#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FAM131C	348487	broad.mit.edu	37	1	16385178	16385178	+	Silent	SNP	G	G	A	rs80297394	byFrequency	TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr1:16385178G>A	ENST00000375662.4	-	7	780	c.597C>T	c.(595-597)ccC>ccT	p.P199P	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	199								p.P199P(2)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGGCCGCTGGGAAGGCTGT	0.647																																						uc001axz.3																			2	Substitution - coding silent(2)		prostate(1)|lung(1)		0						c.(595-597)CCC>CCT		hypothetical protein LOC348487							22.0	21.0	22.0					1																	16385178		2007	4137	6144	SO:0001819	synonymous_variant	348487							g.chr1:16385178G>A		CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 117"""	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.597C>T	1.37:g.16385178G>A						FAM131C_uc010obz.1_Intron	p.P199P	NM_182623	NP_872429	Q96AQ9	F131C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)	7	787	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	199					Q5T5Q5|Q8N3X3|Q8N9P9	Silent	SNP	ENST00000375662.4	37	c.597C>T	CCDS41270.1																																																																																				PASS	0.647	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623		3	7	3	7	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39823488	39823488	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr1:39823488G>A	ENST00000372915.3	+	44	11968	c.11881G>A	c.(11881-11883)Gaa>Aaa	p.E3961K	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.E3993K|MACF1_ENST00000539005.1_Missense_Mutation_p.E1894K|MACF1_ENST00000361689.2_Missense_Mutation_p.E1894K|MACF1_ENST00000289893.4_Missense_Mutation_p.E2396K|MACF1_ENST00000545844.1_Missense_Mutation_p.E1894K|MACF1_ENST00000317713.7_Missense_Mutation_p.E1894K|MACF1_ENST00000564288.1_Missense_Mutation_p.E3956K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3961					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.E1894K(1)|p.E2396K(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAAGGCAAAGAACCATCAGA	0.428																																						uc010oiu.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(7186-7188)GAA>AAA		microfilament and actin filament cross-linker							80.0	78.0	79.0					1																	39823488		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39823488G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.11881G>A	1.37:g.39823488G>A	ENSP00000362006:p.Glu3961Lys					MACF1_uc010ois.1_Missense_Mutation_p.E1894K|MACF1_uc001cda.1_Missense_Mutation_p.E1802K|MACF1_uc001cdc.1_Missense_Mutation_p.E981K|MACF1_uc001cdb.1_Missense_Mutation_p.E981K	p.E2396K	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		9	7317	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3961					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.7186G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.58|19.58	3.854863|3.854863	0.71719|0.71719	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.64085|.	-0.04;0.01;-0.04;-0.08;0.13;1.08|.	6.07|6.07	5.14|5.14	0.70334|0.70334	.|.	0.280258|.	0.30781|.	N|.	0.008891|.	T|T	0.70037|0.70037	0.3178|0.3178	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	D;P;B;B|.	0.55605|.	0.972;0.564;0.214;0.328|.	P;B;B;B|.	0.49047|.	0.599;0.352;0.199;0.053|.	T|T	0.68352|0.68352	-0.5431|-0.5431	10|5	0.51188|.	T|.	0.08|.	.|.	16.9348|16.9348	0.86200|0.86200	0.0:0.128:0.872:0.0|0.0:0.128:0.872:0.0	.|.	3961;1894;1894;1859|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	K|K	1894;3961;1894;1894;1894;2396|1027	ENSP00000439537:E1894K;ENSP00000362006:E3961K;ENSP00000354573:E1894K;ENSP00000313438:E1894K;ENSP00000444364:E1894K;ENSP00000289893:E2396K|.	ENSP00000289893:E2396K|.	E|R	+|+	1|2	0|0	MACF1|MACF1	39596075|39596075	0.809000|0.809000	0.29036|0.29036	0.764000|0.764000	0.31436|0.31436	0.975000|0.975000	0.68041|0.68041	2.916000|2.916000	0.48813|0.48813	1.529000|1.529000	0.49120|0.49120	0.655000|0.655000	0.94253|0.94253	GAA|AGA		PASS	0.428	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		11	82	11	82	---	---	---	---
ASB17	127247	broad.mit.edu	37	1	76397634	76397634	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr1:76397634G>A	ENST00000284142.6	-	1	482	c.343C>T	c.(343-345)Ctc>Ttc	p.L115F		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	115					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.L115F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						GTCTTCTTGAGAAGCAATTCC	0.338																																						uc001dhe.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(343-345)CTC>TTC		ankyrin repeat and SOCS box-containing 17							63.0	62.0	63.0					1																	76397634		2203	4299	6502	SO:0001583	missense	127247				intracellular signal transduction			g.chr1:76397634G>A	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.343C>T	1.37:g.76397634G>A	ENSP00000284142:p.Leu115Phe					ASB17_uc001dhf.1_RNA	p.L115F	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN			1	483	-			115					B1APB8|Q8N0X5	Missense_Mutation	SNP	ENST00000284142.6	37	c.343C>T	CCDS671.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935909	0.73442	.	.	ENSG00000154007	ENST00000284142	T	0.76186	-1.0	5.97	5.97	0.96955	Ankyrin repeat-containing domain (1);	0.000000	0.46145	D	0.000304	T	0.74779	0.3761	L	0.27053	0.805	0.40848	D	0.983724	D	0.76494	0.999	D	0.80764	0.994	T	0.78623	-0.2132	10	0.87932	D	0	.	15.9063	0.79433	0.0:0.0:1.0:0.0	.	115	Q8WXJ9	ASB17_HUMAN	F	115	ENSP00000284142:L115F	ENSP00000284142:L115F	L	-	1	0	ASB17	76170222	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.079000	0.64431	2.831000	0.97527	0.655000	0.94253	CTC		PASS	0.338	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		27	71	27	71	---	---	---	---
PLEKHO1	51177	broad.mit.edu	37	1	150131220	150131220	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr1:150131220G>T	ENST00000369124.4	+	6	1010	c.732G>T	c.(730-732)tgG>tgT	p.W244C	PLEKHO1_ENST00000025469.6_Missense_Mutation_p.W210C|PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_Missense_Mutation_p.W61C	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	244	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.W244C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCGACCTTGGGAAAAAACAG	0.637																																						uc001ett.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(730-732)TGG>TGT		pleckstrin homology domain containing, family O							37.0	43.0	41.0					1																	150131220		2203	4300	6503	SO:0001583	missense	51177					cytoplasm|nucleus|plasma membrane		g.chr1:150131220G>T	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.732G>T	1.37:g.150131220G>T	ENSP00000358120:p.Trp244Cys					PLEKHO1_uc001etr.2_Missense_Mutation_p.W72C|PLEKHO1_uc001ets.2_Missense_Mutation_p.W61C|PLEKHO1_uc001etu.2_Missense_Mutation_p.W72C	p.W244C	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	1010	+	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		244			Interaction with ATM, CKIP, IFP35 and NMI.		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Missense_Mutation	SNP	ENST00000369124.4	37	c.732G>T	CCDS945.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807102	0.50421	.	.	ENSG00000023902	ENST00000369126;ENST00000025469;ENST00000369124;ENST00000441340	T;T	0.50001	0.76;0.83	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	M	0.62723	1.935	0.80722	D	1	B	0.22683	0.073	B	0.21151	0.033	T	0.18777	-1.0326	10	0.37606	T	0.19	-19.5966	17.4143	0.87495	0.0:0.0:1.0:0.0	.	244	Q53GL0	PKHO1_HUMAN	C	61;210;244;124	ENSP00000025469:W210C;ENSP00000358120:W244C	ENSP00000025469:W210C	W	+	3	0	PLEKHO1	148397844	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	6.190000	0.72057	2.576000	0.86940	0.655000	0.94253	TGG		PASS	0.637	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274		16	93	16	93	---	---	---	---
SHC1	6464	broad.mit.edu	37	1	154942792	154942792	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr1:154942792C>T	ENST00000368445.5	-	1	425	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000448116.2_Missense_Mutation_p.A71T	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	71					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.A71T(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCGGGTTGGCCAGCCTCAGG	0.662																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	uc001ffv.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(211-213)GCC>ACC		SHC-transforming protein 1 isoform 1							21.0	24.0	23.0					1																	154942792		2199	4291	6490	SO:0001583	missense	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154942792C>T	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.211G>A	1.37:g.154942792C>T	ENSP00000357430:p.Ala71Thr					SHC1_uc001ffz.1_5'Flank|SHC1_uc001ffw.2_Missense_Mutation_p.A71T|SHC1_uc001ffx.2_Intron|SHC1_uc001ffy.2_Intron	p.A71T	NM_183001	NP_892113	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	432	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		71					B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.211G>A	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742788	0.49151	.	.	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368443	T;T	0.54479	0.57;0.57	4.27	3.33	0.38152	.	0.072050	0.56097	D	0.000024	T	0.31949	0.0813	L	0.59436	1.845	0.80722	D	1	P;B	0.39424	0.673;0.267	B;B	0.36464	0.225;0.115	T	0.27400	-1.0075	10	0.54805	T	0.06	.	10.1824	0.42977	0.4843:0.5157:0.0:0.0	.	71;71	P29353-6;P29353	.;SHC1_HUMAN	T	71;71;7	ENSP00000357430:A71T;ENSP00000401303:A71T	ENSP00000357428:A7T	A	-	1	0	SHC1	153209416	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	2.573000	0.46007	1.102000	0.41551	0.555000	0.69702	GCC		PASS	0.662	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		3	58	3	58	---	---	---	---
CD1E	913	broad.mit.edu	37	1	158325820	158325820	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr1:158325820G>T	ENST00000368167.3	+	4	1068	c.829G>T	c.(829-831)Gct>Tct	p.A277S	CD1E_ENST00000368164.3_Intron|CD1E_ENST00000452291.2_Missense_Mutation_p.A88S|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.A275S|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.A187S|CD1E_ENST00000368156.1_Missense_Mutation_p.A187S|CD1E_ENST00000368166.3_Missense_Mutation_p.A88S|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000444681.2_Missense_Mutation_p.A178S|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.A277S|CD1E_ENST00000368155.3_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	277	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)	p.A277S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGATGTGGCGGCTGGGGAGGC	0.612																																						uc001fse.2																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(829-831)GCT>TCT		CD1E antigen isoform a precursor							83.0	85.0	84.0					1																	158325820		2203	4300	6503	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325820G>T	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.829G>T	1.37:g.158325820G>T	ENSP00000357149:p.Ala277Ser					CD1E_uc010pid.1_Missense_Mutation_p.A275S|CD1E_uc010pie.1_Missense_Mutation_p.A178S|CD1E_uc010pif.1_Missense_Mutation_p.A88S|CD1E_uc001fsd.2_Intron|CD1E_uc001fsk.2_Missense_Mutation_p.A187S|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Missense_Mutation_p.A88S|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.A277S|CD1E_uc001fry.2_Intron|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Missense_Mutation_p.A88S|CD1E_uc001fsi.2_Intron|CD1E_uc009wsv.2_Missense_Mutation_p.A178S|CD1E_uc001frz.2_Missense_Mutation_p.A187S|CD1E_uc009wsw.2_Missense_Mutation_p.A35S	p.A277S	NM_030893	NP_112155	P15812	CD1E_HUMAN			4	1068	+	all_hematologic(112;0.0378)		277			Ig-like.		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.829G>T	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	G	4.370	0.068226	0.08436	.	.	ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368160;ENST00000368156	T;T;T;T;T;T;T;T	0.02863	4.13;4.13;4.13;4.13;4.13;4.13;4.13;4.13	4.28	-0.155	0.13395	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.794285	0.10774	N	0.635696	T	0.01189	0.0039	L	0.33293	1	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.23650	0.013;0.089;0.033;0.004;0.0;0.001;0.0;0.002;0.004;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B	0.40659	0.321;0.336;0.253;0.111;0.07;0.015;0.007;0.061;0.102;0.011;0.006	T	0.50608	-0.8808	10	0.41790	T	0.15	-0.2044	3.3141	0.07027	0.3394:0.0:0.4836:0.177	.	88;178;275;277;178;187;88;277;277;88;187	B4E057;B4E042;E7ET31;A2RRL5;E7EP01;P15812-5;P15812-9;P15812-2;P15812;P15812-8;P15812-6	.;.;.;.;.;.;.;.;CD1E_HUMAN;.;.	S	275;178;277;88;187;88;277;187	ENSP00000401957:A275S;ENSP00000402906:A178S;ENSP00000357149:A277S;ENSP00000416228:A88S;ENSP00000357147:A187S;ENSP00000357148:A88S;ENSP00000357142:A277S;ENSP00000357138:A187S	ENSP00000357138:A187S	A	+	1	0	CD1E	156592444	0.001000	0.12720	0.000000	0.03702	0.192000	0.23643	0.455000	0.21843	-0.202000	0.10268	-1.051000	0.02340	GCT		PASS	0.612	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		18	86	18	86	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197069639	197069639	+	Silent	SNP	G	G	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr1:197069639G>A	ENST00000367409.4	-	18	8998	c.8742C>T	c.(8740-8742)atC>atT	p.I2914I	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2914	IQ 33. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.I2914I(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTGAATAATGATAACACTGC	0.294																																						uc001gtu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(8740-8742)ATC>ATT		asp (abnormal spindle)-like, microcephaly							59.0	61.0	60.0					1																	197069639		2203	4296	6499	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197069639G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8742C>T	1.37:g.197069639G>A						ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Silent_p.I762I	p.I2914I	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	8999	-			2914			IQ 33.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.8742C>T	CCDS1389.1																																																																																				PASS	0.294	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		10	129	10	129	---	---	---	---
SYT2	127833	broad.mit.edu	37	1	202574852	202574852	+	Missense_Mutation	SNP	T	T	G	rs75160100		TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr1:202574852T>G	ENST00000367267.1	-	2	241	c.49A>C	c.(49-51)Acc>Ccc	p.T17P	RP11-569A11.1_ENST00000428573.1_RNA|SYT2_ENST00000367268.4_Missense_Mutation_p.T17P	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	17					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.T17P(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GCGGTGGTGGTGGCAGGAGCC	0.577																																						uc001gye.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(49-51)ACC>CCC		synaptotagmin II	Botulinum Toxin Type B(DB00042)						38.0	44.0	42.0					1																	202574852		2203	4300	6503	SO:0001583	missense	127833				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:202574852T>G	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.49A>C	1.37:g.202574852T>G	ENSP00000356236:p.Thr17Pro					SYT2_uc010pqb.1_Missense_Mutation_p.T17P|SYT2_uc009xaf.2_Intron	p.T17P	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.169)		2	242	-			17			Vesicular (Potential).		Q496K5|Q8NBE5	Missense_Mutation	SNP	ENST00000367267.1	37	c.49A>C	CCDS1427.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.129717	0.37630	.	.	ENSG00000143858	ENST00000367268;ENST00000367267	T;T	0.61392	0.11;0.11	5.52	3.18	0.36537	.	0.427894	0.25011	N	0.033833	T	0.39708	0.1088	L	0.38175	1.15	0.35527	D	0.801885	B	0.22604	0.072	B	0.15484	0.013	T	0.35822	-0.9773	10	0.27082	T	0.32	.	4.1814	0.10378	0.0:0.4039:0.0:0.5961	.	17	Q8N9I0	SYT2_HUMAN	P	17	ENSP00000356237:T17P;ENSP00000356236:T17P	ENSP00000356236:T17P	T	-	1	0	SYT2	200841475	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.045000	0.41250	0.945000	0.37605	0.443000	0.29094	ACC		PASS	0.577	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		8	37	8	37	---	---	---	---
CHI3L1	1116	broad.mit.edu	37	1	203152863	203152863	+	Missense_Mutation	SNP	G	G	A	rs372451627		TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr1:203152863G>A	ENST00000255409.3	-	5	496	c.371C>T	c.(370-372)cCg>cTg	p.P124L		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	124					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.P124L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CAGAAATGGCGGTACTGACTT	0.522																																						uc001gzi.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(370-372)CCG>CTG		chitinase 3-like 1 precursor		G	LEU/PRO	0,4406		0,0,2203	133.0	107.0	116.0		371	5.7	0.1	1		116	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHI3L1	NM_001276.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	124/384	203152863	1,13005	2203	4300	6503	SO:0001583	missense	1116				chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding	g.chr1:203152863G>A	BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.371C>T	1.37:g.203152863G>A	ENSP00000255409:p.Pro124Leu					FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzk.1_5'Flank|CHI3L1_uc001gzj.2_Missense_Mutation_p.P124L	p.P124L	NM_001276	NP_001267	P36222	CH3L1_HUMAN			5	542	-			124					B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	ENST00000255409.3	37	c.371C>T	CCDS1435.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489102	0.26686	0.0	1.16E-4	ENSG00000133048	ENST00000255409	T	0.04862	3.54	5.69	5.69	0.88448	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.767853	0.11819	N	0.526430	T	0.04588	0.0125	N	0.00214	-1.84	0.20074	N	0.999934	D	0.71674	0.998	D	0.64595	0.927	T	0.54892	-0.8225	10	0.51188	T	0.08	-3.1778	10.6942	0.45888	0.0861:0.0:0.9139:0.0	.	124	P36222	CH3L1_HUMAN	L	124	ENSP00000255409:P124L	ENSP00000255409:P124L	P	-	2	0	CHI3L1	201419486	0.896000	0.30565	0.053000	0.19242	0.149000	0.21700	5.563000	0.67352	2.664000	0.90586	0.655000	0.94253	CCG		PASS	0.522	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100265.1	NM_001276		30	79	30	79	---	---	---	---
KLF11	8462	broad.mit.edu	37	2	10192505	10192505	+	Silent	SNP	G	G	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr2:10192505G>T	ENST00000305883.1	+	4	1572	c.1410G>T	c.(1408-1410)acG>acT	p.T470T	KLF11_ENST00000540845.1_Silent_p.T453T|KLF11_ENST00000535335.1_Silent_p.T453T|RP11-254F7.3_ENST00000607181.1_RNA	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	470					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.T470T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		ACCACCTGACGAAGCATGCCC	0.607																																					Melanoma(56;431 1507 23687 50789)	uc002raf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1408-1410)ACG>ACT		Kruppel-like factor 11							85.0	79.0	81.0					2																	10192505		2203	4300	6503	SO:0001819	synonymous_variant	8462				apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr2:10192505G>T	AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11811	protein-coding gene	gene with protein product		603301	"""TGFB inducible early growth response 2"""	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.1410G>T	2.37:g.10192505G>T						KLF11_uc010yjc.1_Silent_p.T453T	p.T470T	NM_003597	NP_003588	O14901	KLF11_HUMAN		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	4	1572	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		470			C2H2-type 3.		B4DZE7|Q9EPF4	Silent	SNP	ENST00000305883.1	37	c.1410G>T	CCDS1668.1																																																																																				PASS	0.607	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3	NM_003597		27	99	27	99	---	---	---	---
PLB1	151056	broad.mit.edu	37	2	28802550	28802550	+	Silent	SNP	C	C	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr2:28802550C>T	ENST00000327757.5	+	23	1586	c.1542C>T	c.(1540-1542)gaC>gaT	p.D514D	PLB1_ENST00000329020.6_Silent_p.D202D|PLB1_ENST00000422425.2_Silent_p.D525D	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	514	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.D514D(1)|p.D525D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GCGGCAATGACCTCTGTGATT	0.473																																						uc002rmb.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(1540-1542)GAC>GAT		phospholipase B1 precursor							139.0	126.0	131.0					2																	28802550		2203	4300	6503	SO:0001819	synonymous_variant	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28802550C>T		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.1542C>T	2.37:g.28802550C>T						PLB1_uc010ezj.1_Silent_p.D525D|PLB1_uc002rmc.2_Silent_p.D202D|PLB1_uc002rmd.1_Silent_p.D24D	p.D514D	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			23	1542	+	Acute lymphoblastic leukemia(172;0.155)		514			4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential).		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	ENST00000327757.5	37	c.1542C>T	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	C	9.235	1.036821	0.19669	.	.	ENSG00000163803	ENST00000404858	.	.	.	5.58	0.522	0.17053	.	.	.	.	.	T	0.54481	0.1861	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46596	-0.9180	4	.	.	.	-38.3794	7.748	0.28879	0.0:0.5452:0.0:0.4548	.	.	.	.	I	524	.	.	T	+	2	0	PLB1	28656054	0.988000	0.35896	0.999000	0.59377	0.936000	0.57629	0.274000	0.18680	0.273000	0.22049	0.561000	0.74099	ACC		PASS	0.473	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			52	163	52	163	---	---	---	---
EPAS1	2034	broad.mit.edu	37	2	46597015	46597015	+	Missense_Mutation	SNP	G	G	C	rs551232356		TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr2:46597015G>C	ENST00000263734.3	+	7	1339	c.829G>C	c.(829-831)Gcc>Ccc	p.A277P		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	277	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)	p.A277P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TGGCCGCTCAGCCTATGAATT	0.478																																						uc002ruv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(829-831)GCC>CCC		endothelial PAS domain protein 1							59.0	52.0	54.0					2																	46597015		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46597015G>C	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.829G>C	2.37:g.46597015G>C	ENSP00000263734:p.Ala277Pro						p.A277P	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		7	1317	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	277			PAS 2.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.829G>C	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	35	5.473510	0.96274	.	.	ENSG00000116016	ENST00000263734	T	0.22945	1.93	5.65	5.65	0.86999	PAS fold-3 (1);PAS (3);	0.053283	0.85682	D	0.000000	T	0.38957	0.1060	N	0.17838	0.53	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	T	0.34054	-0.9844	10	0.87932	D	0	.	19.7244	0.96157	0.0:0.0:1.0:0.0	.	277	Q99814	EPAS1_HUMAN	P	277	ENSP00000263734:A277P	ENSP00000263734:A277P	A	+	1	0	EPAS1	46450519	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.774000	0.75012	2.659000	0.90383	0.655000	0.94253	GCC		PASS	0.478	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		23	67	23	67	---	---	---	---
