000360293:V1156M;ENSP00000360271:V1110M;ENSP00000360292:V1015M;ENSP00000355136:V1156M;ENSP00000277982:V1015M	ENSP00000277982:V1015M	V	-	1	0	SORBS1	97086441	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	1.528000	0.35985	2.641000	0.89580	0.561000	0.74099	GTG		0.567	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1		
DGKZ	8525	broad.mit.edu	37	11	46354981	46354982	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr11:46354981_46354982insC	ENST00000343674.6	+	1	527_528	c.156_157insC	c.(157-159)cccfs	p.P53fs		NM_201532.2	NP_963290.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	211					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)	p.V55fs*116(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CGGCCGCTGGGCCCCCGGTGGA	0.738																																					p.G52fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.156_157insC	11						.																																			46311558	SO:0001589	frameshift_variant	8525	exon1			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000343674.6:c.161dupC	11.37:g.46354986_46354986dupC	ENSP00000343065:p.Pro53fs		46311557	NM_201532	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Frame_Shift_Ins	INS	ENST00000343674.6	37	CCDS7918.1																																																																																				0.738	DGKZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389770.1	NM_001105540	
PPP1R32	220004	broad.mit.edu	37	11	61250265	61250266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	-	-	-	-	-	-	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr11:61250265_61250266insC	ENST00000338608.2	+	4	491_492	c.366_367insC	c.(367-369)cccfs	p.P123fs	PPP1R32_ENST00000432063.2_Frame_Shift_Ins_p.P123fs|RP11-286N22.8_ENST00000544880.1_Intron	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	123							phosphatase binding (GO:0019902)										CCAGTGCGGGTCCCCCCACCAA	0.678											OREG0021002	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G122fs												.	.	0			c.366_367insC	11						.																																			61006842	SO:0001589	frameshift_variant	220004	exon4			AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28869	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 66"""	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.372dupC	11.37:g.61250271_61250271dupC	ENSP00000344140:p.Pro123fs	1052	61006841	NM_001170753	Q4G0P4|Q96M77	Frame_Shift_Ins	INS	ENST00000338608.2	37	CCDS8008.1																																																																																				0.678	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1	NM_145017	
FRMD8	83786	broad.mit.edu	37	11	65161559	65161560	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	-	-	-	-	-	-	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr11:65161559_65161560insGG	ENST00000317568.5	+	5	566_567	c.403_404insGG	c.(403-405)cggfs	p.R135fs	FRMD8_ENST00000416776.2_Frame_Shift_Ins_p.R101fs|FRMD8_ENST00000355991.5_Frame_Shift_Ins_p.R79fs	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	135	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CCCAAAGCGGCGGGAGCTCCAG	0.658																																					p.R135fs												.	.	0			c.403_404insGG	11						.																																			64918136	SO:0001589	frameshift_variant	83786	exon5			AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.404_405dupGG	11.37:g.65161560_65161561dupGG	ENSP00000319726:p.Arg135fs		64918135	NM_031904	B4E2P1|Q86V56|Q8NCB5	Frame_Shift_Ins	INS	ENST00000317568.5	37	CCDS8102.1																																																																																				0.658	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	NM_031904	
EHD1	10938	broad.mit.edu	37	11	64627810	64627811	+	Splice_Site	INS	-	-	G	rs375175532		TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	-	-	-	-	-	-	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr11:64627810_64627811insG	ENST00000320631.3	-	3	757		c.e3-2		EHD1_ENST00000359393.2_Splice_Site	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1						blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						AGTCATAGCCTGGGGGGAAGAG	0.579																																					.												.	.	0			.	11						.																																			64384387	SO:0001630	splice_region_variant	10938	.			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.503-2->C	11.37:g.64627816_64627816dupG			64384386	.	O14611|Q2M3Q4|Q9UNR3	Splice_Site	INS	ENST00000320631.3	37	CCDS8084.1																																																																																				0.579	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795	Intron
CTR9	9646	broad.mit.edu	37	11	10789503	10789503	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr11:10789503C>A	ENST00000361367.2	+	14	2263	c.1837C>A	c.(1837-1839)Caa>Aaa	p.Q613K		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	613					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)		p.Q613K(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CGTGTGGCTCCAAACTTTACA	0.413																																					p.Q613K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1837A	11						.						177.0	164.0	169.0					11																	10789503		2201	4294	6495	10746079	SO:0001583	missense	9646	exon14			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1837C>A	11.37:g.10789503C>A	ENSP00000355013:p.Gln613Lys		10746079	NM_014633	D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774309	0.69992	.	.	ENSG00000198730	ENST00000361367	T	0.46451	0.87	5.56	5.56	0.83823	Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.43722	0.1260	L	0.58925	1.835	0.80722	D	1	B	0.14805	0.011	B	0.10450	0.005	T	0.24225	-1.0166	10	0.27785	T	0.31	-7.7242	19.5083	0.95130	0.0:1.0:0.0:0.0	.	613	Q6PD62	CTR9_HUMAN	K	613	ENSP00000355013:Q613K	ENSP00000355013:Q613K	Q	+	1	0	CTR9	10746079	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.760000	0.85248	2.620000	0.88729	0.467000	0.42956	CAA		0.413	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633	
LUZP2	338645	broad.mit.edu	37	11	24750738	24750738	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr11:24750738A>G	ENST00000336930.6	+	2	152	c.86A>G	c.(85-87)aAg>aGg	p.K29R	LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000533227.1_5'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	29						extracellular region (GO:0005576)		p.K29R(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GAGCTAGAAAAGCAGCTGAAA	0.433																																					p.K29R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A86G	11						.						67.0	69.0	68.0					11																	24750738		2203	4299	6502	24707314	SO:0001583	missense	338645	exon2			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.86A>G	11.37:g.24750738A>G	ENSP00000336817:p.Lys29Arg		24707314	NM_001009909	A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	A	9.180	1.023307	0.19433	.	.	ENSG00000187398	ENST00000336930;ENST00000529015	T;T	0.22336	1.96;1.96	5.99	1.27	0.21489	.	0.223998	0.45606	N	0.000342	T	0.07369	0.0186	N	0.03177	-0.4	0.80722	D	1	B	0.16166	0.016	B	0.19148	0.024	T	0.26395	-1.0104	10	0.11182	T	0.66	-13.7826	8.6013	0.33747	0.7025:0.0:0.2975:0.0	.	29	Q86TE4	LUZP2_HUMAN	R	29	ENSP00000336817:K29R;ENSP00000437032:K29R	ENSP00000336817:K29R	K	+	2	0	LUZP2	24707314	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.203000	0.42752	0.525000	0.28522	0.533000	0.62120	AAG		0.433	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909	
TTC17	55761	broad.mit.edu	37	11	43418346	43418346	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr11:43418346C>T	ENST00000039989.4	+	6	765	c.751C>T	c.(751-753)Cga>Tga	p.R251*	RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Nonsense_Mutation_p.R251*|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	251					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.R251*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ATGTGCCATGCGAGCACTTCA	0.398																																					p.R251X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C751T	11						.						135.0	122.0	126.0					11																	43418346		2202	4300	6502	43374922	SO:0001587	stop_gained	55761	exon6			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.751C>T	11.37:g.43418346C>T	ENSP00000039989:p.Arg251*		43374922	NM_018259	G3XAB3|Q8NEC0	Nonsense_Mutation	SNP	ENST00000039989.4	37	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	37	6.331046	0.97480	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	.	.	.	5.6	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9422	15.9264	0.79621	0.1364:0.8636:0.0:0.0	.	.	.	.	X	251	.	ENSP00000039989:R251X	R	+	1	2	TTC17	43374922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.893000	0.48633	1.493000	0.48517	0.655000	0.94253	CGA		0.398	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259	
TBC1D10C	374403	broad.mit.edu	37	11	67176565	67176565	+	Frame_Shift_Del	DEL	C	C	-	rs147560025		TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr11:67176565delC	ENST00000542590.1	+	8	968	c.954delC	c.(952-954)atcfs	p.I318fs	TBC1D10C_ENST00000312390.5_Frame_Shift_Del_p.I318fs|TBC1D10C_ENST00000526387.1_Frame_Shift_Del_p.P255fs			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	318					retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)	p.A321fs*100(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TTCGAGCCATCCCCCCCGCGC	0.687																																					p.I318fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.954delC	11						.																																			66933141	SO:0001589	frameshift_variant	374403	exon9			BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.954delC	11.37:g.67176565delC	ENSP00000443654:p.Ile318fs		66933141	NM_198517	G3V1D6	Frame_Shift_Del	DEL	ENST00000542590.1	37	CCDS8162.1																																																																																				0.687	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517	
TENM4	26011	broad.mit.edu	37	11	78381223	78381223	+	Missense_Mutation	SNP	C	C	A	rs555192700		TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr11:78381223C>A	ENST00000278550.7	-	32	6629	c.6167G>T	c.(6166-6168)cGc>cTc	p.R2056L		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2056					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.R2056L(1)									CTGACGGTAGCGGATGGTGCA	0.527																																					p.R2056L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6167T	11						.						68.0	80.0	76.0					11																	78381223		2104	4206	6310	78058871	SO:0001583	missense	26011	exon32			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.6167G>T	11.37:g.78381223C>A	ENSP00000278550:p.Arg2056Leu		78058871	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505751	0.85282	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90324	-2.65;0.82	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.95146	0.8427	M	0.77103	2.36	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	D	0.94751	0.7927	9	.	.	.	.	18.3721	0.90411	0.0:1.0:0.0:0.0	.	2056	Q6N022	TEN4_HUMAN	L	2056;520	ENSP00000278550:R2056L;ENSP00000431711:R520L	.	R	-	2	0	ODZ4	78058871	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.609000	0.82925	2.636000	0.89361	0.655000	0.94253	CGC		0.527	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		
KRT78	196374	broad.mit.edu	37	12	53240569	53240569	+	Silent	SNP	G	G	A	rs148650209		TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr12:53240569G>A	ENST00000304620.4	-	3	702	c.639C>T	c.(637-639)aaC>aaT	p.N213N	KRT78_ENST00000359499.4_Silent_p.N103N	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	213	Coil 1B.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.N213N(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CCACAAAGTCGTTCTCAAGTG	0.567																																					p.N213N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C639T	12						.	G		0,4406		0,0,2203	95.0	67.0	76.0		639	-2.4	1.0	12	dbSNP_134	76	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KRT78	NM_173352.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		213/521	53240569	2,13004	2203	4300	6503	51526836	SO:0001819	synonymous_variant	196374	exon3			AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.639C>T	12.37:g.53240569G>A			51526836	NM_173352	A8K4D6|Q5HYM7|Q7RTT2	Silent	SNP	ENST00000304620.4	37	CCDS8840.1																																																																																				0.567	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352	
MYO1A	4640	broad.mit.edu	37	12	57430863	57430863	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr12:57430863C>T	ENST00000442789.2	-	21	2355	c.2068G>A	c.(2068-2070)Gaa>Aaa	p.E690K	MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000544473.1_Missense_Mutation_p.E528K|MYO1A_ENST00000300119.3_Missense_Mutation_p.E690K	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	690	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E690K(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTCTGTTCTTCGAGGTAGAAA	0.572																																					p.E690K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2068A	12						.						69.0	75.0	73.0					12																	57430863		2203	4300	6503	55717130	SO:0001583	missense	4640	exon20			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2068G>A	12.37:g.57430863C>T	ENSP00000393392:p.Glu690Lys		55717130	NM_005379	Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421559	0.96111	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	T;T;T	0.74737	-0.87;-0.87;-0.87	5.46	5.46	0.80206	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	D	0.91489	0.7313	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.94393	0.7616	10	0.87932	D	0	.	16.7985	0.85608	0.0:1.0:0.0:0.0	.	690	Q9UBC5	MYO1A_HUMAN	K	690;690;528	ENSP00000300119:E690K;ENSP00000393392:E690K;ENSP00000440514:E528K	ENSP00000300119:E690K	E	-	1	0	MYO1A	55717130	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.616000	0.83018	2.570000	0.86706	0.563000	0.77884	GAA		0.572	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379	
AICDA	57379	broad.mit.edu	37	12	8758007	8758007	+	Silent	SNP	G	G	A			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr12:8758007G>A	ENST00000229335.6	-	3	334	c.231C>T	c.(229-231)cgC>cgT	p.R77R	AICDA_ENST00000537228.1_Silent_p.R77R	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	77					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R77R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					ACCAGGTGACGCGGTAGCAGC	0.612																																					p.R77R	GBM(62;896 1067 5527 26594 30137)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C231T	12						.						48.0	54.0	52.0					12																	8758007		2122	4246	6368	8649274	SO:0001819	synonymous_variant	57379	exon3			AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.231C>T	12.37:g.8758007G>A			8649274	NM_020661	Q6QJ81|Q8NFC1	Silent	SNP	ENST00000229335.6	37	CCDS41747.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.283516	0.23392	.	.	ENSG00000111732	ENST00000543081;ENST00000545512	.	.	.	5.43	-10.9	0.00192	.	.	.	.	.	T	0.30479	0.0766	.	.	.	0.42812	D	0.993967	.	.	.	.	.	.	T	0.40059	-0.9583	4	.	.	.	-22.3389	0.7727	0.01027	0.3615:0.239:0.1962:0.2033	.	.	.	.	V	76	.	.	A	-	2	0	AICDA	8649274	0.000000	0.05858	0.180000	0.23079	0.982000	0.71751	-3.651000	0.00403	-2.742000	0.00379	0.462000	0.41574	GCG		0.612	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661	
