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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LYZL4	131375	broad.mit.edu	37	3	42448399	42448399	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr3:42448399C>A	uc003cle.3	-	2	480	c.231G>T	c.(229-231)caG>caT	p.Q77H		NM_144634	NP_653235	Q96KX0	LYZL4_HUMAN	Homo sapiens lysozyme-like 4 (LYZL4), mRNA.	77					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TGCCACGCATCTGAAAGAGGC	0.577000														224			70		2.72615e-36	3.04479e-36	1	1	0
NUAK1	9891	broad.mit.edu	37	12	106460608	106460608	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr12:106460608G>A	uc001tlj.1	-	6	3338	c.1958C>T	c.(1957-1959)gCg>gTg	p.A653V		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	653							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GATCTCCAGCGCTTGCTTGTA	0.632000														516			187		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106918737	106918737	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr10:106918737C>A	uc001kyi.1	+	10	1944	c.1717C>A	c.(1717-1719)Ctt>Att	p.L573I		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	573						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGCCCCAGGACTTGTGGTGGC	0.433000														293			66		7.05995e-25	7.78405e-25	1	1	0
CYP4F22	126410	broad.mit.edu	37	19	15651359	15651359	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:15651359G>A	uc002nbh.4	+	7	937	c.770G>A	c.(769-771)cGc>cAc	p.R257H		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	257						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						ATTTACTACCGCTCGGCGGAT	0.582000														282			202		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139918629	139918629	+	Silent	SNP	A	G	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:139918629A>G	uc003lfs.2	+	32	7684	c.7530A>G	c.(7528-7530)aaA>aaG	p.K2510K	ANKHD1-EIF4EBP3_uc003lfr.3_Silent_p.K2510K|ANKHD1-EIF4EBP3_uc011czh.1_Silent_p.K1266K|ANKHD1-EIF4EBP3_uc003lfw.3_Silent_p.K1165K|ANKHD1-EIF4EBP3_uc010jfl.3_Silent_p.K886K|ANKHD1-EIF4EBP3_uc003lfx.1_Silent_p.K655K	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	2510						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATGATAAAAGTTATCCAAA	0.403000														278			73		0	0	1	0	0
NBPF16	728936	broad.mit.edu	37	1	148753341	148753341	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:148753341T>G	uc010pba.1	+	11	1549	c.1358T>G	c.(1357-1359)cTg>cGg	p.L453R	NBPF16_uc009wkt.1_Missense_Mutation_p.L233R	NM_001102663	NP_001096133			Homo sapiens neuroblastoma breakpoint family, member 16 (NBPF16), mRNA.											breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4	all_hematologic(923;0.032)					TATCTTGAACTGCCTGACTTA	0.493000														131			88		0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49971707	49971707	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:49971707G>T	uc002pnt.3	+	14	2124	c.2008G>T	c.(2008-2010)Gac>Tac	p.D670Y	ALDH16A1_uc010yar.2_Missense_Mutation_p.D619Y|ALDH16A1_uc010yas.2_Missense_Mutation_p.D505Y|ALDH16A1_uc010yat.2_Missense_Mutation_p.D507Y	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA.	670							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GGTGTGTCCGGACGAGTGGCC	0.697000														669			241		1.34946e-99	1.5683e-99	1	1	0
GSN	2934	broad.mit.edu	37	9	124062285	124062285	+	Splice_Site	SNP	T	G	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:124062285T>G	uc004blf.1	+	1	205	c.144_splice	c.e1+2	p.R48_splice	GSN_uc004bld.1_Intron|GSN_uc010mvr.1_Intron|GSN_uc010mvq.1_Intron|GSN_uc010mvu.1_Intron|GSN_uc010mvt.1_Intron|GSN_uc010mvs.1_Intron|GSN_uc004ble.1_Intron|GSN_uc010mvv.1_Intron|GSN_uc011lyh.1_Intron|GSN_uc011lyi.1_Intron|GSN_uc011lyj.1_5'Flank	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	48					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gaggcgcgggtgagtgcccgg	0.697000														124			41		0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237195	29237195	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr14:29237195A>G	uc001wqe.3	+	0	909	c.710A>G	c.(709-711)aAg>aGg	p.K237R		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	237				K -> M (in Ref. 5; AAH50072).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TCCCTCAACAAGTGCTTCGTG	0.587000														151			92		0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														216			9		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139629165	139629165	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr8:139629165C>T	uc003yvd.3	-	53	4309	c.3862G>A	c.(3862-3864)Ggt>Agt	p.G1288S	COL22A1_uc011ljo.2_Missense_Mutation_p.G568S	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1288	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCCGGGGACCGGGTGCACCA	0.587000										HNSCC(7;0.00092)				411			79		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99640770	99640770	+	Silent	SNP	G	A	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr14:99640770G>A	uc001yga.3	-	3	2670	c.2403C>T	c.(2401-2403)tgC>tgT	p.C801C	BCL11B_uc001ygb.3_Silent_p.C730C	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	801						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ACACCTTGCCGCAGTACTCGC	0.721000			T	TLX3	T-ALL									103			27		0	0	1	0	0
LMX1B	4010	broad.mit.edu	37	9	129455511	129455511	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:129455511G>A	uc011maa.2	+	3	657	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	LMX1B_uc004bqi.3_Missense_Mutation_p.R217Q|LMX1B_uc004bqj.3_Missense_Mutation_p.R217Q	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN	Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.	194					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						AAGGACCCGCGGAGGCCCAAG	0.652000									Nail-Patella Syndrome					81			7		0	0	1	0	0
STAP2	55620	broad.mit.edu	37	19	4329963	4329963	+	Silent	SNP	T	G	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:4329963T>G	uc002mab.3	-	4	641	c.450A>C	c.(448-450)acA>acC	p.T150T	STAP2_uc002mac.3_Silent_p.T150T|STAP2_uc021unb.1_Silent_p.T150T|STAP2_uc021unc.1_Silent_p.T150T|STAP2_uc002mad.3_Silent_p.T43T	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN	Homo sapiens signal transducing adaptor family member 2 (STAP2), transcript variant 2, mRNA.	150	SH2.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCACGAGGGTGTCTCCAGTG	0.642000														105			19		0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42797190	42797190	+	Silent	SNP	C	A	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:42797190C>A	uc002otf.1	+	14	3592	c.3552C>A	c.(3550-3552)atC>atA	p.I1184I		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1184	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGGCAGCCATCGCCAGCATTC	0.662000			"""Mis, F, S"""		oligodendroglioma									165			70		9.21137e-24	1.00276e-23	1	1	0
ANXA7	310	broad.mit.edu	37	10	75156930	75156930	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr10:75156930G>A	uc001jtz.2	-	3	435	c.362C>T	c.(361-363)cCa>cTa	p.P121L	ANXA7_uc001jua.2_Missense_Mutation_p.P121L|ANXA7_uc010qki.1_Intron|ANXA7_uc009xre.3_Missense_Mutation_p.P50L|ANXA7_uc009xrf.1_Intron	NM_004034	NP_004025	P20073	ANXA7_HUMAN	Homo sapiens annexin A7 (ANXA7), transcript variant 2, mRNA.	121	Repeat-rich region.						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					ACCAGGTAGTGGAACCTGTGC	0.453000														88			40		0	0	1	0	0
CDK14	5218	broad.mit.edu	37	7	90356126	90356126	+	Splice_Site	SNP	G	C	C	rs55722725		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:90356126G>C	uc003uky.2	+	3	591	c.369_splice	c.e3+1	p.S123_splice	CDK14_uc003ukt.1_Splice_Site_p.S77_splice|CDK14_uc003ukv.1_Splice_Site_p.S77_splice|CDK14_uc003uku.1_Splice_Site_p.S77_splice|CDK14_uc003ukx.1_Intron|CDK14_uc003ukz.1_Splice_Site_p.S105_splice|CDK14_uc010les.1_Splice_Site_p.S77_splice|CDK14_uc011khl.1_Splice_Site_p.R26_splice	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	123					G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GCCCCAGCTCGGTAAGTGCAG	0.463000														306			199		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940448	22940448	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:22940448G>T	uc021urt.1	-	3	2418	c.2263C>A	c.(2263-2265)Cat>Aat	p.H755N		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.H664D(1)|p.F755I(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)				TCTGCAGTATGAATTACCTTA	0.353000														264			47		1.56989e-16	1.68764e-16	1	1	0
QARS	5859	broad.mit.edu	37	3	49136038	49136038	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr3:49136038C>A	uc003cvx.3	-	19	1956	c.1951G>T	c.(1951-1953)Gtc>Ttc	p.V651F	QARS_uc011bcc.2_Missense_Mutation_p.V104F|QARS_uc011bcd.2_Missense_Mutation_p.V506F|QARS_uc003cvy.3_Missense_Mutation_p.V506F|QARS_uc011bce.2_Missense_Mutation_p.V640F	NM_005051	NP_005042	P47897	SYQ_HUMAN	Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	651					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CTCACCTTGACAACATGCTGC	0.572000														104			27		9.04412e-07	9.4853e-07	1	1	0
GPR98	84059	broad.mit.edu	37	5	89971103	89971103	+	Silent	SNP	C	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:89971103C>T	uc003kju.3	+	23	5250	c.5154C>T	c.(5152-5154)gaC>gaT	p.D1718D	GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1718					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCCTAAGGACGCAATGACCC	0.527000														173			22		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187542860	187542860	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr4:187542860C>T	uc003izf.3	-	9	5068	c.4880G>A	c.(4879-4881)cGa>cAa	p.R1627Q		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1627	Cadherin 14.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGGTTACTTCGATCTAATTC	0.368000										HNSCC(5;0.00058)				108			35		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137653805	137653805	+	Missense_Mutation	SNP	C	T	T	rs149912828		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:137653805C>T	uc004cfe.3	+	18	2352	c.1970C>T	c.(1969-1971)cCg>cTg	p.P657L		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	657	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAGGACCTCCGGGAGACGAT	0.597000														321			48		0	0	1	0	0