DCTN1	1639	broad.mit.edu	37	2	74594825	74594825	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr2:74594825G>C	ENST00000361874.3	-	18	2499	c.2182C>G	c.(2182-2184)Cag>Gag	p.Q728E	DCTN1_ENST00000409240.1_Missense_Mutation_p.Q691E|DCTN1_ENST00000409868.1_Missense_Mutation_p.Q711E|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000407639.2_Missense_Mutation_p.Q594E|DCTN1_ENST00000409438.1_Missense_Mutation_p.Q594E|DCTN1_ENST00000409567.3_Missense_Mutation_p.Q708E|DCTN1_ENST00000394003.3_Missense_Mutation_p.Q721E	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	728					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.Q728E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCCCACACCTGATAGTACTTG	0.502																																						uc002skx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(2182-2184)CAG>GAG		dynactin 1 isoform 1							71.0	64.0	67.0					2																	74594825		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74594825G>C		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2182C>G	2.37:g.74594825G>C	ENSP00000354791:p.Gln728Glu					DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.Q594E|DCTN1_uc002sku.2_Missense_Mutation_p.Q594E|DCTN1_uc002skw.1_Missense_Mutation_p.Q704E|DCTN1_uc010ffd.2_Missense_Mutation_p.Q708E|DCTN1_uc002sky.2_Missense_Mutation_p.Q691E	p.Q728E	NM_004082	NP_004073	Q14203	DCTN1_HUMAN			18	2493	-			728					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.2182C>G	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.216205	0.58452	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	D;D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	5.55	5.55	0.83447	.	0.000000	0.41097	D	0.000945	D	0.86896	0.6043	M	0.61703	1.905	0.80722	D	1	P;B;D;B;B;P	0.53885	0.515;0.049;0.963;0.071;0.066;0.954	B;B;D;B;B;D	0.68621	0.194;0.099;0.959;0.055;0.025;0.932	T	0.82090	-0.0629	10	0.10377	T	0.69	-9.8486	18.2639	0.90046	0.0:0.0:1.0:0.0	.	708;691;728;721;594;594	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	E	728;721;711;594;594;691;711;708	ENSP00000354791:Q728E;ENSP00000377571:Q721E;ENSP00000384844:Q594E;ENSP00000387270:Q594E;ENSP00000386406:Q691E;ENSP00000387327:Q711E;ENSP00000386843:Q708E	ENSP00000354791:Q728E	Q	-	1	0	DCTN1	74448333	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.712000	0.98738	2.601000	0.87937	0.561000	0.74099	CAG		PASS	0.502	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		26	75	26	75	---	---	---	---
MAP4K4	9448	broad.mit.edu	37	2	102481430	102481430	+	Silent	SNP	C	C	G			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr2:102481430C>G	ENST00000347699.4	+	17	1905	c.1905C>G	c.(1903-1905)tcC>tcG	p.S635S	MAP4K4_ENST00000456652.1_Silent_p.S434S|MAP4K4_ENST00000324219.4_Silent_p.S712S|MAP4K4_ENST00000413150.2_Silent_p.S550S|MAP4K4_ENST00000350198.4_Silent_p.S550S|MAP4K4_ENST00000302217.5_Silent_p.S434S|MAP4K4_ENST00000350878.4_Silent_p.S607S|MAP4K4_ENST00000425019.1_Silent_p.S604S	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	635					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.S712S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTGTTCTGTCCCGTCGAGATT	0.448																																						uc002tbg.2																			1	Substitution - coding silent(1)		lung(1)	stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1903-1905)TCC>TCG		mitogen-activated protein kinase kinase kinase							40.0	36.0	37.0					2																	102481430		1844	4092	5936	SO:0001819	synonymous_variant	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102481430C>G	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.1905C>G	2.37:g.102481430C>G						MAP4K4_uc002tbc.2_Silent_p.S712S|MAP4K4_uc002tbd.2_Silent_p.S604S|MAP4K4_uc002tbe.2_Silent_p.S550S|MAP4K4_uc002tbf.2_Silent_p.S604S|MAP4K4_uc010yvy.1_Silent_p.S627S|MAP4K4_uc002tbh.2_Silent_p.S550S|MAP4K4_uc002tbi.2_Silent_p.S434S|MAP4K4_uc010yvz.1_Silent_p.S607S|MAP4K4_uc002tbk.2_Silent_p.S90S|MAP4K4_uc002tbl.2_5'UTR	p.S635S	NM_145687	NP_663720	O95819	M4K4_HUMAN			17	1960	+			635					O75172|Q9NST7	Silent	SNP	ENST00000347699.4	37	c.1905C>G	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	C	7.873	0.728625	0.15507	.	.	ENSG00000071054	ENST00000421882	.	.	.	5.39	4.32	0.51571	.	.	.	.	.	T	0.57388	0.2050	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54296	-0.8315	4	.	.	.	.	7.7126	0.28686	0.1504:0.7145:0.0:0.1351	.	.	.	.	A	452	.	.	P	+	1	0	MAP4K4	101847862	0.815000	0.29118	1.000000	0.80357	0.997000	0.91878	-0.079000	0.11357	2.515000	0.84797	0.650000	0.86243	CCG		PASS	0.448	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		4	7	4	7	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116101417	116101417	+	Missense_Mutation	SNP	C	C	G	rs201138141		TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr2:116101417C>G	ENST00000410059.1	+	3	680	c.200C>G	c.(199-201)aCc>aGc	p.T67S	DPP10_ENST00000393147.2_Missense_Mutation_p.T71S|DPP10_ENST00000310323.8_Missense_Mutation_p.T60S|DPP10_ENST00000409163.1_Missense_Mutation_p.T17S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	67						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.T60S(1)|p.T67S(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCGTCAGAAACCAGATTGTCT	0.348																																						uc002tla.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(199-201)ACC>AGC		dipeptidyl peptidase 10 isoform long							91.0	95.0	93.0					2																	116101417		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116101417C>G	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.200C>G	2.37:g.116101417C>G	ENSP00000386565:p.Thr67Ser					DPP10_uc002tlb.1_Missense_Mutation_p.T17S|DPP10_uc002tlc.1_Missense_Mutation_p.T63S|DPP10_uc002tle.2_Missense_Mutation_p.T71S|DPP10_uc002tlf.1_Missense_Mutation_p.T60S	p.T67S	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			3	657	+			67			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.200C>G	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	8.813	0.935654	0.18206	.	.	ENSG00000175497	ENST00000436732;ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000419287;ENST00000476155	T;T;T;D;T;T;D	0.95885	1.39;1.39;1.39;-3.84;1.39;1.39;-3.84	5.85	4.97	0.65823	.	0.061993	0.64402	D	0.000006	D	0.91143	0.7211	N	0.25647	0.755	0.34789	D	0.73554	B;B;B;B	0.10296	0.003;0.003;0.001;0.002	B;B;B;B	0.09377	0.004;0.002;0.002;0.002	D	0.90511	0.4481	10	0.51188	T	0.08	-22.09	13.0079	0.58717	0.0:0.838:0.162:0.0	.	60;71;63;67	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	S	17;67;17;63;71;60;17;17	ENSP00000391092:T17S;ENSP00000386565:T67S;ENSP00000387038:T17S;ENSP00000376854:T63S;ENSP00000376855:T71S;ENSP00000309066:T60S;ENSP00000402499:T17S	ENSP00000309066:T60S	T	+	2	0	DPP10	115817887	1.000000	0.71417	0.973000	0.42090	0.983000	0.72400	1.852000	0.39348	1.466000	0.48025	0.585000	0.79938	ACC		PASS	0.348	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		32	120	32	120	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179593377	179593377	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr2:179593377C>G	ENST00000591111.1	-	64	18549	c.18325G>C	c.(18325-18327)Gtt>Ctt	p.V6109L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V6426L|TTN_ENST00000342992.6_Missense_Mutation_p.V5182L|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12896	Ig-like 42.				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.V5182L(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)			CTACTGGGAACTATTTGTTTC	0.408																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(15544-15546)GTT>CTT		titin isoform N2-A							96.0	85.0	88.0					2																	179593377		1843	4104	5947	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179593377C>G	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.18325G>C	2.37:g.179593377C>G	ENSP00000465570:p.Val6109Leu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V1843L	p.V5182L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		63	15768	-			6109					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.15544G>C		.	.	.	.	.	.	.	.	.	.	C	9.396	1.076648	0.20227	.	.	ENSG00000155657	ENST00000342992	T	0.66638	-0.22	5.63	3.82	0.43975	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49012	0.1532	N	0.25647	0.755	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.51482	-0.8700	9	0.87932	D	0	.	4.568	0.12196	0.0:0.5377:0.1729:0.2894	.	6109	Q8WZ42	TITIN_HUMAN	L	5182	ENSP00000343764:V5182L	ENSP00000343764:V5182L	V	-	1	0	TTN	179301622	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	2.067000	0.41461	1.533000	0.49186	0.655000	0.94253	GTT		PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	55	24	55	---	---	---	---
SATB2	23314	broad.mit.edu	37	2	200213525	200213525	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr2:200213525C>T	ENST00000417098.1	-	7	1888	c.1072G>A	c.(1072-1074)Gtg>Atg	p.V358M	SATB2_ENST00000443023.1_Missense_Mutation_p.V299M|SATB2_ENST00000260926.5_Missense_Mutation_p.V358M|SATB2_ENST00000428695.1_Missense_Mutation_p.V240M|SATB2_ENST00000457245.1_Missense_Mutation_p.V358M	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	358					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.V358M(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAGACTTCCACGGAAGAGTTG	0.547																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1072-1074)GTG>ATG		SATB homeobox 2							176.0	168.0	171.0					2																	200213525		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200213525C>T	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1072G>A	2.37:g.200213525C>T	ENSP00000401112:p.Val358Met					SATB2_uc010fsq.1_Missense_Mutation_p.V240M|SATB2_uc002uuz.1_Missense_Mutation_p.V358M|SATB2_uc002uva.1_Missense_Mutation_p.V358M|SATB2_uc002uvb.1_Missense_Mutation_p.V101M	p.V358M	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			7	1889	-			358			CUT 1.		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.1072G>A	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362285	0.82353	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.46063	0.89;0.89;0.89;0.88;0.89	5.72	5.72	0.89469	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (1);	0.142736	0.46145	D	0.000313	T	0.47930	0.1472	N	0.12182	0.205	0.42993	D	0.994497	D;D;D	0.76494	0.999;0.999;0.999	D;P;D	0.64877	0.919;0.903;0.93	T	0.54200	-0.8329	10	0.52906	T	0.07	-13.7282	19.8861	0.96913	0.0:1.0:0.0:0.0	.	240;106;358	Q3ZB87;Q9H726;Q9UPW6	.;.;SATB2_HUMAN	M	358;299;358;240;358	ENSP00000401112:V358M;ENSP00000388764:V299M;ENSP00000260926:V358M;ENSP00000388581:V240M;ENSP00000405420:V358M	ENSP00000260926:V358M	V	-	1	0	SATB2	199921770	0.998000	0.40836	0.999000	0.59377	0.984000	0.73092	3.734000	0.55037	2.711000	0.92665	0.655000	0.94253	GTG		PASS	0.547	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		79	214	79	214	---	---	---	---
CRYGA	1418	broad.mit.edu	37	2	209025628	209025628	+	Missense_Mutation	SNP	C	C	T	rs559628404		TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr2:209025628C>T	ENST00000304502.4	-	3	444	c.425G>A	c.(424-426)cGg>cAg	p.R142Q		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	142	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.R142Q(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		CAGATACTGCCGCCCCCGGTA	0.572													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14323	0.0		0.0	False		,,,				2504	0.0					uc002vcq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(424-426)CGG>CAG		crystallin, gamma A							85.0	89.0	88.0					2																	209025628		2203	4300	6503	SO:0001583	missense	1418				visual perception		structural constituent of eye lens	g.chr2:209025628C>T		CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"""gamma crystallin 5"""	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.425G>A	2.37:g.209025628C>T	ENSP00000302105:p.Arg142Gln						p.R142Q	NM_014617	NP_055432	P11844	CRGA_HUMAN		Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)	3	442	-			142			Beta/gamma crystallin 'Greek key' 4.		Q53ST5	Missense_Mutation	SNP	ENST00000304502.4	37	c.425G>A	CCDS33367.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177658	0.78564	.	.	ENSG00000168582	ENST00000304502	T	0.78003	-1.14	4.69	3.81	0.43845	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.100530	0.64402	N	0.000004	T	0.68924	0.3054	L	0.60957	1.885	0.49051	D	0.999745	P	0.50272	0.933	B	0.35510	0.204	T	0.73183	-0.4063	10	0.72032	D	0.01	.	10.8592	0.46817	0.0:0.9073:0.0:0.0927	.	142	P11844	CRGA_HUMAN	Q	142	ENSP00000302105:R142Q	ENSP00000302105:R142Q	R	-	2	0	CRYGA	208733873	0.057000	0.20700	0.997000	0.53966	0.985000	0.73830	3.518000	0.53451	1.320000	0.45209	0.650000	0.86243	CGG		PASS	0.572	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337096.1	NM_014617		53	166	53	166	---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210560619	210560619	+	Missense_Mutation	SNP	A	A	G	rs200382253		TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr2:210560619A>G	ENST00000360351.4	+	7	4231	c.3725A>G	c.(3724-3726)cAg>cGg	p.Q1242R	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.Q1238R	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1242					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.Q1242R(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ATAGAAGCCCAGGGAGAATAT	0.488																																					Pancreas(27;423 979 28787 29963)	uc002vde.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(3724-3726)CAG>CGG		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						76.0	80.0	79.0					2																	210560619		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210560619A>G		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3725A>G	2.37:g.210560619A>G	ENSP00000353508:p.Gln1242Arg					MAP2_uc002vdc.1_Missense_Mutation_p.Q1242R|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.Q1238R	p.Q1242R	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	3973	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1242					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.3725A>G	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	0.181	-1.062540	0.01950	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.17691	2.26;2.26	5.66	-4.69	0.03299	MAP2/Tau projection (1);	1.437160	0.04336	N	0.353192	T	0.06735	0.0172	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.40327	-0.9569	10	0.12430	T	0.62	1.6174	12.5872	0.56424	0.1489:0.1622:0.6888:0.0	.	1238;1242	P11137-3;P11137	.;MAP2_HUMAN	R	1242;1238	ENSP00000353508:Q1242R;ENSP00000392164:Q1238R	ENSP00000353508:Q1242R	Q	+	2	0	MAP2	210268864	0.000000	0.05858	0.578000	0.28575	0.928000	0.56348	-1.999000	0.01467	-0.972000	0.03559	-0.417000	0.06048	CAG		PASS	0.488	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		29	92	29	92	---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212812187	212812187	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr2:212812187C>T	ENST00000342788.4	-	3	699	c.389G>A	c.(388-390)gGa>gAa	p.G130E	ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000436443.1_Missense_Mutation_p.G130E|ERBB4_ENST00000402597.1_Missense_Mutation_p.G130E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	130					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G130E(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TTCTTGAAGTCCAAAGTTTCC	0.343										TSP Lung(8;0.080)																												uc002veg.1																			1	Substitution - Missense(1)		lung(1)	lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(388-390)GGA>GAA		v-erb-a erythroblastic leukemia viral oncogene							120.0	117.0	118.0					2																	212812187		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212812187C>T	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.389G>A	2.37:g.212812187C>T	ENSP00000342235:p.Gly130Glu	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.G130E|ERBB4_uc010zji.1_Missense_Mutation_p.G130E|ERBB4_uc010zjj.1_Missense_Mutation_p.G130E|ERBB4_uc010fut.1_Missense_Mutation_p.G130E	p.G130E	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	3	487	-		Renal(323;0.06)|Lung NSC(271;0.197)	130			Extracellular (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.389G>A	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.902959|4.902959	0.92035|0.92035	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597;ENST00000435846	.|T;T;T;T	.|0.78707	.|-0.87;-0.86;-0.87;-1.2	5.54|5.54	5.54|5.54	0.83059|0.83059	.|EGF receptor, L domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89529|0.89529	0.6741|0.6741	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.974;1.0;1.0	D|D	0.90544|0.90544	0.4504|0.4504	5|10	.|0.87932	.|D	.|0	.|.	19.4961|19.4961	0.95073|0.95073	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|130;130;130;130	.|Q15303-4;Q15303-2;Q15303-3;Q15303	.|.;.;.;ERBB4_HUMAN	N|E	130|130;130;130;71	.|ENSP00000342235:G130E;ENSP00000403204:G130E;ENSP00000385565:G130E;ENSP00000405564:G71E	.|ENSP00000342235:G130E	D|G	-|-	1|2	0|0	ERBB4|ERBB4	212520432|212520432	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.818000|7.818000	0.86416|0.86416	2.601000|2.601000	0.87937|0.87937	0.557000|0.557000	0.71058|0.71058	GAC|GGA		PASS	0.343	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		14	78	14	78	---	---	---	---
SCLY	51540	broad.mit.edu	37	2	238991888	238991888	+	Splice_Site	SNP	G	G	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr2:238991888G>A	ENST00000555827.1	+	7	841		c.e7-1		SCLY_ENST00000429612.2_Intron|SCLY_ENST00000373332.3_Splice_Site|SCLY_ENST00000254663.6_Splice_Site|SCLY_ENST00000409736.2_Splice_Site|SCLY_ENST00000422984.2_Splice_Site			Q96I15	SCLY_HUMAN	selenocysteine lyase						cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)	p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		TTTCCTTCCAGTTTTATGGTC	0.433																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	uc010fyv.2																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e7-1		selenocysteine lyase							141.0	129.0	133.0					2																	238991888		2203	4300	6503	SO:0001630	splice_region_variant	51540				cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity	g.chr2:238991888G>A	AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.778-1G>A	2.37:g.238991888G>A						SCLY_uc002vxm.3_Splice_Site_p.F227_splice|SCLY_uc002vxn.2_Splice_Site_p.F260_splice|SCLY_uc010znq.1_Intron|SCLY_uc010znr.1_Splice_Site_p.F166_splice	p.F260_splice	NM_016510	NP_057594	Q96I15	SCLY_HUMAN		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)	7	842	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)						B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Splice_Site	SNP	ENST00000555827.1	37	c.778_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.68|12.68	2.011359|2.011359	0.35511|0.35511	.|.	.|.	ENSG00000132330|ENSG00000132330	ENST00000254663;ENST00000555827;ENST00000373332;ENST00000409736;ENST00000422984;ENST00000437134;ENST00000450965|ENST00000433750	.|.	.|.	.|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|.	.|.	.|.	.|.	.|T	.|0.75034	.|0.3795	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72551	.|-0.4259	.|4	.|.	.|.	.|.	.|.	18.8114|18.8114	0.92059|0.92059	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|N	-1|1	.|.	.|.	.|S	+|+	.|2	.|0	SCLY|SCLY	238656627|238656627	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.282000|0.282000	0.26991|0.26991	8.905000|8.905000	0.92613|0.92613	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	.|AGT		PASS	0.433	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510	Intron	42	125	42	125	---	---	---	---
FOXP1	27086	broad.mit.edu	37	3	71090510	71090510	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr3:71090510G>A	ENST00000318789.4	-	11	1363	c.838C>T	c.(838-840)Cag>Tag	p.Q280*	FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q280*|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q280*|FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q282*|FOXP1_ENST00000484350.1_Nonsense_Mutation_p.Q204*|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q280*|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q280*|FOXP1_ENST00000472382.1_5'UTR	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	280					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q280*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ACTGAGAGCTGTCCATTGGTA	0.522			T	PAX5	ALL																																	uc003dol.2				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)	2						c.(838-840)CAG>TAG		forkhead box P1 isoform 1							210.0	189.0	196.0					3																	71090510		2203	4300	6503	SO:0001587	stop_gained	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71090510G>A	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.838C>T	3.37:g.71090510G>A	ENSP00000318902:p.Gln280*					FOXP1_uc003dom.2_Nonsense_Mutation_p.Q204*|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Nonsense_Mutation_p.Q280*|FOXP1_uc003dop.2_Nonsense_Mutation_p.Q280*|FOXP1_uc003doq.1_Nonsense_Mutation_p.Q279*|FOXP1_uc003doi.2_Nonsense_Mutation_p.Q180*|FOXP1_uc003doj.2_Nonsense_Mutation_p.Q180*|FOXP1_uc003dok.2_Nonsense_Mutation_p.Q93*|FOXP1_uc003dor.1_Nonsense_Mutation_p.Q58*	p.Q280*	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	7	1161	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	280					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Nonsense_Mutation	SNP	ENST00000318789.4	37	c.838C>T	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	G	36	5.779010	0.96929	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577;ENST00000485326	.	.	.	5.98	5.98	0.97165	.	0.103535	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	.	.	.	X	280;92;180;280;280;176;282;280;280;204;280;180	.	ENSP00000318902:Q280X	Q	-	1	0	FOXP1	71173200	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.835000	0.97688	0.650000	0.86243	CAG		PASS	0.522	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		44	91	44	91	---	---	---	---
CADM2	253559	broad.mit.edu	37	3	85935470	85935470	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr3:85935470G>T	ENST00000407528.2	+	4	557	c.495G>T	c.(493-495)gaG>gaT	p.E165D	CADM2_ENST00000405615.2_Missense_Mutation_p.E167D|CADM2_ENST00000383699.3_Missense_Mutation_p.E174D	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	165	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.E167D(1)|p.E174D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ATGACAAAGAGATTAAAGGTA	0.323																																						uc003dqj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(493-495)GAG>GAT		immunoglobulin superfamily, member 4D							46.0	45.0	46.0					3																	85935470		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85935470G>T	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.495G>T	3.37:g.85935470G>T	ENSP00000384575:p.Glu165Asp					CADM2_uc003dqk.2_Missense_Mutation_p.E174D|CADM2_uc003dql.2_Missense_Mutation_p.E167D	p.E165D	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	4	1121	+		Lung NSC(201;0.0148)	165			Ig-like C2-type 1.|Extracellular (Potential).		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.495G>T	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614854	0.66672	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.77620	-1.11;-1.11;-1.11	5.3	3.48	0.39840	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	M	0.86028	2.79	0.53005	D	0.999968	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.986;0.993;0.994	D	0.85560	0.1227	10	0.54805	T	0.06	.	8.7255	0.34467	0.3084:0.0:0.6916:0.0	.	167;174;165	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	D	174;165;167	ENSP00000373200:E174D;ENSP00000384575:E165D;ENSP00000384193:E167D	ENSP00000373200:E174D	E	+	3	2	CADM2	86018160	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.224000	0.58593	0.589000	0.29677	0.557000	0.71058	GAG		PASS	0.323	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		20	41	20	41	---	---	---	---