AVPR1A	552	broad.mit.edu	37	12	63543876	63543876	+	Silent	SNP	G	G	A			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr12:63543876G>A	ENST00000299178.2	-	1	846	c.741C>T	c.(739-741)gtC>gtT	p.V247V		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	247					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.V247V(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	TCTTCCCGCGGACGTTGCACC	0.617																																					p.V247V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C741T	12						.						86.0	88.0	88.0					12																	63543876		2203	4300	6503	61830143	SO:0001819	synonymous_variant	552	exon1			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.741C>T	12.37:g.63543876G>A			61830143	NM_000706		Silent	SNP	ENST00000299178.2	37	CCDS8965.1																																																																																				0.617	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1		
MTUS2	23281	broad.mit.edu	37	13	29599906	29599906	+	Silent	SNP	C	C	T	rs372153145		TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr13:29599906C>T	ENST00000431530.3	+	1	1159	c.1101C>T	c.(1099-1101)acC>acT	p.T367T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	357						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.T367T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CGGAAGCCACCGATGCACTTG	0.572																																					p.T367T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1101T	13						.	C		1,4125		0,1,2062	50.0	53.0	52.0		1101	-8.8	0.0	13		52	0,8418		0,0,4209	no	coding-synonymous	MTUS2	NM_001033602.2		0,1,6271	TT,TC,CC		0.0,0.0242,0.0080		367/1380	29599906	1,12543	2063	4209	6272	28497906	SO:0001819	synonymous_variant	23281	exon1			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1101C>T	13.37:g.29599906C>T			28497906	NM_001033602	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	CCDS45022.1																																																																																				0.572	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270	
KATNAL1	84056	broad.mit.edu	37	13	30782817	30782817	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr13:30782817G>A	ENST00000380615.3	-	11	1500	c.1333C>T	c.(1333-1335)Cgt>Tgt	p.R445C	AL356750.1_ENST00000579551.1_RNA|KATNAL1_ENST00000380617.3_Missense_Mutation_p.R445C	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1									p.R445C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GAAAGTGCACGGATTTCTTCT	0.403																																					p.R445C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1333T	13						.						91.0	86.0	88.0					13																	30782817		2203	4300	6503	29680817	SO:0001583	missense	84056	exon11			AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.1333C>T	13.37:g.30782817G>A	ENSP00000369989:p.Arg445Cys		29680817	NM_032116		Missense_Mutation	SNP	ENST00000380615.3	37	CCDS31956.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816355	0.90790	.	.	ENSG00000102781	ENST00000380615;ENST00000380617	D;D	0.98075	-4.7;-4.7	6.16	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.98880	0.9621	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.99425	1.0934	10	0.72032	D	0.01	-21.5218	17.1823	0.86858	0.0:0.0:0.8731:0.1269	.	445	Q9BW62	KATL1_HUMAN	C	445	ENSP00000369989:R445C;ENSP00000369991:R445C	ENSP00000369989:R445C	R	-	1	0	KATNAL1	29680817	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.629000	0.67798	1.597000	0.50072	0.650000	0.86243	CGT		0.403	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044346.2	NM_032116	
NBEA	26960	broad.mit.edu	37	13	35692389	35692389	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr13:35692389C>A	ENST00000400445.3	+	15	2641	c.2107C>A	c.(2107-2109)Ctt>Att	p.L703I	NBEA_ENST00000310336.4_Missense_Mutation_p.L703I|NBEA_ENST00000540320.1_Missense_Mutation_p.L703I|NBEA_ENST00000379939.2_Missense_Mutation_p.L703I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	703					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.L703I(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGAAGATGAACTTCAGAGTAT	0.244																																					p.L703I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2107A	13						.						50.0	44.0	46.0					13																	35692389		1785	4048	5833	34590389	SO:0001583	missense	26960	exon15			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.2107C>A	13.37:g.35692389C>A	ENSP00000383295:p.Leu703Ile		34590389	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.474783	0.63737	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	4.29	4.29	0.51040	.	0.000000	0.64402	D	0.000004	T	0.68860	0.3047	M	0.80183	2.485	0.80722	D	1	D	0.63880	0.993	D	0.76071	0.987	T	0.69327	-0.5174	10	0.27082	T	0.32	.	16.7133	0.85391	0.0:1.0:0.0:0.0	.	703	Q5T321	.	I	703	ENSP00000440951:L703I;ENSP00000383295:L703I;ENSP00000369271:L703I;ENSP00000308534:L703I	ENSP00000308534:L703I	L	+	1	0	NBEA	34590389	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.502000	0.66956	1.929000	0.55896	0.460000	0.39030	CTT		0.244	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
TDRD3	81550	broad.mit.edu	37	13	61109283	61109283	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr13:61109283G>A	ENST00000196169.3	+	12	2543	c.1755G>A	c.(1753-1755)atG>atA	p.M585I	TDRD3_ENST00000377894.2_Missense_Mutation_p.M585I|TDRD3_ENST00000535286.1_Missense_Mutation_p.M678I|TDRD3_ENST00000377881.2_Missense_Mutation_p.M585I	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	585	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.M585I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CTTCGGGTATGACAGCAGTTG	0.408																																					p.M585I	Colon(36;164 906 35820 50723)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1755A	13						.						111.0	103.0	105.0					13																	61109283		2203	4300	6503	60007284	SO:0001583	missense	81550	exon12			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1755G>A	13.37:g.61109283G>A	ENSP00000196169:p.Met585Ile		60007284	NM_001146071	B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	37	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846701	0.32606	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	T;T;T;T	0.09073	3.02;3.02;3.02;3.02	6.07	5.22	0.72569	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.161246	0.64402	D	0.000006	T	0.05181	0.0138	N	0.24115	0.695	0.36323	D	0.858377	P;B;P	0.38195	0.622;0.372;0.485	B;B;B	0.31390	0.108;0.083;0.129	T	0.45804	-0.9236	10	0.37606	T	0.19	-6.3048	8.0313	0.30467	0.1142:0.0:0.7433:0.1425	.	678;584;585	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	I	585;585;585;678	ENSP00000196169:M585I;ENSP00000367113:M585I;ENSP00000367126:M585I;ENSP00000440190:M678I	ENSP00000196169:M585I	M	+	3	0	TDRD3	60007284	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	3.167000	0.50793	1.570000	0.49709	0.585000	0.79938	ATG		0.408	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794	
RALGAPA1	253959	broad.mit.edu	37	14	36211579	36211579	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr14:36211579C>G	ENST00000389698.3	-	11	1834	c.1444G>C	c.(1444-1446)Gaa>Caa	p.E482Q	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.E482Q|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.E482Q|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.E482Q	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	482					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.E482Q(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTCACCTCTTCTCTTTTTTCT	0.313																																					p.E482Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1444C	14						.						41.0	41.0	41.0					14																	36211579		2202	4299	6501	35281330	SO:0001583	missense	253959	exon11			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.1444G>C	14.37:g.36211579C>G	ENSP00000374348:p.Glu482Gln		35281330	NM_194301	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374769	0.42105	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000004	T	0.75302	0.3831	L	0.39898	1.24	0.45261	D	0.998262	P;P;P;P;P	0.51791	0.948;0.913;0.502;0.867;0.837	P;B;B;B;B	0.47430	0.547;0.345;0.3;0.359;0.129	T	0.73487	-0.3967	10	0.25751	T	0.34	-16.0908	17.8924	0.88876	0.0:1.0:0.0:0.0	.	482;482;482;482;482	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	Q	482	ENSP00000374348:E482Q;ENSP00000302647:E482Q;ENSP00000258840:E482Q;ENSP00000371803:E482Q;ENSP00000451877:E482Q	ENSP00000258840:E482Q	E	-	1	0	RALGAPA1	35281330	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.961000	0.70356	2.227000	0.72691	0.484000	0.47621	GAA		0.313	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022	
ZNF410	57862	broad.mit.edu	37	14	74376104	74376104	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr14:74376104G>A	ENST00000555044.1	+	8	1168	c.974G>A	c.(973-975)aGc>aAc	p.S325N	Y_RNA_ENST00000362602.1_RNA|ZNF410_ENST00000442160.3_Missense_Mutation_p.S342N|ZNF410_ENST00000324593.6_Missense_Mutation_p.S325N|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000540593.1_Missense_Mutation_p.S252N|ZNF410_ENST00000412490.3_3'UTR|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000334521.4_Missense_Mutation_p.S272N	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S325N(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		GAGTATTCTAGCCTCCGAAAA	0.428																																					p.S325N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G974A	14						.						172.0	173.0	173.0					14																	74376104		2203	4300	6503	73445857	SO:0001583	missense	57862	exon8			U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.974G>A	14.37:g.74376104G>A	ENSP00000451763:p.Ser325Asn		73445857	NM_021188	B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	ENST00000555044.1	37	CCDS9821.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713017	0.89112	.	.	ENSG00000119725	ENST00000540593;ENST00000324593;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521;ENST00000554316	T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;3.18	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000090	T	0.36771	0.0979	N	0.03294	-0.36	0.80722	D	1	D;D;D;D;D;D	0.69078	0.997;0.997;0.995;0.989;0.997;0.991	D;D;D;D;D;D	0.80764	0.992;0.994;0.983;0.969;0.992;0.982	T	0.47837	-0.9086	10	0.33141	T	0.24	.	16.8668	0.86030	0.0:0.0:1.0:0.0	.	325;252;342;325;314;325	B2RCP6;B4DR78;B4DDV5;Q86VK4-3;B4DPE9;Q86VK4	.;.;.;.;.;ZN410_HUMAN	N	252;325;314;342;325;272;56	ENSP00000442228:S252N;ENSP00000323293:S325N;ENSP00000407130:S342N;ENSP00000451763:S325N;ENSP00000334170:S272N;ENSP00000451748:S56N	ENSP00000323293:S325N	S	+	2	0	ZNF410	73445857	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	8.465000	0.90383	2.648000	0.89879	0.655000	0.94253	AGC		0.428	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412597.1	NM_021188	
SPRED1	161742	broad.mit.edu	37	15	38614584	38614584	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr15:38614584G>A	ENST00000299084.4	+	3	1210	c.350G>A	c.(349-351)cGa>cAa	p.R117Q	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	117	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.R117Q(1)		kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGAGGTATCCGAAGAGCTATA	0.358									Legius syndrome																												p.R117Q	Melanoma(196;2146 2959 7698 16532)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G350A	15						.						137.0	142.0	140.0					15																	38614584		2200	4297	6497	36401876	SO:0001583	missense	161742	exon3	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.350G>A	15.37:g.38614584G>A	ENSP00000299084:p.Arg117Gln		36401876	NM_152594	B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944484	0.92593	.	.	ENSG00000166068	ENST00000299084	D	0.98249	-4.82	5.71	5.71	0.89125	EVH1 (2);Pleckstrin homology-type (1);	0.110224	0.64402	D	0.000007	D	0.98429	0.9477	L	0.48877	1.53	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98408	1.0571	10	0.34782	T	0.22	-9.5015	19.8564	0.96761	0.0:0.0:1.0:0.0	.	117	Q7Z699	SPRE1_HUMAN	Q	117	ENSP00000299084:R117Q	ENSP00000299084:R117Q	R	+	2	0	SPRED1	36401876	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.006000	0.88564	2.704000	0.92352	0.585000	0.79938	CGA		0.358	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1		
PRTG	283659	broad.mit.edu	37	15	55970064	55970064	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr15:55970064C>A	ENST00000389286.4	-	8	1359	c.1312G>T	c.(1312-1314)Gcc>Tcc	p.A438S	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin									p.A438S(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CTCTCCCAGGCTAAAAGAATG	0.413																																					p.A438S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1312T	15						.						123.0	116.0	118.0					15																	55970064		1870	4110	5980	53757356	SO:0001583	missense	283659	exon8			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1312G>T	15.37:g.55970064C>A	ENSP00000373937:p.Ala438Ser		53757356	NM_173814		Missense_Mutation	SNP	ENST00000389286.4	37	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637229	0.67130	.	.	ENSG00000166450	ENST00000389286	T	0.50813	0.73	4.87	4.87	0.63330	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.482216	0.24107	N	0.041483	T	0.33818	0.0876	N	0.02802	-0.49	0.80722	D	1	D	0.54397	0.966	P	0.59761	0.863	T	0.25257	-1.0137	10	0.02654	T	1	-18.9419	12.5009	0.55955	0.1667:0.8333:0.0:0.0	.	438	Q2VWP7	PRTG_HUMAN	S	438	ENSP00000373937:A438S	ENSP00000373937:A438S	A	-	1	0	PRTG	53757356	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	4.744000	0.62118	2.405000	0.81733	0.650000	0.86243	GCC		0.413	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814	
IDH3A	3419	broad.mit.edu	37	15	78452504	78452504	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr15:78452504C>T	ENST00000299518.2	+	4	328	c.245C>T	c.(244-246)tCa>tTa	p.S82L	IDH3A_ENST00000558554.1_Missense_Mutation_p.S82L|IDH3A_ENST00000441490.2_Intron|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558535.1_3'UTR	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	82					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.S82L(1)		endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						ATGATCCCTTCAGAGGCTAAA	0.498																																					p.S82L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C245T	15						.						80.0	74.0	76.0					15																	78452504		2196	4293	6489	76239559	SO:0001583	missense	3419	exon4				CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"""H-IDH alpha"", ""isocitric dehydrogenase"", ""isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial"", ""NAD+-specific ICDH"", ""NAD(H)-specific isocitrate dehydrogenase alpha subunit"", ""isocitrate dehydrogenase (NAD+) alpha chain"""	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.245C>T	15.37:g.78452504C>T	ENSP00000299518:p.Ser82Leu		76239559	NM_005530	D3DW83|Q9H3X0	Missense_Mutation	SNP	ENST00000299518.2	37	CCDS10297.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593959	0.66219	.	.	ENSG00000166411	ENST00000299518	T	0.69175	-0.38	5.62	5.62	0.85841	Isopropylmalate dehydrogenase-like domain (2);	0.048279	0.85682	D	0.000000	T	0.63224	0.2493	L	0.46157	1.445	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.57768	-0.7754	10	0.45353	T	0.12	-3.9898	18.6639	0.91481	0.0:1.0:0.0:0.0	.	82;82	B4DSY4;P50213	.;IDH3A_HUMAN	L	82	ENSP00000299518:S82L	ENSP00000299518:S82L	S	+	2	0	IDH3A	76239559	0.985000	0.35326	0.941000	0.38009	0.986000	0.74619	3.913000	0.56394	2.644000	0.89710	0.561000	0.74099	TCA		0.498	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	NM_005530	
