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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
OR9G4	283189	broad.mit.edu	37	11	56511197	56511197	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr11:56511197C>T	uc010rjo.2	-	0	91	c.91G>A	c.(91-93)Ggt>Agt	p.G31S		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G31S(2)|p.G31G(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GCTGAGAAACCCAACAAGATG	0.428000													4	107					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32157563	32157563	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr6:32157563C>A	uc003oav.1	-	0	401	c.130G>T	c.(130-132)Gtc>Ttc	p.V44F	PBX2_uc003oaw.3_Missense_Mutation_p.V44F	NM_002586	NP_002577	P40425	PBX2_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 2 (PBX2), mRNA.	44							transcription factor binding	p.V44F(4)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CCTCCCGGGACCCCCCCGCTA	0.711000													3	38					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31021261	31021261	+	Silent	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr20:31021261C>T	uc021wbw.1	+	11	1692	c.1260C>T	c.(1258-1260)gcC>gcT	p.A420A	ASXL1_uc002wxs.3_Silent_p.A419A|ASXL1_uc010geb.3_Silent_p.A311A	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	420					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.A420A(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAACCAGAGCCAGAAGGAATC	0.527000			"""F, N, Mis"""		"""MDS, CMML"""								5	169					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134054637	134054637	+	Silent	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr11:134054637C>T	uc001qhd.1	-	18	2952	c.2346G>A	c.(2344-2346)aaG>aaA	p.K782K	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	782					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.K782K(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCAGCTTACACTTGACAGCAT	0.448000													19	96					0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152748962	152748962	+	Missense_Mutation	SNP	C	C	G	rs116630978	by1000genomes	TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr1:152748962C>G	uc010pdv.2	+	0	115	c.115C>G	c.(115-117)Cct>Gct	p.P39A		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	39	Pro-rich.				keratinization			p.P39A(2)|p.P39L(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			taagtgccctccTGTCTCTTC	0.677000													14	84					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197073334	197073334	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr1:197073334T>C	uc001gtu.3	-	17	5304	c.5047A>G	c.(5047-5049)Ata>Gta	p.I1683V	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1683	IQ 5.				mitosis	cytoplasm|nucleus	calmodulin binding	p.I1683V(2)|p.I1683fs*7(2)		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						TGCAATTTTATTGTAGCATTT	0.303000													4	125					0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113703743	113703743	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr9:113703743C>T	uc011lwo.2	-	1	756	c.754G>A	c.(754-756)Gat>Aat	p.D252N	LPAR1_uc004bfa.3_Missense_Mutation_p.D251N|LPAR1_uc011lwm.2_Missense_Mutation_p.D252N|LPAR1_uc004bfc.3_Missense_Mutation_p.D251N|LPAR1_uc011lwn.2_Missense_Mutation_p.D233N|LPAR1_uc004bfb.3_Missense_Mutation_p.D251N|LPAR1_uc010mub.3_Missense_Mutation_p.D251N	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	251					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		p.D251N(2)|p.D251D(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ATCATGGTATCCCGATTCCGC	0.443000													24	98					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73050857	73050857	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr10:73050857G>A	uc001jro.3	+	8	1736	c.1285G>A	c.(1285-1287)Gca>Aca	p.A429T	UNC5B_uc001jrp.3_Missense_Mutation_p.A418T	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	429					apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.A429T(3)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CTTTAAGACGGCAAGGCCCAG	0.597000													7	330					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160260299	160260299	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr4:160260299C>T	uc003iqg.4	+	12	2154	c.1844C>T	c.(1843-1845)gCt>gTt	p.A615V		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	615	Ras-associating.				MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity	p.A615V(1)|p.A603V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GTTTTTAAGGCTGATCAGCAA	0.423000													6	355					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62146723	62146723	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr15:62146723G>A	uc002agz.3	-	84	11286	c.11195C>T	c.(11194-11196)aCg>aTg	p.T3732M	VPS13C_uc002aha.3_Missense_Mutation_p.T3689M	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	3732					protein localization			p.T3732M(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTGCTGTCTCGTTGACTGTGC	0.408000													10	453					0	0	1	0	0