OR5K4	403278	broad.mit.edu	37	3	98073073	98073073	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr3:98073073A>G	ENST00000354924.2	+	1	376	c.376A>G	c.(376-378)Ata>Gta	p.I126V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I126V(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CTATGTGGCCATATGCCACCC	0.483																																						uc011bgv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(376-378)ATA>GTA		olfactory receptor, family 5, subfamily K,							160.0	158.0	159.0					3																	98073073		2203	4300	6503	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98073073A>G		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.376A>G	3.37:g.98073073A>G	ENSP00000347003:p.Ile126Val						p.I126V	NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN			1	376	+			126			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000354924.2	37	c.376A>G	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.865889	0.51588	.	.	ENSG00000196098	ENST00000354924	T	0.50813	0.73	4.77	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34110	U	0.004253	T	0.61388	0.2343	M	0.72118	2.19	0.29688	N	0.841158	D	0.76494	0.999	D	0.81914	0.995	T	0.57219	-0.7849	10	0.24483	T	0.36	-61.4606	8.7557	0.34643	0.9088:0.0:0.0912:0.0	.	126	A6NMS3	OR5K4_HUMAN	V	126	ENSP00000347003:I126V	ENSP00000347003:I126V	I	+	1	0	OR5K4	99555763	1.000000	0.71417	0.944000	0.38274	0.990000	0.78478	3.780000	0.55386	0.947000	0.37659	0.491000	0.48974	ATA		PASS	0.483	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			48	422	48	422	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113379864	113379864	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr3:113379864G>T	ENST00000478658.1	-	5	682	c.665C>A	c.(664-666)cCt>cAt	p.P222H	KIAA2018_ENST00000316407.4_Missense_Mutation_p.P222H|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	222			P -> A (in dbSNP:rs9866806). {ECO:0000269|PubMed:17974005}.			membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.P222H(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AAGAGGAACAGGCTGGTTGGT	0.478																																						uc003eam.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(664-666)CCT>CAT		hypothetical protein LOC205717							64.0	69.0	67.0					3																	113379864		1954	4151	6105	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113379864G>T	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.665C>A	3.37:g.113379864G>T	ENSP00000420721:p.Pro222His					KIAA2018_uc003eal.2_Missense_Mutation_p.P166H	p.P222H	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	1076	-			222					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.665C>A	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042665	0.35989	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.14391	2.51;2.51	5.95	5.95	0.96441	.	0.486738	0.19311	N	0.117389	T	0.09686	0.0238	N	0.08118	0	0.30172	N	0.801162	P	0.43169	0.8	B	0.43916	0.436	T	0.03630	-1.1018	10	0.72032	D	0.01	-7.8482	10.3193	0.43756	0.069:0.0:0.7964:0.1346	.	222	Q68DE3	K2018_HUMAN	H	222	ENSP00000320794:P222H;ENSP00000420721:P222H	ENSP00000320794:P222H	P	-	2	0	KIAA2018	114862554	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.635000	0.46537	2.825000	0.97269	0.655000	0.94253	CCT		PASS	0.478	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		59	69	59	69	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140167502	140167502	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr3:140167502G>C	ENST00000458420.3	+	6	1119	c.929G>C	c.(928-930)tGt>tCt	p.C310S	RP11-68L1.2_ENST00000509191.1_RNA|RP11-68L1.2_ENST00000502712.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	310					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.C310S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGGAAGGGTTGTGACCGGGAG	0.463										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(928-930)TGT>TCT		calsyntenin 2 precursor							131.0	133.0	132.0					3																	140167502		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140167502G>C	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.929G>C	3.37:g.140167502G>C	ENSP00000402460:p.Cys310Ser	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Missense_Mutation_p.C310S	p.C310S	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			6	1119	+			310			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.929G>C	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675003	0.88445	.	.	ENSG00000158258	ENST00000458420	T	0.39592	1.07	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.71592	0.3358	M	0.91717	3.235	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.78460	-0.2195	10	0.62326	D	0.03	-22.1023	16.2424	0.82423	0.0:0.0:1.0:0.0	.	310	Q9H4D0	CSTN2_HUMAN	S	310	ENSP00000402460:C310S	ENSP00000402460:C310S	C	+	2	0	CLSTN2	141650192	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	9.813000	0.99286	2.425000	0.82216	0.561000	0.74099	TGT		PASS	0.463	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		110	281	110	281	---	---	---	---
TM4SF19	116211	broad.mit.edu	37	3	196051168	196051168	+	Silent	SNP	A	A	G			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr3:196051168A>G	ENST00000273695.3	-	4	548	c.423T>C	c.(421-423)ggT>ggC	p.G141G	TM4SF19_ENST00000442633.1_Silent_p.G141G|TM4SF19_ENST00000454715.1_Silent_p.G115G|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19_ENST00000446879.1_Silent_p.G141G|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19-AS1_ENST00000420226.1_RNA	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	141						integral component of membrane (GO:0016021)		p.G141G(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TGAATGGGTAACCATATTTCC	0.433																																						uc003fwl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(421-423)GGT>GGC		transmembrane 4 L six family member 19							101.0	93.0	96.0					3																	196051168		2203	4300	6503	SO:0001819	synonymous_variant	116211					integral to membrane		g.chr3:196051168A>G	BC013113	CCDS3316.1, CCDS56299.1	3q29	2005-08-09			ENSG00000145107	ENSG00000145107			25167	protein-coding gene	gene with protein product						12477932	Standard	NM_138461		Approved		uc021xjs.1	Q96DZ7	OTTHUMG00000155675	ENST00000273695.3:c.423T>C	3.37:g.196051168A>G						TM4SF19_uc003fwj.2_RNA|uc003fwk.1_3'UTR|TM4SF19_uc010iad.1_Silent_p.G141G|TM4SF19_uc011btv.1_Silent_p.G115G	p.G141G	NM_138461	NP_612470	Q96DZ7	T4S19_HUMAN	Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)	4	548	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		141			Extracellular (Potential).		B2RV20|E9PH22|Q336K7	Silent	SNP	ENST00000273695.3	37	c.423T>C	CCDS3316.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.574214	0.45902	.	.	ENSG00000145107	ENST00000440822	.	.	.	5.01	1.73	0.24493	.	.	.	.	.	T	0.53932	0.1827	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44847	-0.9301	4	.	.	.	-6.5207	6.3982	0.21624	0.6782:0.0:0.3218:0.0	.	.	.	.	A	9	.	.	V	-	2	0	TM4SF19	197535565	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	0.283000	0.18846	0.540000	0.28808	0.460000	0.39030	GTT		PASS	0.433	TM4SF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341174.1	NM_138461		46	122	46	122	---	---	---	---
GAK	2580	broad.mit.edu	37	4	887731	887731	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr4:887731G>A	ENST00000314167.4	-	8	918	c.808C>T	c.(808-810)Cga>Tga	p.R270*	GAK_ENST00000511163.1_Nonsense_Mutation_p.R191*	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R270*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TTGACTATTCGAAGTTTCGCT	0.607																																						uc003gbm.3																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|central_nervous_system(1)|skin(1)	4						c.(808-810)CGA>TGA		cyclin G associated kinase							108.0	73.0	85.0					4																	887731		2201	4299	6500	SO:0001587	stop_gained	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:887731G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.808C>T	4.37:g.887731G>A	ENSP00000314499:p.Arg270*					GAK_uc003gbn.3_Nonsense_Mutation_p.R191*|GAK_uc010ibk.1_Nonsense_Mutation_p.R164*|GAK_uc003gbl.3_Nonsense_Mutation_p.R134*	p.R270*	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	8	1007	-			270			Protein kinase.		Q5U4P5|Q9BVY6	Nonsense_Mutation	SNP	ENST00000314167.4	37	c.808C>T	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	37	6.312879	0.97467	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	.	.	.	4.95	4.1	0.47936	.	0.120472	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.0824	12.3537	0.55163	0.0:0.0:0.8297:0.1703	.	.	.	.	X	270;191	.	ENSP00000314499:R270X	R	-	1	2	GAK	877731	1.000000	0.71417	0.594000	0.28785	0.981000	0.71138	6.839000	0.75364	1.052000	0.40392	0.563000	0.77884	CGA		PASS	0.607	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		3	35	3	35	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123195521	123195521	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr4:123195521G>C	ENST00000264501.4	+	49	8843	c.8470G>C	c.(8470-8472)Gag>Cag	p.E2824Q	KIAA1109_ENST00000455637.1_Missense_Mutation_p.E2824Q|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E2824Q			Q2LD37	K1109_HUMAN	KIAA1109	2824					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E2824Q(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAGATGACTGAGACTTGTGC	0.279																																						uc003ieh.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(8470-8472)GAG>CAG		fragile site-associated protein							131.0	120.0	123.0					4																	123195521		1815	4071	5886	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123195521G>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.8470G>C	4.37:g.123195521G>C	ENSP00000264501:p.Glu2824Gln					KIAA1109_uc003iel.1_Missense_Mutation_p.E759Q|KIAA1109_uc003iek.2_Missense_Mutation_p.E1443Q	p.E2824Q	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			47	8515	+			2824					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.8470G>C	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.850175|4.850175	0.91277|0.91277	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000419325	T;T;T|.	0.29655|.	2.16;2.16;1.56|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|.	0.72969|.	0.3527|.	L|L	0.54323|0.54323	1.7|1.7	0.53005|0.53005	D|D	0.999963|0.999963	D;D;D|.	0.69078|.	0.989;0.996;0.997|.	D;D;D|.	0.78314|.	0.979;0.991;0.986|.	T|.	0.66901|.	-0.5806|.	10|.	0.66056|.	D|.	0.02|.	.|.	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2824;2823;2824|.	Q2LD37-6;Q2LD37-2;Q2LD37|.	.;.;K1109_HUMAN|.	Q|S	2824|781	ENSP00000264501:E2824Q;ENSP00000373390:E2824Q;ENSP00000389925:E2824Q|.	ENSP00000264501:E2824Q|.	E|X	+|+	1|2	0|2	KIAA1109|KIAA1109	123414971|123414971	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.961000|8.961000	0.93122|0.93122	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAG|TGA		PASS	0.279	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		23	48	23	48	---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158253997	158253997	+	Silent	SNP	C	C	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr4:158253997C>T	ENST00000264426.9	+	7	1188	c.909C>T	c.(907-909)gcC>gcT	p.A303A	GRIA2_ENST00000393815.2_Silent_p.A256A|GRIA2_ENST00000296526.7_Silent_p.A303A|GRIA2_ENST00000507898.1_Silent_p.A256A|GRIA2_ENST00000449365.1_Silent_p.A256A	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	303					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.A303A(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CCTATGATGCCGTTCAAGTGA	0.473																																						uc003ipm.3																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(3)|ovary(1)	4						c.(907-909)GCC>GCT		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						116.0	121.0	120.0					4																	158253997		2203	4300	6503	SO:0001819	synonymous_variant	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158253997C>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.909C>T	4.37:g.158253997C>T						GRIA2_uc011cit.1_Silent_p.A256A|GRIA2_uc003ipl.3_Silent_p.A303A|GRIA2_uc003ipk.3_Silent_p.A256A|GRIA2_uc010iqh.1_RNA	p.A303A	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	7	1368	+	all_hematologic(180;0.24)	Renal(120;0.0458)	303			Extracellular (Potential).		A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	c.909C>T	CCDS43274.1																																																																																				PASS	0.473	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			8	191	8	191	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	36985487	36985487	+	Silent	SNP	T	T	C			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr5:36985487T>C	ENST00000282516.8	+	10	2704	c.2205T>C	c.(2203-2205)acT>acC	p.T735T	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Silent_p.T735T	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	735					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.T735T(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGCCTGAAACTCCAAAGCAAA	0.488																																						uc003jkl.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(2203-2205)ACT>ACC		delangin isoform A							64.0	69.0	68.0					5																	36985487		2203	4300	6503	SO:0001819	synonymous_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36985487T>C	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2205T>C	5.37:g.36985487T>C						NIPBL_uc003jkk.3_Silent_p.T735T|NIPBL_uc003jkm.1_Silent_p.T614T	p.T735T	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	2704	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		735					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	c.2205T>C	CCDS3920.1																																																																																				PASS	0.488	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		4	93	4	93	---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118465097	118465097	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr5:118465097G>T	ENST00000311085.8	+	10	1374	c.1294G>T	c.(1294-1296)Gca>Tca	p.A432S	DMXL1_ENST00000539542.1_Missense_Mutation_p.A432S	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	432								p.A432S(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTCTAATCAGGCAGATGTAAA	0.323																																						uc003ksd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1294-1296)GCA>TCA		Dmx-like 1							31.0	32.0	32.0					5																	118465097		2198	4297	6495	SO:0001583	missense	1657							g.chr5:118465097G>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.1294G>T	5.37:g.118465097G>T	ENSP00000309690:p.Ala432Ser					DMXL1_uc010jcl.1_Missense_Mutation_p.A432S|DMXL1_uc003ksc.1_Missense_Mutation_p.A432S	p.A432S	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	10	1475	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	432						Missense_Mutation	SNP	ENST00000311085.8	37	c.1294G>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	7.747	0.702498	0.15172	.	.	ENSG00000172869	ENST00000503802;ENST00000311085;ENST00000539542	T;T;T	0.46451	0.87;0.87;0.87	5.83	0.945	0.19543	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.150060	0.06030	N	0.652927	T	0.27697	0.0681	N	0.22421	0.69	0.27436	N	0.953859	B;B	0.13594	0.008;0.005	B;B	0.12156	0.007;0.005	T	0.22382	-1.0218	10	0.07482	T	0.82	-1.9459	10.573	0.45211	0.4623:0.0:0.5377:0.0	.	432;432	F5H269;Q9Y485	.;DMXL1_HUMAN	S	432	ENSP00000427692:A432S;ENSP00000309690:A432S;ENSP00000439479:A432S	ENSP00000309690:A432S	A	+	1	0	DMXL1	118492996	0.036000	0.19791	0.987000	0.45799	0.977000	0.68977	-0.001000	0.12947	0.093000	0.17368	-0.225000	0.12378	GCA		PASS	0.323	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		23	77	23	77	---	---	---	---
PCDHGA11	56105	broad.mit.edu	37	5	140800885	140800885	+	Nonsense_Mutation	SNP	C	C	T	rs370020854		TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr5:140800885C>T	ENST00000398587.2	+	1	124	c.91C>T	c.(91-93)Cag>Tag	p.Q31*	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Nonsense_Mutation_p.Q31*|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	31	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q31*(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGGCCAGGCAGATCCGATA	0.657																																						uc003lkq.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(91-93)CAG>TAG		protocadherin gamma subfamily A, 11 isoform 1		C	,,,stop/GLN,,,,,,,,,,,,,,,stop/GLN,stop/GLN	0,3912		0,0,1956	23.0	28.0	26.0		,,,91,,,,,,,,,,,,,,,91,91	3.3	0.7	5		26	1,8367		0,1,4183	no	intron,intron,intron,stop-gained,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,stop-gained,stop-gained	PCDHGB4,PCDHGA8,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_032088.1,NM_032091.1,NM_032092.1	,,,,,,,,,,,,,,,,,,,	0,1,6139	TT,TC,CC		0.012,0.0,0.0081	,,,,,,,,,,,,,,,,,,,	,,,31/936,,,,,,,,,,,,,,,31/838,31/751	140800885	1,12279	1956	4184	6140	SO:0001587	stop_gained	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140800885C>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.91C>T	5.37:g.140800885C>T	ENSP00000381589:p.Gln31*					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Nonsense_Mutation_p.Q31*|PCDHGA11_uc003lkp.1_Nonsense_Mutation_p.Q31*	p.Q31*	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	349	+			31			Extracellular (Potential).|Cadherin 1.		B7ZVY8|Q9Y5D8|Q9Y5D9	Nonsense_Mutation	SNP	ENST00000398587.2	37	c.91C>T	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	c	19.73	3.881859	0.72294	0.0	1.2E-4	ENSG00000253873	ENST00000398587;ENST00000518882	.	.	.	6.08	3.3	0.37823	.	0.000000	0.28296	U	0.015869	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	11.68	0.51453	0.3531:0.5332:0.1137:0.0	.	.	.	.	X	31	.	ENSP00000381589:Q31X	Q	+	1	0	PCDHGA11	140781069	0.968000	0.33430	0.725000	0.30721	0.465000	0.32709	1.816000	0.38992	0.429000	0.26202	0.591000	0.81541	CAG		PASS	0.657	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		19	51	19	51	---	---	---	---
CSNK1A1	1452	broad.mit.edu	37	5	148889453	148889453	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr5:148889453C>A	ENST00000377843.2	-	7	1218	c.739G>T	c.(739-741)Gtt>Ttt	p.V247F	CSNK1A1_ENST00000606719.1_Missense_Mutation_p.V44F|CSNK1A1_ENST00000261798.5_Missense_Mutation_p.V247F|CSNK1A1_ENST00000606299.1_Missense_Mutation_p.V7F|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.V275F|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.V158F|CSNK1A1_ENST00000515435.1_Missense_Mutation_p.V186F	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V247F(1)|p.V275F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TTACATAAAACTTCAACAGGC	0.348																																					Colon(5;64 69 1309 10383)	uc003lqx.1																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(739-741)GTT>TTT		casein kinase 1, alpha 1 isoform 2							114.0	111.0	112.0					5																	148889453		1968	4216	6184	SO:0001583	missense	1452				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein binding|protein serine/threonine kinase activity	g.chr5:148889453C>A	AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.739G>T	5.37:g.148889453C>A	ENSP00000367074:p.Val247Phe					CSNK1A1_uc011dcb.1_Missense_Mutation_p.V156F|CSNK1A1_uc011dcc.1_Missense_Mutation_p.V186F|CSNK1A1_uc003lqv.1_Missense_Mutation_p.V158F|CSNK1A1_uc003lqw.1_Missense_Mutation_p.V275F|CSNK1A1_uc003lqy.1_Missense_Mutation_p.V247F|CSNK1A1_uc010jha.1_Missense_Mutation_p.V247F	p.V247F	NM_001892	NP_001883	P48729	KC1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	7	1219	-			247			Protein kinase.		D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Missense_Mutation	SNP	ENST00000377843.2	37	c.739G>T	CCDS47303.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.58|19.58	3.854216|3.854216	0.71719|0.71719	.|.	.|.	ENSG00000113712|ENSG00000113712	ENST00000503350|ENST00000261798;ENST00000377843;ENST00000504676;ENST00000515435;ENST00000322237;ENST00000515768	.|T;T;T;T;T	.|0.10477	.|2.87;2.87;2.87;2.87;2.87	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.21761|0.21761	0.0524|0.0524	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B	.|0.23058	.|0.022;0.045;0.014;0.026;0.079;0.007	.|B;B;B;B;B;B	.|0.27076	.|0.076;0.076;0.027;0.064;0.067;0.043	T|T	0.01951|0.01951	-1.1241|-1.1241	5|10	.|0.59425	.|D	.|0.04	.|.	20.1535|20.1535	0.98095|0.98095	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|186;186;247;247;275;158	.|B4DER9;E7ETM0;Q71TU5;P48729;P48729-2;D6REM4	.|.;.;.;KC1A_HUMAN;.;.	N|F	77|247;247;158;186;247;275	.|ENSP00000261798:V247F;ENSP00000367074:V247F;ENSP00000426747:V158F;ENSP00000427031:V186F;ENSP00000421689:V275F	.|ENSP00000261798:V247F	K|V	-|-	3|1	2|0	CSNK1A1|CSNK1A1	148869646|148869646	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.851000|5.851000	0.69481|0.69481	2.764000|2.764000	0.94973|0.94973	0.650000|0.650000	0.86243|0.86243	AAG|GTT		PASS	0.348	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001892		3	65	3	65	---	---	---	---
KIF6	221458	broad.mit.edu	37	6	39563859	39563859	+	Missense_Mutation	SNP	T	T	G	rs151248135		TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr6:39563859T>G	ENST00000287152.7	-	7	911	c.817A>C	c.(817-819)Atc>Ctc	p.I273L	KIF6_ENST00000373216.3_Missense_Mutation_p.I273L|KIF6_ENST00000373213.4_Missense_Mutation_p.I112L|KIF6_ENST00000538893.1_Missense_Mutation_p.I273L|KIF6_ENST00000373215.3_Missense_Mutation_p.I273L	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	273	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I273L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GACAAGTTGATATACTTGGCC	0.443																																						uc003oot.2																			2	Substitution - Missense(2)		lung(2)	breast(2)|central_nervous_system(1)	3						c.(817-819)ATC>CTC		kinesin family member 6							105.0	97.0	100.0					6																	39563859		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39563859T>G	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.817A>C	6.37:g.39563859T>G	ENSP00000287152:p.Ile273Leu					KIF6_uc010jxa.1_Missense_Mutation_p.I64L|KIF6_uc011dua.1_Missense_Mutation_p.I273L|KIF6_uc010jxb.1_Missense_Mutation_p.I273L	p.I273L	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN			7	912	-			273			Kinesin-motor.		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.817A>C	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	T	31	5.081092	0.94050	.	.	ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893;ENST00000441975;ENST00000373211	D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.98	5.98	0.97165	Kinesin, motor domain (4);	.	.	.	.	D	0.94417	0.8204	H	0.99011	4.4	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.83275	0.975;0.996;0.996;0.975	D	0.96457	0.9338	9	0.87932	D	0	.	14.7079	0.69206	0.0:0.0:0.0:1.0	.	273;273;273;273	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9	.;.;.;KIF6_HUMAN	L	273;273;112;273;273;60;64	ENSP00000287152:I273L;ENSP00000362312:I273L;ENSP00000362309:I112L;ENSP00000362311:I273L;ENSP00000441435:I273L;ENSP00000404856:I60L	ENSP00000287152:I273L	I	-	1	0	KIF6	39671837	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	8.040000	0.89188	2.288000	0.76882	0.528000	0.53228	ATC		PASS	0.443	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		30	83	30	83	---	---	---	---
PRSS35	167681	broad.mit.edu	37	6	84233224	84233224	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr6:84233224G>C	ENST00000369700.3	+	2	241	c.64G>C	c.(64-66)Gaa>Caa	p.E22Q	PRSS35_ENST00000536636.1_Missense_Mutation_p.E22Q	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	22						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.E22Q(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TGATGGATCTGAAATGGAATG	0.413																																						uc003pjz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(64-66)GAA>CAA		protease, serine, 35 precursor							114.0	114.0	114.0					6																	84233224		2203	4300	6503	SO:0001583	missense	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84233224G>C	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.64G>C	6.37:g.84233224G>C	ENSP00000358714:p.Glu22Gln					PRSS35_uc010kbm.2_Missense_Mutation_p.E22Q	p.E22Q	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	2	227	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	22					A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	c.64G>C	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	G	5.666	0.307445	0.10733	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.46063	0.88;0.88	5.33	4.45	0.53987	.	0.362437	0.30011	N	0.010640	T	0.20007	0.0481	M	0.68317	2.08	0.09310	N	1	B	0.32245	0.361	B	0.24006	0.05	T	0.10042	-1.0647	10	0.20519	T	0.43	-10.7609	13.8268	0.63354	0.0739:0.0:0.9261:0.0	.	22	Q8N3Z0	PRS35_HUMAN	Q	22	ENSP00000440870:E22Q;ENSP00000358714:E22Q	ENSP00000358714:E22Q	E	+	1	0	PRSS35	84289943	0.982000	0.34865	0.110000	0.21437	0.044000	0.14063	5.761000	0.68801	1.247000	0.43917	0.561000	0.74099	GAA		PASS	0.413	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		54	198	54	198	---	---	---	---
SGK1	6446	broad.mit.edu	37	6	134495937	134495937	+	Silent	SNP	C	C	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr6:134495937C>T	ENST00000237305.7	-	1	97	c.9G>A	c.(7-9)gtG>gtA	p.V3V	SGK1_ENST00000528577.1_Intron|SGK1_ENST00000475719.2_Silent_p.V3V|SGK1_ENST00000367857.5_5'UTR|SGK1_ENST00000413996.3_Intron|SGK1_ENST00000367858.5_Intron|SGK1_ENST00000489458.2_5'Flank	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	3	Necessary for localization to the mitochondria.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.V3V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CCTCAGTTTTCACCGTCATCA	0.587																																						uc003qen.3																			1	Substitution - coding silent(1)		lung(1)	skin(3)|stomach(1)|lung(1)|central_nervous_system(1)	6						c.(7-9)GTG>GTA		serum/glucocorticoid regulated kinase 1 isoform							107.0	99.0	102.0					6																	134495937		2203	4300	6503	SO:0001819	synonymous_variant	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134495937C>T	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.9G>A	6.37:g.134495937C>T						SGK1_uc003qeo.3_Intron|SGK1_uc011ect.1_5'UTR|SGK1_uc011ecu.1_Silent_p.V3V|SGK1_uc011ecv.1_Intron|SGK1_uc011ecw.1_Intron	p.V3V	NM_005627	NP_005618	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	1	98	-	Colorectal(23;0.221)		3			Necessary for localization to the cytoplasm.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	ENST00000237305.7	37	c.9G>A	CCDS5170.1																																																																																				PASS	0.587	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			26	157	26	157	---	---	---	---