HDGFRP3	50810	broad.mit.edu	37	15	83820094	83820094	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr15:83820094C>T	ENST00000299633.4	-	5	1082	c.479G>A	c.(478-480)cGg>cAg	p.R160Q		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		160					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R160Q(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TGGAGATTTCCGGGACTGTTT	0.393																																					p.R160Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G479A	15						.						122.0	110.0	114.0					15																	83820094		2203	4300	6503	81611098	SO:0001583	missense	50810	exon5																														ENST00000299633.4:c.479G>A	15.37:g.83820094C>T	ENSP00000299633:p.Arg160Gln		81611098	NM_016073		Missense_Mutation	SNP	ENST00000299633.4	37	CCDS32314.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142713	0.77888	.	.	ENSG00000166503	ENST00000299633	T	0.72835	-0.69	5.87	5.87	0.94306	.	0.114922	0.56097	D	0.000027	T	0.81927	0.4926	M	0.63843	1.955	0.47737	D	0.999503	D	0.64830	0.994	D	0.64042	0.921	T	0.77270	-0.2650	10	0.32370	T	0.25	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	160	Q9Y3E1	HDGR3_HUMAN	Q	160	ENSP00000299633:R160Q	ENSP00000299633:R160Q	R	-	2	0	AC024270.1	81611098	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.320000	0.72876	2.941000	0.99782	0.655000	0.94253	CGG		0.393	HDGFRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419898.1		
USP31	57478	broad.mit.edu	37	16	23083612	23083613	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	-	-	-	-	-	-	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr16:23083612_23083613insG	ENST00000567975.1	-	1	256_257	c.120_121insC	c.(118-123)cccagcfs	p.S41fs	USP31_ENST00000219689.7_Intron			Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CGAGCTGAGCTGGGGGGCGTTG	0.559																																					.												.	.	0			.	16						.																																			22991114	SO:0001589	frameshift_variant	57478	.			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000567975.1:c.121dupC	16.37:g.23083618_23083618dupG	ENSP00000461621:p.Ser41fs		22991113	.	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Frame_Shift_Ins	INS	ENST00000567975.1	37																																																																																					0.559	USP31-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434003.2	NM_020718	
BRICD5	283870	broad.mit.edu	37	16	2259390	2259390	+	Silent	SNP	C	C	T	rs78285503	byFrequency	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr16:2259390C>T	ENST00000562360.1	-	5	755	c.756G>A	c.(754-756)tcG>tcA	p.S252S	MLST8_ENST00000301725.7_3'UTR|RP11-304L19.8_ENST00000561544.1_lincRNA|BRICD5_ENST00000328540.3_Silent_p.S220S|MLST8_ENST00000382450.4_3'UTR|MLST8_ENST00000301724.10_3'UTR|MLST8_ENST00000564088.1_3'UTR|MLST8_ENST00000397124.1_3'UTR|MLST8_ENST00000569417.1_3'UTR			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	252						integral component of membrane (GO:0016021)		p.S220S(1)									AAAAGCAGACCGACACGCAGA	0.632													C|||	57	0.0113818	0.0	0.0	5008	,	,		17450	0.0546		0.0	False		,,,				2504	0.002				p.S220S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G660A	16						.	C	,,,,	5,4391	9.9+/-24.2	0,5,2193	68.0	65.0	66.0		,,,,660	-11.3	0.0	16	dbSNP_132	66	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,utr-3,utr-3,utr-3,coding-synonymous	MLST8,C16orf79	NM_001199173.1,NM_001199174.1,NM_001199175.1,NM_022372.4,NM_182563.3	,,,,	0,6,6492	TT,TC,CC		0.0116,0.1137,0.0462	,,,,	,,,,220/229	2259390	6,12990	2198	4300	6498	2199391	SO:0001819	synonymous_variant	283870	exon6			BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"""BRICHOS domain containing"""	28309	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 79"""	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.756G>A	16.37:g.2259390C>T			2199391	NM_182563	C9J7K2|Q8IXU9	Silent	SNP	ENST00000562360.1	37	CCDS10463.1																																																																																				0.632	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563	
C16orf90	646174	broad.mit.edu	37	16	3544835	3544835	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr16:3544835delG	ENST00000437192.3	-	2	91	c.89delC	c.(88-90)gcafs	p.A30fs	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	20								p.A39fs*231(1)		large_intestine(1)	1						GTTGGGGGGTGCGTCAGGGTG	0.711																																					p.A30fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.89delC	16						.						13.0	15.0	14.0					16																	3544835		1884	4077	5961	3484836	SO:0001589	frameshift_variant	646174	exon2				CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627	ENST00000437192.3:c.89delC	16.37:g.3544835delG	ENSP00000401335:p.Ala30fs		3484836	NM_001080524		Frame_Shift_Del	DEL	ENST00000437192.3	37	CCDS45397.1																																																																																				0.711	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	NM_001080524	
CAMTA2	23125	broad.mit.edu	37	17	4875737	4875738	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	-	-	-	-	-	-	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr17:4875737_4875738insG	ENST00000348066.3	-	16	2720_2721	c.2597_2598insC	c.(2596-2598)cctfs	p.P866fs	CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.P889fs|CAMTA2_ENST00000361571.5_Frame_Shift_Ins_p.P865fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.P866fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.P871fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.P868fs|RP5-1050D4.2_ENST00000430920.1_RNA	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	866					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GCAGAGGTGCAGGGGGGGGACT	0.614																																					p.P889fs												.	.	0			c.2667_2668insC	17						.																																			4816462	SO:0001589	frameshift_variant	23125	exon16			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2598dupC	17.37:g.4875745_4875745dupG	ENSP00000321813:p.Pro866fs		4816461	NM_001171167	B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Frame_Shift_Ins	INS	ENST00000348066.3	37	CCDS11063.1																																																																																				0.614	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099	
RHBDF2	79651	broad.mit.edu	37	17	74467759	74467760	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	-	-	-	-	-	-	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr17:74467759_74467760insG	ENST00000313080.4	-	19	2799_2800	c.2526_2527insC	c.(2524-2529)accagcfs	p.S843fs	RHBDF2_ENST00000389760.4_Frame_Shift_Ins_p.S814fs|RHBDF2_ENST00000591885.1_Frame_Shift_Ins_p.S814fs	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	843					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CAGAAGCGGCTGGTGAAGGGGA	0.644																																					p.S814fs												.	.	0			c.2440_2441insC	17						.																																			71979355	SO:0001589	frameshift_variant	79651	exon18			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.2527dupC	17.37:g.74467761_74467761dupG	ENSP00000322775:p.Ser843fs		71979354	NM_001005498	A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Frame_Shift_Ins	INS	ENST00000313080.4	37	CCDS32743.1																																																																																				0.644	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599	
METRNL	284207	broad.mit.edu	37	17	81042873	81042874	+	Frame_Shift_Ins	INS	-	-	G	rs150934544	byFrequency	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr17:81042873_81042874insG	ENST00000320095.7	+	2	355_356	c.230_231insG	c.(229-234)gcgggtfs	p.AG77fs	METRNL_ENST00000570778.1_5'UTR|METRNL_ENST00000571814.1_5'UTR	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	77					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)	p.A77A(1)|p.A79fs*14(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			CGCTGTGCGGCGGGTGCCGTGG	0.649																																					p.A77fs												.	.	2	Substitution - coding silent(1)|Insertion - Frameshift(1)	large_intestine(1)|lung(1)	c.230_231insG	17						.																																			78636163	SO:0001589	frameshift_variant	284207	exon2			AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.233dupG	17.37:g.81042876_81042876dupG	ENSP00000315731:p.Ala77fs		78636162	NM_001004431	B3KSJ5|Q86VM0	Frame_Shift_Ins	INS	ENST00000320095.7	37	CCDS32779.1																																																																																				0.649	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438902.1	NM_001004431	
PIPOX	51268	broad.mit.edu	37	17	27371895	27371895	+	Nonsense_Mutation	SNP	C	C	T	rs148923684		TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr17:27371895C>T	ENST00000323372.4	+	2	459	c.133C>T	c.(133-135)Cga>Tga	p.R45*	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	45					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)	p.R45*(1)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	ACCACACTCCCGAGGAAGCTC	0.502																																					p.R45X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C133T	17						.	C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	115.0	100.0	105.0		133	1.4	1.0	17	dbSNP_134	105	0,8600		0,0,4300	no	stop-gained	PIPOX	NM_016518.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		45/391	27371895	1,13005	2203	4300	6503	24396021	SO:0001587	stop_gained	51268	exon2			AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"""L-pipecolic acid oxidase"""					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.133C>T	17.37:g.27371895C>T	ENSP00000317721:p.Arg45*		24396021	NM_016518	B3KNH0|Q96H28|Q9C070	Nonsense_Mutation	SNP	ENST00000323372.4	37	CCDS11248.1	.	.	.	.	.	.	.	.	.	.	C	37	6.584980	0.97684	2.27E-4	0.0	ENSG00000179761	ENST00000323372	.	.	.	5.8	1.38	0.22167	.	0.059720	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8034	5.2948	0.15747	0.4048:0.4455:0.0:0.1496	.	.	.	.	X	45	.	ENSP00000317721:R45X	R	+	1	2	PIPOX	24396021	0.966000	0.33281	0.999000	0.59377	0.997000	0.91878	0.206000	0.17375	0.054000	0.16065	0.650000	0.86243	CGA		0.502	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1	NM_016518	
SRCIN1	80725	broad.mit.edu	37	17	36719725	36719725	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr17:36719725G>A	ENST00000264659.7	-	5	798	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.R226W	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	64					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)	p.R192W(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TGCACGCGCCGAGTCTCCTCC	0.662																																					p.R192W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C574T	17						.						34.0	37.0	36.0					17																	36719725		2143	4185	6328	33973251	SO:0001583	missense	80725	exon5				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.574C>T	17.37:g.36719725G>A	ENSP00000264659:p.Arg192Trp		33973251	NM_025248	Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805121	0.90623	.	.	ENSG00000017373	ENST00000264659;ENST00000398579	T	0.54866	0.55	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.66829	0.2829	L	0.58101	1.795	0.53005	D	0.999961	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;0.999	T	0.69117	-0.5230	10	0.87932	D	0	-23.7793	11.2418	0.48974	0.0:0.0:0.7067:0.2933	.	46;64;64;192	B4DHC2;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	W	192;46	ENSP00000264659:R192W	ENSP00000264659:R192W	R	-	1	2	SRCIN1	33973251	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	3.586000	0.53950	2.477000	0.83638	0.650000	0.86243	CGG		0.662	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248	
TMEM99	147184	broad.mit.edu	37	17	38990991	38990991	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr17:38990991T>A	ENST00000301665.3	+	3	527	c.223T>A	c.(223-225)Tcc>Acc	p.S75T		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	75						integral component of membrane (GO:0016021)		p.S75T(1)		cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				TGAGTTATTTTCCTTTCTTCG	0.483																																					p.S75T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T223A	17						.						221.0	219.0	220.0					17																	38990991		1894	4122	6016	36244517	SO:0001583	missense	147184	exon3			AK097454	CCDS42319.1	17q21.2	2008-11-06			ENSG00000167920	ENSG00000167920			28305	protein-coding gene	gene with protein product						12477932	Standard	NM_001195386		Approved	MGC21518	uc021txc.1	Q8N816	OTTHUMG00000133579	ENST00000301665.3:c.223T>A	17.37:g.38990991T>A	ENSP00000301665:p.Ser75Thr		36244517	NM_001195386	B4DQ34|Q96BP9	Missense_Mutation	SNP	ENST00000301665.3	37	CCDS42319.1	.	.	.	.	.	.	.	.	.	.	T	2.379	-0.342568	0.05243	.	.	ENSG00000167920	ENST00000436612;ENST00000301665	T;T	0.28255	1.62;1.62	0.235	0.235	0.15431	.	.	.	.	.	T	0.14098	0.0341	N	0.08118	0	0.09310	N	1	B	0.25904	0.137	B	0.20767	0.031	T	0.22138	-1.0225	8	0.87932	D	0	.	.	.	.	.	75	Q8N816	TMM99_HUMAN	T	75	ENSP00000390036:S75T;ENSP00000301665:S75T	ENSP00000301665:S75T	S	+	1	0	TMEM99	36244517	0.026000	0.19158	0.024000	0.17045	0.024000	0.10985	0.286000	0.18902	0.263000	0.21812	0.260000	0.18958	TCC		0.483	TMEM99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257681.1	NM_145274	
NT5C3B	115024	broad.mit.edu	37	17	39991352	39991352	+	Silent	SNP	G	G	A			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr17:39991352G>A	ENST00000435506.2	-	4	267	c.198C>T	c.(196-198)agC>agT	p.S66S	KLHL10_ENST00000293303.4_5'Flank|NT5C3B_ENST00000521789.1_Silent_p.S33S|NT5C3B_ENST00000269534.8_Silent_p.S58S|RN7SL871P_ENST00000583512.1_RNA			Q969T7	5NT3B_HUMAN	5'-nucleotidase, cytosolic IIIB	66					nucleotide metabolic process (GO:0009117)	cytoplasm (GO:0005737)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.S58S(1)									TGATGATCTTGCTATTATCCA	0.433																																					p.S66S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C198T	17						.						145.0	140.0	142.0					17																	39991352		2203	4300	6503	37244878	SO:0001819	synonymous_variant	115024	exon4				CCDS11410.1, CCDS11410.2	17q21.2	2013-01-31	2013-01-31	2013-01-31	ENSG00000141698	ENSG00000141698	3.1.3.5		28300	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic III-like"""	NT5C3L		23223233	Standard	NM_052935		Approved	MGC20781	uc021txo.1	Q969T7	OTTHUMG00000133499	ENST00000435506.2:c.198C>T	17.37:g.39991352G>A			37244878	NM_052935	A8MWB9|C9JKC4|Q7L3B7	Silent	SNP	ENST00000435506.2	37	CCDS11410.2																																																																																				0.433	NT5C3B-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257430.2	NM_052935	
BCL6B	255877	broad.mit.edu	37	17	6928437	6928437	+	Silent	SNP	T	T	C			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr17:6928437T>C	ENST00000293805.5	+	5	899	c.807T>C	c.(805-807)gcT>gcC	p.A269A		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	269					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A269A(1)		skin(1)	1						AATGTGGGGCTCCAGCCAGTA	0.567																																					p.A269A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T807C	17						.						86.0	95.0	92.0					17																	6928437		1943	4146	6089	6869161	SO:0001819	synonymous_variant	255877	exon5			AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.807T>C	17.37:g.6928437T>C			6869161	NM_181844	Q6PCB4	Silent	SNP	ENST00000293805.5	37	CCDS42248.1																																																																																				0.567	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844	