SUGT1	10910	broad.mit.edu	37	13	53254258	53254258	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr13:53254258G>C	uc001vhc.2	+	12	1189	c.964G>C	c.(964-966)Gat>Cat	p.D322H	SUGT1_uc001vhb.2_Missense_Mutation_p.D290H|SUGT1_uc010thb.1_Missense_Mutation_p.D234H	NM_001130912	NP_001124384	Q9Y2Z0	SUGT1_HUMAN	Homo sapiens SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) (SUGT1), transcript variant 1B, mRNA.	322	SGS.				mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		AGATGGTTCTGATGAAGTGAA	0.313000														252			260		0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119029974	119029974	+	Splice_Site	SNP	G	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr10:119029974G>T	uc001ldd.2	+	15	1603	c.1440_splice	c.e15+1	p.M480_splice	SLC18A2_uc009xyy.2_Splice_Site_p.M277_splice	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	480					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AAGAAAAAATGGTAAGAAAAA	0.363000														340			70		7.46257e-40	8.44448e-40	1	1	0
INSR	3643	broad.mit.edu	37	19	7117089	7117089	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:7117089A>C	uc002mgd.1	-	21	4236	c.4127T>G	c.(4126-4128)tTg>tGg	p.L1376W	INSR_uc002mge.1_Missense_Mutation_p.L1364W	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1376					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGACCGAGGCAAGGTCAGAAT	0.567000														563			147		0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39383071	39383071	+	Silent	SNP	C	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:39383071C>T	uc003jlx.3	-	9	1521	c.990G>A	c.(988-990)ccG>ccA	p.P330P	DAB2_uc003jlw.3_Silent_p.P309P	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	330					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CATTACTCAGCGGAGTAGACG	0.483000														485			97		0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	A	A	rs121913388		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:21971120G>A	uc003zpk.3	-	1	544	c.238C>T	c.(238-240)Cga>Tga	p.R80*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.R80*|CDKN2A_uc003zpl.3_Missense_Mutation_p.P94L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.R80*(200)|p.?(44)|p.P135L(7)|p.T79fs*37(2)|p.R80Q(2)|p.T79fs*65(2)|p.E61_L94del(2)|p.R80fs*34(2)|p.R80?(2)|p.T79I(2)|p.L65fs*38(1)|p.0(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.A68fs*3(1)|p.T79T(1)|p.R80L(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				50			38		0	0	1	0	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	C	C			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000														64			5		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87195527	87195527	+	Silent	SNP	A	G	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:87195527A>G	uc003uiz.2	-	7	1054	c.561T>C	c.(559-561)ggT>ggC	p.G187G	ABCB1_uc011khc.2_Silent_p.G123G	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	187	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CAATTTTGTCACCAATTCCTT	0.363000														401			91		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000														345			26		0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36018407	36018407	+	Silent	SNP	T	C	C			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:36018407T>C	uc002oad.2	-	0	847	c.777A>G	c.(775-777)agA>agG	p.R259R	SBSN_uc002oae.2_Intron|SBSN_uc021usp.1_Intron	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	132						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGGCCAAATCTCCCTGCCT	0.627000														67			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179537144	179537144	+	Silent	SNP	G	A	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:179537144G>A	uc021vsy.1	-	148	31242	c.31017C>T	c.(31015-31017)ccC>ccT	p.P10339P	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.P7000P|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11266	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			CTTTAGCTGGGGGAACAGCTT	0.338000														560			336		0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31200485	31200485	+	Silent	SNP	C	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:31200485C>T	uc002ebf.3	+	8	979	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	FUS_uc002ebe.2_Silent_p.L288L|FUS_uc002ebg.3_Silent_p.L87L|FUS_uc002ebh.3_Silent_p.L291L|FUS_uc010caj.1_Intron	NM_004960	NP_004951	P35637	FUS_HUMAN	Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.	292	RRM.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding	p.L292L(1)	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TGTGCAAGGCCTGGGTGAGAA	0.388000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""									723			172		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508944	106508944	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:106508944C>T	uc003vdv.4	+	1	1023	c.938C>T	c.(937-939)cCg>cTg	p.P313L	PIK3CG_uc003vdu.3_Missense_Mutation_p.P313L|PIK3CG_uc003vdw.3_Missense_Mutation_p.P313L	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	313					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			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						CCTCCAGACCCGGCCCTAGAC	0.587000														304			64		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55148429	55148429	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:55148429G>A	uc010ooe.1	+	13	2806	c.2482G>A	c.(2482-2484)Gtc>Atc	p.V828I	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.V396I|HEATR8_uc010ood.1_Missense_Mutation_p.V346I|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.V828I|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Intron|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.V30I	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	828						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGAGAAGCCCGTCACCAAGGA	0.622000														200			66		0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2659	2659	+	RNA	SNP	C	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chrGL000237.1:2659C>T	uc011mgu.1	-	0		c.28G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		agcagctcagcgggagatacc	0.582000														40			7		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089365	86089365	+	Missense_Mutation	SNP	G	A	A	rs149005998		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr14:86089365G>A	uc021rxf.1	+	0	1507	c.1507G>A	c.(1507-1509)Gcg>Acg	p.A503T	FLRT2_uc001xvr.3_Missense_Mutation_p.A503T|FLRT2_uc010atd.3_Missense_Mutation_p.A503T	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	503	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.A503A(2)|p.R502S(1)|p.A503V(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TAACTACCGCGCGGTAGAAGA	0.537000														481			311		0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165809905	165809905	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:165809905G>A	uc003qun.3	-	14	1537	c.1292C>T	c.(1291-1293)aCg>aTg	p.T431M	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.T361M|PDE10A_uc003quo.3_Missense_Mutation_p.T441M	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	431					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.T431M(2)|p.T431T(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CTTTTCCATCGTTACCCGGTA	0.393000														436			165		0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904069	21904069	+	RNA	SNP	C	G	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr17:21904069C>G	uc002gza.2	+	0		c.8C>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		tccgaggctccggcctgacct	0.662000														50			9		0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883256	19883256	+	Silent	SNP	C	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:19883256C>T	uc010vav.2	-	1	1221	c.990G>A	c.(988-990)acG>acA	p.T330T	GPRC5B_uc021tef.1_Silent_p.T296T|GPRC5B_uc002dgt.3_Silent_p.T304T	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	304										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGTAGTTGGGCGTGTTCTCCT	0.637000														321			66		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49019292	49019292	+	Silent	SNP	T	C	C			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr4:49019292T>C	uc003gyv.3	+	8	1395	c.1213T>C	c.(1213-1215)Ttg>Ctg	p.L405L	CWH43_uc011bzl.2_Silent_p.L378L	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	405					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TGGTGTGGGATTGTTGGGATT	0.308000														219			78		0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9853827	9853827	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr11:9853827C>T	uc001mib.2	-	26	3734	c.3596G>A	c.(3595-3597)gGa>gAa	p.G1199E		NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	1199	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCCATGGAATCCTCCAGATCG	0.483000														226			75		0	0	1	0	0
SLC30A1	7779	broad.mit.edu	37	1	211751575	211751575	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:211751575T>A	uc001hio.1	-	0	525	c.380A>T	c.(379-381)aAc>aTc	p.N127I		NM_021194	NP_067017	Q9Y6M5	ZNT1_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 1 (SLC30A1), mRNA.	127					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	T-tubule|integral to membrane	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		CCCCAGCACGTTGACCAGCAG	0.701000														67			20		0	0	1	0	0