CARD11	84433	broad.mit.edu	37	7	2987233	2987233	+	Silent	SNP	G	G	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr7:2987233G>A	ENST00000396946.4	-	3	599	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	66	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.L59L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGGATGGCAGCATAGGGGCA	0.542			Mis		DLBCL																																	uc003smv.2				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(196-198)CTG>TTG		caspase recruitment domain family, member 11							237.0	176.0	197.0					7																	2987233		2203	4300	6503	SO:0001819	synonymous_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2987233G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.196C>T	7.37:g.2987233G>A							p.L66L	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	3	600	-		Ovarian(82;0.0115)	66			CARD.		A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.196C>T	CCDS5336.2																																																																																				PASS	0.542	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		5	177	5	177	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21723442	21723442	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr7:21723442G>A	ENST00000409508.3	+	32	5532	c.5501G>A	c.(5500-5502)cGt>cAt	p.R1834H	DNAH11_ENST00000328843.6_Missense_Mutation_p.R1841H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1841	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1841H(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTCAACTTCGTCACCGATGG	0.443									Kartagener syndrome																													uc003svc.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(5521-5523)CGT>CAT		dynein, axonemal, heavy chain 11							304.0	285.0	291.0					7																	21723442		1930	4120	6050	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21723442G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5501G>A	7.37:g.21723442G>A	ENSP00000475939:p.Arg1834His						p.R1841H	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			33	5553	+			1841			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.5522G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.112583	0.94339	.	.	ENSG00000105877	ENST00000328843	T	0.52526	0.66	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.72890	0.3517	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74825	-0.3533	9	0.87932	D	0	.	19.9467	0.97184	0.0:0.0:1.0:0.0	.	1841	Q96DT5	DYH11_HUMAN	H	1841	ENSP00000330671:R1841H	ENSP00000330671:R1841H	R	+	2	0	DNAH11	21689967	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	7.959000	0.87885	2.814000	0.96858	0.563000	0.77884	CGT		PASS	0.443	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		59	427	59	427	---	---	---	---
NPSR1	387129	broad.mit.edu	37	7	34884573	34884573	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr7:34884573T>C	ENST00000360581.1	+	7	951	c.823T>C	c.(823-825)Tat>Cat	p.Y275H	NPSR1_ENST00000381542.1_Missense_Mutation_p.Y209H|NPSR1_ENST00000531252.1_Missense_Mutation_p.Y264H|NPSR1_ENST00000381539.3_Missense_Mutation_p.Y275H|NPSR1_ENST00000359791.1_Missense_Mutation_p.Y275H	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	275						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)	p.Y275H(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GGCTATCAAGTATAGCATCAT	0.443																																						uc003teg.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|pancreas(1)	4						c.(823-825)TAT>CAT		G protein-coupled receptor for asthma	Halothane(DB01159)						225.0	180.0	195.0					7																	34884573		2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34884573T>C	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.823T>C	7.37:g.34884573T>C	ENSP00000353788:p.Tyr275His					AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.Y275H|NPSR1_uc010kwt.1_Missense_Mutation_p.Y122H|NPSR1_uc010kwu.1_Missense_Mutation_p.Y65H|NPSR1_uc010kwv.1_Missense_Mutation_p.Y209H|NPSR1_uc003tei.1_Missense_Mutation_p.Y275H|NPSR1_uc010kww.1_Missense_Mutation_p.Y264H|NPSR1_uc011kar.1_Missense_Mutation_p.Y209H	p.Y275H	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN			7	951	+			275			Cytoplasmic (Potential).		A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.823T>C	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.258163	0.80246	.	.	ENSG00000187258	ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	5.68	5.68	0.88126	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000036	T	0.49389	0.1554	L	0.47716	1.5	0.47905	D	0.99954	D;D;D;D;D;D	0.76494	0.999;0.998;0.999;0.994;0.998;0.995	D;D;D;D;D;D	0.76071	0.987;0.935;0.978;0.946;0.935;0.972	T	0.49934	-0.8886	10	0.87932	D	0	-14.4925	15.1165	0.72407	0.0:0.0:0.0:1.0	.	209;264;209;275;275;275	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	H	275;209;275;264;275	ENSP00000353788:Y275H;ENSP00000370953:Y209H;ENSP00000352839:Y275H;ENSP00000433258:Y264H;ENSP00000370950:Y275H	ENSP00000352839:Y275H	Y	+	1	0	NPSR1	34851098	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.640000	0.67875	2.182000	0.69389	0.533000	0.62120	TAT		PASS	0.443	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		41	132	41	132	---	---	---	---
ZNF479	90827	broad.mit.edu	37	7	57188280	57188280	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr7:57188280G>T	ENST00000331162.4	-	5	1112	c.842C>A	c.(841-843)tCc>tAc	p.S281Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	281					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.S281Y(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AAGTGCTGAGGAGCGCCTAAA	0.458																																						uc010kzo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(841-843)TCC>TAC		zinc finger protein 479							35.0	36.0	36.0					7																	57188280		2083	4229	6312	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188280G>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.842C>A	7.37:g.57188280G>T	ENSP00000333776:p.Ser281Tyr						p.S281Y	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1113	-			281			C2H2-type 4.			Missense_Mutation	SNP	ENST00000331162.4	37	c.842C>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	g	5.577	0.291327	0.10567	.	.	ENSG00000185177	ENST00000331162	T	0.01209	5.17	1.01	-2.03	0.07365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03390	0.0098	M	0.73217	2.22	0.09310	N	1	D	0.69078	0.997	D	0.71656	0.974	T	0.35599	-0.9782	9	0.28530	T	0.3	.	2.9365	0.05816	0.0:0.4351:0.3133:0.2516	.	281	Q96JC4	ZN479_HUMAN	Y	281	ENSP00000333776:S281Y	ENSP00000333776:S281Y	S	-	2	0	ZNF479	57192222	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-6.786000	0.00053	-0.520000	0.06435	-0.518000	0.04402	TCC		PASS	0.458	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		29	98	29	98	---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	70880936	70880936	+	Silent	SNP	G	G	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr7:70880936G>A	ENST00000333538.5	+	4	1285	c.651G>A	c.(649-651)gtG>gtA	p.V217V	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	217	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.V218L(1)|p.V217V(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGGTGAAGGTGGTAAGAAATC	0.532																																						uc003tvy.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(649-651)GTG>GTA		UDP-GalNAc:polypeptide							83.0	74.0	77.0					7																	70880936		2203	4300	6503	SO:0001819	synonymous_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70880936G>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.651G>A	7.37:g.70880936G>A						WBSCR17_uc003tvz.2_5'UTR	p.V217V	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			4	651	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	217			Catalytic subdomain A.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	c.651G>A	CCDS5540.1																																																																																				PASS	0.532	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		21	74	21	74	---	---	---	---
SEMA3E	9723	broad.mit.edu	37	7	83119520	83119520	+	Silent	SNP	C	C	G	rs148264760		TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr7:83119520C>G	ENST00000307792.3	-	2	653	c.186G>C	c.(184-186)ctG>ctC	p.L62L	SEMA3E_ENST00000427262.1_Silent_p.L2L	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	62	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.L62L(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ATTCATCCAGCAGCATTGTAT	0.413																																						uc003uhy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(184-186)CTG>CTC		semaphorin 3E precursor							85.0	79.0	81.0					7																	83119520		2203	4300	6503	SO:0001819	synonymous_variant	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83119520C>G	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.186G>C	7.37:g.83119520C>G							p.L62L	NM_012431	NP_036563	O15041	SEM3E_HUMAN			2	652	-		Medulloblastoma(109;0.109)	62			Sema.		B4E1P1|Q75M94|Q75M97	Silent	SNP	ENST00000307792.3	37	c.186G>C	CCDS34674.1																																																																																				PASS	0.413	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		21	71	21	71	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106508035	106508035	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr7:106508035T>C	ENST00000359195.3	+	2	339	c.29T>C	c.(28-30)gTg>gCg	p.V10A	PIK3CG_ENST00000496166.1_Missense_Mutation_p.V10A|PIK3CG_ENST00000440650.2_Missense_Mutation_p.V10A	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	10					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V10A(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAACAGCCCGTGGTGCTGAGA	0.577																																						uc003vdv.3																			1	Substitution - Missense(1)		lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(28-30)GTG>GCG		phosphoinositide-3-kinase, catalytic, gamma							46.0	53.0	51.0					7																	106508035		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508035T>C		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.29T>C	7.37:g.106508035T>C	ENSP00000352121:p.Val10Ala					PIK3CG_uc003vdu.2_Missense_Mutation_p.V10A|PIK3CG_uc003vdw.2_Missense_Mutation_p.V10A	p.V10A	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	114	+			10					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.29T>C	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.809466	0.50421	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.69926	-0.44;-0.44;-0.44	5.64	4.47	0.54385	.	0.364580	0.30959	N	0.008526	T	0.62672	0.2447	L	0.60455	1.87	0.39477	D	0.967829	B	0.12013	0.005	B	0.08055	0.003	T	0.62690	-0.6801	10	0.87932	D	0	-26.6758	12.3766	0.55283	0.1263:0.0:0.0:0.8737	.	10	P48736	PK3CG_HUMAN	A	10	ENSP00000392258:V10A;ENSP00000419260:V10A;ENSP00000352121:V10A	ENSP00000352121:V10A	V	+	2	0	PIK3CG	106295271	1.000000	0.71417	0.875000	0.34327	0.980000	0.70556	3.494000	0.53273	1.047000	0.40274	0.460000	0.39030	GTG		PASS	0.577	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			29	107	29	107	---	---	---	---
CFTR	1080	broad.mit.edu	37	7	117307102	117307102	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr7:117307102G>T	ENST00000003084.6	+	27	4515	c.4383G>T	c.(4381-4383)aaG>aaT	p.K1461N	CFTR_ENST00000454343.1_Missense_Mutation_p.K1400N	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1461					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.K1461N(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GCAAGTCTAAGCCCCAGATTG	0.512									Cystic Fibrosis																													uc003vjd.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(4381-4383)AAG>AAT		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						58.0	53.0	55.0					7																	117307102		2203	4300	6503	SO:0001583	missense	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117307102G>T	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.4383G>T	7.37:g.117307102G>T	ENSP00000003084:p.Lys1461Asn					CFTR_uc011knq.1_Missense_Mutation_p.K867N	p.K1461N	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		27	4515	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		1461			Cytoplasmic (Potential).		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.4383G>T	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	8.399	0.841433	0.16963	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.92545	-2.98;-2.8;-3.06	5.47	-10.3	0.00346	.	0.354583	0.31685	N	0.007233	T	0.74869	0.3773	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58629	-0.7603	10	0.56958	D	0.05	-1.6775	7.1553	0.25635	0.234:0.1614:0.5203:0.0843	.	1461	P13569	CFTR_HUMAN	N	1461;1400;1431	ENSP00000003084:K1461N;ENSP00000403677:K1400N;ENSP00000389119:K1431N	ENSP00000003084:K1461N	K	+	3	2	CFTR	117094338	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.507000	0.00961	-1.994000	0.00972	-1.113000	0.02065	AAG		PASS	0.512	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		4	100	4	100	---	---	---	---
VCPIP1	80124	broad.mit.edu	37	8	67578502	67578502	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr8:67578502C>T	ENST00000310421.4	-	1	950	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	231	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.R231Q(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GAAGAGCTCTCGGCCTACTAG	0.507																																					NSCLC(179;265 2915 6144 43644)	uc003xwn.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8						c.(691-693)CGA>CAA		valosin containing protein (p97)/p47 complex							81.0	78.0	79.0					8																	67578502		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578502C>T	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.692G>A	8.37:g.67578502C>T	ENSP00000309031:p.Arg231Gln					SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	p.R231Q	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	951	-		Lung NSC(129;0.142)|all_lung(136;0.227)	231			OTU.		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.692G>A	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559366	0.86335	.	.	ENSG00000175073	ENST00000310421	T	0.33865	1.39	6.16	6.16	0.99307	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.60945	0.2308	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	T	0.59369	-0.7467	10	0.87932	D	0	-10.9637	20.8598	0.99761	0.0:1.0:0.0:0.0	.	231	Q96JH7	VCIP1_HUMAN	Q	231	ENSP00000309031:R231Q	ENSP00000309031:R231Q	R	-	2	0	VCPIP1	67741056	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CGA		PASS	0.507	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			65	90	65	90	---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73850288	73850288	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr8:73850288G>A	ENST00000523207.1	+	3	3286	c.2698G>A	c.(2698-2700)Gac>Aac	p.D900N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	900					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.D900N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CAACCCAGGAGACACAGGTTA	0.373																																						uc003xzb.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(2698-2700)GAC>AAC		potassium voltage-gated channel, Shab-related							82.0	79.0	80.0					8																	73850288		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73850288G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2698G>A	8.37:g.73850288G>A	ENSP00000430846:p.Asp900Asn						p.D900N	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	3286	+	Breast(64;0.137)		900			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.2698G>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856192	0.51376	.	.	ENSG00000182674	ENST00000523207	D	0.97114	-4.25	5.34	5.34	0.76211	.	3.587810	0.01718	N	0.028101	D	0.95589	0.8566	L	0.27053	0.805	0.49130	D	0.999752	B	0.24368	0.102	B	0.23574	0.047	T	0.68784	-0.5317	10	0.35671	T	0.21	.	19.2357	0.93858	0.0:0.0:1.0:0.0	.	900	Q92953	KCNB2_HUMAN	N	900	ENSP00000430846:D900N	ENSP00000430846:D900N	D	+	1	0	KCNB2	74012842	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.117000	0.94347	2.767000	0.95098	0.591000	0.81541	GAC		PASS	0.373	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		7	233	7	233	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144940614	144940614	+	Missense_Mutation	SNP	C	C	T	rs200821582		TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr8:144940614C>T	ENST00000525985.1	-	2	6879	c.6808G>A	c.(6808-6810)Ggc>Agc	p.G2270S				P58107	EPIPL_HUMAN	epiplakin 1	2270						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.G2270S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGACGAAGCCGGTGGCCGCC	0.721																																						uc003zaa.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(14818-14820)GGC>AGC		epiplakin 1		C	SER/GLY	1,4305		0,1,2152	38.0	37.0	37.0		6808	4.6	1.0	8		37	2,8468		0,2,4233	no	missense	EPPK1	NM_031308.1	56	0,3,6385	TT,TC,CC		0.0236,0.0232,0.0235	probably-damaging	2270/2420	144940614	3,12773	2153	4235	6388	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940614C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6808G>A	8.37:g.144940614C>T	ENSP00000436337:p.Gly2270Ser						p.G4940S	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	14831	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		4940			Plectin 62.		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.14818G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.600172	0.96614	2.32E-4	2.36E-4	ENSG00000227184	ENST00000525985	D	0.86497	-2.13	4.63	4.63	0.57726	.	.	.	.	.	D	0.94935	0.8362	M	0.93150	3.385	0.52501	D	0.999952	D	0.89917	1.0	D	0.97110	1.0	D	0.95948	0.8952	9	0.72032	D	0.01	.	15.1031	0.72299	0.0:1.0:0.0:0.0	.	2270	E9PPU0	.	S	2270	ENSP00000436337:G2270S	ENSP00000436337:G2270S	G	-	1	0	EPPK1	145012602	1.000000	0.71417	0.984000	0.44739	0.988000	0.76386	7.595000	0.82710	2.416000	0.81992	0.586000	0.80456	GGC		PASS	0.721	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		3	26	3	26	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90502147	90502147	+	Silent	SNP	C	C	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr9:90502147C>A	ENST00000325643.5	+	4	2811	c.2745C>A	c.(2743-2745)acC>acA	p.T915T		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	915					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.T915T(3)									CAGTCCCGACCGTGAGTGGCC	0.587																																						uc004app.3																			3	Substitution - coding silent(3)		upper_aerodigestive_tract(1)|lung(1)|endometrium(1)	ovary(3)	3						c.(2743-2745)ACC>ACA		chromosome 9 open reading frame 79							53.0	54.0	54.0					9																	90502147		2203	4300	6503	SO:0001819	synonymous_variant	286234					integral to membrane		g.chr9:90502147C>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2745C>A	9.37:g.90502147C>A						C9orf79_uc004apo.1_Silent_p.T727T	p.T915T	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	2780	+			915					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.2745C>A	CCDS6676.1																																																																																				PASS	0.587	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		25	44	25	44	---	---	---	---
RAPGEF1	2889	broad.mit.edu	37	9	134504004	134504004	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr9:134504004C>G	ENST00000372189.3	-	8	1021	c.898G>C	c.(898-900)Gtg>Ctg	p.V300L	RAPGEF1_ENST00000372195.1_Missense_Mutation_p.V317L|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.V318L	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	300					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.V318L(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		ACCACAGCCACTCGGGTAGGG	0.592																																						uc004cbc.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|skin(1)	7						c.(898-900)GTG>CTG		guanine nucleotide-releasing factor 2 isoform a							45.0	50.0	48.0					9																	134504004		1938	4135	6073	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134504004C>G	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.898G>C	9.37:g.134504004C>G	ENSP00000361263:p.Val300Leu					RAPGEF1_uc004cbb.2_Missense_Mutation_p.V318L|RAPGEF1_uc010mzm.2_5'Flank|RAPGEF1_uc010mzn.2_Missense_Mutation_p.V305L|RAPGEF1_uc004cbd.2_Missense_Mutation_p.V305L	p.V300L	NM_005312	NP_005303	Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	8	1028	-		Myeloproliferative disorder(178;0.204)	300					Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.898G>C	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891853	0.91889	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686	T;T;T	0.41065	1.01;1.01;1.01	5.0	5.0	0.66597	.	0.382752	0.29093	N	0.013179	T	0.60715	0.2290	M	0.64997	1.995	0.44555	D	0.997512	D;D;D	0.71674	0.996;0.996;0.998	D;D;D	0.81914	0.99;0.99;0.995	T	0.55554	-0.8123	10	0.22109	T	0.4	.	17.2825	0.87132	0.0:1.0:0.0:0.0	.	317;300;318	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	L	300;317;194;300;318;280;226;317	ENSP00000361269:V317L;ENSP00000361263:V300L;ENSP00000361264:V318L	ENSP00000266110:V300L	V	-	1	0	RAPGEF1	133493825	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	5.421000	0.66447	2.310000	0.77875	0.462000	0.41574	GTG		PASS	0.592	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		11	29	11	29	---	---	---	---