FLII	2314	broad.mit.edu	37	17	18156752	18156752	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr17:18156752delG	ENST00000327031.4	-	9	1101	c.876delC	c.(874-876)agcfs	p.S292fs	FLII_ENST00000579294.1_Frame_Shift_Del_p.S281fs|FLII_ENST00000584444.1_5'UTR|FLII_ENST00000545457.2_Frame_Shift_Del_p.S238fs|FLII_ENST00000379450.4_Frame_Shift_Del_p.S207fs|FLII_ENST00000578558.1_Frame_Shift_Del_p.S292fs	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	292	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.S292fs*3(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TCTTCAGCTTGCTCAGCTTGC	0.597																																					p.S292fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.876delC	17						.						69.0	69.0	69.0					17																	18156752		2203	4300	6503	18097477	SO:0001589	frameshift_variant	2314	exon9			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.876delC	17.37:g.18156752delG	ENSP00000324573:p.Ser292fs		18097477	NM_002018	B4DIL0|F5H407|J3QLG3	Frame_Shift_Del	DEL	ENST00000327031.4	37	CCDS11192.1																																																																																				0.597	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018	
KCNJ12	3768	broad.mit.edu	37	17	21319335	21319336	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	TG	TG	TG	TG	TG	TG	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr17:21319335_21319336delTG	ENST00000583088.1	+	3	1576_1577	c.681_682delTG	c.(679-684)catgtgfs	p.V228fs	KCNJ12_ENST00000331718.5_Frame_Shift_Del_p.V228fs	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	228					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TGGAGGCCCATGTGCGCGCGCA	0.644										Prostate(3;0.18)																											p.227_228del												.	.	0			c.681_682del	17						.																																			21259929	SO:0001589	frameshift_variant	3768	exon3			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.681_682delTG	17.37:g.21319337_21319338delTG	ENSP00000463778:p.Val228fs		21259928	NM_021012	O43401|Q15756|Q8NG63	Frame_Shift_Del	DEL	ENST00000583088.1	37	CCDS11219.1																																																																																				0.644	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
CDC27	996	broad.mit.edu	37	17	45234725	45234725	+	Silent	SNP	T	T	C			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr17:45234725T>C	ENST00000066544.3	-	6	594	c.501A>G	c.(499-501)acA>acG	p.T167T	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Silent_p.T167T|CDC27_ENST00000446365.2_Silent_p.T106T|CDC27_ENST00000527547.1_Silent_p.T167T	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.T167T(7)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGAATTTAAATGTTTGGTCAG	0.368																																					p.T167T												.	.	7	Substitution - coding silent(7)	large_intestine(4)|prostate(3)	c.A501G	17						.						74.0	74.0	74.0					17																	45234725		2203	4300	6503	42589724	SO:0001819	synonymous_variant	996	exon6			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.501A>G	17.37:g.45234725T>C			42589724	NM_001114091	G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	CCDS11509.1																																																																																				0.368	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
SERPINB4	6318	broad.mit.edu	37	18	61305085	61305085	+	Silent	SNP	G	G	A			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr18:61305085G>A	ENST00000341074.5	-	8	1156	c.1041C>T	c.(1039-1041)acC>acT	p.T347T	SERPINB4_ENST00000356424.6_Silent_p.T295T	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	347					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T347T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						CTACTACAGCGGTGGCAGCTG	0.468																																					p.T347T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1041T	18						.						103.0	100.0	101.0					18																	61305085		2203	4300	6503	59456065	SO:0001819	synonymous_variant	6318	exon8			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.1041C>T	18.37:g.61305085G>A			59456065	NM_002974	A8K847	Silent	SNP	ENST00000341074.5	37	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	G	1.663	-0.511045	0.04231	.	.	ENSG00000206073	ENST00000413673	.	.	.	4.51	-9.03	0.00737	.	.	.	.	.	T	0.33904	0.0879	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57406	-0.7817	4	.	.	.	.	1.5806	0.02633	0.1248:0.2586:0.2425:0.3741	.	.	.	.	L	328	.	.	P	-	2	0	SERPINB4	59456065	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-10.333000	0.00007	-5.147000	0.00020	-2.354000	0.00241	CCG		0.468	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041	
CRTC1	23373	broad.mit.edu	37	19	18887992	18887993	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	-	-	-	C	-	C	Unknown	Valid	Germline	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr19:18887992_18887993insC	ENST00000321949.8	+	14	1731_1732	c.1705_1706insC	c.(1705-1707)tccfs	p.S569fs	CRTC1_ENST00000601916.1_Frame_Shift_Ins_p.S327fs|CRTC1_ENST00000594658.1_Frame_Shift_Ins_p.S528fs|CRTC1_ENST00000338797.6_Frame_Shift_Ins_p.S585fs	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1									p.S572fs*6(2)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GACAGGAGAGTCCCCCCCCAGC	0.639																																					p.S569fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.1705_1706insC	19						.																																			18748993	SO:0001589	frameshift_variant	23373	exon14			AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1713dupC	19.37:g.18888000_18888000dupC	ENSP00000323332:p.Ser569fs		18748992	NM_015321		Frame_Shift_Ins	INS	ENST00000321949.8	37	CCDS32963.1																																																																																				0.639	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021	
ZNF429	353088	broad.mit.edu	37	19	21720352	21720353	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr19:21720352_21720353insA	ENST00000358491.4	+	4	1705_1706	c.1497_1498insA	c.(1498-1500)aaafs	p.K500fs	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	500					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)	p.I502fs*3(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TTAACAGTCATAAAAAAATTCA	0.381																																					p.H499fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1497_1498insA	19						.																																			21512193	SO:0001589	frameshift_variant	353088	exon4			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1504dupA	19.37:g.21720359_21720359dupA	ENSP00000351280:p.Lys500fs		21512192	NM_001001415	A6NLV7|Q9BZE6	Frame_Shift_Ins	INS	ENST00000358491.4	37	CCDS42537.1																																																																																				0.381	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415	
SCAF1	58506	broad.mit.edu	37	19	50156577	50156578	+	Frame_Shift_Ins	INS	-	-	C	rs575769784	byFrequency	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	-	-	-	-	-	-	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr19:50156577_50156578insC	ENST00000360565.3	+	7	3055_3056	c.2931_2932insC	c.(2932-2934)cccfs	p.P978fs		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	978					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CTAGCACCCCGCCCCCCAAGGC	0.693																																					p.P977fs												.	.	0			c.2931_2932insC	19						.																																			54848390	SO:0001589	frameshift_variant	58506	exon7			AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.2937dupC	19.37:g.50156583_50156583dupC	ENSP00000353769:p.Pro978fs		54848389	NM_021228	Q7Z5V7|Q8WVA1|Q9NR59	Frame_Shift_Ins	INS	ENST00000360565.3	37	CCDS33074.1																																																																																				0.693	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228	
CEACAM3	1084	broad.mit.edu	37	19	42301733	42301733	+	Missense_Mutation	SNP	G	G	C	rs61737016	byFrequency	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr19:42301733G>C	ENST00000357396.3	+	2	518	c.277G>C	c.(277-279)Gcc>Ccc	p.A93P	CEACAM3_ENST00000344550.4_Missense_Mutation_p.A93P|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Missense_Mutation_p.A93P	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	93	Ig-like V-type.					integral component of membrane (GO:0016021)		p.A93P(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						TACCCCAGGGGCCGCATACAG	0.463																																					p.A93P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G277C	19						.	G	PRO/ALA	41,4317		16,9,2154	182.0	204.0	197.0		277	-0.6	0.0	19	dbSNP_129	197	0,8600		0,0,4300	no	missense	CEACAM3	NM_001815.2	27	16,9,6454	CC,CG,GG		0.0,0.9408,0.3164	benign	93/253	42301733	41,12917	2179	4300	6479	46993573	SO:0001583	missense	1084	exon2			E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.277G>C	19.37:g.42301733G>C	ENSP00000349971:p.Ala93Pro		46993573	NM_001815	G5E978|Q3KPH9	Missense_Mutation	SNP	ENST00000357396.3	37	CCDS12586.2	73	0.033424908424908424	61	0.12398373983739837	11	0.03038674033149171	1	0.0017482517482517483	0	0.0	G	0.017	-1.506343	0.00992	0.009408	0.0	ENSG00000170956	ENST00000357396;ENST00000389667;ENST00000221999;ENST00000344550	T;T;T	0.01388	4.95;4.95;4.95	3.44	-0.646	0.11472	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	N	0.00012	-2.96	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.0	T	0.44667	-0.9313	9	0.02654	T	1	.	6.885	0.24195	0.1778:0.4701:0.3521:0.0	rs61737016	93;93	G5E978;P40198	.;CEAM3_HUMAN	P	93	ENSP00000349971:A93P;ENSP00000221999:A93P;ENSP00000341725:A93P	ENSP00000221999:A93P	A	+	1	0	CEACAM3	46993573	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.640000	0.05440	0.106000	0.17784	-0.286000	0.09958	GCC		0.463	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	NM_001815	
PRR12	57479	broad.mit.edu	37	19	50119275	50119275	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr19:50119275C>T	ENST00000418929.2	+	9	5308	c.5296C>T	c.(5296-5298)Cgg>Tgg	p.R1766W		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	945							DNA binding (GO:0003677)	p.R946W(1)|p.R1766W(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACGGCAGACACGGCCAGAGCG	0.647																																					p.R1766W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5296T	19						.						12.0	20.0	17.0					19																	50119275		2056	4104	6160	54811087	SO:0001583	missense	57479	exon9			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.5296C>T	19.37:g.50119275C>T	ENSP00000394510:p.Arg1766Trp		54811087	NM_020719	E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	C	9.568	1.120169	0.20877	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	4.9	1.5	0.22942	.	0.174888	0.27807	N	0.017773	T	0.30759	0.0775	L	0.40543	1.245	0.24767	N	0.992898	B	0.24882	0.113	B	0.21708	0.036	T	0.25398	-1.0133	9	0.72032	D	0.01	-27.7002	8.0481	0.30562	0.2808:0.6424:0.0:0.0767	.	1766	Q9ULL5-3	.	W	1766;946;946	.	ENSP00000246798:R946W	R	+	1	2	PRR12	54811087	0.014000	0.17966	0.292000	0.24919	0.004000	0.04260	0.723000	0.25939	0.244000	0.21351	-1.272000	0.01410	CGG		0.647	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719	
ZC3H11A	9877	broad.mit.edu	37	1	203816503	203816504	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	-	-	-	-	-	-	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr1:203816503_203816504insA	ENST00000545588.1	+	12	5061_5062	c.1234_1235insA	c.(1234-1236)gaafs	p.E412fs	ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.E412fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.E412fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.E412fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.E412fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	412				E -> K (in Ref. 3; CAH10525). {ECO:0000305}.	poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGTCCTGGCTGAAAAAAAACAT	0.386																																					p.E412fs												.	.	0			c.1234_1235insA	1						.																																			202083127	SO:0001589	frameshift_variant	9877	exon15				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1242dupA	1.37:g.203816511_203816511dupA	ENSP00000438527:p.Glu412fs		202083126	NM_014827	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Frame_Shift_Ins	INS	ENST00000545588.1	37	CCDS30978.1																																																																																				0.386	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827	
OBSCN	84033	broad.mit.edu	37	1	228559751	228559752	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	-	-	-	-	-	-	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr1:228559751_228559752insC	ENST00000422127.1	+	94	21316_21317	c.21272_21273insC	c.(21271-21276)agccccfs	p.SP7091fs	OBSCN_ENST00000366707.4_Frame_Shift_Ins_p.SP4725fs|OBSCN_ENST00000570156.2_Frame_Shift_Ins_p.SP8048fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7091	Pro-rich.				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)				GCCAAAGCAAGCCCCCCATTGG	0.639																																					p.S7091fs												.	.	0			c.21272_21273insC	1						.																																			226626375	SO:0001589	frameshift_variant	84033	exon94			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.21278dupC	1.37:g.228559757_228559757dupC	ENSP00000409493:p.Ser7091fs		226626374	NM_001098623	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Ins	INS	ENST00000422127.1	37	CCDS58065.1																																																																																				0.639	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
MIIP	60672	broad.mit.edu	37	1	12082307	12082307	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr1:12082307delG	ENST00000235332.4	+	3	439	c.270delG	c.(268-270)tcgfs	p.S90fs	MIIP_ENST00000436478.2_Frame_Shift_Del_p.S90fs|Y_RNA_ENST00000365591.1_RNA|MIIP_ENST00000466860.1_3'UTR	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	90								p.V92fs*31(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TGGCCAGATCGGGGGTGGCCT	0.682																																					p.S90fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.270delG	1						.						46.0	50.0	49.0					1																	12082307		2203	4298	6501	12004894	SO:0001589	frameshift_variant	60672	exon3			AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"""invasion inhibitory protein 45"""	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.270delG	1.37:g.12082307delG	ENSP00000235332:p.Ser90fs		12004894	NM_021933	C0KL22|Q96HU6|Q9H839|Q9HA00	Frame_Shift_Del	DEL	ENST00000235332.4	37	CCDS143.1																																																																																				0.682	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006941.1	NM_021933	
ADAM33	80332	broad.mit.edu	37	20	3654145	3654146	+	Splice_Site	INS	-	-	G			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr20:3654145_3654146insG	ENST00000356518.2	-	11	1232		c.e11-2		ADAM33_ENST00000466620.1_Splice_Site|ADAM33_ENST00000350009.2_Splice_Site|ADAM33_ENST00000379861.4_Splice_Site	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33						proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CGAGTGGTCCTGGGGGGCCGTG	0.743																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	20						.																																			3602146	SO:0001630	splice_region_variant	80332	.			AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.991-2->C	20.37:g.3654151_3654151dupG			3602145	.	A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Splice_Site	INS	ENST00000356518.2	37	CCDS13058.1																																																																																				0.743	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220	Intron