ARMCX1	51309	broad.mit.edu	37	X	100808322	100808322	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chrX:100808322A>G	uc022cak.1	+	0	409	c.409A>G	c.(409-411)Acc>Gcc	p.T137A	ARMCX1_uc004ehv.3_Missense_Mutation_p.T137A|ARMCX1_uc004ehw.3_Missense_Mutation_p.T137A	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	Homo sapiens armadillo repeat containing, X-linked 1 (ARMCX1), mRNA.	137						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						TGGGAACAGGACCCTTGCACC	0.612000														262			101		0	0	1	0	0
BCRP3	644165	broad.mit.edu	37	22	25045855	25045855	+	Silent	SNP	G	A	A	rs738818	by1000genomes	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr22:25045855G>A	uc011ajv.2	+	5	936	c.579G>A	c.(577-579)agG>agA	p.R193R	POM121L10P_uc003abc.2_Intron					Homo sapiens breakpoint cluster region pseudogene 3 (BCRP3), non-coding RNA.																		GGTCAATAAGGTGTCCCTGCA	0.632000														87			5		0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68044761	68044761	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr14:68044761G>A	uc001xjl.1	+	18	2738	c.2596G>A	c.(2596-2598)Gtg>Atg	p.V866M	PLEKHH1_uc010tsw.1_Missense_Mutation_p.V434M|PLEKHH1_uc001xjn.1_Missense_Mutation_p.V381M|PLEKHH1_uc010tsx.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	866	MyTH4.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CTTCATCAACGTGCCGGTGGA	0.597000														324			181		0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44801069	44801069	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:44801069T>G	uc003tlr.3	+	9	1385	c.1262T>G	c.(1261-1263)tTg>tGg	p.L421W	ZMIZ2_uc003tlq.3_Missense_Mutation_p.L363W|ZMIZ2_uc003tls.3_Missense_Mutation_p.L395W|ZMIZ2_uc003tlt.3_Missense_Mutation_p.L44W|ZMIZ2_uc010kyj.3_5'UTR	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	421					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGTGACGAGTTGCGGCTGACC	0.637000														280			56		0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34546711	34546711	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr15:34546711C>T	uc001zhw.3	-	7	1120	c.956G>A	c.(955-957)cGt>cAt	p.R319H	SLC12A6_uc001zhv.3_Missense_Mutation_p.R268H|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Missense_Mutation_p.R304H|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Missense_Mutation_p.R260H|SLC12A6_uc001zib.3_Missense_Mutation_p.R310H|SLC12A6_uc001zic.3_Missense_Mutation_p.R319H|SLC12A6_uc010bau.3_Missense_Mutation_p.R319H|SLC12A6_uc001zid.3_Missense_Mutation_p.R260H|SLC12A6_uc001zhu.3_Missense_Mutation_p.R131H	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	319					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCCGTAGACACGCATGTTATT	0.453000														254			17		0	0	1	0	0
PLEKHA3	65977	broad.mit.edu	37	2	179368599	179368599	+	Silent	SNP	A	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:179368599A>T	uc002umn.3	+	7	1286	c.888A>T	c.(886-888)ccA>ccT	p.P296P	MIR548N_uc021vsx.1_Intron	NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 (PLEKHA3), mRNA.	296						cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			ATACTCTTCCATCCTTCTCTT	0.363000														307			53		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32038177	32038177	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:32038177C>T	uc003nzl.2	-	13	5207	c.5005G>A	c.(5005-5007)Gcc>Acc	p.A1669T		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1751	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTGGGCTGGCGTCACCTCGG	0.607000														75			27		0	0	1	0	0
HMMR	3161	broad.mit.edu	37	5	162901193	162901193	+	Silent	SNP	A	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:162901193A>T	uc003lzh.3	+	9	1217	c.1035A>T	c.(1033-1035)tcA>tcT	p.S345S	HMMR_uc003lzf.3_Silent_p.S344S|HMMR_uc003lzg.3_Silent_p.S329S|HMMR_uc011dem.2_Silent_p.S258S	NM_001142556	NP_001136028	O75330	HMMR_HUMAN	Homo sapiens hyaluronan-mediated motility receptor (RHAMM) (HMMR), transcript variant 1, mRNA.	344						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		AAATTGATTCACTTCTGCAAC	0.303000														170			25		0	0	1	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136594144	136594144	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr8:136594144G>A	uc003yuv.3	+	5	1029	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	KHDRBS3_uc003yuw.3_Missense_Mutation_p.R212Q|KHDRBS3_uc010mek.3_Non-coding_Transcript	NM_006558	NP_006549	O75525	KHDR3_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 3 (KHDRBS3), mRNA.	212	Interaction with SIAH1.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	p.A211V(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GTTACAGCCCGGCCAGTTGGA	0.502000														524			84		0	0	1	0	0
CEACAM3	1084	broad.mit.edu	37	19	42312866	42312866	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:42312866G>A	uc002orn.1	+	2	516	c.440G>A	c.(439-441)gGc>gAc	p.G147D	CEACAM3_uc010eia.1_Missense_Mutation_p.G147D|CEACAM3_uc002oro.1_Non-coding_Transcript	NM_001815	NP_001806	P40198	CEAM3_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA.	147						integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						AATGCCCCAGGCCTTCCTGTG	0.612000														612			315		0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64984898	64984898	+	Missense_Mutation	SNP	G	A	A	rs147033764		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:64984898G>A	uc002eoi.3	-	11	2100	c.1666C>T	c.(1666-1668)Cgg>Tgg	p.R556W	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_Missense_Mutation_p.R556W|CDH11_uc010vin.2_Missense_Mutation_p.R430W	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	556	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.A555S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCTCCACGCCGGGCGTACACG	0.592000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				204			39		0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29908310	29908310	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:29908310G>T	uc010vec.2	-	2	589	c.344C>A	c.(343-345)gCa>gAa	p.A115E	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Intron|SEZ6L2_uc002dur.4_Intron|SEZ6L2_uc002duq.4_Missense_Mutation_p.A115E|SEZ6L2_uc010ved.2_Missense_Mutation_p.A71E|SEZ6L2_uc002dus.4_Missense_Mutation_p.A115E	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	115	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGTGGGGCCTGCCCCCCTGAC	0.736000														48			4		0.000602214	0.000609299	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	A	A	rs121913530		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr12:25398285C>A	uc001rgp.1	-	1	215	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8564)|p.G12C(5976)|p.G12V(5758)|p.G12S(2576)|p.G12R(1579)|p.G12A(1401)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G10_A11insG(5)|p.A11_G12insGA(4)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.G12E(3)|p.A11P(2)|p.G12fs*3(1)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				66			156		1.4734e-65	1.6895e-65	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176759114	176759114	+	Splice_Site	SNP	G	C	C			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:176759114G>C	uc001gkz.3	+	18	6048	c.4884_splice	c.e18+1	p.K1628_splice	PAPPA2_uc009www.3_Splice_Site	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1628	Sushi 4.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACGTGAAAAGGTAAGGAACAT	0.418000														517			129		0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	G	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:20414343A>G	uc003zoe.2	-	4	760	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(38)|p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL									229			13		0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129735831	129735831	+	Silent	SNP	C	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr11:129735831C>T	uc001qfg.3	-	22	3775	c.3654G>A	c.(3652-3654)caG>caA	p.Q1218Q	NFRKB_uc001qfi.3_Silent_p.Q1193Q|NFRKB_uc001qfh.3_Silent_p.Q1216Q|NFRKB_uc009zcr.3_Silent_p.Q479Q	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	1193					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CCTTCATTGGCTGGCTGATCA	0.498000														330			52		0	0	1	0	0
CNTD2	79935	broad.mit.edu	37	19	40729348	40729348	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:40729348C>A	uc010xvi.2	-	3	668	c.619G>T	c.(619-621)Ggc>Tgc	p.G207C	CNTD2_uc002ond.3_Non-coding_Transcript	NM_024877	NP_079153	B4DX65	B4DX65_HUMAN	Homo sapiens cyclin N-terminal domain containing 2 (CNTD2), transcript variant 2, mRNA.	207					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						AGCAGCGGGCCGGGGTGGTGC	0.726000														90			31		6.38683e-12	6.78108e-12	1	1	0
ZNF675	171392	broad.mit.edu	37	19	23836431	23836431	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:23836431C>T	uc002nri.3	-	3	1486	c.1304G>A	c.(1303-1305)cGa>cAa	p.R435Q		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	Homo sapiens zinc finger protein 675 (ZNF675), mRNA.	435					I-kappaB kinase/NF-kappaB cascade|bone resorption|cytokine-mediated signaling pathway|hemopoiesis|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTTTGAGGATCGGTTAAAAGC	0.378000														216			140		0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46494559	46494559	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:46494559delT	uc001cov.3	+	17	2455	c.2172delT	c.(2170-2172)cctfs	p.P724fs	MAST2_uc001cow.3_Frame_Shift_Del_p.P724fs|MAST2_uc001coy.1_Frame_Shift_Del_p.P398fs|MAST2_uc001coz.1_Frame_Shift_Del_p.P609fs|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	724	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GCTGCGTCCCTTTTTTTGGAG	0.552													---	1137	---	---	7	---					