CAMSAP1	157922	broad.mit.edu	37	9	138707778	138707778	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr9:138707778C>A	ENST00000389532.4	-	15	4409	c.4345G>T	c.(4345-4347)Gcg>Tcg	p.A1449S	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.A1171S|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.A1460S	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1449					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.A1449S(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GCCGCCGACGCGGTCTCCCAG	0.607																																						uc004cgr.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(4345-4347)GCG>TCG		calmodulin regulated spectrin-associated protein							100.0	84.0	90.0					9																	138707778		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138707778C>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4345G>T	9.37:g.138707778C>A	ENSP00000374183:p.Ala1449Ser					CAMSAP1_uc004cgq.3_Missense_Mutation_p.A1339S|CAMSAP1_uc010nbg.2_Missense_Mutation_p.A1171S	p.A1449S	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	15	4345	-			1449					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.4345G>T	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633964	0.47049	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.15017	2.47;2.46;2.47	5.18	3.35	0.38373	.	0.109289	0.64402	D	0.000007	T	0.24547	0.0595	L	0.46157	1.445	0.31418	N	0.674665	P;P	0.45986	0.866;0.87	B;P	0.52481	0.384;0.7	T	0.14227	-1.0480	10	0.87932	D	0	-25.5592	9.7291	0.40350	0.0:0.7773:0.0:0.2227	.	1449;1460	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	S	1449;1171;1460	ENSP00000374183:A1449S;ENSP00000312463:A1171S;ENSP00000386420:A1460S	ENSP00000312463:A1171S	A	-	1	0	CAMSAP1	137847599	1.000000	0.71417	0.002000	0.10522	0.033000	0.12548	5.800000	0.69108	0.599000	0.29845	-0.136000	0.14681	GCG		PASS	0.607	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		28	83	28	83	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26463194	26463194	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr10:26463194G>T	ENST00000265944.5	+	30	4167	c.4001G>T	c.(4000-4002)aGg>aTg	p.R1334M	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1334					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R1334M(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTCAAAGAGAGGCAAGTTGAA	0.502																																						uc001isn.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(4000-4002)AGG>ATG		myosin IIIA							130.0	135.0	133.0					10																	26463194		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26463194G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4001G>T	10.37:g.26463194G>T	ENSP00000265944:p.Arg1334Met					MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	p.R1334M	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			30	4361	+			1334					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.4001G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	g	12.17	1.858887	0.32884	.	.	ENSG00000095777	ENST00000265944	T	0.78481	-1.18	5.37	-3.36	0.04913	.	0.984726	0.08354	N	0.958815	T	0.52208	0.1720	N	0.08118	0	0.09310	N	1	P	0.41748	0.761	B	0.34038	0.174	T	0.47898	-0.9081	10	0.56958	D	0.05	.	8.6414	0.33978	0.6325:0.122:0.2455:0.0	.	1334	Q8NEV4	MYO3A_HUMAN	M	1334	ENSP00000265944:R1334M	ENSP00000265944:R1334M	R	+	2	0	MYO3A	26503200	0.490000	0.26012	0.000000	0.03702	0.068000	0.16541	0.429000	0.21412	-0.525000	0.06391	-0.213000	0.12676	AGG		PASS	0.502	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		45	156	45	156	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55582413	55582413	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr10:55582413A>T	ENST00000320301.6	-	33	5467	c.5073T>A	c.(5071-5073)agT>agA	p.S1691R	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1651R|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1688R|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.S1693R|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1668R|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1622R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1691					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.S1691R(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGCAGGAGAACTGATGACAT	0.423										HNSCC(58;0.16)																												uc001jju.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(5071-5073)AGT>AGA		protocadherin 15 isoform CD1-4 precursor							124.0	123.0	123.0					10																	55582413		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582413A>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5073T>A	10.37:g.55582413A>T	ENSP00000322604:p.Ser1691Arg	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.S1688R|PCDH15_uc010qhw.1_Missense_Mutation_p.S1651R|PCDH15_uc010qhx.1_Missense_Mutation_p.S1622R|PCDH15_uc010qhy.1_Missense_Mutation_p.S1698R|PCDH15_uc010qhz.1_Missense_Mutation_p.S1693R|PCDH15_uc010qia.1_Missense_Mutation_p.S1671R|PCDH15_uc010qib.1_Missense_Mutation_p.S1668R	p.S1691R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			33	5468	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1691			Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.5073T>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	7.816	0.716670	0.15306	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.56611	0.47;0.45;0.49;0.46;0.46;0.47	4.84	-2.3	0.06785	.	.	.	.	.	T	0.28300	0.0699	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;B;B	0.27625	0.183;0.001;0.001;0.0;0.016;0.001;0.0;0.001	B;B;B;B;B;B;B;B	0.25987	0.065;0.004;0.004;0.001;0.007;0.004;0.002;0.004	T	0.20672	-1.0268	9	0.72032	D	0.01	.	1.9565	0.03377	0.3697:0.1369:0.3594:0.134	.	1668;1691;1693;1698;1622;1651;1688;1691	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	R	1651;1693;1668;1691;1688;1698;1622	ENSP00000378820:S1651R;ENSP00000354950:S1693R;ENSP00000378821:S1668R;ENSP00000322604:S1691R;ENSP00000378818:S1688R;ENSP00000412628:S1622R	ENSP00000322604:S1691R	S	-	3	2	PCDH15	55252419	0.341000	0.24801	0.029000	0.17559	0.195000	0.23768	-0.087000	0.11215	-0.441000	0.07201	-1.100000	0.02121	AGT		PASS	0.423	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		36	128	36	128	---	---	---	---
MYPN	84665	broad.mit.edu	37	10	69881497	69881497	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr10:69881497C>A	ENST00000358913.5	+	2	790	c.302C>A	c.(301-303)tCt>tAt	p.S101Y	MYPN_ENST00000373675.3_Missense_Mutation_p.S101Y|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.S101Y	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	101	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.S101Y(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAACGACTTTCTCCTGATCAG	0.448																																						uc001jnm.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(301-303)TCT>TAT		myopalladin							50.0	49.0	50.0					10																	69881497		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69881497C>A	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.302C>A	10.37:g.69881497C>A	ENSP00000351790:p.Ser101Tyr					MYPN_uc001jnl.1_Missense_Mutation_p.S101Y|MYPN_uc001jnn.3_Intron|MYPN_uc001jno.3_Missense_Mutation_p.S101Y|MYPN_uc001jnp.1_Missense_Mutation_p.S101Y|MYPN_uc009xps.2_Missense_Mutation_p.S101Y|MYPN_uc009xpt.2_Missense_Mutation_p.S101Y|MYPN_uc010qit.1_5'UTR|MYPN_uc010qiu.1_RNA	p.S101Y	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			3	487	+			101			Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.302C>A	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726058	0.48833	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.63580	0.38;0.36;-0.05	5.76	5.76	0.90799	.	0.236333	0.44483	D	0.000445	T	0.73385	0.3580	L	0.56769	1.78	0.42919	D	0.994289	D;B	0.59767	0.986;0.003	P;B	0.57152	0.814;0.002	T	0.71213	-0.4659	9	.	.	.	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	101;101	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	Y	101	ENSP00000351790:S101Y;ENSP00000441668:S101Y;ENSP00000362779:S101Y	.	S	+	2	0	MYPN	69551503	0.949000	0.32298	1.000000	0.80357	0.956000	0.61745	1.687000	0.37680	2.713000	0.92767	0.655000	0.94253	TCT		PASS	0.448	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		47	120	47	120	---	---	---	---
MYPN	84665	broad.mit.edu	37	10	69881505	69881505	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr10:69881505C>G	ENST00000358913.5	+	2	798	c.310C>G	c.(310-312)Cag>Gag	p.Q104E	MYPN_ENST00000373675.3_Missense_Mutation_p.Q104E|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.Q104E	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	104	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.Q104E(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTCTCCTGATCAGATGAAACA	0.443																																						uc001jnm.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(310-312)CAG>GAG		myopalladin							49.0	48.0	49.0					10																	69881505		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69881505C>G	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.310C>G	10.37:g.69881505C>G	ENSP00000351790:p.Gln104Glu					MYPN_uc001jnl.1_Missense_Mutation_p.Q104E|MYPN_uc001jnn.3_Intron|MYPN_uc001jno.3_Missense_Mutation_p.Q104E|MYPN_uc001jnp.1_Missense_Mutation_p.Q104E|MYPN_uc009xps.2_Missense_Mutation_p.Q104E|MYPN_uc009xpt.2_Missense_Mutation_p.Q104E|MYPN_uc010qit.1_Translation_Start_Site|MYPN_uc010qiu.1_RNA	p.Q104E	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			3	495	+			104			Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.310C>G	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	6.872	0.530365	0.13127	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.60797	0.54;0.51;0.16	5.87	5.87	0.94306	.	0.436978	0.24659	N	0.036659	T	0.50956	0.1646	L	0.46157	1.445	0.24078	N	0.99596	B;B	0.19706	0.038;0.0	B;B	0.21151	0.033;0.0	T	0.35351	-0.9792	9	.	.	.	.	14.0891	0.64977	0.1502:0.8497:0.0:0.0	.	104;104	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	E	104	ENSP00000351790:Q104E;ENSP00000441668:Q104E;ENSP00000362779:Q104E	.	Q	+	1	0	MYPN	69551511	0.450000	0.25697	0.858000	0.33744	0.924000	0.55760	2.641000	0.46587	2.785000	0.95823	0.655000	0.94253	CAG		PASS	0.443	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		45	120	45	120	---	---	---	---
PGAP2	27315	broad.mit.edu	37	11	3845356	3845356	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr11:3845356G>C	ENST00000463452.2	+	3	492	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000496834.2_5'UTR|PGAP2_ENST00000300730.6_Missense_Mutation_p.E194Q|PGAP2_ENST00000396991.2_Missense_Mutation_p.E198Q|PGAP2_ENST00000396993.4_Missense_Mutation_p.R90P|PGAP2_ENST00000465307.2_Missense_Mutation_p.R140P|PGAP2_ENST00000479072.1_5'UTR|PGAP2_ENST00000396986.2_Missense_Mutation_p.E194Q|PGAP2_ENST00000278243.4_Missense_Mutation_p.E198Q|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000493547.2_Missense_Mutation_p.E137Q	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	137					GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.E198Q(1)|p.E194Q(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CTCCTCCTCCGAGGACTTCAG	0.607																																						uc001lys.2																			2	Substitution - Missense(2)		lung(2)		0						c.(592-594)GAG>CAG		FGF receptor activating protein 1 isoform 1							67.0	58.0	61.0					11																	3845356		2201	4298	6499	SO:0001583	missense	27315				GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity	g.chr11:3845356G>C	AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"""FGF receptor activating protein 1"", ""cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"""	615187	"""mental retardation, non-syndromic, autosomal recessive, 21"""	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.409G>C	11.37:g.3845356G>C	ENSP00000435223:p.Glu137Gln					PGAP2_uc001lyl.2_Missense_Mutation_p.E155Q|PGAP2_uc010qxw.1_Missense_Mutation_p.E255Q|PGAP2_uc010qxx.1_Missense_Mutation_p.R178P|PGAP2_uc001lyp.3_Intron|PGAP2_uc010qxy.1_Missense_Mutation_p.E194Q|PGAP2_uc010qxz.1_Missense_Mutation_p.E194Q|PGAP2_uc001lyn.3_Missense_Mutation_p.R90P|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_Missense_Mutation_p.E137Q|PGAP2_uc010qyb.1_Missense_Mutation_p.R140P|PGAP2_uc001lyt.2_5'UTR	p.E198Q	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN			4	718	+			198					E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Missense_Mutation	SNP	ENST00000463452.2	37	c.592G>C	CCDS58112.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.30|12.30	1.897535|1.897535	0.33535|0.33535	.|.	.|.	ENSG00000148985|ENSG00000148985	ENST00000396986;ENST00000300730;ENST00000396991;ENST00000464261;ENST00000493547;ENST00000278243;ENST00000463452;ENST00000469307|ENST00000396993;ENST00000532523;ENST00000465307	T;T;T;T;T;T;T;T|.	0.47869|.	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80696|0.80696	0.4672|0.4672	M|M	0.83483|0.83483	2.645|2.645	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D|D;D	0.89917|0.89917	1.0;1.0;1.0;0.999;1.0|1.0;1.0	D;D;D;D;D|D;D	0.97110|0.97110	1.0;0.998;1.0;0.966;0.998|0.999;1.0	T|T	0.83058|0.83058	-0.0149|-0.0149	10|8	0.66056|0.87932	D|D	0.02|0	-15.7706|-15.7706	15.3348|15.3348	0.74244|0.74244	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	194;137;198;137;137|140;90	A8MYS5;Q9UHJ9-3;Q9UHJ9;E9PJG5;Q9UHJ9-2|B7Z2X5;A8MZF5	.;.;PGAP2_HUMAN;.;.|.;.	Q|P	194;194;198;167;137;198;137;137|90;155;140	ENSP00000380183:E194Q;ENSP00000300730:E194Q;ENSP00000380188:E198Q;ENSP00000434088:E167Q;ENSP00000431851:E137Q;ENSP00000278243:E198Q;ENSP00000435223:E137Q;ENSP00000434507:E137Q|.	ENSP00000278243:E198Q|ENSP00000380190:R90P	E|R	+|+	1|2	0|0	PGAP2|PGAP2	3801932|3801932	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.588000|0.588000	0.36517|0.36517	8.738000|8.738000	0.91569|0.91569	2.682000|2.682000	0.91365|0.91365	0.650000|0.650000	0.86243|0.86243	GAG|CGA		PASS	0.607	PGAP2-049	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383260.1			10	42	10	42	---	---	---	---
KIF18A	81930	broad.mit.edu	37	11	28058212	28058212	+	Splice_Site	SNP	C	C	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr11:28058212C>A	ENST00000263181.6	-	14	2239		c.e14-1			NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.?(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GAAGATGAGCCTATTCAAAAA	0.318																																						uc001msc.2																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e14-1		kinesin family member 18A							33.0	33.0	33.0					11																	28058212		2201	4293	6494	SO:0001630	splice_region_variant	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28058212C>A	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.1949-1G>T	11.37:g.28058212C>A							p.C650_splice	NM_031217	NP_112494	Q8NI77	KI18A_HUMAN			14	2131	-								Q4VPE3|Q86VS5|Q9H0F3	Splice_Site	SNP	ENST00000263181.6	37	c.1949_splice	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336591	0.41398	.	.	ENSG00000121621	ENST00000263181	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9339	0.89007	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF18A	28014788	1.000000	0.71417	0.997000	0.53966	0.294000	0.27393	3.990000	0.56965	2.835000	0.97688	0.650000	0.86243	.		PASS	0.318	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217	Intron	9	38	9	38	---	---	---	---
OR5R1	219479	broad.mit.edu	37	11	56184914	56184914	+	Silent	SNP	A	A	G			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr11:56184914A>G	ENST00000312253.1	-	1	794	c.795T>C	c.(793-795)aaT>aaC	p.N265N		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N265N(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CCAAGGAGTGATTTGATTTGG	0.433																																						uc010rji.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(793-795)AAT>AAC		olfactory receptor, family 5, subfamily R,							172.0	163.0	166.0					11																	56184914		2201	4296	6497	SO:0001819	synonymous_variant	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56184914A>G	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.795T>C	11.37:g.56184914A>G							p.N265N	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN			1	795	-	Esophageal squamous(21;0.00448)		265			Extracellular (Potential).			Silent	SNP	ENST00000312253.1	37	c.795T>C	CCDS31530.1																																																																																				PASS	0.433	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		44	195	44	195	---	---	---	---
PYGM	5837	broad.mit.edu	37	11	64519091	64519091	+	Missense_Mutation	SNP	C	C	T	rs373190458		TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr11:64519091C>T	ENST00000164139.3	-	15	2203	c.1805G>A	c.(1804-1806)cGg>cAg	p.R602Q	PYGM_ENST00000462303.1_5'UTR|PYGM_ENST00000377432.3_Missense_Mutation_p.R514Q	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	602			R -> W (in GSD5). {ECO:0000269|PubMed:11706962}.		carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)	p.R602Q(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CATCACAGTCCGAGGCACAAA	0.552																																						uc001oax.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2	GRCh37	CM022981	PYGM	M		c.(1804-1806)CGG>CAG		muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)	C	GLN/ARG,GLN/ARG	0,4402		0,0,2201	86.0	87.0	86.0		1541,1805	5.2	1.0	11		86	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	PYGM	NM_001164716.1,NM_005609.2	43,43	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	514/755,602/843	64519091	1,12995	2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64519091C>T		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1805G>A	11.37:g.64519091C>T	ENSP00000164139:p.Arg602Gln					PYGM_uc001oay.3_Missense_Mutation_p.R514Q	p.R602Q	NM_005609	NP_005600	P11217	PYGM_HUMAN			15	2622	-			602		R -> W (in GSD5).			A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.1805G>A	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	36	5.618147	0.96649	0.0	1.16E-4	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.94537	-3.45;-3.45	5.25	5.25	0.73442	.	0.000000	0.48767	D	0.000169	D	0.97673	0.9237	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.98177	1.0455	10	0.72032	D	0.01	-17.0283	16.3883	0.83523	0.0:1.0:0.0:0.0	.	514;602	A6NDY6;P11217	.;PYGM_HUMAN	Q	514;602;583	ENSP00000366650:R514Q;ENSP00000164139:R602Q	ENSP00000164139:R602Q	R	-	2	0	PYGM	64275667	0.643000	0.27269	0.998000	0.56505	0.993000	0.82548	3.778000	0.55371	2.739000	0.93911	0.561000	0.74099	CGG		PASS	0.552	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		23	137	23	137	---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116728678	116728678	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr11:116728678C>T	ENST00000292055.4	-	20	3220	c.3185G>A	c.(3184-3186)gGt>gAt	p.G1062D	SIK3_ENST00000375288.1_Missense_Mutation_p.G397D|SIK3_ENST00000375300.1_Missense_Mutation_p.G1120D|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000542607.1_Missense_Mutation_p.G1002D|SIK3_ENST00000446921.2_Missense_Mutation_p.G1060D|SIK3_ENST00000434315.2_Missense_Mutation_p.G901D|SIK3_ENST00000488337.1_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1062					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.G1168D(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GTCATGGCAACCTTTGGTCAA	0.537																																						uc001ppy.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						c.(3184-3186)GGT>GAT		serine/threonine-protein kinase QSK							96.0	95.0	96.0					11																	116728678		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116728678C>T	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.3185G>A	11.37:g.116728678C>T	ENSP00000292055:p.Gly1062Asp					SIK3_uc001ppz.2_Missense_Mutation_p.G901D|SIK3_uc001pqa.2_Missense_Mutation_p.G1002D|SIK3_uc001ppw.2_Missense_Mutation_p.G419D|SIK3_uc001ppx.2_Missense_Mutation_p.G440D|SIK3_uc001pqb.2_Missense_Mutation_p.G365D	p.G1062D	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN			20	3221	-			1062					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.3185G>A	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	C	9.873	1.199596	0.22121	.	.	ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.54	3.62	0.41486	.	0.168155	0.27668	U	0.018344	T	0.23210	0.0561	L	0.27053	0.805	0.40411	D	0.979741	B;P;P;B;B	0.41748	0.328;0.761;0.56;0.22;0.449	B;B;B;B;B	0.41236	0.351;0.25;0.312;0.134;0.202	T	0.03910	-1.0993	10	0.72032	D	0.01	.	10.0488	0.42203	0.0:0.532:0.3972:0.0707	.	1062;1002;901;1062;397	Q9Y2K2-3;A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2	.;.;.;SIK3_HUMAN;.	D	1120;1062;397;1002;901	ENSP00000364449:G1120D;ENSP00000292055:G1062D;ENSP00000364437:G397D;ENSP00000438108:G1002D;ENSP00000415873:G901D	ENSP00000292055:G1062D	G	-	2	0	SIK3	116233888	0.999000	0.42202	1.000000	0.80357	0.277000	0.26821	1.041000	0.30291	0.647000	0.30713	0.563000	0.77884	GGT		PASS	0.537	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		7	153	7	153	---	---	---	---
OR8B8	26493	broad.mit.edu	37	11	124310149	124310149	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr11:124310149T>A	ENST00000328064.2	-	1	905	c.833A>T	c.(832-834)tAt>tTt	p.Y278F		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	278					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y278F(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CACAGTGGTATAGAATAGGGA	0.408																																						uc010sal.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(832-834)TAT>TTT		olfactory receptor, family 8, subfamily B,							96.0	87.0	90.0					11																	124310149		2201	4299	6500	SO:0001583	missense	26493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124310149T>A	AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.833A>T	11.37:g.124310149T>A	ENSP00000330280:p.Tyr278Phe						p.Y278F	NM_012378	NP_036510	Q15620	OR8B8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	833	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	278			Helical; Name=7; (Potential).		A1L446|Q96RC8	Missense_Mutation	SNP	ENST00000328064.2	37	c.833A>T	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.529112	0.44969	.	.	ENSG00000197125	ENST00000328064	T	0.00305	8.18	3.81	2.68	0.31781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41938	D	0.000796	T	0.00666	0.0022	M	0.87827	2.91	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.29058	-1.0024	10	0.72032	D	0.01	.	9.2315	0.37439	0.0:0.0892:0.0:0.9108	.	278	Q15620	OR8B8_HUMAN	F	278	ENSP00000330280:Y278F	ENSP00000330280:Y278F	Y	-	2	0	OR8B8	123815359	0.814000	0.29104	0.801000	0.32222	0.708000	0.40852	2.831000	0.48144	0.820000	0.34516	0.533000	0.62120	TAT		PASS	0.408	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378		40	119	40	119	---	---	---	---
PUS7L	83448	broad.mit.edu	37	12	44136321	44136321	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr12:44136321A>C	ENST00000416848.2	-	5	1789	c.1301T>G	c.(1300-1302)tTt>tGt	p.F434C	PUS7L_ENST00000431332.3_Missense_Mutation_p.F121C|PUS7L_ENST00000344862.5_Missense_Mutation_p.F434C|RP11-210N13.1_ENST00000548437.1_RNA|PUS7L_ENST00000551923.1_Missense_Mutation_p.F434C	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	434	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.F434C(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TCCCTTCCCAAATCTCTGTGG	0.313																																						uc001rnq.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1300-1302)TTT>TGT		pseudouridylate synthase 7 homolog (S.							141.0	133.0	136.0					12																	44136321		2203	4300	6503	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44136321A>C	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.1301T>G	12.37:g.44136321A>C	ENSP00000415899:p.Phe434Cys					PUS7L_uc001rnr.3_Missense_Mutation_p.F434C|PUS7L_uc001rns.3_Missense_Mutation_p.F434C|PUS7L_uc009zkb.2_Missense_Mutation_p.F121C	p.F434C	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	5	1790	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	434			TRUD.		B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.1301T>G	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.116570	0.77323	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000431332;ENST00000550784;ENST00000547156	T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	4.72	4.72	0.59763	Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase, TruD, insertion domain (1);	0.113655	0.64402	D	0.000008	D	0.90232	0.6946	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93332	0.6702	10	0.87932	D	0	-4.4776	14.8969	0.70651	1.0:0.0:0.0:0.0	.	434	Q9H0K6	PUS7L_HUMAN	C	434;434;434;121;121;121	ENSP00000415899:F434C;ENSP00000343081:F434C;ENSP00000447706:F434C;ENSP00000398497:F121C;ENSP00000449222:F121C;ENSP00000450341:F121C	ENSP00000343081:F434C	F	-	2	0	PUS7L	42422588	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.471000	0.90403	2.061000	0.61500	0.383000	0.25322	TTT		PASS	0.313	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		48	160	48	160	---	---	---	---
SLC38A2	54407	broad.mit.edu	37	12	46756368	46756368	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr12:46756368C>A	ENST00000256689.5	-	14	1677	c.1233G>T	c.(1231-1233)tgG>tgT	p.W411C	SLC38A2_ENST00000547252.1_5'Flank|SLC38A2_ENST00000551374.1_Missense_Mutation_p.W249C	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	411					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)	p.W411C(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		GACTATGACGCCACCAACTGA	0.323																																					Ovarian(9;448 492 8335 28722 40361)	uc001rpg.2																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|skin(1)	2						c.(1231-1233)TGG>TGT		solute carrier family 38, member 2							97.0	93.0	94.0					12																	46756368		2203	4299	6502	SO:0001583	missense	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46756368C>A	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.1233G>T	12.37:g.46756368C>A	ENSP00000256689:p.Trp411Cys					SLC38A2_uc010sli.1_Missense_Mutation_p.W249C|SLC38A2_uc001rph.2_Missense_Mutation_p.W311C	p.W411C	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	14	1673	-	Lung SC(27;0.192)|Renal(347;0.236)		411			Cytoplasmic (Potential).		Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	ENST00000256689.5	37	c.1233G>T	CCDS8749.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301355	0.23736	.	.	ENSG00000134294	ENST00000256689;ENST00000551374	T;T	0.02258	4.37;4.37	5.79	4.88	0.63580	.	0.565987	0.20566	N	0.089810	T	0.04543	0.0124	L	0.32530	0.975	0.51482	D	0.999924	B;P;P	0.42296	0.002;0.687;0.775	B;P;P	0.49140	0.008;0.601;0.537	T	0.58098	-0.7696	10	0.36615	T	0.2	-0.71	15.0285	0.71687	0.0:0.7207:0.2793:0.0	.	249;311;411	F8VQW8;Q96QD8-2;Q96QD8	.;.;S38A2_HUMAN	C	411;249	ENSP00000256689:W411C;ENSP00000450406:W249C	ENSP00000256689:W411C	W	-	3	0	SLC38A2	45042635	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	0.937000	0.28951	1.410000	0.46936	0.650000	0.86243	TGG		PASS	0.323	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			24	101	24	101	---	---	---	---