SIRPB2	284759	broad.mit.edu	37	20	1471968	1471968	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr20:1471968T>C	ENST00000359801.3	-	1	74	c.38A>G	c.(37-39)cAc>cGc	p.H13R	AL109658.1_ENST00000580848.1_RNA|SIRPB2_ENST00000537284.1_5'UTR|SIRPB2_ENST00000444444.2_Missense_Mutation_p.H13R	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	9					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.H13R(1)|p.H112R(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGGAGGCAAGTGGGCCAGGCA	0.612																																					p.H13R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A38G	20						.						40.0	50.0	47.0					20																	1471968		1568	3582	5150	1419968	SO:0001583	missense	284759	exon1			AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.38A>G	20.37:g.1471968T>C	ENSP00000352849:p.His13Arg		1419968	NM_001122962	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	37	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	T	4.052	0.007303	0.07866	.	.	ENSG00000196209	ENST00000359801;ENST00000444444;ENST00000381630;ENST00000381628	T;T;T	0.02656	4.33;4.24;4.21	3.29	-3.22	0.05125	.	2.907950	0.01309	N	0.010548	T	0.01976	0.0062	N	0.19112	0.55	0.18873	N	0.999982	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43702	-0.9375	10	0.06494	T	0.89	.	5.9881	0.19446	0.0:0.3994:0.1459:0.4547	.	13;13	E9PCW6;Q5JXA9	.;SIRB2_HUMAN	R	13	ENSP00000352849:H13R;ENSP00000402438:H13R;ENSP00000371043:H13R	ENSP00000352849:H13R	H	-	2	0	SIRPB2	1419968	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.675000	0.01947	-1.242000	0.02523	-1.963000	0.00474	CAC		0.612	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459	
MAVS	57506	broad.mit.edu	37	20	3846610	3846610	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr20:3846610delA	ENST00000428216.2	+	7	1567	c.1439delA	c.(1438-1440)gagfs	p.E480fs	MAVS_ENST00000416600.2_Frame_Shift_Del_p.E339fs|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	480					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.E480fs*43(1)		autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CAGCTCCTGGAGGGCAACCCT	0.657																																					p.E480fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1439delA	20						.						36.0	42.0	40.0					20																	3846610		2203	4300	6503	3794610	SO:0001589	frameshift_variant	57506	exon7			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.1439delA	20.37:g.3846610delA	ENSP00000401980:p.Glu480fs		3794610	NM_020746	A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Frame_Shift_Del	DEL	ENST00000428216.2	37	CCDS33437.1																																																																																				0.657	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746	
DZANK1	55184	broad.mit.edu	37	20	18429710	18429710	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr20:18429710G>T	ENST00000358866.6	-	6	569	c.547C>A	c.(547-549)Ccc>Acc	p.P183T	DZANK1_ENST00000329494.5_Missense_Mutation_p.P185T|DZANK1_ENST00000357236.4_Missense_Mutation_p.P69T|DZANK1_ENST00000262547.5_Missense_Mutation_p.P183T|DZANK1_ENST00000487128.1_5'UTR			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	183							zinc ion binding (GO:0008270)	p.P183T(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						GCAAAACCGGGGGACTAAAAT	0.353																																					p.P183T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C547A	20						.						97.0	89.0	92.0					20																	18429710		1822	4083	5905	18377710	SO:0001583	missense	55184	exon7			AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.547C>A	20.37:g.18429710G>T	ENSP00000351734:p.Pro183Thr		18377710	NM_001099407	B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	ENST00000358866.6	37	CCDS46582.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234425	0.22626	.	.	ENSG00000089091	ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000377637;ENST00000357236	T;T;T;T	0.75154	-0.08;1.02;1.02;-0.91	5.0	2.61	0.31194	.	0.847465	0.10688	N	0.645538	T	0.61590	0.2359	L	0.42245	1.32	0.28789	N	0.899439	B;B;B	0.28419	0.006;0.211;0.036	B;B;B	0.22601	0.006;0.04;0.034	T	0.55560	-0.8122	10	0.41790	T	0.15	-11.4388	4.3435	0.11122	0.1276:0.0:0.4996:0.3729	.	202;69;183	B7Z631;Q9NVP4-4;Q9NVP4	.;.;DZAN1_HUMAN	T	10;183;185;9;9;69	ENSP00000366857:P10T;ENSP00000262547:P183T;ENSP00000328866:P185T;ENSP00000349774:P69T	ENSP00000262547:P183T	P	-	1	0	C20orf12	18377710	0.579000	0.26725	0.981000	0.43875	0.439000	0.31926	1.161000	0.31773	1.122000	0.41944	0.650000	0.86243	CCC		0.353	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407	
NCAM2	4685	broad.mit.edu	37	21	22696812	22696812	+	Silent	SNP	C	C	T			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr21:22696812C>T	ENST00000400546.1	+	6	978	c.729C>T	c.(727-729)tcC>tcT	p.S243S	NCAM2_ENST00000535285.1_Silent_p.S268S|NCAM2_ENST00000284894.7_Silent_p.S101S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	243	Ig-like C2-type 3.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S243S(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CCGCCATCTCCTGGTTCAGGT	0.468																																					p.S243S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C729T	21						.						86.0	87.0	87.0					21																	22696812		1915	4133	6048	21618683	SO:0001819	synonymous_variant	4685	exon6				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.729C>T	21.37:g.22696812C>T			21618683	NM_004540	A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	CCDS42910.1																																																																																				0.468	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540	
GRIK1	2897	broad.mit.edu	37	21	30963507	30963507	+	Silent	SNP	C	C	T	rs144528849		TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr21:30963507C>T	ENST00000399907.1	-	10	1701	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	GRIK1_ENST00000389124.2_Silent_p.T430T|GRIK1_ENST00000309434.7_Silent_p.T432T|GRIK1_ENST00000389125.3_Silent_p.T415T|GRIK1_ENST00000535441.1_Silent_p.T432T|GRIK1_ENST00000399913.1_Silent_p.T430T|GRIK1_ENST00000399914.1_Silent_p.T415T|GRIK1_ENST00000399909.1_Silent_p.T415T|GRIK1_ENST00000327783.4_Silent_p.T430T	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	430					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.T430T(1)|p.T415T(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TGTTGCTGTCCGTCATGTTAA	0.448																																					p.T415T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1245A	21						.	C	,	2,4404	4.2+/-10.8	0,2,2201	397.0	313.0	341.0		1290,1245	-10.1	0.1	21	dbSNP_134	341	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GRIK1	NM_000830.3,NM_175611.2	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	430/919,415/906	30963507	2,13004	2203	4300	6503	29885378	SO:0001819	synonymous_variant	2897	exon9				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1290G>A	21.37:g.30963507C>T			29885378	NM_175611	Q13001|Q86SU9	Silent	SNP	ENST00000399907.1	37	CCDS42913.1																																																																																				0.448	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1		
FTCD	10841	broad.mit.edu	37	21	47575389	47575389	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr21:47575389delG	ENST00000291670.5	-	1	92	c.49delC	c.(49-51)cagfs	p.Q17fs	FTCD_ENST00000355384.2_Frame_Shift_Del_p.Q17fs|FTCD_ENST00000359679.2_Frame_Shift_Del_p.Q17fs|FTCD_ENST00000397746.3_Frame_Shift_Del_p.Q17fs|FTCD_ENST00000397748.1_Frame_Shift_Del_p.Q17fs|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397743.1_Frame_Shift_Del_p.Q17fs|FTCD_ENST00000498355.2_5'UTR	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	17	Formiminotransferase N-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)	p.Q17fs*3(1)		endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	CTCACCTCCTGGTTCTTCCCC	0.617																																					p.Q17fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.49delC	21						.						111.0	82.0	92.0					21																	47575389		2201	4299	6500	46399817	SO:0001589	frameshift_variant	10841	exon1			U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.49delC	21.37:g.47575389delG	ENSP00000291670:p.Gln17fs		46399817	NM_006657	B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Frame_Shift_Del	DEL	ENST00000291670.5	37	CCDS13731.1																																																																																				0.617	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657	
SEPT5	5413	broad.mit.edu	37	22	19707736	19707736	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr22:19707736delG	ENST00000455784.2	+	5	462	c.337delG	c.(337-339)gggfs	p.G113fs	SEPT5_ENST00000438754.2_Frame_Shift_Del_p.G122fs|SEPT5_ENST00000406395.1_Frame_Shift_Del_p.G113fs|SEPT5_ENST00000383045.3_Frame_Shift_Del_p.G122fs|GP1BB_ENST00000366425.3_5'Flank	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	113	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.D114fs*62(1)		lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GCCGGGATTCGGGGACGCTGT	0.597																																					p.G122fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.364delG	22						.						110.0	91.0	97.0					22																	19707736		2202	4300	6502	18087736	SO:0001589	frameshift_variant	5413	exon4			Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.337delG	22.37:g.19707736delG	ENSP00000391311:p.Gly113fs		18087736	NM_001009939	O15251|Q96MY5	Frame_Shift_Del	DEL	ENST00000455784.2	37	CCDS13764.1																																																																																				0.597	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688	
CCDC108	255101	broad.mit.edu	37	2	219888984	219888985	+	Splice_Site	INS	-	-	G			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	-	-	-	-	-	-	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr2:219888984_219888985insG	ENST00000341552.5	-	15	2433		c.e15-2		CCDC108_ENST00000441968.1_Splice_Site|CCDC108_ENST00000453220.1_Splice_Site	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108							integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGAAATAGCTGGGGGTGGGAG	0.634																																					.												.	.	0			.	2						.																																			219597229	SO:0001630	splice_region_variant	255101	.			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2350-2->C	2.37:g.219888989_219888989dupG			219597228	.	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Splice_Site	INS	ENST00000341552.5	37	CCDS2430.2																																																																																				0.634	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302	Intron
IL18R1	8809	broad.mit.edu	37	2	103013143	103013143	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr2:103013143G>A	ENST00000409599.1	+	12	1779	c.1423G>A	c.(1423-1425)Gaa>Aaa	p.E475K	IL18R1_ENST00000233957.1_Missense_Mutation_p.E475K			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	475	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)	p.E475K(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AATCTTAATTGAATTTACACC	0.348																																					p.E475K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1423A	2						.						73.0	77.0	76.0					2																	103013143		2203	4300	6503	102379575	SO:0001583	missense	8809	exon10			U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.1423G>A	2.37:g.103013143G>A	ENSP00000387211:p.Glu475Lys		102379575	NM_003855	B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160146	0.57368	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.02446	4.29;4.29;4.29	5.59	2.33	0.28932	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.245470	0.36101	N	0.002798	T	0.06416	0.0165	L	0.45744	1.44	0.80722	D	1	P;P	0.52692	0.955;0.955	P;P	0.57204	0.815;0.815	T	0.43669	-0.9377	10	0.30078	T	0.28	.	9.1106	0.36725	0.0901:0.2492:0.6607:0.0	.	474;475	B7ZKV7;Q13478	.;IL18R_HUMAN	K	475	ENSP00000386663:E475K;ENSP00000387211:E475K;ENSP00000233957:E475K	ENSP00000233957:E475K	E	+	1	0	IL18R1	102379575	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	3.130000	0.50508	0.221000	0.20879	0.563000	0.77884	GAA		0.348	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855	
MBD5	55777	broad.mit.edu	37	2	149243447	149243447	+	Silent	SNP	G	G	A	rs572893308		TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr2:149243447G>A	ENST00000407073.1	+	11	3979	c.2982G>A	c.(2980-2982)gcG>gcA	p.A994A	MBD5_ENST00000404807.1_Silent_p.A1227A	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	994					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A994A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATCTCCAGGCGTTCCAAGGAC	0.458													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16638	0.0		0.0	False		,,,				2504	0.0				p.A994A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2982A	2						.						116.0	119.0	118.0					2																	149243447		2203	4300	6503	148959917	SO:0001819	synonymous_variant	55777	exon11			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2982G>A	2.37:g.149243447G>A			148959917	NM_018328	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.371559	0.24771	.	.	ENSG00000204406	ENST00000416015	.	.	.	5.47	-3.25	0.05079	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37267	-0.9713	4	.	.	.	-1.8256	2.4518	0.04520	0.2503:0.4233:0.1571:0.1693	.	.	.	.	H	967	.	.	R	+	2	0	MBD5	148959917	0.710000	0.27896	0.997000	0.53966	0.993000	0.82548	-0.194000	0.09559	-0.164000	0.10927	-0.469000	0.05056	CGT		0.458	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2		
SCN9A	6335	broad.mit.edu	37	2	167055665	167055665	+	Silent	SNP	C	C	T			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr2:167055665C>T	ENST00000409435.1	-	26	5483	c.5484G>A	c.(5482-5484)ctG>ctA	p.L1828L	SCN9A_ENST00000409672.1_Silent_p.L1817L|SCN9A_ENST00000375387.4_Silent_p.L1829L|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.L1829L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1828					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.L1817L(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAACCATGGGCAGATCCATGG	0.453																																					p.L1817L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5451A	2						.						122.0	123.0	123.0					2																	167055665		2203	4300	6503	166763911	SO:0001819	synonymous_variant	6335	exon27			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5484G>A	2.37:g.167055665C>T			166763911	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	CCDS46441.1																																																																																				0.453	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