HSF1	3297	broad.mit.edu	37	8	145534873	145534873	+	Silent	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr8:145534873C>T	uc003zbt.4	+	4	672	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L	HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	168	Hydrophobic repeat HR-A/B.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.L168L(2)		endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GAATGAGGCTCTGTGGCGGGA	0.667000													3	3					0	0	1	0	0
ZNF333	84449	broad.mit.edu	37	19	14829747	14829747	+	Silent	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr19:14829747C>T	uc002mzn.3	+	11	1742	c.1608C>T	c.(1606-1608)tgC>tgT	p.C536C	ZNF333_uc002mzk.4_Silent_p.C427C	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	Homo sapiens zinc finger protein 333 (ZNF333), mRNA.	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C536C(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TGTATGAGTGCGCGACTTGCG	0.527000													13	76					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31595605	31595605	+	Silent	SNP	C	C	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr6:31595605C>A	uc003nvb.4	+	11	1603	c.1354C>A	c.(1354-1356)Cga>Aga	p.R452R	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Silent_p.R452R	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	452	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding	p.R452R(2)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						ATGGCGGCAGCGACGAAAGCA	0.642000													3	64					0	0	1	0	0
SMARCB1	6598	broad.mit.edu	37	22	24143165	24143165	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr22:24143165C>A	uc002zyd.3	+	3	577	c.370C>A	c.(370-372)Ccc>Acc	p.P124T	SMARCB1_uc002zyg.2_Missense_Mutation_p.P133T|SMARCB1_uc011ajb.1_Missense_Mutation_p.P124T|SMARCB1_uc002zya.3_Missense_Mutation_p.P133T|SMARCB1_uc002zyb.3_Missense_Mutation_p.P133T|SMARCB1_uc002zyc.3_Missense_Mutation_p.P124T|SMARCB1_uc002zye.1_Intron|SMARCB1_uc002zyf.1_Intron|SMARCB1_uc010gue.1_Intron	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	133	DNA-binding (Potential).				DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(5)|p.P133T(1)|p.P124T(1)|p.S129fs*36(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CCAGTGGGTACCCACCCTGCC	0.557000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							6	79					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16975947	16975947	+	RNA	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr1:16975947C>T	uc010och.2	+	10		c.1969C>T			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		AGAGCCAGGCCTACAGCGGGT	0.577000													3	92					0	0	1	0	0
MBL1P	8512	broad.mit.edu	37	10	81666473	81666473	+	RNA	SNP	A	A	G			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr10:81666473A>G	uc021puw.1	+	1		c.298A>G								Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) pseudogene (LOC100288974), non-coding RNA.									p.Q38R(1)									GAAGATGCCCAGAAGAGAAAT	0.438000													5	94					0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36297714	36297714	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr19:36297714C>T	uc002obx.1	-	6	943	c.925G>A	c.(925-927)Gtg>Atg	p.V309M		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	309					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	p.V309M(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGAGCCGCACGTGCTGGGCC	0.682000													4	17					0	0	1	0	0
FAM75A3	727830	broad.mit.edu	37	9	40702847	40702847	+	Silent	SNP	C	C	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr9:40702847C>A	uc010mmj.3	+	3	533	c.504C>A	c.(502-504)acC>acA	p.T168T		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	168	Pro-rich.					integral to membrane		p.T168T(3)		kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGGCCTCCACCCCATCACCAG	0.597000													17	374					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415778	19415778	+	RNA	SNP	C	C	A	rs2801692		TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr13:19415778C>A	uc010tcj.1	-	0		c.30332G>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TCAGCAGCAGCAGAAGATGTA	0.318000													4	80					0	0	1	0	0