EIF4B	1975	broad.mit.edu	37	12	53421697	53421697	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr12:53421697G>C	ENST00000262056.9	+	7	1125	c.799G>C	c.(799-801)Gat>Cat	p.D267H	EIF4B_ENST00000420463.3_Missense_Mutation_p.D267H|EIF4B_ENST00000416762.3_Missense_Mutation_p.D228H|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	267	Arg-rich.|Asp-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)	p.D267H(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CAGAGACTATGATAGAGGTAA	0.463																																						uc001sbh.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|kidney(1)	2						c.(799-801)GAT>CAT		eukaryotic translation initiation factor 4B							73.0	72.0	72.0					12																	53421697		1918	4125	6043	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53421697G>C	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.799G>C	12.37:g.53421697G>C	ENSP00000262056:p.Asp267His					EIF4B_uc009zmp.1_RNA|EIF4B_uc010snu.1_Missense_Mutation_p.D267H|EIF4B_uc010snv.1_Missense_Mutation_p.D228H|EIF4B_uc001sbi.2_Missense_Mutation_p.D19H	p.D267H	NM_001417	NP_001408	P23588	IF4B_HUMAN			7	1005	+			267			Arg-rich.|Asp-rich.		Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.799G>C	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293118	0.60086	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481	T;T;T	0.52295	0.7;0.69;0.67	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	M	0.62723	1.935	0.48696	D	0.999697	D;D;D;D	0.69078	0.995;0.991;0.997;0.991	D;P;D;P	0.65773	0.938;0.869;0.936;0.869	T	0.56092	-0.8036	10	0.14252	T	0.57	.	16.9263	0.86177	0.0:0.0:1.0:0.0	.	228;267;243;267	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	H	267;267;243;228;222	ENSP00000262056:D267H;ENSP00000388806:D267H;ENSP00000449746:D222H	ENSP00000262056:D267H	D	+	1	0	EIF4B	51707964	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	6.980000	0.76160	2.497000	0.84241	0.655000	0.94253	GAT		PASS	0.463	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		43	103	43	103	---	---	---	---
HAL	3034	broad.mit.edu	37	12	96379721	96379721	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr12:96379721C>T	ENST00000261208.3	-	14	1539	c.1171G>A	c.(1171-1173)Gtc>Atc	p.V391I	HAL_ENST00000538703.1_Missense_Mutation_p.V391I|HAL_ENST00000541929.1_Missense_Mutation_p.V183I	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	391					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|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)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)	p.V391I(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GCATCCTGGACGCGATCACAG	0.418																																					NSCLC(169;943 2815 23563 30031)	uc001tem.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1171-1173)GTC>ATC		histidine ammonia-lyase	L-Histidine(DB00117)						89.0	78.0	82.0					12																	96379721		2203	4300	6503	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96379721C>T		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1171G>A	12.37:g.96379721C>T	ENSP00000261208:p.Val391Ile					HAL_uc009zti.1_RNA|HAL_uc010suw.1_Missense_Mutation_p.V183I|HAL_uc010sux.1_Missense_Mutation_p.V391I	p.V391I	NM_002108	NP_002099	P42357	HUTH_HUMAN			14	1468	-			391					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.1171G>A	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735548	0.89482	.	.	ENSG00000084110	ENST00000261208;ENST00000541929;ENST00000538703	T;T;T	0.78707	-1.2;-1.2;-1.2	5.51	5.51	0.81932	L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.86306	0.5901	M	0.67953	2.075	0.80722	D	1	D;D	0.58268	0.982;0.973	P;P	0.60949	0.704;0.881	D	0.87022	0.2129	10	0.66056	D	0.02	-19.35	19.4223	0.94726	0.0:1.0:0.0:0.0	.	391;391	F5GXF2;P42357	.;HUTH_HUMAN	I	391;183;391	ENSP00000261208:V391I;ENSP00000446364:V183I;ENSP00000440861:V391I	ENSP00000261208:V391I	V	-	1	0	HAL	94903852	1.000000	0.71417	0.991000	0.47740	0.473000	0.32948	5.782000	0.68973	2.597000	0.87782	0.591000	0.81541	GTC		PASS	0.418	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			6	101	6	101	---	---	---	---
PITPNM2	57605	broad.mit.edu	37	12	123481933	123481933	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr12:123481933G>A	ENST00000542749.1	-	9	1474	c.1411C>T	c.(1411-1413)Ctt>Ttt	p.L471F	PITPNM2_ENST00000392428.1_Missense_Mutation_p.L192F|PITPNM2_ENST00000280562.5_Missense_Mutation_p.L471F|PITPNM2_ENST00000320201.4_Missense_Mutation_p.L471F|PITPNM2_ENST00000451868.2_5'Flank			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	471					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)	p.L471F(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CGGATGGCAAGGCGGCCCAGG	0.667																																						uc001uej.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1411-1413)CTT>TTT		phosphatidylinositol transfer protein,							90.0	87.0	88.0					12																	123481933		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123481933G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1411C>T	12.37:g.123481933G>A	ENSP00000437611:p.Leu471Phe					PITPNM2_uc001uek.1_Missense_Mutation_p.L471F	p.L471F	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	10	1550	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		471					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.1411C>T	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052434	0.75960	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	4.83	3.85	0.44370	.	0.073570	0.52532	D	0.000067	T	0.18551	0.0445	L	0.27053	0.805	0.44937	D	0.997957	P;P	0.52577	0.837;0.954	P;P	0.47206	0.541;0.478	T	0.01266	-1.1401	10	0.87932	D	0	-19.6614	10.0738	0.42349	0.0:0.0:0.5289:0.4711	.	471;471	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	F	471;471;192;471	ENSP00000280562:L471F;ENSP00000322218:L471F;ENSP00000376223:L192F;ENSP00000437611:L471F	ENSP00000280562:L471F	L	-	1	0	PITPNM2	122047886	1.000000	0.71417	0.883000	0.34634	0.852000	0.48524	5.520000	0.67080	2.235000	0.73313	0.563000	0.77884	CTT		PASS	0.667	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		12	97	12	97	---	---	---	---
ATG14	22863	broad.mit.edu	37	14	55878363	55878363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr14:55878363G>A	ENST00000247178.5	-	1	213	c.178C>T	c.(178-180)Cag>Tag	p.Q60*		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	60					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)		p.Q60*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						TCGCCGCTCTGAACGCATTTG	0.662																																						uc001xbx.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(178-180)CAG>TAG		Barkor							16.0	20.0	18.0					14																	55878363		2197	4296	6493	SO:0001587	stop_gained	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55878363G>A	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.178C>T	14.37:g.55878363G>A	ENSP00000247178:p.Gln60*					FBXO34_uc001xbv.2_Intron	p.Q60*	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN			1	214	-			60					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Nonsense_Mutation	SNP	ENST00000247178.5	37	c.178C>T	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	G	38	6.949702	0.97956	.	.	ENSG00000126775	ENST00000247178	.	.	.	5.27	5.27	0.74061	.	0.130504	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-24.0426	18.0568	0.89365	0.0:0.0:1.0:0.0	.	.	.	.	X	60	.	ENSP00000247178:Q60X	Q	-	1	0	ATG14	54948116	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.639000	0.74314	2.742000	0.94016	0.655000	0.94253	CAG		PASS	0.662	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		8	13	8	13	---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65218954	65218954	+	Intron	SNP	C	C	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr14:65218954C>T	ENST00000556626.1	-	33	6745				SPTB_ENST00000389722.3_Intron|SPTB_ENST00000342835.4_Intron			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic						actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCTGCATTTCTACAGCAACA	0.527																																						uc010aqi.2																			0				ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(2665-2667)GAA>AAA		spectrin beta isoform a							27.0	26.0	26.0					14																	65218954		876	1991	2867	SO:0001627	intron_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65218954C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000556626.1:c.6602+1300G>A	14.37:g.65218954C>T						SPTB_uc001xhr.2_Intron|SPTB_uc001xhs.2_Intron	p.E889K	NM_001024858	NP_001020029	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	15	2680	-		all_lung(585;4.15e-09)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q15510|Q15519	Missense_Mutation	SNP	ENST00000556626.1	37	c.2665G>A	CCDS32099.1	.	.	.	.	.	.	.	.	.	.	C	4.205	0.036822	0.08148	.	.	ENSG00000070182	ENST00000335612;ENST00000553938	T	0.60299	0.2	2.89	-0.932	0.10435	.	.	.	.	.	T	0.37892	0.1020	.	.	.	0.09310	N	1	P	0.36086	0.536	B	0.33960	0.173	T	0.20538	-1.0272	8	0.42905	T	0.14	.	3.0152	0.06057	0.0:0.2882:0.2337:0.4782	.	1012	E7EV95	.	K	1012;893	ENSP00000451324:E893K	ENSP00000334218:E1012K	E	-	1	0	SPTB	64288707	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.152000	0.16302	-0.189000	0.10482	-1.080000	0.02220	GAA		PASS	0.527	SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414076.1			10	16	10	16	---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65219028	65219028	+	Intron	SNP	C	C	G			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr14:65219028C>G	ENST00000556626.1	-	33	6745				SPTB_ENST00000389722.3_Intron|SPTB_ENST00000342835.4_Intron			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic						actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		tccctcttctccctTACTTTT	0.512																																						uc010aqi.2																			0				ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(2590-2592)GGA>GCA		spectrin beta isoform a							11.0	10.0	10.0					14																	65219028		872	1987	2859	SO:0001627	intron_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65219028C>G		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000556626.1:c.6602+1226G>C	14.37:g.65219028C>G						SPTB_uc001xhr.2_Intron|SPTB_uc001xhs.2_Intron	p.G864A	NM_001024858	NP_001020029	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	15	2606	-		all_lung(585;4.15e-09)	Error:Variant_position_missing_in_P11277_after_alignment					Q15510|Q15519	Missense_Mutation	SNP	ENST00000556626.1	37	c.2591G>C	CCDS32099.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.945511	0.00475	.	.	ENSG00000070182	ENST00000335612;ENST00000553938	T	0.57752	0.38	2.66	0.213	0.15244	.	.	.	.	.	T	0.33381	0.0861	.	.	.	0.09310	N	0.999997	B	0.09022	0.002	B	0.04013	0.001	T	0.17930	-1.0353	8	0.32370	T	0.25	.	4.7223	0.12924	0.0:0.5752:0.0:0.4248	.	987	E7EV95	.	A	987;868	ENSP00000451324:G868A	ENSP00000334218:G987A	G	-	2	0	SPTB	64288781	0.000000	0.05858	0.016000	0.15963	0.151000	0.21798	-0.225000	0.09151	0.047000	0.15862	0.655000	0.94253	GGA		PASS	0.512	SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414076.1			6	9	6	9	---	---	---	---
RIN3	79890	broad.mit.edu	37	14	93142874	93142874	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr14:93142874G>A	ENST00000216487.7	+	8	2549	c.2390G>A	c.(2389-2391)cGc>cAc	p.R797H	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	797	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R797H(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GTGCTGGCCCGCAGCAACCTC	0.602																																						uc001yap.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(2389-2391)CGC>CAC		Ras and Rab interactor 3							93.0	83.0	86.0					14																	93142874		2203	4300	6503	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93142874G>A	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.2390G>A	14.37:g.93142874G>A	ENSP00000216487:p.Arg797His					RIN3_uc010auk.2_Missense_Mutation_p.R459H|RIN3_uc001yaq.2_Missense_Mutation_p.R722H|RIN3_uc001yas.1_Missense_Mutation_p.R459H	p.R797H	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			8	2542	+		all_cancers(154;0.0701)	797			VPS9.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.2390G>A	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348833	0.82132	.	.	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.33865	1.39	4.66	4.66	0.58398	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.85682	D	0.000000	T	0.52468	0.1736	L	0.39245	1.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.983;0.995;0.991	T	0.56932	-0.7897	10	0.72032	D	0.01	-16.5159	17.5653	0.87918	0.0:0.0:1.0:0.0	.	797;722;797	Q8TB24-4;Q6ZRC2;Q8TB24	.;.;RIN3_HUMAN	H	797;721	ENSP00000216487:R797H	ENSP00000216487:R797H	R	+	2	0	RIN3	92212627	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.857000	0.86963	2.140000	0.66376	0.313000	0.20887	CGC		PASS	0.602	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			15	97	15	97	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102445718	102445718	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr14:102445718G>A	ENST00000360184.4	+	3	571	c.407G>A	c.(406-408)cGg>cAg	p.R136Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	136	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.R136Q(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCTCAGCTCCGGGTCCTTACA	0.403																																						uc001yks.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(406-408)CGG>CAG		cytoplasmic dynein 1 heavy chain 1							114.0	114.0	114.0					14																	102445718		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102445718G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.407G>A	14.37:g.102445718G>A	ENSP00000348965:p.Arg136Gln						p.R136Q	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			3	571	+			136			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.407G>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	9.157	1.017631	0.19355	.	.	ENSG00000197102	ENST00000360184	T	0.26223	1.75	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.22513	0.0543	L	0.35854	1.095	0.80722	D	1	B	0.19935	0.04	B	0.12156	0.007	T	0.08889	-1.0700	10	0.10111	T	0.7	.	19.7907	0.96456	0.0:0.0:1.0:0.0	.	136	Q14204	DYHC1_HUMAN	Q	136	ENSP00000348965:R136Q	ENSP00000348965:R136Q	R	+	2	0	DYNC1H1	101515471	1.000000	0.71417	0.954000	0.39281	0.410000	0.31052	9.441000	0.97557	2.686000	0.91538	0.491000	0.48974	CGG		PASS	0.403	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		48	233	48	233	---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31334348	31334348	+	Silent	SNP	C	C	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr15:31334348C>T	ENST00000256552.6	-	17	2040	c.1893G>A	c.(1891-1893)caG>caA	p.Q631Q	TRPM1_ENST00000542188.1_Silent_p.Q648Q|TRPM1_ENST00000397795.2_Silent_p.Q609Q|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.Q609Q(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAAGGGATACTGGAACCGAC	0.527																																						uc001zfm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1825-1827)CAG>CAA		transient receptor potential cation channel,							68.0	75.0	73.0					15																	31334348		2177	4286	6463	SO:0001819	synonymous_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31334348C>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1893G>A	15.37:g.31334348C>T						TRPM1_uc010azy.2_Silent_p.Q516Q|TRPM1_uc001zfl.2_RNA	p.Q609Q	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	16	1955	-		all_lung(180;1.92e-11)	609			Cytoplasmic (Potential).			Silent	SNP	ENST00000256552.6	37	c.1827G>A	CCDS58346.1																																																																																				PASS	0.527	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		11	16	11	16	---	---	---	---
TYRO3	7301	broad.mit.edu	37	15	41862298	41862298	+	Silent	SNP	G	G	A	rs373237575		TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr15:41862298G>A	ENST00000263798.3	+	10	1550	c.1326G>A	c.(1324-1326)acG>acA	p.T442T	TYRO3_ENST00000559066.1_Silent_p.T397T	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	442					apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T442T(1)|p.T434T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCCTGGTGACGGCTGCTGCCC	0.612																																						uc001zof.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|central_nervous_system(1)	6						c.(1324-1326)ACG>ACA		TYRO3 protein tyrosine kinase precursor		G		1,4405		0,1,2202	64.0	60.0	61.0		1326	-10.2	0.5	15		61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TYRO3	NM_006293.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		442/891	41862298	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41862298G>A	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1326G>A	15.37:g.41862298G>A							p.T442T	NM_006293	NP_006284	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	10	1550	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	442			Helical; (Potential).		O14953|Q86VR3	Silent	SNP	ENST00000263798.3	37	c.1326G>A	CCDS10080.1																																																																																				PASS	0.612	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			9	64	9	64	---	---	---	---
AP3S2	10239	broad.mit.edu	37	15	90378852	90378852	+	Silent	SNP	C	C	A	rs112739850	byFrequency	TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr15:90378852C>A	ENST00000336418.4	-	6	869	c.477G>T	c.(475-477)gcG>gcT	p.A159A	C15orf38-AP3S2_ENST00000398333.3_Silent_p.A360A|AP3S2_ENST00000560940.1_Intron|AP3S2_ENST00000560771.1_5'UTR|AP3S2_ENST00000558011.1_Silent_p.A171A	NM_005829.4	NP_005820.1	P59780	AP3S2_HUMAN	adaptor-related protein complex 3, sigma 2 subunit	159					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)	p.A159A(1)		NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			ACACAGCCCGCGCAGGGGCTG	0.438																																						uc002boq.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(475-477)GCG>GCT		adaptor-related protein complex 3, sigma 2							109.0	107.0	108.0					15																	90378852		2200	4299	6499	SO:0001819	synonymous_variant	10239				intracellular protein transport|vesicle-mediated transport	cytoplasmic vesicle membrane|Golgi apparatus|membrane coat	protein transporter activity	g.chr15:90378852C>A	X99459	CCDS10357.1	15q26.1	2010-08-13			ENSG00000157823	ENSG00000157823			571	protein-coding gene	gene with protein product		602416				9118953	Standard	NM_005829		Approved	sigma3b		P59780	OTTHUMG00000149811	ENST00000336418.4:c.477G>T	15.37:g.90378852C>A						AP3S2_uc002bos.3_Silent_p.A360A|AP3S2_uc010bns.2_RNA|AP3S2_uc002bor.3_RNA|AP3S2_uc010bnt.2_RNA	p.A159A	NM_005829	NP_005820	P59780	AP3S2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)		6	913	-	Lung NSC(78;0.0181)|all_lung(78;0.0384)		159					B2R677|B4DGQ3|O09077|O09149|Q53H83|Q99589	Silent	SNP	ENST00000336418.4	37	c.477G>T	CCDS10357.1																																																																																				PASS	0.438	AP3S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313422.1			54	121	54	121	---	---	---	---
SPNS1	83985	broad.mit.edu	37	16	28992923	28992923	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr16:28992923G>T	ENST00000311008.11	+	6	1173	c.796G>T	c.(796-798)Gct>Tct	p.A266S	RP11-264B17.4_ENST00000567209.1_RNA|SPNS1_ENST00000561868.1_3'UTR|SPNS1_ENST00000334536.8_Missense_Mutation_p.A266S|SPNS1_ENST00000352260.7_Missense_Mutation_p.A244S|SPNS1_ENST00000565975.1_Missense_Mutation_p.A311S|SPNS1_ENST00000323081.8_Missense_Mutation_p.A193S|RP11-264B17.3_ENST00000569969.1_RNA	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	266					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)		p.A266S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						AGATCTGAGGGCTCTGGCAAG	0.602											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010vdi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(796-798)GCT>TCT		spinster homolog 1 isoform 1							73.0	77.0	76.0					16																	28992923		2197	4300	6497	SO:0001583	missense	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28992923G>T	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.796G>T	16.37:g.28992923G>T	ENSP00000309945:p.Ala266Ser		OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	806	uc010vct.1_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.A193S|SPNS1_uc002dsa.2_Missense_Mutation_p.A266S|SPNS1_uc002drz.2_Missense_Mutation_p.A266S|SPNS1_uc010byp.2_Missense_Mutation_p.A244S|SPNS1_uc010byq.1_Missense_Mutation_p.A198S	p.A266S	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN			7	936	+			266					B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	ENST00000311008.11	37	c.796G>T	CCDS10646.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044155	0.55110	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	4.91	4.91	0.64330	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.52725	0.1752	L	0.46670	1.46	0.58432	D	0.999998	B;B;B;B	0.32620	0.014;0.033;0.018;0.378	B;B;B;B	0.36808	0.03;0.049;0.034;0.233	T	0.47522	-0.9111	10	0.20519	T	0.43	.	15.6352	0.76946	0.0:0.0:1.0:0.0	.	193;244;266;266	Q9H2V7-4;Q9H2V7-3;Q9H2V7;Q9H2V7-2	.;.;SPNS1_HUMAN;.	S	266;266;244;193	ENSP00000309945:A266S;ENSP00000335494:A266S;ENSP00000306050:A244S;ENSP00000318228:A193S	ENSP00000309945:A266S	A	+	1	0	SPNS1	28900424	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.227000	0.65305	2.557000	0.86248	0.655000	0.94253	GCT		PASS	0.602	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		9	158	9	158	---	---	---	---
ITGAE	3682	broad.mit.edu	37	17	3704418	3704418	+	Silent	SNP	C	C	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr17:3704418C>A	ENST00000263087.4	-	1	119	c.21G>T	c.(19-21)ctG>ctT	p.L7L	CTD-3195I5.5_ENST00000572988.1_lincRNA	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	7					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.L7L(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CTATGCAGAGCAGAGTGTGGA	0.627																																					NSCLC(182;635 2928 8995 38788)	uc002fwo.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|breast(1)|pancreas(1)	4						c.(19-21)CTG>CTT		integrin, alpha E precursor							84.0	71.0	75.0					17																	3704418		2203	4300	6503	SO:0001819	synonymous_variant	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3704418C>A	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.21G>T	17.37:g.3704418C>A							p.L7L	NM_002208	NP_002199	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	1	120	-			7					Q17RS6|Q9NZU9	Silent	SNP	ENST00000263087.4	37	c.21G>T	CCDS32531.1																																																																																				PASS	0.627	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		18	20	18	20	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	A	rs55863639		TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr17:7579312C>A	ENST00000269305.4	-	4	564	c.375G>T	c.(373-375)acG>acT	p.T125T	TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000420246.2_Splice_Site_p.T125T|TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site_p.T125T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAACTGACCGTGCAAGTCA	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		66	Substitution - coding silent(51)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Insertion - In frame(1)	p.T125T(15)|p.0?(7)|p.T125M(7)|p.T125K(3)|p.T125R(3)|p.?(2)|p.V73fs*9(1)|p.T125P(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.T125fs*45(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(21)|haematopoietic_and_lymphoid_tissue(14)|large_intestine(8)|upper_aerodigestive_tract(7)|bone(4)|central_nervous_system(3)|biliary_tract(3)|stomach(1)|liver(1)|urinary_tract(1)|kidney(1)|ovary(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CS004351|CS011573|CS971913	TP53	S	rs55863639	c.(373-375)ACG>ACT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							66.0	61.0	63.0					17																	7579312		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579312C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.375+1G>T	17.37:g.7579312C>A		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Silent_p.T125T|TP53_uc002gih.2_Silent_p.T125T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Silent_p.T125T|TP53_uc010cni.1_Silent_p.T125T|TP53_uc002gij.2_Silent_p.T125T|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Silent_p.T86T|TP53_uc010cnk.1_Silent_p.T140T	p.T125T	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	569	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	125		T -> A (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent	SNP	ENST00000269305.4	37	c.375G>T	CCDS11118.1																																																																																				PASS	0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent	31	55	31	55	---	---	---	---