CYP4Z2P	163720	broad.mit.edu	37	1	47325282	47325282	+	RNA	DEL	A	-	-	rs10712628		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:47325282delA	uc001cqo.1	-	8		c.1286delT								Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		ATTTCAATCCAAACATAGCTG	0.393													---	158	---	---	10	---					
CCDC18	343099	broad.mit.edu	37	1	93667515	93667516	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:93667515_93667516insA	uc021opx.1	+	6	926_927	c.765_766insA	c.(763-768)tataaafs	p.Y255fs		NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	255								p.V377fs*15(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCCAACAATATAAAAAAAAAGT	0.317													---	216	---	---	11	---					
LOC100286793	100286793	broad.mit.edu	37	1	143744438	143744446	+	RNA	DEL	AGGAGGAGA	-	-	rs71661952		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:143744438_143744446delAGGAGGAGA	uc001ejp.3	-	0		c.142_150delTCTCCTCCT			LOC100286793_uc001ejr.4_Non-coding_Transcript|LOC100286793_uc009whx.2_Non-coding_Transcript|LOC100286793_uc009why.2_Non-coding_Transcript					Homo sapiens uncharacterized LOC100286793 (LOC100286793), non-coding RNA.																		CCTGGGTGAgaggaggagaaggaggagga	0.565													---	81	---	---	8	---					
MCL1	4170	broad.mit.edu	37	1	150551492	150551494	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:150551492_150551494delTCC	uc001euz.3	-	0	721_723	c.513_515delGGA	c.(511-516)gaggac>gac	p.E171del	MCL1_uc010pch.2_In_Frame_Del_p.E61del|MCL1_uc021oyf.1_Intron|MCL1_uc001eva.3_In_Frame_Del_p.E171del	NM_021960	NP_068779	Q07820	MCL1_HUMAN	Homo sapiens myeloid cell leukemia sequence 1 (BCL2-related) (MCL1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	171	PEST-like.				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTACAACTCGTCCTCCTCCTCCT	0.635													---	572	---	---	13	---					
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:162326888_162326890delCAG	uc001gbv.2	+	7	1288_1290	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_uc010pkr.1_In_Frame_Del_p.Q301del|NOS1AP_uc001gbw.2_In_Frame_Del_p.Q301del|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	306	Poly-Gln.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611													---	442	---	---	8	---					
SCYL3	57147	broad.mit.edu	37	1	169833511	169833511	+	Splice_Site	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:169833511delT	uc001ggs.2	-	9	1153	c.955_splice	c.e9+1	p.D319_splice	SCYL3_uc010plw.1_Splice_Site|SCYL3_uc001ggt.2_Splice_Site_p.D319_splice	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	319					cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCATTCACCTTTTTTGGGGC	0.393													---	737	---	---	7	---					
GPR37L1	9283	broad.mit.edu	37	1	202097525	202097527	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:202097525_202097527delCTG	uc001gxj.3	+	1	1350_1352	c.1287_1289delCTG	c.(1285-1290)gactgc>gac	p.C436del		NM_004767	NP_004758	O60883	ETBR2_HUMAN	Homo sapiens G protein-coupled receptor 37 like 1 (GPR37L1), mRNA.	436	Cys-rich.					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCTTCCTGGActgctgctgctgc	0.626													---	204	---	---	8	---					
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:26022304_26022306delCTG	uc002rgs.2	-	3	572_574	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S		NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	117	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463													---	917	---	---	10	---					
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:29295647_29295649delTCC	uc002rmt.2	-	0	1479_1481	c.1479_1481delGGA	c.(1477-1482)gaggaa>gaa	p.493_494EE>E		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	493					response to stimulus|visual perception	photoreceptor outer segment		p.E492K(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542													---	1004	---	---	8	---					
PSME4	23198	broad.mit.edu	37	2	54093344	54093345	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:54093344_54093345insT	uc002rxp.2	-	45	5469_5470	c.5413_5414insA	c.(5413-5415)accfs	p.T1805fs	PSME4_uc010yop.1_Frame_Shift_Ins_p.T1695fs|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Frame_Shift_Ins_p.T1180fs|PSME4_uc010fbv.1_Frame_Shift_Ins_p.T949fs|PSME4_uc010fbt.1_Frame_Shift_Ins_p.T240fs	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1805					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.T1691fs*>39(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATTGGATAAGGTTTTTTTTACA	0.401													---	877	---	---	8	---					
MRPS5	64969	broad.mit.edu	37	2	95775728	95775728	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:95775728delT	uc002sub.3	-	3	554	c.336delA	c.(334-336)aaafs	p.K112fs	MRPS5_uc002suc.3_Non-coding_Transcript|MRPS5_uc010yud.1_Frame_Shift_Del_p.K112fs	NM_031902	NP_114108	P82675	RT05_HUMAN	Homo sapiens mitochondrial ribosomal protein S5 (MRPS5), nuclear gene encoding mitochondrial protein, mRNA.	112					translation	mitochondrion|ribosome	RNA binding|protein binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TGCCTCTTCCTTTTTTTGCTC	0.383													---	930	---	---	9	---					
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:96992793_96992795delGAG	uc002svy.3	+	0	859_861	c.448_450delGAG	c.(448-450)gagdel	p.E155del	ITPRIPL1_uc002svx.3_In_Frame_Del_p.E147del|ITPRIPL1_uc010yuk.2_In_Frame_Del_p.E139del|ITPRIPL1_uc010yul.2_In_Frame_Del_p.E139del	NM_178495	NP_001156996	Q6GPH6	IPIL1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 1 (ITPRIPL1), transcript variant 1, mRNA.	147						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532													---	509	---	---	9	---					
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:98427639delT	uc002syh.4	-	17	2149	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	640						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393													---	1567	---	---	11	---					
IL1R2	7850	broad.mit.edu	37	2	102638648	102638649	+	Splice_Site	INS	-	A	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:102638648_102638649insA	uc002tbm.3	+	6	918	c.689_splice	c.e6-1	p.K230_splice	IL1R2_uc002tbn.3_Splice_Site_p.K230_splice|IL1R2_uc002tbo.1_Splice_Site_p.K230_splice	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	230					immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	ATCTTTCTCAGAAAAAAAAGAA	0.441													---	909	---	---	8	---					
SLC9A4	389015	broad.mit.edu	37	2	103149137	103149137	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:103149137delA	uc002tbz.4	+	11	2844	c.2387delA	c.(2386-2388)caafs	p.Q796fs		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	796					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTTGCTCCAAAAAAAATAG	0.473													---	233	---	---	10	---					
SULT1C3	442038	broad.mit.edu	37	2	108863685	108863685	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:108863685delA	uc010ywo.2	+	0	35	c.35delA	c.(34-36)gaafs	p.E12fs		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	12						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCCACGATGGAAAAAAAGCCA	0.353													---	700	---	---	10	---					
RANBP2	5903	broad.mit.edu	37	2	109380485	109380487	+	In_Frame_Del	DEL	GAT	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:109380485_109380487delGAT	uc002tem.4	+	19	3616_3618	c.3490_3492delGAT	c.(3490-3492)gatdel	p.D1168del		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1168					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGCCCATGGGGATGATGATGATG	0.424													---	961	---	---	8	---					
SCN9A	6335	broad.mit.edu	37	2	167055992	167055992	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:167055992delT	uc010fpl.3	-	26	5465	c.5124delA	c.(5122-5124)aaafs	p.K1708fs	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1719						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CAGGATGAACTTTTTTTGGGT	0.423													---	1954	---	---	10	---					
RBM45	129831	broad.mit.edu	37	2	178988920	178988920	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:178988920delA	uc002ulv.3	+	7	1227	c.1135delA	c.(1135-1137)aaafs	p.K379fs		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	Homo sapiens RNA binding motif protein 45 (RBM45), mRNA.	381					cell differentiation|nervous system development	cytoplasm|nucleus	RNA binding|nucleotide binding	p.A382fs*7(2)|p.?(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TCCATCATGCAAAAAAAAAGC	0.353													---	585	---	---	9	---					
ALS2CR11	151254	broad.mit.edu	37	2	202352352	202352352	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:202352352delT	uc002uyf.3	-	15	5498	c.5446delA	c.(5446-5448)attfs	p.I1816fs	ALS2CR11_uc002uye.3_Frame_Shift_Del_p.I619fs|ALS2CR11_uc010fti.3_3'UTR	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	619										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTCTTTTAATTTTTTTTGGC	0.323													---	562	---	---	9	---					
ZDBF2	57683	broad.mit.edu	37	2	207174869	207174869	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:207174869delA	uc002vbp.2	+	4	5867	c.5617delA	c.(5617-5619)aaafs	p.K1873fs		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1873							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTCGAAGGGGAAAAAAAAGGT	0.413													---	263	---	---	7	---					
EFHD1	80303	broad.mit.edu	37	2	233546363	233546365	+	In_Frame_Del	DEL	GGA	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:233546363_233546365delGGA	uc002vtc.3	+	3	862_864	c.654_656delGGA	c.(652-657)cgggag>cgg	p.E222del	EFHD1_uc010fyf.3_In_Frame_Del_p.E126del|EFHD1_uc002vtd.3_In_Frame_Del_p.E110del	NM_025202	NP_079478	Q9BUP0	EFHD1_HUMAN	Homo sapiens EF-hand domain family, member D1 (EFHD1), transcript variant 1, mRNA.	222							calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGCGGAAGCGGGAGGAGGAGGAG	0.547													---	658	---	---	7	---					