RSPH4A	345895	broad.mit.edu	37	6	116948990	116948990	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr6:116948990C>T	uc003pxe.2	+	2	1265	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C	RSPH4A_uc010kee.2_Missense_Mutation_p.R374C	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.	374	Glu-rich.				cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.R374C(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTGGAATTTCGTgaggggga	0.453000									Kartagener syndrome				18	100					0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149431015	149431015	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr7:149431015C>G	uc003wfz.3	+	17	3368	c.2969C>G	c.(2968-2970)gCa>gGa	p.A990G	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Missense_Mutation_p.A598G	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	991	Pro-rich.							p.A990G(2)|p.V989L(1)		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)			TCAGGAGTGGCACCAGACGGG	0.667000													2	10					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76374992	76374992	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr13:76374992A>G	uc021rkq.1	+	6	970	c.635A>G	c.(634-636)gAt>gGt	p.D212G	LMO7_uc010thv.2_Missense_Mutation_p.D264G|LMO7_uc001vjt.1_Missense_Mutation_p.D212G|LMO7_uc001vjv.3_5'UTR|LMO7_uc010thw.2_Missense_Mutation_p.D173G|LMO7_uc001vju.1_Non-coding_Transcript	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	264						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.D264G(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGCTCCTCTGATATCACGTTG	0.458000													14	328					0	0	1	0	0
RIPK2	8767	broad.mit.edu	37	8	90801576	90801576	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr8:90801576A>G	uc003yee.3	+	9	1465	c.1151A>G	c.(1150-1152)aAg>aGg	p.K384R	RIPK2_uc003yef.3_Missense_Mutation_p.K247R	NM_003821	NP_003812	O43353	RIPK2_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 2 (RIPK2), mRNA.	384					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity	p.K384R(3)		kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TATTTTATGAAGCTGCATCAC	0.398000													6	259					0	0	1	0	0
CCDC142	84865	broad.mit.edu	37	2	74708964	74708964	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr2:74708964A>T	uc002slr.3	-	0	1394	c.1001T>A	c.(1000-1002)cTg>cAg	p.L334Q	TTC31_uc002sls.2_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.3_Non-coding_Transcript|CCDC142_uc002slq.3_Missense_Mutation_p.L334Q|CCDC142_uc002slp.2_Missense_Mutation_p.L334Q	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	Homo sapiens coiled-coil domain containing 142 (CCDC142), mRNA.	334								p.L334Q(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						TGCCTGACTCAGCTGTTGCGC	0.612000													8	111					0	0	1	0	0
RPL13AP20	387841	broad.mit.edu	37	12	13028952	13028952	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr12:13028952T>C	uc010sho.2	+	0	542	c.520T>C	c.(520-522)Ttc>Ctc	p.F174L						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		GAAGAAACAGTTCATGAGGCT	0.512000													2	12					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118680	118680	+	RNA	SNP	T	T	C			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chrGL000205.1:118680T>C	uc002kgk.4	+	0		c.2058T>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGTGATTTATTAACGCCCAA	0.378000													4	5					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176553	140176553	+	Silent	SNP	G	G	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr5:140176553G>A	uc003lhd.2	+	0	2110	c.2004G>A	c.(2002-2004)tcG>tcA	p.S668S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.S668S|PCDHAC2_uc011czy.2_Silent_p.S668S	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	679	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S668S(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTAGTGTCGTTGGTGGAAA	0.652000													11	126					0	0	1	0	0
ALDOC	230	broad.mit.edu	37	17	26901519	26901519	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr17:26901519G>T	uc002hbp.3	-	5	762	c.617C>A	c.(616-618)aCa>aAa	p.T206K	PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank	NM_005165	NP_005156	P09972	ALDOC_HUMAN	Homo sapiens aldolase C, fructose-bisphosphate (ALDOC), mRNA.	206					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity	p.T206K(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					CACCTTCTCTGTAACATACTG	0.517000													12	314					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211454904	211454904	+	Silent	SNP	G	G	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr2:211454904G>A	uc010fur.3	+	8	886	c.804G>A	c.(802-804)gcG>gcA	p.A268A	CPS1_uc002vee.4_Silent_p.A262A	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	262	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.A262A(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TTTTGATCGCGGGAGGACCGG	0.483000													24	534					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56639366	56639366	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr12:56639366A>C	uc001skm.4	-	20	2289	c.2199T>G	c.(2197-2199)tgT>tgG	p.C733W		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	733							protein binding	p.C733W(3)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GGCAGTCCTCACAGCCAGTCA	0.592000													8	35					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45797830	45797830	+	Missense_Mutation	SNP	A	A	C	rs143610627		TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr20:45797830A>C	uc002xsm.3	+	10	1396	c.1022A>C	c.