TTN	7273	broad.mit.edu	37	2	179395936	179395936	+	Missense_Mutation	SNP	G	G	A	rs372875128		TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr2:179395936G>A	ENST00000591111.1	-	308	100707	c.100483C>T	c.(100483-100485)Cgg>Tgg	p.R33495W	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26263W|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R26196W|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R26071W|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R35136W|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32568W|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33495	Ig-like 147.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R26071W(1)|p.R32566W(1)|p.R26263W(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCATGGACCGTGGCTTTGTT	0.473																																					p.H26070H												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C78210T	2						.						154.0	165.0	161.0					2																	179395936		1948	4141	6089	179104182	SO:0001583	missense	7273	exon186			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.100483C>T	2.37:g.179395936G>A	ENSP00000465570:p.Arg33495Trp		179104182	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	16.64	3.180422	0.57800	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.1	4.17	0.49024	Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79964	0.4537	M	0.81942	2.565	0.36263	D	0.854691	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.63597	0.916;0.916;0.916;0.916	D	0.85805	0.1376	9	0.87932	D	0	.	12.4848	0.55866	0.0:0.0:0.6265:0.3735	.	26071;26196;26263;33495	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	32568;26071;26263;26196;26068	ENSP00000343764:R32568W;ENSP00000434586:R26071W;ENSP00000340554:R26263W;ENSP00000352154:R26196W	ENSP00000340554:R26263W	R	-	1	2	TTN	179104182	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	3.792000	0.55476	1.014000	0.39417	0.555000	0.69702	CGG		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
COL3A1	1281	broad.mit.edu	37	2	189861915	189861915	+	Silent	SNP	C	C	A	rs587779527		TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr2:189861915C>A	ENST00000304636.3	+	25	1956	c.1786C>A	c.(1786-1788)Cga>Aga	p.R596R	COL3A1_ENST00000317840.5_Silent_p.R596R	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	596	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.R596R(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GAATGGAGAACGAGGTGGCCC	0.423																																					p.R596R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1786A	2						.						129.0	131.0	130.0					2																	189861915		2203	4300	6503	189570160	SO:0001819	synonymous_variant	1281	exon25			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1786C>A	2.37:g.189861915C>A			189570160	NM_000090	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	CCDS2297.1																																																																																				0.423	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
FZD7	8324	broad.mit.edu	37	2	202899608	202899608	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr2:202899608G>A	ENST00000286201.1	+	1	299	c.238G>A	c.(238-240)Ggc>Agc	p.G80S	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	80	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.G80S(1)		breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						AGAGGACGCGGGCCTCGAGGT	0.612																																					p.G80S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G238A	2						.						116.0	107.0	110.0					2																	202899608		2203	4300	6503	202607853	SO:0001583	missense	8324	exon1			AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.238G>A	2.37:g.202899608G>A	ENSP00000286201:p.Gly80Ser		202607853	NM_003507	O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753200	0.89753	.	.	ENSG00000155760	ENST00000286201	T	0.74842	-0.88	5.0	5.0	0.66597	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.82907	0.5139	L	0.52759	1.655	0.80722	D	1	D	0.54397	0.966	D	0.66979	0.948	D	0.84225	0.0463	10	0.59425	D	0.04	.	18.2988	0.90157	0.0:0.0:1.0:0.0	.	80	O75084	FZD7_HUMAN	S	80	ENSP00000286201:G80S	ENSP00000286201:G80S	G	+	1	0	FZD7	202607853	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.864000	0.99589	2.306000	0.77630	0.313000	0.20887	GGC		0.612	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507	
GPR75-ASB3	100302652	broad.mit.edu	37	2	53941579	53941579	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr2:53941579C>A	ENST00000263634.3	-	7	1056	c.922G>T	c.(922-924)Gcc>Tcc	p.A308S	GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.A346S|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.A235S|ASB3_ENST00000498475.2_5'UTR|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.A235S|ASB3_ENST00000406625.2_Missense_Mutation_p.A343S|GPR75-ASB3_ENST00000482829.1_5'UTR	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough									p.A308S(1)									CACGCCTGGGCGTCTGGGCTG	0.423																																					p.A308S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G922T	2						.						105.0	105.0	105.0					2																	53941579		2203	4300	6503	53795083	SO:0001583	missense	51130	exon7				CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.922G>T	2.37:g.53941579C>A	ENSP00000263634:p.Ala308Ser		53795083	NM_016115		Missense_Mutation	SNP	ENST00000263634.3	37	CCDS1846.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.081559|5.081559	0.94050|0.94050	.|.	.|.	ENSG00000115239|ENSG00000115239	ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846;ENST00000446049|ENST00000406053	T;T;T;T;T|.	0.69435|.	-0.11;-0.11;-0.4;-0.4;-0.11|.	6.02|6.02	6.02|6.02	0.97574|0.97574	Ankyrin repeat-containing domain (4);|.	0.047372|.	0.85682|.	D|.	0.000000|.	T|T	0.80380|0.80380	0.4612|0.4612	M|M	0.72479|0.72479	2.2|2.2	.|.	.|.	.|.	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.81914|.	0.995;0.977;0.963|.	T|T	0.77284|0.77284	-0.2645|-0.2645	9|4	0.33141|.	T|.	0.24|.	.|.	20.5407|20.5407	0.99260|0.99260	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	225;343;308|.	B4DZX6;Q2TAI4;Q9Y575|.	.;.;ASB3_HUMAN|.	S|L	308;343;235;235;346;225|300	ENSP00000263634:A308S;ENSP00000385085:A343S;ENSP00000384728:A235S;ENSP00000378206:A235S;ENSP00000313756:A346S|.	ENSP00000263634:A308S|.	A|R	-|-	1|2	0|0	ASB3|ASB3	53795083|53795083	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	7.294000|7.294000	0.78760|0.78760	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.423	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3		
NYAP2	57624	broad.mit.edu	37	2	226446723	226446723	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr2:226446723G>A	ENST00000272907.6	+	4	1003	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	197					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.R197Q(2)									AAACCGAAGCGAAATCCGAAC	0.502																																					p.R197Q												.	.	2	Substitution - Missense(2)	cervix(1)|large_intestine(1)	c.G590A	2						.						119.0	124.0	122.0					2																	226446723		1929	4133	6062	226154967	SO:0001583	missense	57624	exon4			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.590G>A	2.37:g.226446723G>A	ENSP00000272907:p.Arg197Gln		226154967	NM_020864	A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448812	0.84101	.	.	ENSG00000144460	ENST00000272907	T	0.72394	-0.65	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.85890	0.5802	M	0.79693	2.465	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.86308	0.1684	10	0.72032	D	0.01	-27.5579	20.3541	0.98825	0.0:0.0:1.0:0.0	.	197	Q9P242	K1486_HUMAN	Q	197	ENSP00000272907:R197Q	ENSP00000272907:R197Q	R	+	2	0	KIAA1486	226154967	1.000000	0.71417	0.267000	0.24556	0.429000	0.31625	9.472000	0.97709	2.816000	0.96949	0.644000	0.83932	CGA		0.502	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
POLQ	10721	broad.mit.edu	37	3	121206740	121206740	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr3:121206740C>T	ENST00000264233.5	-	16	5166	c.5038G>A	c.(5038-5040)Gaa>Aaa	p.E1680K		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1680					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.E1815K(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GAAATAACTTCTTGTTCTTCA	0.294								DNA polymerases (catalytic subunits)																													p.E1680K	Pancreas(152;907 1925 26081 31236 36904)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5038A	3						.						57.0	63.0	61.0					3																	121206740		2202	4297	6499	122689430	SO:0001583	missense	10721	exon16			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.5038G>A	3.37:g.121206740C>T	ENSP00000264233:p.Glu1680Lys		122689430	NM_199420	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	6.316	0.426362	0.11987	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.54071	0.59	5.51	4.64	0.57946	.	0.724762	0.13246	N	0.402438	T	0.35068	0.0919	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.27997	0.027;0.197	B;B	0.25614	0.012;0.062	T	0.20571	-1.0271	10	0.41790	T	0.15	.	10.1835	0.42984	0.0:0.7922:0.1361:0.0717	.	1680;852	O75417;O75417-2	DPOLQ_HUMAN;.	K	1303;1680;1816	ENSP00000264233:E1680K	ENSP00000264233:E1680K	E	-	1	0	POLQ	122689430	0.984000	0.35163	0.289000	0.24876	0.019000	0.09904	1.482000	0.35486	1.482000	0.48325	0.655000	0.94253	GAA		0.294	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	
MBD4	8930	broad.mit.edu	37	3	129150421	129150421	+	Splice_Site	SNP	C	C	T			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr3:129150421C>T	ENST00000249910.1	-	8	1841	c.1666G>A	c.(1666-1668)Gtg>Atg	p.V556M	MBD4_ENST00000509587.1_5'Flank|EFCAB12_ENST00000326085.3_5'Flank|MBD4_ENST00000393278.2_Splice_Site_p.V238M|EFCAB12_ENST00000505956.1_5'Flank|MBD4_ENST00000429544.2_Splice_Site_p.V550M|MBD4_ENST00000503197.1_Splice_Site_p.G538D	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	556					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.V556M(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TCAGGGTGCACCTGGAAGAAA	0.348								Base excision repair (BER), DNA glycosylases																													p.V556M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1666A	3						.						138.0	145.0	143.0					3																	129150421		2203	4300	6503	130633111	SO:0001630	splice_region_variant	8930	exon8			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1666-1G>A	3.37:g.129150421C>T			130633111	NM_003925	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	CCDS3058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.323714|4.323714	0.81580|0.81580	.|.	.|.	ENSG00000129071|ENSG00000129071	ENST00000503197|ENST00000429544;ENST00000249910;ENST00000393278	D|T;T;T	0.86164|0.48836	-2.08|0.8;0.8;0.8	4.98|4.98	4.98|4.98	0.66077|0.66077	.|DNA glycosylase (2);	.|0.128767	.|0.50627	.|D	.|0.000101	T|T	0.75406|0.75406	0.3845|0.3845	M|M	0.90198|0.90198	3.095|3.095	0.80722|0.80722	D|D	1|1	D|D;D;D	0.89917|0.89917	1.0|1.0;1.0;1.0	D|D;D;D	0.97110|0.97110	1.0|1.0;1.0;1.0	T|T	0.81521|0.81521	-0.0895|-0.0895	9|10	0.87932|0.87932	D|D	0|0	-12.9607|-12.9607	18.2844|18.2844	0.90110|0.90110	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	538|238;550;556	O95243-3|Q2MD36;O95243-2;O95243	.|.;.;MBD4_HUMAN	D|M	538|550;556;238	ENSP00000424873:G538D|ENSP00000394080:V550M;ENSP00000249910:V556M;ENSP00000376959:V238M	ENSP00000424873:G538D|ENSP00000249910:V556M	G|V	-|-	2|1	0|0	MBD4|MBD4	130633111|130633111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	6.370000|6.370000	0.73114|0.73114	2.501000|2.501000	0.84356|0.84356	0.555000|0.555000	0.69702|0.69702	GGT|GTG		0.348	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925	Missense_Mutation
ARHGEF26	26084	broad.mit.edu	37	3	153909140	153909140	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr3:153909140A>G	ENST00000356448.4	+	8	1987	c.1703A>G	c.(1702-1704)aAc>aGc	p.N568S	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.N568S	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	568	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N568S(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GACTGTAGGAACTTACCCATG	0.443																																					p.N568S	GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1703G	3						.						115.0	105.0	108.0					3																	153909140		1922	4145	6067	155391830	SO:0001583	missense	26084	exon8			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1703A>G	3.37:g.153909140A>G	ENSP00000348828:p.Asn568Ser		155391830	NM_015595	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.008100	0.54361	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.61980	0.06;0.06	5.22	5.22	0.72569	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.70579	0.3240	L	0.40543	1.245	0.80722	D	1	P;D	0.76494	0.824;0.999	P;D	0.72625	0.695;0.978	T	0.68135	-0.5489	10	0.30854	T	0.27	-37.4784	15.4105	0.74914	1.0:0.0:0.0:0.0	.	568;568	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	S	568	ENSP00000348828:N568S;ENSP00000423418:N568S	ENSP00000348828:N568S	N	+	2	0	ARHGEF26	155391830	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	4.790000	0.62453	2.100000	0.63781	0.533000	0.62120	AAC		0.443	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595	
UBA6	55236	broad.mit.edu	37	4	68566891	68566892	+	5'UTR	INS	-	-	G	rs34378415|rs397880384	byFrequency	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr4:68566891_68566892insG	ENST00000322244.5	-	0	5_6				UBA6-AS1_ENST00000498917.2_RNA|UBA6-AS1_ENST00000514109.1_RNA|UBA6-AS1_ENST00000506606.1_RNA|UBA6-AS1_ENST00000500538.2_RNA|UBA6_ENST00000420827.2_5'Flank	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6						protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GGCGGGACCGTGGGGGGGTCAA	0.708											OREG0016213	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									.												.	.	0			.	4						.																																			68249487	SO:0001623	5_prime_UTR_variant	55236	.			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.-55->C	4.37:g.68566898_68566898dupG		1108	68249486	.	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Splice_Site	INS	ENST00000322244.5	37	CCDS3516.1																																																																																				0.708	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227	
DKK2	27123	broad.mit.edu	37	4	107845202	107845202	+	Missense_Mutation	SNP	C	C	T	rs539488952		TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr4:107845202C>T	ENST00000285311.3	-	4	1394	c.689G>A	c.(688-690)cGt>cAt	p.R230H	DKK2_ENST00000513208.1_Missense_Mutation_p.R130H|DKK2_ENST00000510463.1_Missense_Mutation_p.R184H	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	230	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.R230H(3)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ACAGTCGCAACGCTGGAAAAT	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		18840	0.001		0.0	False		,,,				2504	0.0				p.R230H												.	.	3	Substitution - Missense(3)	large_intestine(2)|prostate(1)	c.G689A	4						.						161.0	147.0	152.0					4																	107845202		2203	4300	6503	108064651	SO:0001583	missense	27123	exon4			AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.689G>A	4.37:g.107845202C>T	ENSP00000285311:p.Arg230His		108064651	NM_014421	A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897895	0.91962	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.57595	0.39;0.52;0.54	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	M	0.81341	2.54	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.77051	-0.2731	10	0.59425	D	0.04	-11.8314	19.6876	0.95986	0.0:1.0:0.0:0.0	.	230	Q9UBU2	DKK2_HUMAN	H	230;130;184	ENSP00000285311:R230H;ENSP00000421255:R130H;ENSP00000423797:R184H	ENSP00000285311:R230H	R	-	2	0	DKK2	108064651	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.487000	0.81328	2.657000	0.90304	0.585000	0.79938	CGT		0.488	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4		