RARA	5914	broad.mit.edu	37	17	38510742	38510742	+	Silent	SNP	C	C	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr17:38510742C>T	ENST00000254066.5	+	7	1451	c.996C>T	c.(994-996)atC>atT	p.I332I	RARA_ENST00000420042.1_3'UTR|RARA_ENST00000425707.3_Silent_p.I235I|RARA_ENST00000394089.2_Silent_p.I332I|RARA_ENST00000394086.3_Silent_p.I348I|RARA_ENST00000394081.3_Silent_p.I327I	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	332	Ligand-binding.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)	p.I332I(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TCAGCGCCATCTGCCTCATCT	0.682			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL																																	uc002huk.1				Dom	yes		17	17q12	5914	T	"""retinoic acid receptor, alpha"""			L	PML|ZNF145|TIF1|NUMA1|NPM1		APL		1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(994-996)ATC>ATT		retinoic acid receptor, alpha isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)						35.0	37.0	36.0					17																	38510742		2203	4299	6502	SO:0001819	synonymous_variant	5914				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr17:38510742C>T	X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.996C>T	17.37:g.38510742C>T						RARA_uc002hul.3_Silent_p.I332I|RARA_uc010wfe.1_Silent_p.I235I|RARA_uc002hun.1_Silent_p.I327I	p.I332I	NM_000964	NP_000955	P10276	RARA_HUMAN	STAD - Stomach adenocarcinoma(5;0.00143)		7	1451	+		Breast(137;0.00328)	332			Ligand-binding.		B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Silent	SNP	ENST00000254066.5	37	c.996C>T	CCDS11366.1																																																																																				PASS	0.682	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			14	47	14	47	---	---	---	---
CCDC57	284001	broad.mit.edu	37	17	80136939	80136939	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr17:80136939C>A	ENST00000389641.4	-	9	1374	c.1338G>T	c.(1336-1338)gaG>gaT	p.E446D	CCDC57_ENST00000327026.3_Intron|CCDC57_ENST00000392343.3_Missense_Mutation_p.E446D|CCDC57_ENST00000392347.1_Missense_Mutation_p.E446D			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	446								p.E446D(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GAATCAGGGCCTCTGACTTTT	0.622																																						uc002kdz.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1336-1338)GAG>GAT		coiled-coil domain containing 57							62.0	66.0	65.0					17																	80136939		2051	4184	6235	SO:0001583	missense	284001							g.chr17:80136939C>A	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1338G>T	17.37:g.80136939C>A	ENSP00000374292:p.Glu446Asp					CCDC57_uc002kdx.1_Missense_Mutation_p.E446D|CCDC57_uc010dik.1_Intron	p.E446D	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		10	1693	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		446			Potential.		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.1338G>T		.	.	.	.	.	.	.	.	.	.	C	21.5	4.156030	0.78114	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.65549	1.24;1.24;-0.16	5.52	3.52	0.40303	.	0.080390	0.51477	N	0.000088	T	0.62901	0.2466	M	0.71581	2.175	0.80722	D	1	B;B	0.32101	0.215;0.356	B;B	0.40741	0.216;0.339	T	0.60260	-0.7298	10	0.48119	T	0.1	-31.5856	6.9439	0.24508	0.1725:0.7387:0.0:0.0887	.	446;446	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	D	446	ENSP00000374292:E446D;ENSP00000376158:E446D;ENSP00000376154:E446D	ENSP00000374292:E446D	E	-	3	2	CCDC57	77730228	0.997000	0.39634	0.621000	0.29145	0.954000	0.61252	1.285000	0.33261	0.678000	0.31325	0.557000	0.71058	GAG		PASS	0.622	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		20	49	20	49	---	---	---	---
ZCCHC2	54877	broad.mit.edu	37	18	60241410	60241410	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr18:60241410A>C	ENST00000269499.5	+	13	2514	c.2096A>C	c.(2095-2097)gAg>gCg	p.E699A	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.E378A	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	699						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.E699A(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CTAGGAAATGAGAATGGAAAC	0.423																																						uc002lip.3																			1	Substitution - Missense(1)		lung(1)	lung(1)|prostate(1)	2						c.(2095-2097)GAG>GCG		zinc finger, CCHC domain containing 2							170.0	161.0	164.0					18																	60241410		1890	4127	6017	SO:0001583	missense	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60241410A>C	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2096A>C	18.37:g.60241410A>C	ENSP00000269499:p.Glu699Ala					ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Missense_Mutation_p.E169A	p.E699A	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN			13	2096	+			699					B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	c.2096A>C	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.497663	0.44455	.	.	ENSG00000141664	ENST00000269499	T	0.27256	1.68	5.9	5.9	0.94986	.	0.241871	0.37136	N	0.002222	T	0.21631	0.0521	L	0.27053	0.805	0.43025	D	0.994589	P	0.34562	0.457	B	0.34038	0.174	T	0.03473	-1.1033	10	0.52906	T	0.07	-15.896	16.3322	0.83039	1.0:0.0:0.0:0.0	.	699	Q9C0B9	ZCHC2_HUMAN	A	699	ENSP00000269499:E699A	ENSP00000269499:E699A	E	+	2	0	ZCCHC2	58392390	1.000000	0.71417	0.371000	0.25978	0.921000	0.55340	4.091000	0.57700	2.251000	0.74343	0.528000	0.53228	GAG		PASS	0.423	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		113	300	113	300	---	---	---	---
CNN1	1264	broad.mit.edu	37	19	11660497	11660497	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr19:11660497T>G	ENST00000252456.2	+	7	992	c.781T>G	c.(781-783)Tat>Gat	p.Y261D	CNN1_ENST00000535659.2_Missense_Mutation_p.Y211D|CNN1_ENST00000592923.1_Missense_Mutation_p.Y211D|CNN1_ENST00000544952.1_Missense_Mutation_p.Y241D	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	261					actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)		p.Y261D(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						CATGACGGTGTATGGGCTGCC	0.632																																						uc002msc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(781-783)TAT>GAT		calponin 1, basic, smooth muscle							69.0	62.0	64.0					19																	11660497		2203	4300	6503	SO:0001583	missense	1264				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding	g.chr19:11660497T>G	U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.781T>G	19.37:g.11660497T>G	ENSP00000252456:p.Tyr261Asp					CNN1_uc010xmb.1_Missense_Mutation_p.Y211D|CNN1_uc010xmc.1_Missense_Mutation_p.Y211D	p.Y261D	NM_001299	NP_001290	P51911	CNN1_HUMAN			7	945	+			261			Calponin-like 3.		B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	Missense_Mutation	SNP	ENST00000252456.2	37	c.781T>G	CCDS12263.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.975380	0.74360	.	.	ENSG00000130176	ENST00000252456;ENST00000535659;ENST00000544952	T;T;T	0.53423	0.62;0.62;0.62	4.78	4.78	0.61160	.	0.275124	0.36482	N	0.002576	T	0.67664	0.2917	M	0.81179	2.53	0.58432	D	0.999993	D	0.69078	0.997	D	0.65874	0.939	T	0.73110	-0.4086	10	0.72032	D	0.01	-37.8897	13.4048	0.60906	0.0:0.0:0.0:1.0	.	261	P51911	CNN1_HUMAN	D	261;211;241	ENSP00000252456:Y261D;ENSP00000442031:Y211D;ENSP00000437470:Y241D	ENSP00000252456:Y261D	Y	+	1	0	CNN1	11521497	1.000000	0.71417	0.955000	0.39395	0.844000	0.47949	7.417000	0.80156	2.013000	0.59113	0.443000	0.29094	TAT		PASS	0.632	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458854.1	NM_001299		3	62	3	62	---	---	---	---
ZNF443	10224	broad.mit.edu	37	19	12541874	12541874	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr19:12541874C>T	ENST00000301547.5	-	4	1309	c.1112G>A	c.(1111-1113)gGg>gAg	p.G371E	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	371					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G371E(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						AAAGCCTTTCCCACATATCTT	0.423																																						uc002mtu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1111-1113)GGG>GAG		zinc finger protein 443							205.0	191.0	196.0					19																	12541874		2203	4300	6503	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12541874C>T	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1112G>A	19.37:g.12541874C>T	ENSP00000301547:p.Gly371Glu						p.G371E	NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN			4	1310	-			371			C2H2-type 9.			Missense_Mutation	SNP	ENST00000301547.5	37	c.1112G>A	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.385943	0.42308	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.06933	3.24	1.37	0.29	0.15728	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20251	0.0487	L	0.61387	1.9	0.28582	N	0.910088	D	0.89917	1.0	D	0.97110	1.0	T	0.07558	-1.0766	9	0.66056	D	0.02	.	5.3816	0.16194	0.0:0.7998:0.0:0.2002	.	371	Q9Y2A4	ZN443_HUMAN	E	371	ENSP00000301547:G371E	ENSP00000301547:G371E	G	-	2	0	ZNF443	12402874	0.999000	0.42202	0.305000	0.25099	0.166000	0.22503	2.050000	0.41297	0.155000	0.19261	0.461000	0.40582	GGG		PASS	0.423	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		105	332	105	332	---	---	---	---
DCAF15	90379	broad.mit.edu	37	19	14069908	14069908	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr19:14069908C>T	ENST00000254337.6	+	7	857	c.836C>T	c.(835-837)gCg>gTg	p.A279V		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	279					protein ubiquitination (GO:0016567)			p.A279V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TGCCCCCTGGCGCCTGCCAGC	0.657																																						uc002mxt.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(835-837)GCG>GTG		DDB1 and CUL4 associated factor 15							44.0	52.0	49.0					19																	14069908		2202	4300	6502	SO:0001583	missense	90379							g.chr19:14069908C>T	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.836C>T	19.37:g.14069908C>T	ENSP00000254337:p.Ala279Val					DCAF15_uc002mxu.2_5'Flank	p.A279V	NM_138353	NP_612362	Q66K64	DCA15_HUMAN			7	842	+			279					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.836C>T	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	c	4.987	0.183233	0.09495	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.97	2.56	0.30785	.	0.520829	0.17051	N	0.188907	T	0.20414	0.0491	N	0.24115	0.695	0.09310	N	1	B	0.26708	0.157	B	0.19666	0.026	T	0.14699	-1.0463	9	0.31617	T	0.26	-5.6252	6.2971	0.21091	0.0:0.6685:0.1475:0.184	.	279	Q66K64	DCA15_HUMAN	V	279	.	ENSP00000254337:A279V	A	+	2	0	DCAF15	13930908	0.000000	0.05858	0.060000	0.19600	0.053000	0.15095	0.317000	0.19487	0.380000	0.24823	-0.258000	0.10820	GCG		PASS	0.657	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		8	132	8	132	---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19338756	19338756	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr19:19338756A>T	ENST00000252575.6	+	8	2426	c.2327A>T	c.(2326-2328)gAt>gTt	p.D776V	NCAN_ENST00000538881.1_Missense_Mutation_p.D227V	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	776					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.D776V(1)|p.D790V(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GCCACTGTAGATGAGGTGCAG	0.612																																						uc002nlz.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(2326-2328)GAT>GTT		chondroitin sulfate proteoglycan 3 precursor							50.0	55.0	53.0					19																	19338756		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19338756A>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2327A>T	19.37:g.19338756A>T	ENSP00000252575:p.Asp776Val					NCAN_uc010ecc.1_Missense_Mutation_p.D340V	p.D776V	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2426	+			776					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.2327A>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	A	9.910	1.209314	0.22205	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.86230	-1.92;-2.09	3.17	2.16	0.27623	.	1.439680	0.04932	N	0.456959	D	0.83055	0.5171	L	0.29908	0.895	0.09310	N	0.999993	D;P	0.54964	0.969;0.838	P;B	0.48654	0.585;0.202	T	0.71159	-0.4674	10	0.37606	T	0.19	.	5.1144	0.14827	0.8643:0.0:0.1357:0.0	.	790;776	Q4LE67;O14594	.;NCAN_HUMAN	V	790;776;227	ENSP00000252575:D776V;ENSP00000442202:D227V	ENSP00000252575:D776V	D	+	2	0	NCAN	19199756	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.082000	0.14847	0.629000	0.30376	0.459000	0.35465	GAT		PASS	0.612	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		37	139	37	139	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22942393	22942393	+	Silent	SNP	A	A	G			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr19:22942393A>G	ENST00000596209.1	-	4	408	c.318T>C	c.(316-318)tgT>tgC	p.C106C	ZNF99_ENST00000397104.3_Silent_p.C127C	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	106					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.C127C(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTTATGTCCACATCTTGCAT	0.323																																						uc010xrh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(379-381)TGT>TGC		zinc finger protein 99							96.0	88.0	90.0					19																	22942393		1831	4099	5930	SO:0001819	synonymous_variant	7652							g.chr19:22942393A>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.318T>C	19.37:g.22942393A>G							p.C127C	NM_001080409	NP_001073878					4	381	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.381T>C	CCDS59369.1																																																																																				PASS	0.323	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		25	101	25	101	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	39019663	39019663	+	Silent	SNP	C	C	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr19:39019663C>T	ENST00000359596.3	+	76	11107	c.11107C>T	c.(11107-11109)Ctg>Ttg	p.L3703L	RYR1_ENST00000360985.3_Silent_p.L3703L|AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000355481.4_Silent_p.L3698L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3703					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.L3703L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCAGTTGGTCCTGCACTTCAG	0.632																																						uc002oit.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(11107-11109)CTG>TTG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						84.0	69.0	74.0					19																	39019663		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39019663C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11107C>T	19.37:g.39019663C>T						RYR1_uc002oiu.2_Silent_p.L3698L|RYR1_uc002oiv.1_Silent_p.L618L|RYR1_uc010xuf.1_Silent_p.L623L	p.L3703L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		76	11237	+	all_cancers(60;7.91e-06)		3703					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.11107C>T	CCDS33011.1																																																																																				PASS	0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			9	38	9	38	---	---	---	---
SIRT2	22933	broad.mit.edu	37	19	39384061	39384061	+	Missense_Mutation	SNP	G	G	T	rs200563255		TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr19:39384061G>T	ENST00000249396.7	-	4	520	c.219C>A	c.(217-219)agC>agA	p.S73R	SIRT2_ENST00000358931.5_Missense_Mutation_p.S73R|SIRT2_ENST00000392081.2_Missense_Mutation_p.S36R	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	73	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.S73R(1)		endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			CACAGCGTTCGCTCTGCATGT	0.592																																						uc002ojt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(217-219)AGC>AGA		sirtuin 2 isoform 1							51.0	42.0	45.0					19																	39384061		2203	4300	6503	SO:0001583	missense	22933				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding	g.chr19:39384061G>T	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2"", ""sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"""	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.219C>A	19.37:g.39384061G>T	ENSP00000249396:p.Ser73Arg					SIRT2_uc010egh.1_Missense_Mutation_p.S36R|SIRT2_uc010egi.1_Missense_Mutation_p.S36R|SIRT2_uc002ojs.1_Missense_Mutation_p.S53R|SIRT2_uc002oju.1_Missense_Mutation_p.S36R|SIRT2_uc010egj.1_Missense_Mutation_p.S36R|SIRT2_uc002ojv.1_Missense_Mutation_p.S73R	p.S73R	NM_012237	NP_036369	Q8IXJ6	SIRT2_HUMAN	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		4	419	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		73			Deacetylase sirtuin-type.		A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Missense_Mutation	SNP	ENST00000249396.7	37	c.219C>A	CCDS12523.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498314	0.64186	.	.	ENSG00000068903	ENST00000249396;ENST00000392081;ENST00000358931;ENST00000456703;ENST00000414941;ENST00000407552;ENST00000381766;ENST00000437828;ENST00000447739	T;T;T;T;T;T	0.46819	1.41;1.43;0.88;0.9;0.88;0.86	4.26	0.212	0.15240	.	0.115026	0.64402	D	0.000006	T	0.50051	0.1593	M	0.69248	2.105	0.43830	D	0.996407	P;P;B;D	0.69078	0.918;0.526;0.186;0.997	P;B;B;P	0.53360	0.653;0.092;0.029;0.724	T	0.49214	-0.8963	10	0.59425	D	0.04	-15.1398	5.8815	0.18858	0.5809:0.0:0.4191:0.0	.	73;36;73;53	Q8IXJ6-4;Q8IXJ6-2;Q8IXJ6;Q8IXJ6-3	.;.;SIRT2_HUMAN;.	R	73;36;73;58;36;36;36;36;36	ENSP00000249396:S73R;ENSP00000375931:S36R;ENSP00000351809:S73R;ENSP00000404309:S36R;ENSP00000385146:S36R;ENSP00000401203:S36R	ENSP00000249396:S73R	S	-	3	2	SIRT2	44075901	0.965000	0.33210	0.999000	0.59377	0.965000	0.64279	0.084000	0.14891	0.321000	0.23259	0.462000	0.41574	AGC		PASS	0.592	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1			11	43	11	43	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40420081	40420081	+	Silent	SNP	C	C	T	rs371925645		TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr19:40420081C>T	ENST00000221347.6	-	6	2920	c.2913G>A	c.(2911-2913)gtG>gtA	p.V971V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	971	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.		V -> M (in dbSNP:rs35922811).			extracellular vesicular exosome (GO:0070062)		p.V971V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGTCCGTGCGCACGACGGCAT	0.592																																						uc002omp.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(2911-2913)GTG>GTA		Fc fragment of IgG binding protein precursor		C		0,4406		0,0,2203	64.0	60.0	61.0		2913	-9.7	0.0	19		61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FCGBP	NM_003890.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		971/5406	40420081	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40420081C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2913G>A	19.37:g.40420081C>T							p.V971V	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		6	2921	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		971			VWFD 2.		O95784	Silent	SNP	ENST00000221347.6	37	c.2913G>A	CCDS12546.1																																																																																				PASS	0.592	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		13	94	13	94	---	---	---	---
CRX	1406	broad.mit.edu	37	19	48342889	48342889	+	Missense_Mutation	SNP	G	G	A	rs142111462		TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr19:48342889G>A	ENST00000221996.7	+	4	771	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	CRX_ENST00000539067.1_Missense_Mutation_p.A189T|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	189					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A189T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TCTGACCTCCGCCCCCTATGC	0.667																																					Pancreas(57;461 1196 22201 40716 47188)	uc002phq.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(565-567)GCC>ACC		cone-rod homeobox protein		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	50.0	51.0	50.0		565	0.2	0.1	19	dbSNP_134	50	0,8600		0,0,4300	no	missense	CRX	NM_000554.4	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	189/300	48342889	1,13005	2203	4300	6503	SO:0001583	missense	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48342889G>A	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.565G>A	19.37:g.48342889G>A	ENSP00000221996:p.Ala189Thr						p.A189T	NM_000554	NP_000545	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	4	769	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	189					Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	37	c.565G>A	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	G	9.858	1.195622	0.22037	2.27E-4	0.0	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.87179	-2.22;-2.22	3.93	0.165	0.14995	Transcription factor Otx, C-terminal (1);	0.522758	0.19901	N	0.103513	T	0.72366	0.3451	N	0.25245	0.725	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.54728	-0.8250	10	0.18710	T	0.47	-3.3272	5.7339	0.18055	0.1066:0.0:0.5435:0.3499	.	189	O43186	CRX_HUMAN	T	189	ENSP00000221996:A189T;ENSP00000445565:A189T	ENSP00000221996:A189T	A	+	1	0	CRX	53034701	0.829000	0.29322	0.135000	0.22099	0.449000	0.32228	1.389000	0.34453	0.306000	0.22856	0.467000	0.42956	GCC		PASS	0.667	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		17	109	17	109	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54664257	54664257	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr19:54664257G>C	ENST00000376591.4	-	14	2148	c.2017C>G	c.(2017-2019)Ctg>Gtg	p.L673V	LENG1_ENST00000222224.3_5'Flank|TMC4_ENST00000301187.4_Missense_Mutation_p.L667V|TMC4_ENST00000416963.1_Missense_Mutation_p.L255V	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	673					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L667V(1)|p.L255V(1)		breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					gagttagccagAGCCACAGTG	0.577																																						uc010erf.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(2017-2019)CTG>GTG		transmembrane channel-like 4 isoform 1							61.0	58.0	59.0					19																	54664257		2203	4300	6503	SO:0001583	missense	147798					integral to membrane		g.chr19:54664257G>C	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.2017C>G	19.37:g.54664257G>C	ENSP00000365776:p.Leu673Val					LENG1_uc002qdm.2_5'Flank|TMC4_uc002qdn.2_Missense_Mutation_p.L387V|TMC4_uc002qdo.2_Missense_Mutation_p.L667V	p.L673V	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN			14	2149	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		673			Helical; (Potential).		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	c.2017C>G	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508754	0.44660	.	.	ENSG00000167608	ENST00000301187;ENST00000416963;ENST00000376591	T;T;T	0.72167	-0.63;-0.58;-0.63	4.37	0.792	0.18625	.	0.233607	0.36628	N	0.002488	T	0.62122	0.2402	L	0.58510	1.815	0.33297	D	0.5643	B;B;P	0.36944	0.005;0.01;0.574	B;B;B	0.39706	0.007;0.024;0.307	T	0.62492	-0.6843	10	0.32370	T	0.25	-3.24	6.0541	0.19802	0.1091:0.3638:0.527:0.0	.	673;667;255	Q7Z404;Q7Z404-1;Q7Z404-3	TMC4_HUMAN;.;.	V	667;255;673	ENSP00000301187:L667V;ENSP00000405023:L255V;ENSP00000365776:L673V	ENSP00000301187:L667V	L	-	1	2	TMC4	59356069	0.995000	0.38212	0.986000	0.45419	0.989000	0.77384	0.994000	0.29693	0.165000	0.19558	0.650000	0.86243	CTG		PASS	0.577	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			12	94	12	94	---	---	---	---
PCED1A	64773	broad.mit.edu	37	20	2818880	2818880	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr20:2818880G>A	ENST00000360652.2	-	6	1341	c.839C>T	c.(838-840)cCt>cTt	p.P280L	VPS16_ENST00000380469.3_5'Flank|VPS16_ENST00000380445.3_5'Flank|PCED1A_ENST00000356872.3_Missense_Mutation_p.P229L	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	280								p.P280L(1)									GGGCTCACCAGGGGGATAGCC	0.617																																						uc002wgz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(838-840)CCT>CTT		hypothetical protein LOC64773							80.0	77.0	78.0					20																	2818880		2203	4300	6503	SO:0001583	missense	64773						hydrolase activity|protein binding	g.chr20:2818880G>A	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.839C>T	20.37:g.2818880G>A	ENSP00000353868:p.Pro280Leu					FAM113A_uc002whb.1_Missense_Mutation_p.P131L|FAM113A_uc002wha.1_Missense_Mutation_p.P131L|FAM113A_uc010zqa.1_Missense_Mutation_p.P127L|FAM113A_uc002whc.1_Missense_Mutation_p.P229L|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank	p.P280L	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN			6	1336	-			280					Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	ENST00000360652.2	37	c.839C>T	CCDS13035.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356894	0.41801	.	.	ENSG00000132635	ENST00000356872;ENST00000360652;ENST00000448755;ENST00000439542	T;T;T;T	0.45276	1.0;1.02;0.91;0.9	4.47	1.32	0.21799	.	0.890422	0.09482	N	0.796234	T	0.21509	0.0518	N	0.22421	0.69	0.21445	N	0.99969	B;B;B;B	0.27559	0.052;0.09;0.181;0.004	B;B;B;B	0.24541	0.046;0.01;0.054;0.008	T	0.24333	-1.0163	10	0.10902	T	0.67	-10.3029	2.4658	0.04553	0.1055:0.1824:0.5032:0.2089	.	229;276;127;280	Q9H1Q7-2;D3DVX4;B4DEI2;Q9H1Q7	.;.;.;F113A_HUMAN	L	229;280;229;280	ENSP00000349334:P229L;ENSP00000353868:P280L;ENSP00000388935:P229L;ENSP00000401711:P280L	ENSP00000349334:P229L	P	-	2	0	FAM113A	2766880	0.717000	0.27966	0.490000	0.27465	0.636000	0.38137	0.810000	0.27183	0.570000	0.29347	0.563000	0.77884	CCT		PASS	0.617	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		24	157	24	157	---	---	---	---