(1021-1023)aAt>aCt	p.N341T	EYA2_uc010ghp.3_Missense_Mutation_p.N341T|EYA2_uc002xsq.3_Missense_Mutation_p.N311T	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	341					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	p.N341T(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TCAGATGACAATGGCCAAGAT	0.428000													43	196					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72054698	72054698	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr14:72054698C>T	uc001xms.3	+	1	470	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	SIPA1L1_uc001xmt.3_Missense_Mutation_p.R37W|SIPA1L1_uc001xmu.3_Missense_Mutation_p.R37W|SIPA1L1_uc001xmv.3_Missense_Mutation_p.R37W	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	37					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.R37W(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTTCTACATGCGGCGCTTCCG	0.547000													7	190					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79409621	79409621	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr17:79409621G>A	uc002kaf.2	+	3	1060	c.1060G>A	c.(1060-1062)Gtg>Atg	p.V354M	BAHCC1_uc002kae.2_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	416							DNA binding	p.V416M(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			GGCCTGTGCCGTGGCAGGGGA	0.701000													6	11					0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152748963	152748963	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr1:152748963C>T	uc010pdv.2	+	0	116	c.116C>T	c.(115-117)cCt>cTt	p.P39L		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	39	Pro-rich.				keratinization			p.P39L(2)|p.P39A(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			aagtgccctccTGTCTCTTCC	0.672000													13	84					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139201586	139201586	+	Silent	SNP	G	G	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr5:139201586G>A	uc003leu.1	+	5	1411	c.1206G>A	c.(1204-1206)tcG>tcA	p.S402S		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	402	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.S402S(2)|p.S402L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCACTTCGGAAGGTATGG	0.637000													9	82					0	0	1	0	0
ZNF181	339318	broad.mit.edu	37	19	35232875	35232875	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr19:35232875C>G	uc002nvu.3	+	3	2052	c.1589C>G	c.(1588-1590)tCa>tGa	p.S530*	ZNF181_uc010xsb.1_Nonsense_Mutation_p.S529*|ZNF181_uc010xsc.1_Nonsense_Mutation_p.S465*	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S466*(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGCAAAGGCTCAAATCTTACT	0.388000													5	201					0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	101013167	101013167	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr15:101013167C>A	uc002bwa.3	-	10	1304	c.733G>T	c.(733-735)Gtg>Ttg	p.V245L	CERS3_uc002bvz.3_Missense_Mutation_p.V234L|CERS3_uc002bwb.3_Missense_Mutation_p.V234L	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	234	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	p.V234L(1)									ACAATCATCACGAGGGTCCCA	0.438000													18	149					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34458923	34458923	+	Silent	SNP	A	A	G			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr20:34458923A>G	uc002xek.1	+	7	1080	c.969A>G	c.(967-969)ttA>ttG	p.L323L	PHF20_uc002xei.1_Silent_p.L323L|PHF20_uc010gfo.1_Silent_p.L323L|PHF20_uc002xej.1_Silent_p.L207L	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	p.L323L(2)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					ACAAAGACTTATCGAGGAGAC	0.423000													7	149					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100199303	100199303	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr2:100199303G>C	uc002taf.3	-	15	2969	c.2825C>G	c.(2824-2826)cCt>cGt	p.P942R	AFF3_uc002tag.3_Missense_Mutation_p.P917R|AFF3_uc010fiq.1_Missense_Mutation_p.P917R|AFF3_uc010yvr.1_Missense_Mutation_p.P1070R|AFF3_uc002tah.1_Missense_Mutation_p.P942R	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	917					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P942R(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GTCGGCCTTAGGCTTTTTGCT	0.478000													8	158					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152639275	152639275	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr6:152639275T>C	uc021zhb.1	-	83	16736	c.16513A>G	c.(16513-16515)Act>Gct	p.T5505A	SYNE1_uc003qos.4_Missense_Mutation_p.T29A|SYNE1_uc003qot.4_Missense_Mutation_p.T5434A|SYNE1_uc003qou.4_Missense_Mutation_p.T5505A|SYNE1_uc010kiz.3_Missense_Mutation_p.T1260A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5505					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.T5505A(4)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAAGTTCAGTCAGTTTTCCT	0.448000										HNSCC(10;0.0054)			9	188					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24998071	24998071	+	Silent	SNP	G	G	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr1:24998071G>A	uc001bjm.3	+	15	2819	c.2595G>A	c.(2593-2595)gcG>gcA	p.A865A	SRRM1_uc010oel.2_Silent_p.A877A|SRRM1_uc009vri.1_Silent_p.A794A	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	865	Ala-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding	p.A865A(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CAGTGGCAGCGCCAGAGCCGA	0.483000													7	60					0	0	1	0	0