EDEM1	9695	broad.mit.edu	37	3	5248941	5248941	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr3:5248941delT	uc003bqi.3	+	6	1453	c.1321delT	c.(1321-1323)tttfs	p.F441fs	EDEM1_uc011asz.1_Frame_Shift_Del_p.F219fs|EDEM1_uc021wsl.1_Frame_Shift_Del_p.F246fs	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 1 (EDEM1), mRNA.	441					ER-associated protein catabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCTGCAGGCCTTTTTCCCTGG	0.463													---	632	---	---	8	---					
TMEM40	55287	broad.mit.edu	37	3	12790198	12790200	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr3:12790198_12790200delGAG	uc011auv.1	-	2	380_382	c.213_215delCTC	c.(211-216)tcctct>tct	p.71_72SS>S	TMEM40_uc003bxg.1_In_Frame_Del_p.55_56SS>S|TMEM40_uc003bxh.1_In_Frame_Del_p.55_56SS>S	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	Homo sapiens transmembrane protein 40 (TMEM40), mRNA.	55	Ser-rich.					integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						tgaggaggaagaggaggaggagg	0.419													---	875	---	---	7	---					
SGOL1	151648	broad.mit.edu	37	3	20216049	20216050	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr3:20216049_20216050insT	uc003cbu.3	-	5	1128_1129	c.973_974insA	c.(973-975)atgfs	p.M325fs	SGOL1_uc003cbw.3_Intron|SGOL1_uc003cbv.3_Intron|SGOL1_uc003cbt.3_Intron|SGOL1_uc010hfa.3_Intron|SGOL1_uc003cbs.3_Frame_Shift_Ins_p.M325fs|SGOL1_uc003cbr.3_Intron|SGOL1_uc003ccc.3_Intron|SGOL1_uc021wtx.1_Intron|SGOL1_uc021wty.1_Intron|SGOL1_uc003ccb.3_Intron|SGOL1_uc003cca.3_Frame_Shift_Ins_p.M325fs|SGOL1_uc003cby.3_Intron|SGOL1_uc003cbx.3_Intron|SGOL1_uc003cbz.3_Frame_Shift_Ins_p.M325fs	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN	Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.	325					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						AGATTTGTGCATTTTTTTTTGG	0.317													---	216	---	---	9	---					
CLASP2	23122	broad.mit.edu	37	3	33602361	33602361	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr3:33602361delT	uc021wvc.1	-	27	3104	c.2893delA	c.(2893-2895)atgfs	p.M965fs	CLASP2_uc003cfs.3_Frame_Shift_Del_p.M164fs|CLASP2_uc021wva.1_Frame_Shift_Del_p.M39fs|CLASP2_uc021wvb.1_Frame_Shift_Del_p.M744fs|CLASP2_uc011axt.1_Frame_Shift_Del_p.M557fs	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	966										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCAGCACCCATTTTTTTTAGT	0.343													---	659	---	---	13	---					
DLEC1	9940	broad.mit.edu	37	3	38162039	38162040	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr3:38162039_38162040delGA	uc003chp.1	+	33	4826_4827	c.4805_4806delGA	c.(4804-4806)ggafs	p.G1602fs	DLEC1_uc003cho.1_Frame_Shift_Del_p.G1602fs|DLEC1_uc010hgv.1_Frame_Shift_Del_p.G1605fs|DLEC1_uc003chr.1_Frame_Shift_Del_p.G673fs|DLEC1_uc003chs.1_Frame_Shift_Del_p.G159fs	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	1602					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGTGCGAGTGGAGAGAGAGAGA	0.579													---	298	---	---	7	---					
FOXP1	27086	broad.mit.edu	37	3	71247357	71247359	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr3:71247357_71247359delTGC	uc003dol.3	-	1	497_499	c.174_176delGCA	c.(172-177)cagcaa>caa	p.58_59QQ>Q	FOXP1_uc003dom.3_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc003doo.3_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc003dop.3_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc021xao.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc003doq.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc003dos.3_In_Frame_Del_p.58_59QQ>Q	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	58	Gln-rich.				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	DNA bending activity|chromatin binding|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			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)		CAGTACCTGTTGCTGCTGCTGCT	0.586			T	PAX5	ALL								---	506	---	---	8	---					
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr3:87027857_87027859delCTC	uc003dqn.3	-	1	584_586	c.220_222delGAG	c.(220-222)gagdel	p.E74del		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502													---	259	---	---	7	---					
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr4:4204225_4204229delTTGAG	uc003ghp.1	-	3	706_710	c.676_680delCTCAA	c.(676-681)ctcaatfs	p.L226fs		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	226					biomineral tissue development	extracellular space|integral to membrane		p.L226fs*1(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502													---	555	---	---	7	---					
PROM1	8842	broad.mit.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr4:15995680delT	uc003goo.2	-	14	1909	c.1697delA	c.(1696-1698)aatfs	p.N566fs	PROM1_uc003gor.2_Frame_Shift_Del_p.N566fs|PROM1_uc003gos.2_Frame_Shift_Del_p.N557fs|PROM1_uc003got.2_Frame_Shift_Del_p.N566fs|PROM1_uc003gou.2_Frame_Shift_Del_p.N557fs|PROM1_uc003gop.2_Frame_Shift_Del_p.N557fs|PROM1_uc003goq.3_Frame_Shift_Del_p.N557fs	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	566					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	p.N565N(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428													---	419	---	---	12	---					
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr4:46060358delA	uc003gxb.3	-	6	944	c.792delT	c.(790-792)tttfs	p.F264fs		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	264					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.F264fs*3(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TGCTCAGGTCAAAAAAAATTG	0.294													---	363	---	---	8	---					
CXXC4	80319	broad.mit.edu	37	4	105412465	105412467	+	Splice_Site	DEL	GCC	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr4:105412465_105412467delGCC	uc003hxg.3	-	1	1	c.-14_splice	c.e1-1		AK094561_uc003hxh.1_Intron|CXXC4_uc010ilo.3_Intron	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN	Homo sapiens CXXC finger protein 4 (CXXC4), mRNA.						Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGGTCCTgctgccgccgccgccg	0.695													---	360	---	---	9	---					
MAML3	55534	broad.mit.edu	37	4	140810639	140810641	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr4:140810639_140810641delGCT	uc021xsg.1	-	1	2701_2703	c.1949_1951delAGC	c.(1948-1953)cagccg>ccg	p.Q650del	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	646	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGAGGTGGCGgctgctgctgctg	0.586													---	297	---	---	9	---					
SORBS2	8470	broad.mit.edu	37	4	186544620	186544622	+	In_Frame_Del	DEL	GGT	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr4:186544620_186544622delGGT	uc003iyg.3	-	12	2323_2325	c.2291_2293delACC	c.(2290-2295)caccgc>cgc	p.H764del	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_In_Frame_Del_p.H750del|SORBS2_uc003iyl.3_In_Frame_Del_p.H650del|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_In_Frame_Del_p.H554del|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	650						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATGAggtggcggtggtggtggtg	0.522													---	302	---	---	7	---					
DUX2	26583	broad.mit.edu	37	4	190989660	190989660	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr4:190989660delC	uc021xvp.1	+	0	794	c.754delC	c.(754-756)cccfs	p.P252fs	DUX4L4_uc021xvq.1_5'Flank	NM_012147	NP_036279			Homo sapiens double homeobox 2 (DUX2), mRNA.																		AACGGGGCTTCCCGCACCCCA	0.786													---	85	---	---	11	---					
C6	729	broad.mit.edu	37	5	41160299	41160300	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:41160299_41160300delAC	uc003jmk.2	-	10	1838_1839	c.1628_1629delGT	c.(1627-1629)tgtfs	p.C543fs	C6_uc003jml.1_Frame_Shift_Del_p.C543fs	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	543	EGF-like.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCCACTCTGACACACACACAG	0.475													---	854	---	---	10	---					
RAPGEF6	51735	broad.mit.edu	37	5	130782332	130782332	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:130782332delT	uc003kvn.2	-	21	3471	c.3265delA	c.(3265-3267)aggfs	p.R1089fs	RAPGEF6_uc003kvp.2_Frame_Shift_Del_p.R1139fs|RAPGEF6_uc003kvo.2_Frame_Shift_Del_p.R1102fs|RAPGEF6_uc010jdi.2_Frame_Shift_Del_p.R1097fs|RAPGEF6_uc010jdj.2_Frame_Shift_Del_p.R1097fs|RAPGEF6_uc003kvq.3_Frame_Shift_Del_p.R814fs|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Frame_Shift_Del_p.R1089fs|RAPGEF6_uc003kvm.2_Frame_Shift_Del_p.R12fs	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	1089					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CGGCGTGCCCTTTTTTTGTGA	0.453													---	964	---	---	7	---					
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	-	-	rs72552721		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:131676327delT	uc003kwq.3	+	8	1679	c.1514delT	c.(1513-1515)cttfs	p.L505fs	LOC553103_uc021ydj.1_Intron	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	Homo sapiens solute carrier family 22 (organic cation/ergothioneine transporter), member 4 (SLC22A4), mRNA.	505					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|PDZ domain binding|carnitine transporter activity|cation:cation antiporter activity|secondary active organic cation transmembrane transporter activity|symporter activity	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	ATCCTCACCCTTTTTTTCCCT	0.418													---	1235	---	---	10	---					