CDC25B	994	broad.mit.edu	37	20	3782409	3782409	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr20:3782409G>C	ENST00000245960.5	+	9	1578	c.881G>C	c.(880-882)aGt>aCt	p.S294T	CDC25B_ENST00000344256.6_Missense_Mutation_p.S230T|CDC25B_ENST00000439880.2_Missense_Mutation_p.S280T|CDC25B_ENST00000340833.4_Missense_Mutation_p.S253T|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000379598.5_Intron	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	294					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.S315T(1)|p.S294T(1)		NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						AGTCTCATTAGTGCCCCACTG	0.572																																						uc002wjn.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)	5						c.(880-882)AGT>ACT		cell division cycle 25B isoform 1							103.0	96.0	99.0					20																	3782409		2203	4300	6503	SO:0001583	missense	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3782409G>C		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.881G>C	20.37:g.3782409G>C	ENSP00000245960:p.Ser294Thr					CDC25B_uc010zqk.1_Missense_Mutation_p.S230T|CDC25B_uc010zql.1_Missense_Mutation_p.S216T|CDC25B_uc010zqm.1_Intron|CDC25B_uc002wjl.2_Missense_Mutation_p.S182T|CDC25B_uc002wjm.2_Missense_Mutation_p.S182T|CDC25B_uc002wjo.2_Missense_Mutation_p.S280T|CDC25B_uc002wjp.2_Missense_Mutation_p.S253T|CDC25B_uc002wjq.2_Missense_Mutation_p.S94T|CDC25B_uc010gbc.2_5'Flank	p.S294T	NM_021873	NP_068659	P30305	MPIP2_HUMAN			9	1659	+			294					D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	c.881G>C	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	G	0.056	-1.235153	0.01505	.	.	ENSG00000101224	ENST00000344256;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	4.46	3.41	0.39046	.	0.052410	0.64402	D	0.000001	T	0.13072	0.0317	N	0.17764	0.52	0.80722	D	1	B;B;B;B;B	0.21520	0.015;0.015;0.026;0.012;0.057	B;B;B;B;B	0.24541	0.03;0.03;0.032;0.032;0.054	T	0.06679	-1.0813	10	0.02654	T	1	-4.5208	10.3375	0.43858	0.0:0.3246:0.6754:0.0	.	216;230;253;280;294	B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;MPIP2_HUMAN	T	230;294;280;253	ENSP00000339125:S230T;ENSP00000245960:S294T;ENSP00000405972:S280T;ENSP00000339170:S253T	ENSP00000245960:S294T	S	+	2	0	CDC25B	3730409	0.069000	0.21087	0.998000	0.56505	0.118000	0.20060	1.209000	0.32357	2.405000	0.81733	0.591000	0.81541	AGT		PASS	0.572	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		15	50	15	50	---	---	---	---
DZANK1	55184	broad.mit.edu	37	20	18374420	18374420	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr20:18374420C>T	ENST00000358866.6	-	16	1766	c.1744G>A	c.(1744-1746)Gaa>Aaa	p.E582K	DZANK1_ENST00000262547.5_Missense_Mutation_p.E582K|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000329494.5_Intron|DZANK1_ENST00000357236.4_Missense_Mutation_p.E468K			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	582							zinc ion binding (GO:0008270)	p.E582K(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						TTGATTTTTTCAATAGTATCT	0.388																																						uc010zsa.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1801-1803)GAA>AAA		hypothetical protein LOC55184							93.0	87.0	89.0					20																	18374420		1807	4077	5884	SO:0001583	missense	55184					intracellular	zinc ion binding	g.chr20:18374420C>T	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.1744G>A	20.37:g.18374420C>T	ENSP00000351734:p.Glu582Lys					C20orf12_uc010zrz.1_Missense_Mutation_p.E120K|C20orf12_uc002wqp.3_Missense_Mutation_p.E292K|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.E468K|C20orf12_uc002wqq.3_Missense_Mutation_p.E582K	p.E601K	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN			17	2010	-		Myeloproliferative disorder(85;0.0122)	409					B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	ENST00000358866.6	37	c.1801G>A	CCDS46582.1	.	.	.	.	.	.	.	.	.	.	C	8.391	0.839773	0.16891	.	.	ENSG00000089091	ENST00000377630;ENST00000262547;ENST00000414623;ENST00000377637;ENST00000357236	T;T;T	0.63417	0.1;-0.04;0.09	5.6	4.43	0.53597	.	.	.	.	.	T	0.49047	0.1534	L	0.45137	1.4	0.09310	N	1	B;B;B;B	0.22909	0.004;0.077;0.001;0.008	B;B;B;B	0.20184	0.003;0.028;0.001;0.008	T	0.25257	-1.0137	9	0.16420	T	0.52	-3.8178	7.2293	0.26033	0.0:0.8566:0.0:0.1434	.	601;468;582;367	B7Z631;Q9NVP4-4;Q9NVP4;A6NKD0	.;.;DZAN1_HUMAN;.	K	415;582;414;367;468	ENSP00000366857:E415K;ENSP00000262547:E582K;ENSP00000349774:E468K	ENSP00000262547:E582K	E	-	1	0	C20orf12	18322420	0.373000	0.25073	0.145000	0.22337	0.009000	0.06853	1.883000	0.39658	2.793000	0.96121	0.563000	0.77884	GAA		PASS	0.388	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407		30	62	30	62	---	---	---	---
HUNK	30811	broad.mit.edu	37	21	33296887	33296887	+	Silent	SNP	C	C	T			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr21:33296887C>T	ENST00000270112.2	+	2	729	c.369C>T	c.(367-369)atC>atT	p.I123I		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I123I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						ACCCCAATATCACTCAGCTCC	0.478																																						uc002yph.2																			1	Substitution - coding silent(1)		lung(1)	stomach(1)|skin(1)	2						c.(367-369)ATC>ATT		hormonally upregulated Neu-associated kinase							68.0	63.0	65.0					21																	33296887		2203	4300	6503	SO:0001819	synonymous_variant	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33296887C>T	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.369C>T	21.37:g.33296887C>T							p.I123I	NM_014586	NP_055401	P57058	HUNK_HUMAN			2	729	+			123			Protein kinase.			Silent	SNP	ENST00000270112.2	37	c.369C>T	CCDS13610.1																																																																																				PASS	0.478	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		16	79	16	79	---	---	---	---
SYNJ1	8867	broad.mit.edu	37	21	34003386	34003386	+	Silent	SNP	C	C	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr21:34003386C>A	ENST00000322229.7	-	31	4640	c.4641G>T	c.(4639-4641)ccG>ccT	p.P1547P	SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000433931.2_Silent_p.P1586P|SYNJ1_ENST00000382491.3_Silent_p.P1500P			O43426	SYNJ1_HUMAN	synaptojanin 1	1547	Pro-rich.		P -> L (in dbSNP:rs2230767).		cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.P1547P(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TGGTGCCGGGCGGGAGCAGAG	0.507																																						uc002yqh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(4756-4758)CCG>CCT		synaptojanin 1 isoform a							97.0	96.0	96.0					21																	34003386		2203	4300	6503	SO:0001819	synonymous_variant	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34003386C>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.4641G>T	21.37:g.34003386C>A						SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Silent_p.P1500P|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.3_Silent_p.P172P	p.P1586P	NM_003895	NP_003886	O43426	SYNJ1_HUMAN			32	4758	-			1547			Pro-rich.		O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	c.4758G>T	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	c	0.011	-1.692723	0.00731	.	.	ENSG00000159082	ENST00000479254;ENST00000490462	.	.	.	5.34	-3.46	0.04767	.	.	.	.	.	T	0.20333	0.0489	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26950	-1.0088	4	.	.	.	.	3.6211	0.08096	0.0866:0.1746:0.1678:0.571	.	.	.	.	L	62	.	.	R	-	2	0	SYNJ1	32925257	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.530000	0.02221	-0.901000	0.03891	-2.226000	0.00293	CGC		PASS	0.507	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				27	93	27	93	---	---	---	---
AIRE	326	broad.mit.edu	37	21	45706878	45706878	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr21:45706878C>A	ENST00000291582.5	+	3	452	c.325C>A	c.(325-327)Ccc>Acc	p.P109T		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	109					humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)	p.P109T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CCTCAGCCAGCCCCGGAAGGG	0.667									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																													uc002zei.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(325-327)CCC>ACC		autoimmune regulator isoform 1							23.0	30.0	28.0					21																	45706878		2182	4242	6424	SO:0001583	missense	326	Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy	Familial Cancer Database	APECED	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	g.chr21:45706878C>A	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.325C>A	21.37:g.45706878C>A	ENSP00000291582:p.Pro109Thr						p.P109T	NM_000383	NP_000374	O43918	AIRE_HUMAN		Colorectal(79;0.0806)	3	452	+			109					B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	ENST00000291582.5	37	c.325C>A	CCDS13706.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.531022	0.00951	.	.	ENSG00000160224	ENST00000291582	D	0.94497	-3.44	4.58	-1.47	0.08772	.	1.074710	0.07223	N	0.861184	D	0.90075	0.6900	L	0.51422	1.61	0.09310	N	1	B	0.30851	0.297	B	0.31390	0.129	T	0.76900	-0.2788	10	0.15952	T	0.53	-14.3698	6.6481	0.22947	0.0:0.5091:0.2381:0.2527	.	109	O43918	AIRE_HUMAN	T	109	ENSP00000291582:P109T	ENSP00000291582:P109T	P	+	1	0	AIRE	44531306	0.000000	0.05858	0.120000	0.21714	0.216000	0.24613	-1.161000	0.03144	-0.416000	0.07473	-1.284000	0.01376	CCC		PASS	0.667	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2			4	61	4	61	---	---	---	---
DEPDC5	9681	broad.mit.edu	37	22	32297747	32297747	+	Nonsense_Mutation	SNP	C	C	G			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr22:32297747C>G	ENST00000382112.3	+	40	4438	c.4368C>G	c.(4366-4368)taC>taG	p.Y1456*	DEPDC5_ENST00000382111.2_Intron|DEPDC5_ENST00000535622.1_Nonsense_Mutation_p.Y1365*|DEPDC5_ENST00000400246.1_Intron|DEPDC5_ENST00000539165.1_Nonsense_Mutation_p.Y282*|DEPDC5_ENST00000400248.2_Nonsense_Mutation_p.Y1434*|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000400249.2_Nonsense_Mutation_p.Y1434*|DEPDC5_ENST00000266091.3_Nonsense_Mutation_p.Y1443*	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1465					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.Y1434*(1)|p.Y1365*(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCGAAACGTACTGGGATCGAA	0.428																																						uc003als.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(4300-4302)TAC>TAG		DEP domain containing 5 isoform 1							93.0	87.0	89.0					22																	32297747		1895	4117	6012	SO:0001587	stop_gained	9681				intracellular signal transduction			g.chr22:32297747C>G	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.4368C>G	22.37:g.32297747C>G	ENSP00000371546:p.Tyr1456*					DEPDC5_uc011als.1_Nonsense_Mutation_p.Y1365*|DEPDC5_uc011alu.1_Nonsense_Mutation_p.Y1465*|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Nonsense_Mutation_p.Y1456*|DEPDC5_uc003alu.2_Nonsense_Mutation_p.Y883*|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Nonsense_Mutation_p.Y732*|DEPDC5_uc011alx.1_Nonsense_Mutation_p.Y282*|DEPDC5_uc010gwk.2_Nonsense_Mutation_p.Y460*|DEPDC5_uc011aly.1_Nonsense_Mutation_p.Y282*	p.Y1434*	NM_014662	NP_055477	O75140	DEPD5_HUMAN			40	4444	+			1434					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Nonsense_Mutation	SNP	ENST00000382112.3	37	c.4302C>G	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.585142|10.585142	0.99432|0.99432	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000382112;ENST00000400248;ENST00000539165	.|.	.|.	.|.	4.59|4.59	3.25|3.25	0.37280|0.37280	.|.	.|0.180892	.|0.37437	.|N	.|0.002091	T|.	0.24509|.	0.0594|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32402|.	-0.9908|.	3|.	.|0.02654	.|T	.|1	.|.	10.2289|10.2289	0.43243|0.43243	0.0:0.8722:0.0:0.1278|0.0:0.8722:0.0:0.1278	.|.	.|.	.|.	.|.	V|X	841|1365;1443;1434;1365;1456;1434;282	.|.	.|ENSP00000266091:Y1443X	L|Y	+|+	1|3	2|2	DEPDC5|DEPDC5	30627747|30627747	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.828000|0.828000	0.46876|0.46876	1.699000|1.699000	0.37804|0.37804	0.892000|0.892000	0.36259|0.36259	0.462000|0.462000	0.41574|0.41574	CTG|TAC		PASS	0.428	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		8	38	8	38	---	---	---	---
DDX53	168400	broad.mit.edu	37	X	23019367	23019367	+	Missense_Mutation	SNP	G	G	A	rs368434907		TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chrX:23019367G>A	ENST00000327968.5	+	1	1281	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	398	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)	p.R398H(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						TTAGATGTGCGCCCAGACCGA	0.393																																						uc004daj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|kidney(1)	3						c.(1192-1194)CGC>CAC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53		G	HIS/ARG	1,3834		0,1,1631,571	164.0	163.0	163.0		1193	2.2	0.9	X		163	0,6728		0,0,2428,1872	no	missense	DDX53	NM_182699.3	29	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	benign	398/632	23019367	1,10562	2203	4300	6503	SO:0001583	missense	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23019367G>A	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1193G>A	X.37:g.23019367G>A	ENSP00000368667:p.Arg398His						p.R398H	NM_182699	NP_874358	Q86TM3	DDX53_HUMAN			1	1281	+			398			Helicase ATP-binding.		Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	c.1193G>A	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874578	0.33069	2.61E-4	0.0	ENSG00000184735	ENST00000327968	T	0.15718	2.4	4.03	2.21	0.28008	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.058790	0.64402	N	0.000001	T	0.16342	0.0393	L	0.51853	1.615	0.41542	D	0.988526	B	0.30236	0.274	B	0.29267	0.1	T	0.03739	-1.1008	10	0.72032	D	0.01	-6.6843	10.6156	0.45447	0.1952:0.0:0.8048:0.0	.	398	Q86TM3	DDX53_HUMAN	H	398	ENSP00000368667:R398H	ENSP00000368667:R398H	R	+	2	0	DDX53	22929288	1.000000	0.71417	0.908000	0.35775	0.707000	0.40811	3.890000	0.56220	-0.080000	0.12685	-0.905000	0.02835	CGC		PASS	0.393	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		12	667	12	667	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195512373	195512374	+	In_Frame_Ins	INS	-	-	GAT	rs112774151|rs63118461		TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr3:195512373_195512374insGAT	ENST00000463781.3	-	2	6536_6537	c.6077_6078insATC	c.(6076-6078)tcc>tcATCc	p.2026_2026S>SS	MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2026S>SS|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S2026_T2027insS(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCAGTGGATGCTGAGGA	0.579																																						uc011bto.1																			3	Insertion - In frame(3)		large_intestine(2)|breast(1)		0						c.(6076-6078)TCC>TCATCC		mucin 4 isoform a			,,	1110,2296		177,756,770					,,		0.0		dbSNP_130	24	1888,5346		82,1724,1811	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	259,2480,2581	A1A1,A1R,RR		26.099,32.5895,28.1767	,,	,,		2998,7642				SO:0001652	inframe_insertion	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195512373_195512374insGAT	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6075_6077dupATC	3.37:g.195512374_195512376dupGAT	ENSP00000417498:p.Ser2026dup					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.2026_2026S>SS	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6537_6538	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	798			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Ins	INS	ENST00000463781.3	37	c.6077_6078insATC	CCDS54700.1																																																																																					0.579	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	2	4	2	---	---	---	---
KRBA1	84626	broad.mit.edu	37	7	149419581	149419581	+	Frame_Shift_Del	DEL	C	C	-			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr7:149419581delC	ENST00000485033.2	+	5	535	c.535delC	c.(535-537)cccfs	p.P179fs	KRBA1_ENST00000319551.8_Frame_Shift_Del_p.P179fs|KRBA1_ENST00000255992.10_Frame_Shift_Del_p.P179fs|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	179										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCAGCCCTCCCACCCATAG	0.627																																						uc003wfz.2																			0				ovary(1)|central_nervous_system(1)	2						c.(535-537)CCCfs		KRAB A domain containing 1							20.0	23.0	22.0					7																	149419581		1838	4081	5919	SO:0001589	frameshift_variant	84626							g.chr7:149419581delC	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.535delC	7.37:g.149419581delC	ENSP00000420112:p.Pro179fs					KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_5'Flank	p.P179fs	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		6	934	+	Melanoma(164;0.165)|Ovarian(565;0.177)		179					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Frame_Shift_Del	DEL	ENST00000485033.2	37	c.535delC																																																																																						0.627	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		16	7	16	7	---	---	---	---
Unknown	0	broad.mit.edu	37	13	19420047	19420053	+	IGR	DEL	TTCGTAT	TTCGTAT	-	rs9506853|rs377510750	byFrequency	TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr13:19420047_19420053delTTCGTAT								LINC00418 (126178 upstream) : RP11-38M15.11 (13913 downstream)																							ATAACATTTCTTCGTATTTTATATTTT	0.246																																						uc010tcj.1																			0					0								Homo sapiens ankyrin repeat domain 20 family, member A2 pseudogene (LOC284232), non-coding RNA.																																				SO:0001628	intergenic_variant	284232							g.chr13:19420047_19420053delTTCGTAT																													13.37:g.19420047_19420053delTTCGTAT								NR_027995						1		-									RNA	DEL		37	c.26057_26063delATACGAA																																																																																				0		0.246									10	5	10	5	---	---	---	---
CEP170B	283638	broad.mit.edu	37	14	105353958	105353959	+	Frame_Shift_Ins	INS	-	-	G	rs374805591|rs553014433	byFrequency	TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr14:105353958_105353959insG	ENST00000414716.3	+	12	3610_3611	c.3382_3383insG	c.(3382-3384)cggfs	p.R1128fs	CEP170B_ENST00000418279.1_Frame_Shift_Ins_p.R1058fs|CEP170B_ENST00000453495.1_Frame_Shift_Ins_p.R1129fs|CEP170B_ENST00000556508.1_Frame_Shift_Ins_p.R1058fs	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1128						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CCGGCTGAGGCGGGCCCGGCTG	0.733																																						uc010axb.2																			0				breast(1)	1						c.(3382-3384)CGGfs		hypothetical protein LOC283638 isoform 1																																				SO:0001589	frameshift_variant	283638					cytoplasm|microtubule		g.chr14:105353958_105353959insG	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3385dupG	14.37:g.105353961_105353961dupG	ENSP00000404151:p.Arg1128fs					INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Frame_Shift_Ins_p.R1058fs|KIAA0284_uc001yps.2_Frame_Shift_Ins_p.R1034fs|KIAA0284_uc001ypt.2_5'Flank	p.R1128fs	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)	12	3606_3607	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1128					Q2KHR7|Q86TI7	Frame_Shift_Ins	INS	ENST00000414716.3	37	c.3382_3383insG	CCDS45175.1																																																																																					0.733	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		4	2	4	2	---	---	---	---
RTN4RL1	146760	broad.mit.edu	37	17	1840292	1840292	+	Frame_Shift_Del	DEL	C	C	-			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr17:1840292delC	ENST00000331238.6	-	2	1303	c.824delG	c.(823-825)ggcfs	p.G275fs		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GGAGCTGGAGCCCCGGAACCT	0.706																																					GBM(68;949 1139 14865 32798 38342)	uc002ftp.2																			0					0						c.(823-825)GGCfs		reticulon 4 receptor-like 1 precursor							12.0	14.0	14.0					17																	1840292		2013	4179	6192	SO:0001589	frameshift_variant	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1840292delC	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.824delG	17.37:g.1840292delC	ENSP00000330631:p.Gly275fs						p.G275fs	NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN			2	843	-			275			LRRCT.			Frame_Shift_Del	DEL	ENST00000331238.6	37	c.824delG	CCDS45569.1																																																																																					0.706	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		6	4	6	4	---	---	---	---
SMCR8	140775	broad.mit.edu	37	17	18221387	18221392	+	In_Frame_Del	DEL	AAGCCC	AAGCCC	-			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr17:18221387_18221392delAAGCCC	ENST00000406438.3	+	1	2764_2769	c.2284_2289delAAGCCC	c.(2284-2289)aagcccdel	p.KP762del		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	762						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CTGCTACGCTAAGCCCGTGAAACATT	0.539																																						uc002gsy.3																			0				central_nervous_system(1)	1						c.(2284-2289)AAGCCCdel		Smith-Magenis syndrome chromosome region,																																				SO:0001651	inframe_deletion	140775							g.chr17:18221387_18221392delAAGCCC	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.2284_2289delAAGCCC	17.37:g.18221387_18221392delAAGCCC	ENSP00000385025:p.Lys762_Pro763del						p.KP762del	NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN			1	2794_2799	+			762_763					A5PKZ5|Q3ZCN0|Q6PJL3	In_Frame_Del	DEL	ENST00000406438.3	37	c.2284_2289delAAGCCC	CCDS11195.2																																																																																					0.539	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		94	44	94	44	---	---	---	---
PTOV1	53635	broad.mit.edu	37	19	50358117	50358118	+	Frame_Shift_Ins	INS	-	-	A			TCGA-60-2712-01A-01D-1522-08	TCGA-60-2712-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30	43753f7f-fa3a-4a0f-890e-919b92ff4e6f	g.chr19:50358117_50358118insA	ENST00000601675.1	+	4	526_527	c.422_423insA	c.(421-426)atcatgfs	p.M142fs	PTOV1_ENST00000391842.1_Frame_Shift_Ins_p.M142fs|PTOV1_ENST00000599732.1_Frame_Shift_Ins_p.M142fs|MIR4749_ENST00000578197.1_RNA|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000601638.1_Frame_Shift_Ins_p.M110fs|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000221557.9_Frame_Shift_Ins_p.M110fs|PTOV1_ENST00000600603.1_Frame_Shift_Ins_p.M110fs|AC018766.5_ENST00000593654.1_RNA			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CAGAAGCTGATCATGCAGCTGA	0.658																																						uc002pqf.1																			0					0						c.(421-423)ATCfs		prostate tumor overexpressed 1																																				SO:0001589	frameshift_variant	53635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		g.chr19:50358117_50358118insA	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	Exception_encountered	19.37:g.50358117_50358118insA	ENSP00000472816:p.Met142fs					PTOV1_uc010ybf.1_Frame_Shift_Ins_p.I109fs|PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Frame_Shift_Ins_p.I109fs|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	p.I141fs	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	4	592_593	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	141					Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Frame_Shift_Ins	INS	ENST00000601675.1	37	c.422_423insA	CCDS12782.1																																																																																					0.658	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		53	31	53	31	---	---	---	---