UGT2A3	79799	broad.mit.edu	37	4	69796285	69796285	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr4:69796285C>G	ENST00000251566.4	-	5	1313	c.1283G>C	c.(1282-1284)aGa>aCa	p.R428T	UGT2A3_ENST00000420231.2_Missense_Mutation_p.R139T	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	428					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.R428T(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AATGACTGTTCTCAAAGCCCT	0.373																																					p.R428T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1283C	4						.						163.0	161.0	161.0					4																	69796285		2203	4300	6503	69830874	SO:0001583	missense	79799	exon5				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1283G>C	4.37:g.69796285C>G	ENSP00000251566:p.Arg428Thr		69830874	NM_024743	Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931661	0.34096	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.59638	0.25;0.25	1.98	-2.33	0.06724	.	0.196101	0.42172	D	0.000747	T	0.56848	0.2013	L	0.36672	1.1	0.09310	N	1	D	0.60575	0.988	D	0.65140	0.932	T	0.54357	-0.8306	10	0.87932	D	0	.	7.1611	0.25664	0.0:0.5242:0.0:0.4758	.	428	Q6UWM9	UD2A3_HUMAN	T	428;139	ENSP00000251566:R428T;ENSP00000440115:R139T	ENSP00000251566:R428T	R	-	2	0	UGT2A3	69830874	0.010000	0.17322	0.000000	0.03702	0.121000	0.20230	0.003000	0.13083	-0.655000	0.05387	0.484000	0.47621	AGA		0.373	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743	
FHDC1	85462	broad.mit.edu	37	4	153896343	153896343	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr4:153896343delT	ENST00000511601.1	+	12	2088	c.1900delT	c.(1900-1902)ttcfs	p.F634fs	FHDC1_ENST00000260008.3_Frame_Shift_Del_p.F634fs			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	634									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TGCCTCTGCCTTCCCCAGAGC	0.677																																					p.F634fs												.	.	0			c.1900delT	4						.						38.0	47.0	44.0					4																	153896343		2203	4299	6502	154115793	SO:0001589	frameshift_variant	85462	exon11			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1900delT	4.37:g.153896343delT	ENSP00000427567:p.Phe634fs		154115793	NM_033393		Frame_Shift_Del	DEL	ENST00000511601.1	37	CCDS34081.1																																																																																				0.677	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393	
TLR3	7098	broad.mit.edu	37	4	187004020	187004020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr4:187004020C>T	ENST00000296795.3	+	4	1284	c.1180C>T	c.(1180-1182)Cga>Tga	p.R394*	TLR3_ENST00000504367.1_Nonsense_Mutation_p.R117*	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	394					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.R394*(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TACAAGTTTGCGAACTTTGAC	0.328																																					p.R394X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1180T	4						.						58.0	56.0	57.0					4																	187004020		2203	4300	6503	187241014	SO:0001587	stop_gained	7098	exon4			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1180C>T	4.37:g.187004020C>T	ENSP00000296795:p.Arg394*		187241014	NM_003265	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Nonsense_Mutation	SNP	ENST00000296795.3	37	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917309	0.73098	.	.	ENSG00000164342	ENST00000296795;ENST00000513189;ENST00000542020;ENST00000504367	.	.	.	5.78	1.78	0.24846	.	0.494012	0.24162	N	0.040974	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0671	0.47982	0.4187:0.468:0.1134:0.0	.	.	.	.	X	394;330;394;117	.	ENSP00000296795:R394X	R	+	1	2	TLR3	187241014	0.164000	0.22935	0.115000	0.21578	0.113000	0.19764	-0.229000	0.09098	-0.013000	0.14199	-0.319000	0.08680	CGA		0.328	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4		
ADRA1B	147	broad.mit.edu	37	5	159398908	159398909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr5:159398908_159398909insC	ENST00000306675.3	+	2	1095_1096	c.972_973insC	c.(973-975)cccfs	p.P325fs		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	325					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)	p.D327fs*134(1)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	CCACCCTGAAGCCCCCCGACGC	0.589																																					p.K324fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.972_973insC	5						.			0,4230		0,0,2115						4.6	1.0			33	6,8140		0,6,4067	no	frameshift	ADRA1B	NM_000679.3		0,6,6182	A1A1,A1R,RR		0.0737,0.0,0.0485				6,12370				159331487	SO:0001589	frameshift_variant	147	exon2			L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.978dupC	5.37:g.159398914_159398914dupC	ENSP00000306662:p.Pro325fs		159331486	NM_000679	B0LPE1	Frame_Shift_Ins	INS	ENST00000306675.3	37	CCDS4347.1																																																																																				0.589	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1		
PCDHA6	56142	broad.mit.edu	37	5	140209675	140209675	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr5:140209675G>A	ENST00000529310.1	+	1	2113	c.1999G>A	c.(1999-2001)Gtg>Atg	p.V667M	PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	667	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V667M(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGTTCTGGTGTCGCTGGT	0.687																																					p.V667M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1999A	5						.						38.0	45.0	43.0					5																	140209675		2202	4296	6498	140189859	SO:0001583	missense	56142	exon1			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1999G>A	5.37:g.140209675G>A	ENSP00000433378:p.Val667Met		140189859	NM_018909	O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	g	8.929	0.962947	0.18583	.	.	ENSG00000081842	ENST00000529310	T	0.56611	0.45	3.76	-1.6	0.08426	Cadherin (4);Cadherin-like (1);	1.072860	0.07521	U	0.910543	T	0.70919	0.3279	M	0.93150	3.385	0.09310	N	1	D;D	0.61080	0.987;0.989	P;P	0.56216	0.778;0.794	T	0.61277	-0.7095	10	0.62326	D	0.03	.	7.148	0.25593	0.2394:0.4201:0.3405:0.0	.	667;667	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	M	667	ENSP00000433378:V667M	ENSP00000433378:V667M	V	+	1	0	PCDHA6	140189859	0.000000	0.05858	0.089000	0.20774	0.002000	0.02628	-0.322000	0.08007	-0.199000	0.10317	-0.702000	0.03669	GTG		0.687	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909	
PDGFRB	5159	broad.mit.edu	37	5	149498328	149498328	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr5:149498328C>G	ENST00000261799.4	-	21	3355	c.2886G>C	c.(2884-2886)ttG>ttC	p.L962F		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	962	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.L962F(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AACCTTCGCCCAACAGTCTCT	0.552			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																p.L962F			Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2886C	5						.						92.0	96.0	94.0					5																	149498328		2203	4300	6503	149478521	SO:0001583	missense	5159	exon21			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2886G>C	5.37:g.149498328C>G	ENSP00000261799:p.Leu962Phe		149478521	NM_002609	B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945172	0.73672	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.80738	-1.41	5.29	3.46	0.39613	Protein kinase, catalytic domain (1);	0.000000	0.40064	N	0.001181	D	0.84938	0.5583	L	0.41027	1.25	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.85403	0.1132	10	0.87932	D	0	.	14.1514	0.65387	0.2742:0.7257:0.0:0.0	.	962;962	A8KAM8;P09619	.;PGFRB_HUMAN	F	962;632	ENSP00000261799:L962F	ENSP00000261799:L962F	L	-	3	2	PDGFRB	149478521	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	1.188000	0.32102	0.574000	0.29417	0.561000	0.74099	TTG		0.552	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609	
ISL1	3670	broad.mit.edu	37	5	50685716	50685716	+	Nonsense_Mutation	SNP	C	C	T	rs199639357		TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr5:50685716C>T	ENST00000230658.7	+	4	1300	c.715C>T	c.(715-717)Cga>Tga	p.R239*	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Nonsense_Mutation_p.R239*	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	239					atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)	p.R239*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GGACAAGAAGCGAAGCATCAT	0.577																																					p.R239X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C715T	5						.						61.0	72.0	68.0					5																	50685716		2202	4299	6501	50721473	SO:0001587	stop_gained	3670	exon4			BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.715C>T	5.37:g.50685716C>T	ENSP00000230658:p.Arg239*		50721473	NM_002202	P20663|P47894	Nonsense_Mutation	SNP	ENST00000230658.7	37	CCDS43314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.37|18.37	3.609684|3.609684	0.66558|0.66558	.|.	.|.	ENSG00000016082|ENSG00000016082	ENST00000505475|ENST00000230658;ENST00000503187;ENST00000511384	.|.	.|.	.|.	5.63|5.63	4.75|4.75	0.60458|0.60458	.|.	.|0.128199	.|0.46758	.|D	.|0.000271	T|.	0.33933|.	0.0880|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35101|.	-0.9802|.	4|.	0.87932|0.02654	D|T	0|1	.|.	13.5867|13.5867	0.61935|0.61935	0.4003:0.5997:0.0:0.0|0.4003:0.5997:0.0:0.0	.|.	.|.	.|.	.|.	V|X	185|239	.|.	ENSP00000421737:A185V|ENSP00000230658:R239X	A|R	+|+	2|1	0|2	ISL1|ISL1	50721473|50721473	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.547000|0.547000	0.35210|0.35210	0.632000|0.632000	0.24583|0.24583	1.321000|1.321000	0.45227|0.45227	0.650000|0.650000	0.86243|0.86243	GCG|CGA		0.577	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202	
APC	324	broad.mit.edu	37	5	112154935	112154935	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr5:112154935delT	ENST00000457016.1	+	10	1586	c.1206delT	c.(1204-1206)cgtfs	p.R402fs	APC_ENST00000257430.4_Frame_Shift_Del_p.R402fs|APC_ENST00000508376.2_Frame_Shift_Del_p.R402fs			P25054	APC_HUMAN	adenomatous polyposis coli	402	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAGGCAGGCGTGAAATCCGAG	0.532		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.R384fs	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	0			c.1152delT	5						.						49.0	47.0	48.0					5																	112154935		2202	4300	6502	112182834	SO:0001589	frameshift_variant	324	exon8	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1206delT	5.37:g.112154935delT	ENSP00000413133:p.Arg402fs		112182834	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	CCDS4107.1																																																																																				0.532	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
NSD1	64324	broad.mit.edu	37	5	176709569	176709570	+	Missense_Mutation	DNP	TC	TC	GT	rs562617982		TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	TC	TC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr5:176709569_176709570TC>GT	ENST00000439151.2	+	19	6041_6042	c.5996_5997TC>GT	c.(5995-5997)cTC>cGT	p.L1999R	NSD1_ENST00000347982.4_Missense_Mutation_p.L1730R|NSD1_ENST00000354179.4_Missense_Mutation_p.L1730R|NSD1_ENST00000361032.4_Missense_Mutation_p.L1896R	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1999	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L1999>?(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTCTATATGCTCACCCTAGACA	0.376			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											.			Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	.	2	Complex(2)	large_intestine(2)	c.5996_5997GT	5	GRCh37	CI020900	NSD1	I		.																																			176642176	SO:0001583	missense	64324	exon19	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	Exception_encountered	5.37:g.176709569_176709570delinsGT	ENSP00000395929:p.Leu1999Arg		176642175	NM_022455	Q96PD8|Q96RN7	Missense_Mutation	DNP	ENST00000439151.2	37	CCDS4412.1																																																																																				0.376	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
MOXD1	26002	broad.mit.edu	37	6	132722446	132722447	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr6:132722446_132722447insCC	ENST00000367963.3	-	1	237_238	c.119_120insGG	c.(118-120)ggcfs	p.G40fs	MOXD1_ENST00000392401.3_Frame_Shift_Ins_p.G40fs	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	40	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.W41fs*59(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GCTGGCTCCAGCCCAGCCAGTA	0.738																																					p.G40fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.120_121insGG	6						.																																			132764140	SO:0001589	frameshift_variant	26002	exon1			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.118_119dupGG	6.37:g.132722447_132722448dupCC	ENSP00000356940:p.Gly40fs		132764139	NM_015529	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Frame_Shift_Ins	INS	ENST00000367963.3	37	CCDS5152.2																																																																																				0.738	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529	
PRSS16	10279	broad.mit.edu	37	6	27219568	27219569	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	-	-	-	-	-	-	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr6:27219568_27219569insG	ENST00000230582.3	+	8	772_773	c.757_758insG	c.(757-759)cggfs	p.R253fs	PRSS16_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	253					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGAAGTGGAGCGGCGGCTGCGC	0.698																																					p.R253fs	NSCLC(178;1118 2105 17078 23587 44429)											.	.	0			c.757_758insG	6						.																																			27327548	SO:0001589	frameshift_variant	10279	exon8			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.759dupG	6.37:g.27219570_27219570dupG	ENSP00000230582:p.Arg253fs		27327547	NM_005865	O75416	Frame_Shift_Ins	INS	ENST00000230582.3	37	CCDS4623.1																																																																																				0.698	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2		
MYO6	4646	broad.mit.edu	37	6	76602249	76602249	+	Silent	SNP	T	T	C			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr6:76602249T>C	ENST00000369977.3	+	28	3088	c.2949T>C	c.(2947-2949)gcT>gcC	p.A983A	MYO6_ENST00000369981.3_Silent_p.A983A|MYO6_ENST00000369975.1_Silent_p.A983A|MYO6_ENST00000369985.4_Silent_p.A983A	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	983	Glu-rich.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.A983A(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CTTGTCAGGCTGAAGTGGAGG	0.522																																					p.A983A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2949C	6						.						100.0	110.0	107.0					6																	76602249		2203	4300	6503	76658969	SO:0001819	synonymous_variant	4646	exon28			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2949T>C	6.37:g.76602249T>C			76658969	NM_004999	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Silent	SNP	ENST00000369977.3	37	CCDS34487.1																																																																																				0.522	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999	