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139905676	139905676	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:139905676delA	uc003lfs.2	+	25	4742	c.4588delA	c.(4588-4590)aaafs	p.K1530fs	ANKHD1-EIF4EBP3_uc003lfr.3_Frame_Shift_Del_p.K1530fs|ANKHD1-EIF4EBP3_uc003lfu.1_Frame_Shift_Del_p.K1010fs|ANKHD1-EIF4EBP3_uc011czh.1_Frame_Shift_Del_p.K269fs|ANKHD1-EIF4EBP3_uc003lfw.3_Frame_Shift_Del_p.K168fs|ANKHD1-EIF4EBP3_uc010jfl.3_5'UTR|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1530						cytoplasm|nucleus	RNA binding	p.G1529G(1)		breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGTTTGGGAAAAAAAGGGC	0.423													---	1092	---	---	11	---					
SLIT3	6586	broad.mit.edu	37	5	168250317	168250319	+	In_Frame_Del	DEL	TGT	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:168250317_168250319delTGT	uc010jjg.3	-	6	995_997	c.575_577delACA	c.(574-579)aacatc>atc	p.N192del	SLIT3_uc003mab.3_In_Frame_Del_p.N192del|SLIT3_uc010jji.2_In_Frame_Del_p.N192del|SLIT3_uc003mac.1_5'UTR	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	192					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGCGACTGATGTTGTTGTTGTT	0.537													---	1644	---	---	7	---					
DAXX	1616	broad.mit.edu	37	6	33287898	33287900	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:33287898_33287900delTCC	uc003oec.3	-	4	1557_1559	c.1353_1355delGGA	c.(1351-1356)gaggaa>gaa	p.451_452EE>E	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|DAXX_uc021ywn.1_In_Frame_Del_p.451_452EE>E|DAXX_uc021ywo.1_In_Frame_Del_p.451_452EE>E|DAXX_uc011dre.2_In_Frame_Del_p.463_464EE>E|DAXX_uc003oed.3_In_Frame_Del_p.451_452EE>E|DAXX_uc011drd.2_In_Frame_Del_p.376_377EE>E	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	451	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.E451E(4)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						ctcttcttcttcctcctcctcct	0.552			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								---	256	---	---	7	---					
C6orf89	221477	broad.mit.edu	37	6	36867371	36867371	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:36867371delC	uc003omw.3	+	1	335	c.172delC	c.(172-174)cccfs	p.P58fs	C6orf89_uc003omv.3_5'UTR|C6orf89_uc003omx.3_Frame_Shift_Del_p.P51fs|C6orf89_uc011dtr.2_5'UTR	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	51						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						ACCTCAGAGACCCCCCCCGCA	0.428													---	399	---	---	11	---					
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:41168714_41168716delCAG	uc010jxm.1	-	0	210_212	c.31_33delCTG	c.(31-33)ctgdel	p.L11del		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	11					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631													---	190	---	---	7	---					
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:42196333delT	uc003ose.2	-	17	3976	c.3413delA	c.(3412-3414)aagfs	p.K1138fs	TRERF1_uc011duq.1_Frame_Shift_Del_p.K1035fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.K886fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.K874fs|TRERF1_uc003osd.2_Frame_Shift_Del_p.K1118fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	1118	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.P1138P(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542													---	2528	---	---	8	---					
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:52883129delT	uc003pbh.2	-	8	1153	c.663_splice	c.e8+1	p.K221_splice	ICK_uc003pbi.2_Splice_Site_p.K221_splice|ICK_uc003pbj.3_Splice_Site_p.K221_splice	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	221	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502													---	1244	---	---	10	---					
GABRR2	2570	broad.mit.edu	37	6	89975427	89975429	+	In_Frame_Del	DEL	AAG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:89975427_89975429delAAG	uc003pnb.2	-	6	875_877	c.867_869delCTT	c.(865-870)ttcttg>ttg	p.F289del	GABRR2_uc011dzx.1_In_Frame_Del_p.F165del	NM_002043	NP_002034	P28476	GBRR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA.	289					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TGTTTGGAGCAAGAAGAAGAAGA	0.517													---	400	---	---	7	---					
KIAA0408	9729	broad.mit.edu	37	6	127767596	127767596	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:127767596delC	uc011ebs.2	-	4	2204	c.1868delG	c.(1867-1869)ggafs	p.G623fs	KIAA0408_uc003qbc.3_Frame_Shift_Del_p.G623fs|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_Intron|KIAA0408_uc003qbb.3_Frame_Shift_Del_p.G506fs	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CACTTCCTGTCCCCCCCACAC	0.398													---	1722	---	---	7	---					
MED23	9439	broad.mit.edu	37	6	131919846	131919846	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:131919846delT	uc003qcs.1	-	18	2450	c.2276delA	c.(2275-2277)aatfs	p.N759fs	MED23_uc003qcq.3_Frame_Shift_Del_p.N765fs|MED23_uc011eca.1_Frame_Shift_Del_p.N400fs|MED23_uc003qct.1_Frame_Shift_Del_p.N765fs	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	759					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.N759fs*7(2)|p.N765fs*7(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTCCTCCACATTTTTTTTCAG	0.378													---	419	---	---	7	---					
OLIG3	167826	broad.mit.edu	37	6	137815210	137815212	+	In_Frame_Del	DEL	TGG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:137815210_137815212delTGG	uc003qhp.1	-	0	320_322	c.96_98delCCA	c.(94-99)caccag>cag	p.H32del		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	Homo sapiens oligodendrocyte transcription factor 3 (OLIG3), mRNA.	32	Poly-His.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Q33K(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ACGGCTCTCCtggtggtggtggt	0.596													---	485	---	---	10	---					
CCDC28A	25901	broad.mit.edu	37	6	139097330	139097330	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:139097330delA	uc003qie.3	+	1	498	c.343delA	c.(343-345)aaafs	p.K115fs	LOC100507462_uc003qid.2_5'Flank	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	Homo sapiens coiled-coil domain containing 28A (CCDC28A), mRNA.	115								p.N117fs*5(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGTCAATGCCAAAAAAAATGC	0.413													---	546	---	---	10	---					
GRM1	2911	broad.mit.edu	37	6	146350671	146350672	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:146350671_146350672insT	uc010khw.1	+	1	488_489	c.18_19insT	c.(16-21)ttgtttfs	p.L6fs	GRM1_uc010khu.1_Frame_Shift_Ins_p.L6fs|GRM1_uc010khv.1_Frame_Shift_Ins_p.L6fs|GRM1_uc003qll.2_Frame_Shift_Ins_p.L6fs|GRM1_uc011edz.1_Frame_Shift_Ins_p.L6fs|GRM1_uc011eea.1_Frame_Shift_Ins_p.L6fs	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	6					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGCTCCTTTTGTTTTTTTTCCC	0.644													---	1079	---	---	7	---					
ICA1	3382	broad.mit.edu	37	7	8198250	8198251	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:8198250_8198251insT	uc003sro.4	-	6	747_748	c.611_612insA	c.(610-612)aacfs	p.N204fs	ICA1_uc010ktr.3_Frame_Shift_Ins_p.N204fs|ICA1_uc003srm.3_Frame_Shift_Ins_p.N204fs|ICA1_uc003srn.4_Frame_Shift_Ins_p.N130fs|ICA1_uc003srq.3_Frame_Shift_Ins_p.N204fs|ICA1_uc003srr.3_Frame_Shift_Ins_p.N203fs|ICA1_uc010kts.3_Non-coding_Transcript|ICA1_uc003srs.1_Frame_Shift_Ins_p.N204fs	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	204	AH.				neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		p.N204fs*5(6)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		ATTTGTCAAAGTTTTTTTTTGC	0.376													---	441	---	---	7	---					
ELN	2006	broad.mit.edu	37	7	73462847	73462849	+	In_Frame_Del	DEL	GCA	-	-	rs140742644		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:73462847_73462849delGCA	uc003tzw.3	+	14	851_853	c.760_762delGCA	c.(760-762)gcadel	p.A260del	ELN_uc003tzm.1_Intron|ELN_uc003tzn.3_In_Frame_Del_p.A260del|ELN_uc003tzy.3_In_Frame_Del_p.A255del|ELN_uc003tzz.3_In_Frame_Del_p.A224del|ELN_uc003tzo.3_In_Frame_Del_p.A246del|ELN_uc003tzp.3_In_Frame_Del_p.A216del|ELN_uc003tzq.3_In_Frame_Del_p.A143del|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_In_Frame_Del_p.A260del|ELN_uc003tzt.3_In_Frame_Del_p.A265del|ELN_uc003tzu.3_In_Frame_Del_p.A265del|ELN_uc003tzv.3_In_Frame_Del_p.A250del|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_In_Frame_Del_p.A250del|ELN_uc011kff.2_In_Frame_Del_p.A260del	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	260	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGGCCCCCAGgcagcagcagcag	0.621			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						---	641	---	---	7	---					
PCLO	27445	broad.mit.edu	37	7	82595446	82595447	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:82595446_82595447insT	uc003uhx.2	-	3	3946_3947	c.3657_3658insA	c.(3655-3660)aaactafs	p.K1219fs	PCLO_uc003uhv.2_Frame_Shift_Ins_p.K1219fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1158					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCAGGGATTAGTTTTTTTTCTT	0.386													---	1411	---	---	8	---					
DPY19L2P4	442523	broad.mit.edu	37	7	89748927	89748928	+	RNA	INS	-	C	C	rs138239781	by1000genomes	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:89748927_89748928insC	uc003ujw.1	+	0		c.214_215insC								Homo sapiens dpy-19-like 2 pseudogene 4 (C. elegans) (DPY19L2P4), non-coding RNA.																		GGTGCGGGCCTCCCCCTTCCCC	0.639													---	16	---	---	11	---					
LRRC4	64101	broad.mit.edu	37	7	127670324	127670325	+	Frame_Shift_Ins	INS	-	G	G	rs147967619		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:127670324_127670325insG	uc003vmk.3	-	1	506_507	c.369_370insC	c.(367-372)gccagcfs	p.A123fs	SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Frame_Shift_Ins_p.A123fs	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA.	123						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GTGTTGAGGCTGGCCAGGCCGT	0.619													---	451	---	---	7	---					