FASTKD2	22868	broad.mit.edu	37	2	207636634	207636634	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr2:207636634delA	uc002vbu.3	+	4	1417	c.1007delA	c.(1006-1008)gaafs	p.E336fs	FASTKD2_uc002vbv.3_Frame_Shift_Del_p.E336fs|FASTKD2_uc002vbx.3_Frame_Shift_Del_p.E336fs|FASTKD2_uc002vbw.1_Frame_Shift_Del_p.E336fs	NM_001136193	NP_055744	Q9NYY8	FAKD2_HUMAN	Homo sapiens FAST kinase domains 2 (FASTKD2), transcript variant 2, mRNA.	336					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		GCCTTGAGGGAATTAGACAGA	0.318													38	164	---	---	---	---					
FRG1	2483	broad.mit.edu	37	4	190873437	190873439	+	In_Frame_Del	DEL	AAG	-	-			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr4:190873437_190873439delAAG	uc003izs.3	+	2	445_447	c.254_256delAAG	c.(253-258)aaagaa>aaa	p.E86del		NM_004477	NP_004468	Q14331	FRG1_HUMAN	Homo sapiens FSHD region gene 1 (FRG1), mRNA.	86					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GCTCCACACAAAGAAGGTTTGTG	0.414													7	236	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113275870	113275870	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr8:113275870delA	uc003ynu.3	-	60	10019	c.9860delT	c.(9859-9861)ttafs	p.L3287fs	CSMD3_uc003yns.3_Frame_Shift_Del_p.L2489fs|CSMD3_uc003ynt.3_Frame_Shift_Del_p.L3247fs|CSMD3_uc011lhx.2_Frame_Shift_Del_p.L3118fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3287	Sushi 25.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATACTTACGTAAGCACTGCGG	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	58	---	---	---	---					
MED17	9440	broad.mit.edu	37	11	93529637	93529637	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr11:93529637delT	uc001pem.4	+	6	1349	c.1074delT	c.(1072-1074)gctfs	p.A358fs		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	Homo sapiens mediator complex subunit 17 (MED17), mRNA.	358					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAAATTTGCTACTGAGAAGC	0.358													45	214	---	---	---	---					
CUL5	8065	broad.mit.edu	37	11	107965657	107965658	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr11:107965657_107965658insA	uc001pjv.3	+	14	2353_2354	c.1686_1687insA	c.(1684-1689)tacaaafs	p.Y562fs	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	562					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AAGAATTCTACAAAAAAAATCA	0.371													9	133	---	---	---	---					
NEDD4L	23327	broad.mit.edu	37	18	55992284	55992286	+	In_Frame_Del	DEL	TCC	-	-			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr18:55992284_55992286delTCC	uc002lgy.3	+	8	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_uc002lgz.3_In_Frame_Del_p.P194del|NEDD4L_uc002lgx.3_In_Frame_Del_p.P194del|NEDD4L_uc010xee.1_In_Frame_Del_p.P73del|NEDD4L_uc002lhc.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhd.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhb.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhe.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhf.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhg.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhh.2_In_Frame_Del_p.P73del|NEDD4L_uc010dpm.1_In_Frame_Del_p.P45del	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	194	WW 1.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498													8	327	---	---	---	---					
NINL	22981	broad.mit.edu	37	20	25436392	25436392	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr20:25436392delC	uc002wux.1	-	22	3948	c.3874delG	c.(3874-3876)gaafs	p.E1292fs	NINL_uc010gdn.1_Frame_Shift_Del_p.E943fs|NINL_uc002wuw.1_Frame_Shift_Del_p.E83fs	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	1292					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						ACCCGCTCTTCTGTGGCTTTC	0.527													11	428	---	---	---	---					
GAGE2B	645037	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	TAT	TAT			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chrX:49208295_49208296insTAT	uc004dnv.4	+	1	140_141	c.24_25insTAT	c.(22-27)insTAT	p.9_10insY	GAGE2B_uc004dnl.4_Intron|GAGE2B_uc022bwc.1_Intron|GAGE2B_uc011mne.2_Intron|GAGE2B_uc004dnn.4_Intron|GAGE2B_uc011mnf.2_Intron|GAGE2B_uc004dnq.4_Intron|GAGE2B_uc004dnr.4_Intron|GAGE2B_uc004dnk.4_Intron|GAGE2B_uc004dno.4_Intron|GAGE2B_uc004dnp.4_Intron|GAGE2B_uc010njc.3_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnt.4_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnu.4_In_Frame_Ins_p.9_10insY	NM_001127212	NP_001091881			Homo sapiens G antigen 2A (GAGE2A), mRNA.																		GAAGATCGACCTATCGGCCTAG	0.465													8	30	---	---	---	---					