GARS	2617	broad.mit.edu	37	7	30634660	30634661	+	Frame_Shift_Ins	INS	-	-	G	rs1049402	byFrequency	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr7:30634660_30634661insG	ENST00000389266.3	+	1	364_365	c.123_124insG	c.(124-126)cccfs	p.P42fs	AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000584199.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CGGCCTCCTGCCCCCCGATCTC	0.733																																					p.C41fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.123_124insG	7						.																																			30601186	SO:0001589	frameshift_variant	2617	exon1			AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	Exception_encountered	7.37:g.30634660_30634661insG	ENSP00000373918:p.Pro42fs		30601185	NM_002047	B3KQA2|B4DIA0|Q969Y1	Frame_Shift_Ins	INS	ENST00000389266.3	37	CCDS43564.1																																																																																				0.733	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047	
MACC1	346389	broad.mit.edu	37	7	20199540	20199540	+	Silent	SNP	G	G	A			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr7:20199540G>A	ENST00000400331.5	-	5	752	c.444C>T	c.(442-444)gaC>gaT	p.D148D	MACC1_ENST00000332878.4_Silent_p.D148D|MACC1_ENST00000589011.1_Silent_p.D148D	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	148					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D148D(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GTGCTGTGTCGTCTAAAATGT	0.418																																					p.D148D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C444T	7						.						82.0	76.0	78.0					7																	20199540		2203	4300	6503	20166065	SO:0001819	synonymous_variant	346389	exon5				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.444C>T	7.37:g.20199540G>A			20166065	NM_182762	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Silent	SNP	ENST00000400331.5	37	CCDS5369.1																																																																																				0.418	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762	
PON3	5446	broad.mit.edu	37	7	95001597	95001597	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr7:95001597G>C	ENST00000265627.5	-	4	265	c.255C>G	c.(253-255)atC>atG	p.I85M	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Missense_Mutation_p.I85M|PON3_ENST00000451904.1_Missense_Mutation_p.I85M	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	85					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)	p.I85M(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	CCATCAAGAAGATTTTTCCTG	0.363																																					p.I85M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C255G	7						.						146.0	138.0	141.0					7																	95001597		2203	4300	6503	94839533	SO:0001583	missense	5446	exon4			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.255C>G	7.37:g.95001597G>C	ENSP00000265627:p.Ile85Met		94839533	NM_000940	A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	ENST00000265627.5	37	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899586	0.52227	.	.	ENSG00000105852	ENST00000265627;ENST00000427422	T;T	0.57752	0.38;0.38	4.82	1.91	0.25777	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.63896	0.2550	M	0.75615	2.305	0.50813	D	0.999891	D;P	0.76494	0.999;0.909	D;P	0.66716	0.946;0.908	T	0.60835	-0.7184	10	0.56958	D	0.05	-14.8469	4.8038	0.13310	0.1756:0.0:0.3916:0.4328	.	133;85	B4E2I0;Q15166	.;PON3_HUMAN	M	85	ENSP00000265627:I85M;ENSP00000413276:I85M	ENSP00000265627:I85M	I	-	3	3	PON3	94839533	1.000000	0.71417	0.986000	0.45419	0.935000	0.57460	1.094000	0.30951	0.300000	0.22699	-0.263000	0.10527	ATC		0.363	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940	
CPSF1	29894	broad.mit.edu	37	8	145618788	145618789	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr8:145618788_145618789insG	ENST00000349769.3	-	37	4256_4257	c.4162_4163insC	c.(4162-4164)cgcfs	p.R1388fs	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'UTR	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1388					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.R1388fs*>57(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GAGGGTGCGGCGGTCCACGTGC	0.688																																					p.R1388fs	NSCLC(133;1088 1848 27708 34777 35269)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.4163_4164insC	8						.																																			145589597	SO:0001589	frameshift_variant	29894	exon37			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.4163dupC	8.37:g.145618790_145618790dupG	ENSP00000339353:p.Arg1388fs		145589596	NM_013291	Q96AF0	Frame_Shift_Ins	INS	ENST00000349769.3	37	CCDS34966.1																																																																																				0.688	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291	
FAM135B	51059	broad.mit.edu	37	8	139164992	139164992	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr8:139164992G>T	ENST00000395297.1	-	13	1896	c.1726C>A	c.(1726-1728)Cat>Aat	p.H576N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	576								p.H576N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTACTCTCATGCTGAGCATTG	0.493										HNSCC(54;0.14)																											p.H576N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1726A	8						.						131.0	125.0	127.0					8																	139164992		1895	4121	6016	139234174	SO:0001583	missense	51059	exon13			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1726C>A	8.37:g.139164992G>T	ENSP00000378710:p.His576Asn		139234174	NM_015912	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451890	0.26074	.	.	ENSG00000147724	ENST00000395297	T	0.14893	2.47	5.3	-1.19	0.09585	.	1.615380	0.02782	N	0.121030	T	0.16385	0.0394	L	0.57536	1.79	0.09310	N	1	P;P;B	0.37276	0.589;0.589;0.057	B;B;B	0.33454	0.164;0.164;0.023	T	0.24764	-1.0151	10	0.29301	T	0.29	0.2654	5.8063	0.18442	0.4575:0.0:0.4178:0.1246	.	576;576;576	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	N	576	ENSP00000378710:H576N	ENSP00000276737:H576N	H	-	1	0	FAM135B	139234174	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.199000	0.09491	-0.197000	0.10350	0.655000	0.94253	CAT		0.493	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
NUTM2F	54754	broad.mit.edu	37	9	97081229	97081229	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chr9:97081229delG	ENST00000253262.4	-	7	1809	c.1789delC	c.(1789-1791)cagfs	p.Q597fs	NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_Frame_Shift_Del_p.Q582fs	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	597								p.Q463fs*53(1)									CTGTGGTCCTGGGGAGGAGAG	0.642																																					p.Q597fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1789delC	9						.						28.0	25.0	26.0					9																	97081229		1932	4103	6035	96121050	SO:0001589	frameshift_variant	54754	exon7				CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1789delC	9.37:g.97081229delG	ENSP00000253262:p.Gln597fs		96121050	NM_017561	B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Frame_Shift_Del	DEL	ENST00000253262.4	37	CCDS47994.1																																																																																				0.642	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561	
ZXDA	7789	broad.mit.edu	37	X	57936232	57936233	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chrX:57936232_57936233insG	ENST00000358697.4	-	1	834_835	c.622_623insC	c.(622-624)caafs	p.Q208fs		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	208					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q208fs*12(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GAACCCAGCTTGGGGGGCGATC	0.738																																					p.Q208fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.623_624insC	X						.																																			57952958	SO:0001589	frameshift_variant	7789	exon1			L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.623dupC	X.37:g.57936238_57936238dupG	ENSP00000351530:p.Gln208fs		57952957	NM_007156	Q9UJP7	Frame_Shift_Ins	INS	ENST00000358697.4	37	CCDS14376.1																																																																																				0.738	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156	
GPR64	10149	broad.mit.edu	37	X	19024377	19024377	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chrX:19024377A>T	ENST00000379869.3	-	21	1859	c.1696T>A	c.(1696-1698)Tta>Ata	p.L566I	GPR64_ENST00000360279.4_Missense_Mutation_p.L544I|GPR64_ENST00000379876.1_Missense_Mutation_p.L542I|GPR64_ENST00000354791.3_Missense_Mutation_p.L550I|GPR64_ENST00000340581.3_Missense_Mutation_p.L447I|GPR64_ENST00000379873.2_Missense_Mutation_p.L566I|GPR64_ENST00000379878.3_Missense_Mutation_p.L550I|GPR64_ENST00000356606.4_Missense_Mutation_p.L552I|GPR64_ENST00000357991.3_Missense_Mutation_p.L563I|GPR64_ENST00000357544.3_Missense_Mutation_p.L536I	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	566					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.L563I(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CTCACTGTTAACTCATCCTGT	0.338																																					p.L536I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1606A	X						.						177.0	170.0	173.0					X																	19024377		2203	4300	6503	18934298	SO:0001583	missense	10149	exon19			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1696T>A	X.37:g.19024377A>T	ENSP00000369198:p.Leu566Ile		18934298	NM_001184837	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.636580	0.67130	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.37584	1.37;1.5;1.49;1.49;1.49;1.54;1.49;1.54;1.53;1.19	5.6	3.17	0.36434	GPS domain (1);	0.962500	0.08557	N	0.928006	T	0.43389	0.1245	L	0.58101	1.795	0.27668	N	0.946849	P;B;P;B;B;P;P;P;P;B;P	0.43169	0.8;0.23;0.552;0.257;0.257;0.696;0.552;0.696;0.552;0.445;0.741	P;B;B;B;B;B;B;B;B;B;B	0.50270	0.636;0.098;0.287;0.098;0.098;0.287;0.287;0.287;0.287;0.158;0.41	T	0.24368	-1.0162	10	0.22706	T	0.39	.	6.7736	0.23607	0.6408:0.2846:0.0746:0.0	.	447;528;536;542;550;566;544;552;563;566;550	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	I	566;550;550;542;536;566;544;563;552;447	ENSP00000369202:L566I;ENSP00000369207:L550I;ENSP00000346845:L550I;ENSP00000369205:L542I;ENSP00000350152:L536I;ENSP00000369198:L566I;ENSP00000353421:L544I;ENSP00000350680:L563I;ENSP00000349015:L552I;ENSP00000344972:L447I	ENSP00000344972:L447I	L	-	1	2	GPR64	18934298	0.998000	0.40836	0.713000	0.30519	0.864000	0.49448	3.333000	0.52090	0.258000	0.21686	0.430000	0.28490	TTA		0.338	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2		
DMD	1756	broad.mit.edu	37	X	32404543	32404543	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chrX:32404543C>A	ENST00000357033.4	-	33	4764	c.4558G>T	c.(4558-4560)Gaa>Taa	p.E1520*	DMD_ENST00000378677.2_Nonsense_Mutation_p.E1516*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1520	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E1515*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCACCATTTCCACTTCAGAC	0.303																																					p.E179X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G535T	X						.						145.0	122.0	130.0					X																	32404543		2202	4299	6501	32314464	SO:0001587	stop_gained	1756	exon5			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4558G>T	X.37:g.32404543C>A	ENSP00000354923:p.Glu1520*		32314464	NM_004011	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	46	12.722279	0.99691	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	.	.	.	5.47	5.47	0.80525	.	0.000000	0.37393	U	0.002103	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.4171	0.90574	0.0:1.0:0.0:0.0	.	.	.	.	X	1512;179;176;1516;1520;1520;1397	.	ENSP00000354923:E1520X	E	-	1	0	DMD	32314464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.289000	0.77006	0.600000	0.82982	GAA		0.303	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
WNK3	65267	broad.mit.edu	37	X	54278061	54278061	+	Silent	SNP	A	A	G			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chrX:54278061A>G	ENST00000375159.2	-	13	2426	c.2427T>C	c.(2425-2427)gcT>gcC	p.A809A	WNK3_ENST00000375169.3_Silent_p.A809A|WNK3_ENST00000354646.2_Silent_p.A809A			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	809					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A809A(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GACCTACAATAGCTCTCAATT	0.408																																					p.A809A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2427C	X						.						86.0	81.0	83.0					X																	54278061		2202	4299	6501	54294786	SO:0001819	synonymous_variant	65267	exon14			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2427T>C	X.37:g.54278061A>G			54294786	NM_001002838	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	ENST00000375159.2	37	CCDS14357.1																																																																																				0.408	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922	
PABPC5	140886	broad.mit.edu	37	X	90690742	90690742	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chrX:90690742C>T	ENST00000312600.3	+	2	380	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	56	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R56C(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TCCGGTGACCCGCAGCCCCCT	0.532																																					p.R56C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C166T	X						.						36.0	30.0	32.0					X																	90690742		2203	4299	6502	90577398	SO:0001583	missense	140886	exon2			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.166C>T	X.37:g.90690742C>T	ENSP00000308012:p.Arg56Cys		90577398	NM_080832	A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.353325	0.61293	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.06294	3.32	4.43	3.54	0.40534	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.104646	0.64402	D	0.000004	T	0.22475	0.0542	M	0.92169	3.28	0.80722	D	1	D	0.71674	0.998	P	0.52454	0.699	T	0.17715	-1.0360	10	0.87932	D	0	.	11.3295	0.49468	0.0:0.8189:0.1811:0.0	.	56	Q96DU9	PABP5_HUMAN	C	56;24	ENSP00000308012:R56C	ENSP00000308012:R56C	R	+	1	0	PABPC5	90577398	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.528000	0.67129	1.171000	0.42768	0.600000	0.82982	CGC		0.532	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832	
CNGA2	1260	broad.mit.edu	37	X	150912869	150912869	+	Missense_Mutation	SNP	C	C	T	rs149002674		TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3971-01A-01W-0995-10	TCGA-AA-3971-10A-01W-0999-10	g.chrX:150912869C>T	ENST00000329903.4	+	6	1927	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	632					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.R632C(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCAAGCAGCGCATCACAGT	0.547																																					p.R632C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1894T	X						.	C	CYS/ARG	0,3835		0,0,1632,571	108.0	91.0	97.0		1894	3.5	1.0	X	dbSNP_134	97	2,6726		0,2,2426,1872	no	missense	CNGA2	NM_005140.1	180	0,2,4058,2443	TT,TC,CC,C		0.0297,0.0,0.0189	probably-damaging	632/665	150912869	2,10561	2203	4300	6503	150663525	SO:0001583	missense	1260	exon7			S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1894C>T	X.37:g.150912869C>T	ENSP00000328478:p.Arg632Cys		150663525	NM_005140	A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936422	0.34189	0.0	2.97E-4	ENSG00000183862	ENST00000329903	D	0.98455	-4.94	5.47	3.54	0.40534	.	0.000000	0.85682	D	0.000000	D	0.98738	0.9576	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99215	1.0877	10	0.87932	D	0	.	10.0454	0.42184	0.5048:0.4952:0.0:0.0	.	632	Q16280	CNGA2_HUMAN	C	632	ENSP00000328478:R632C	ENSP00000328478:R632C	R	+	1	0	CNGA2	150663525	1.000000	0.71417	0.995000	0.50966	0.497000	0.33675	1.622000	0.36997	1.018000	0.39521	0.600000	0.82982	CGC		0.547	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140	