LUC7L2	51631	broad.mit.edu	37	7	139094365	139094366	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:139094365_139094366delAG	uc011kqt.2	+	7	1176_1177	c.942_943delAG	c.(940-945)gaagagfs	p.E314fs	LUC7L2_uc011kqs.2_Frame_Shift_Del_p.E245fs|LUC7L2_uc003vuy.3_Frame_Shift_Del_p.E247fs|LUC7L2_uc003vux.3_Frame_Shift_Del_p.E248fs|LUC7L2_uc003vuz.1_Frame_Shift_Del_p.E195fs|LUC7L2_uc003vva.3_Frame_Shift_Del_p.E195fs	NM_001244584	NP_001231513	Q9Y383	LC7L2_HUMAN	Homo sapiens LUC7-like 2 (S. cerevisiae) (LUC7L2), transcript variant 2, mRNA.	248	Arg/Ser-rich.						enzyme binding|metal ion binding			NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16	Melanoma(164;0.242)					AACGAAGAGAAGAGAGAGAGAG	0.391													---	159	---	---	8	---					
NOM1	64434	broad.mit.edu	37	7	156743209	156743211	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:156743209_156743211delGAG	uc003wmy.3	+	0	793_795	c.778_780delGAG	c.(778-780)gagdel	p.E264del		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.	264	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding	p.E264*(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ggacgaaagtgaggaggaggagg	0.552													---	343	---	---	7	---					
WDR60	55112	broad.mit.edu	37	7	158704353	158704353	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:158704353delA	uc003woe.4	+	11	1731	c.1573delA	c.(1573-1575)aaafs	p.K525fs	WDR60_uc010lqv.3_Non-coding_Transcript|WDR60_uc010lqw.3_Frame_Shift_Del_p.K157fs	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	525								p.G524R(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AAACTTTGGGAAAAAAAATAC	0.328													---	561	---	---	8	---					
PRKDC	5591	broad.mit.edu	37	8	48701554	48701555	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr8:48701554_48701555insT	uc003xqi.3	-	76	10868_10869	c.10811_10812insA	c.(10810-10812)aacfs	p.N3604fs	PRKDC_uc003xqj.3_Frame_Shift_Ins_p.N3604fs	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	3605					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TTTTTTCAATGTTTTTTTTATT	0.401								Non-homologous end-joining					---	473	---	---	9	---					
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr8:48746799delT	uc003xqi.3	-	59	8164	c.8107delA	c.(8107-8109)aggfs	p.R2703fs	PRKDC_uc003xqj.3_Frame_Shift_Del_p.R2703fs	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2704	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining					---	2745	---	---	9	---					
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr8:70514026delT	uc003xyg.2	+	8	1584	c.1023delT	c.(1021-1023)cctfs	p.P341fs	SULF1_uc010lza.1_Frame_Shift_Del_p.P341fs|SULF1_uc003xyd.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xye.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xyf.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	341					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCGTGTGCCTTTTTTTATTC	0.408													---	1693	---	---	9	---					
ZNF704	619279	broad.mit.edu	37	8	81733713	81733713	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr8:81733713delT	uc003yby.2	-	1	349	c.117delA	c.(115-117)aaafs	p.K39fs		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	Homo sapiens zinc finger protein 704 (ZNF704), mRNA.	39						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCCGGCTGGCTTTTTTGGTGT	0.428													---	2492	---	---	7	---					
UBR5	51366	broad.mit.edu	37	8	103274272	103274272	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr8:103274272delA	uc003ykr.2	-	54	8168	c.7713delT	c.(7711-7713)tttfs	p.F2571fs	UBR5_uc003yks.2_Frame_Shift_Del_p.F2570fs|UBR5_uc003ykq.3_Frame_Shift_Del_p.F82fs	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2571	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTACAGGATCAAAAAAAGCAA	0.338													---	608	---	---	7	---					
LRP12	29967	broad.mit.edu	37	8	105509429	105509429	+	Frame_Shift_Del	DEL	A	-	-	rs35928649		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr8:105509429delA	uc003yma.3	-	4	1478	c.1351delT	c.(1351-1353)tgcfs	p.C451fs	LRP12_uc003ymb.3_Frame_Shift_Del_p.C432fs|LRP12_uc003ylz.3_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	451	LDL-receptor class A 5.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCTGGTTGGCAAAAAAAGCAG	0.408													---	985	---	---	7	---					
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	G	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr8:110455173_110455174insG	uc003yne.3	+	36	4498	c.4394_splice	c.e36-1	p.G1465_splice		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1465	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)			---	680	---	---	16	---					
FAM74A3	728495	broad.mit.edu	37	9	40715923	40715924	+	RNA	DEL	AA	-	-	rs62565543		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:40715923_40715924delAA	uc010mmk.2	+	0		c.400_401delAA								Homo sapiens family with sequence similarity 74, member A3 (FAM74A3), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAGACGTGGAAAGAGCTCAGA	0.569													---	93	---	---	13	---					
LOC642236	642236	broad.mit.edu	37	9	68438558	68438559	+	Splice_Site	INS	-	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:68438558_68438559insT	uc022bht.1	-	4		c.541_splice	c.e4+1							Homo sapiens FSHD region gene 1 pseudogene (LOC642236), non-coding RNA.																		AGACACAAACCTTCTTTGTGTG	0.421													---	604	---	---	7	---					
OR13C5	138799	broad.mit.edu	37	9	107361451	107361452	+	Frame_Shift_Del	DEL	GC	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:107361451_107361452delGC	uc011lvp.2	-	0	243_244	c.243_244delGC	c.(241-246)acgctafs	p.T81fs		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AAGCTCACTAGCGTGGAGGGAA	0.510													---	306	---	---	11	---					
C9orf43	257169	broad.mit.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:116187646_116187648delGCA	uc004bhp.3	+	9	1334_1336	c.888_890delGCA	c.(886-891)cggcag>cgg	p.Q304del	C9orf43_uc004bho.4_In_Frame_Del_p.Q304del	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	Homo sapiens chromosome 9 open reading frame 43 (C9orf43), mRNA.	304	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557													---	436	---	---	12	---					
GOLGA2	2801	broad.mit.edu	37	9	131019389	131019390	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:131019389_131019390insA	uc011maw.2	-	25	2978_2979	c.2965_2966insT	c.(2965-2967)tacfs	p.Y989fs	GOLGA2_uc010mxw.3_Frame_Shift_Ins_p.Y312fs|GOLGA2_uc004buh.3_Frame_Shift_Ins_p.Y339fs|DQ583972_uc022boe.1_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	989						Golgi cisterna membrane	protein binding	p.Y977fs*9(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GTCAGCCCGGTAAAAAAAAGGA	0.564													---	888	---	---	13	---					
GTF3C5	9328	broad.mit.edu	37	9	135919216	135919216	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:135919216delT	uc004ccj.4	+	2	812	c.475delT	c.(475-477)tttfs	p.F159fs	GTF3C5_uc010mzz.2_Frame_Shift_Del_p.F34fs|GTF3C5_uc004cci.4_Frame_Shift_Del_p.F159fs	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	159						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GAAGGAGGCCTTTTTCCACCA	0.592													---	727	---	---	7	---					
SYT15	83849	broad.mit.edu	37	10	46969401	46969403	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr10:46969401_46969403delCAG	uc001jea.3	-	1	211_213	c.58_60delCTG	c.(58-60)ctgdel	p.L21del	SYT15_uc001jdz.2_In_Frame_Del_p.L21del|SYT15_uc001jeb.3_Intron|SYT15_uc010qfp.1_5'Flank	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	21						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631													---	335	---	---	7	---					
HECTD2	143279	broad.mit.edu	37	10	93247481	93247481	+	Frame_Shift_Del	DEL	A	-	-	rs57105282		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr10:93247481delA	uc010qnm.1	+	11	1249	c.1149delA	c.(1147-1149)gcafs	p.A383fs	LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khl.2_Frame_Shift_Del_p.A379fs|HECTD2_uc001khm.2_Non-coding_Transcript|HECTD2_uc009xty.1_Intron|HECTD2_uc001khn.1_Frame_Shift_Del_p.A29fs	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA.	379					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CTGTAGCTGCAAAAAAAATCA	0.318													---	731	---	---	7	---					
C10orf82	143379	broad.mit.edu	37	10	118424338	118424338	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr10:118424338delT	uc001lcr.3	-	3	450	c.395delA	c.(394-396)aacfs	p.N132fs	C10orf82_uc001lcs.1_3'UTR	NM_144661	NP_653262	Q8WW14	CJ082_HUMAN	Homo sapiens chromosome 10 open reading frame 82 (C10orf82), mRNA.	132										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CTTGTAGCAGTTTTTGGCCAT	0.567													---	914	---	---	7	---					
MKI67	4288	broad.mit.edu	37	10	129902204	129902205	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr10:129902204_129902205delTG	uc001lke.3	-	12	8094_8095	c.7899_7900delCA	c.(7897-7902)cacaaafs	p.H2633fs	MKI67_uc001lkf.3_Frame_Shift_Del_p.H2273fs|MKI67_uc009yav.1_Frame_Shift_Del_p.H2208fs|MKI67_uc009yaw.1_Frame_Shift_Del_p.H1783fs	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2633	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.H2633D(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGGTTCTTTGTGTGTGTGTG	0.500													---	656	---	---	20	---					
MUC15	143662	broad.mit.edu	37	11	26587426	26587427	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr11:26587426_26587427insT	uc001mqw.3	-	2	333_334	c.60_61insA	c.(58-63)aaaccafs	p.K20fs	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_5'UTR|MUC15_uc001mqy.3_Frame_Shift_Ins_p.K20fs	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	0						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TTTGGTATTGGTTTTTTTTTAA	0.287													---	274	---	---	9	---					
OR4C46	119749	broad.mit.edu	37	11	51515689	51515690	+	Frame_Shift_Del	DEL	GT	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr11:51515689_51515690delGT	uc010ric.2	+	0	408_409	c.408_409delGT	c.(406-411)cagtgtfs	p.Q136fs		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TCATGAACCAGTGTGTGTGTGC	0.480													---	1025	---	---	7	---					
KDM2A	22992	broad.mit.edu	37	11	67018079	67018081	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr11:67018079_67018081delGAG	uc001ojw.3	+	16	3442_3444	c.2578_2580delGAG	c.(2578-2580)gagdel	p.E866del	KDM2A_uc001ojx.3_Intron|KDM2A_uc001ojy.3_In_Frame_Del_p.E560del|KDM2A_uc010rpn.2_In_Frame_Del_p.E427del|KDM2A_uc001ojz.1_In_Frame_Del_p.E324del|KDM2A_uc001oka.3_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	866					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ggaggaggaagaggaggaggagg	0.655													---	219	---	---	7	---					
ATG16L2	89849	broad.mit.edu	37	11	72528863	72528865	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr11:72528863_72528865delAGG	uc001otd.3	+	2	321_323	c.281_283delAGG	c.(280-285)caggag>cag	p.E98del	ATG16L2_uc001otc.1_In_Frame_Del_p.E98del|ATG16L2_uc010rrf.1_In_Frame_Del_p.E98del|ATG16L2_uc001ote.3_5'UTR|ATG16L2_uc009ytj.2_In_Frame_Del_p.E98del	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA.	98					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GTGAAGTGGCAGGAGGAGGAGGA	0.591													---	288	---	---	7	---					
POLD3	10714	broad.mit.edu	37	11	74336609	74336609	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr11:74336609delA	uc001ovf.1	+	7	965	c.890delA	c.(889-891)gaafs	p.E297fs	POLD3_uc009yua.1_Frame_Shift_Del_p.E191fs	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	Homo sapiens polymerase (DNA-directed), delta 3, accessory subunit (POLD3), mRNA.	297					DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair|mismatch repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CTGCAGAAGGAAAAAAAAAGG	0.458													---	257	---	---	9	---					
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr11:76506673_76506675delCTG	uc021qno.1	+	0	13_15	c.13_15delCTG	c.(13-15)ctgdel	p.L9del	TSKU_uc001oxt.3_In_Frame_Del_p.L9del	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	9						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616													---	425	---	---	20	---					
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	A	A	rs56022003		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr11:89106662_89106663insA	uc001pct.3	-	12	1314	c.1075_splice	c.e12-1	p.C359_splice	NOX4_uc009yvr.3_Splice_Site_p.C334_splice|NOX4_uc001pcu.3_Splice_Site_p.C285_splice|NOX4_uc001pcw.3_Splice_Site_p.C52_splice|NOX4_uc001pcx.3_Splice_Site_p.C52_splice|NOX4_uc001pcv.3_Splice_Site_p.C359_splice|NOX4_uc009yvo.3_Splice_Site|NOX4_uc010rtu.2_Splice_Site_p.C193_splice|NOX4_uc009yvp.3_Intron|NOX4_uc010rtv.2_Splice_Site_p.C335_splice|NOX4_uc009yvq.3_Splice_Site_p.C335_splice	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	359	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													---	936	---	---	10	---					
KDM4D	55693	broad.mit.edu	37	11	94730806	94730807	+	Frame_Shift_Ins	INS	-	A	A	rs142280183	by1000genomes	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr11:94730806_94730807insA	uc021qow.1	+	0	270_271	c.270_271insA	c.(268-273)cataaafs	p.H90fs	KDM4D_uc001pfe.3_Frame_Shift_Ins_p.H90fs	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	90					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTCAATACCATAAAAAAAAGAA	0.455													---	864	---	---	9	---					
RECQL	5965	broad.mit.edu	37	12	21644546	21644547	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr12:21644546_21644547insT	uc001rex.3	-	3	468_469	c.120_121insA	c.(118-123)aaagtcfs	p.K40fs	RECQL_uc001rey.3_Frame_Shift_Ins_p.K40fs	NM_032941	NP_116559	P46063	RECQ1_HUMAN	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.	40					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	p.V41fs*2(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTTGTCAGGACTTTTTTTTTCT	0.381								Other identified genes with known or suspected DNA repair function					---	745	---	---	13	---					
ITPR2	3709	broad.mit.edu	37	12	26640046	26640046	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr12:26640046delT	uc001rhg.3	-	39	5926	c.5509delA	c.(5509-5511)aggfs	p.R1837fs	ITPR2_uc009zjg.1_5'UTR	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1837					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCATCGTCCCTTTTTTTGTTA	0.358													---	1250	---	---	8	---					
OVCH1	341350	broad.mit.edu	37	12	29596301	29596301	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr12:29596301delT	uc001rix.1	-	24	3150	c.3150delA	c.(3148-3150)aaafs	p.K1050fs		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	1050					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TACCTATTAATTTTTTTCCTG	0.348													---	1346	---	---	11	---					
CCNT1	904	broad.mit.edu	37	12	49087434	49087436	+	In_Frame_Del	DEL	ATG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr12:49087434_49087436delATG	uc001rsd.4	-	8	1884_1886	c.1561_1563delCAT	c.(1561-1563)catdel	p.H521del	CCNT1_uc009zkz.2_In_Frame_Del_p.H236del|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	521	His-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGTGGTGATTATGATGATGATGA	0.443													---	2118	---	---	7	---					
SRGAP1	57522	broad.mit.edu	37	12	64491019	64491019	+	Splice_Site	DEL	A	-	-	rs79989081		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr12:64491019delA	uc010ssp.1	+	15	1735	c.1679_splice	c.e15-2	p.G560_splice	SRGAP1_uc001srv.2_Splice_Site_p.G497_splice	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	560	Rho-GAP.				axon guidance	cytosol		p.?(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TTTTTTTTTTAGGTGAAAATC	0.348													---	277	---	---	9	---					
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr12:72094757delT	uc001sws.3	+	5	1576	c.993delT	c.(991-993)ggtfs	p.G331fs		NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	331						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433													---	998	---	---	7	---					
ANKRD20A9P	284232	broad.mit.edu	37	13	19420047	19420053	+	RNA	DEL	TTCGTAT	-	-	rs117180361	by1000genomes	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr13:19420047_19420053delTTCGTAT	uc010tcj.1	-	0		c.26057_26063delATACGAA								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		ATAACATTTCTTCGTATTTTATATTTT	0.246													---	50	---	---	7	---					
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr13:20041394delA	uc001umd.3	-	7	694	c.483delT	c.(481-483)tttfs	p.F161fs	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Intron|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	161						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303													---	385	---	---	7	---					
DKFZp666K117	0	broad.mit.edu	37	13	32527507	32527508	+	RNA	DEL	GT	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr13:32527507_32527508delGT	uc001utu.2	+	3		c.1265_1266delGT			DKFZp666K117_uc010tdv.2_Intron|DKFZp666K117_uc001utv.3_Non-coding_Transcript					Homo sapiens eukaryotic translation elongation factor 1 delta pseudogene 3 (EEF1DP3), non-coding RNA.																		TCTGGCCTGAGTGTGTGTGTGT	0.460													---	284	---	---	11	---					
KIAA0391	9692	broad.mit.edu	37	14	35592700	35592700	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr14:35592700delT	uc001wsy.1	+	1	609	c.249delT	c.(247-249)catfs	p.H83fs	KIAA0391_uc010tps.1_Intron|KIAA0391_uc001wsz.1_Frame_Shift_Del_p.H83fs|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Intron|PPP2R3C_uc001wss.3_5'Flank|PPP2R3C_uc001wst.3_5'Flank|PPP2R3C_uc010tpr.2_5'Flank|PPP2R3C_uc001wsu.3_5'Flank|PPP2R3C_uc010amn.1_5'Flank|PPP2R3C_uc001wsw.3_5'Flank|PPP2R3C_uc001wsx.1_5'Flank	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Homo sapiens KIAA0391 (KIAA0391), mRNA.	83					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CTGTTCCTCATTTTTTTTTAG	0.423													---	384	---	---	7	---					
FBXO33	254170	broad.mit.edu	37	14	39871612	39871612	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr14:39871612delT	uc001wvk.3	-	1	1041	c.703delA	c.(703-705)attfs	p.I235fs		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	Homo sapiens F-box protein 33 (FBXO33), mRNA.	235										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TACTGTTTAATTTTTTTGCCA	0.323													---	362	---	---	7	---					
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr14:73572607_73572608delAG	uc010ttu.2	+	11	1471_1472	c.1195_1196delAG	c.(1195-1197)agafs	p.R399fs	RBM25_uc001xno.3_Frame_Shift_Del_p.R399fs|RBM25_uc001xnp.3_Frame_Shift_Del_p.R194fs	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446													---	200	---	---	10	---					
FAN1	22909	broad.mit.edu	37	15	31196894	31196894	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr15:31196894delA	uc001zff.3	+	1	319	c.28delA	c.(28-30)aaafs	p.K10fs	FAN1_uc001zfc.3_Frame_Shift_Del_p.K10fs|FAN1_uc010azw.2_Frame_Shift_Del_p.K10fs|FAN1_uc001zfd.3_Frame_Shift_Del_p.K10fs|FAN1_uc001zfe.3_5'UTR	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.	10					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCTCCTGACAAAAAAAGGCC	0.353								Direct reversal of damage					---	776	---	---	7	---					
SRP14	6727	broad.mit.edu	37	15	40328597	40328599	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr15:40328597_40328599delTGC	uc001zkq.2	-	4	418_420	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14_uc001zkr.2_3'UTR|LOC100131089_uc021sjc.1_5'Flank|LOC100131089_uc021sjd.1_5'Flank|LOC100131089_uc021sje.1_5'Flank|LOC100131089_uc001zks.2_5'Flank	NM_003134	NP_003125	P37108	SRP14_HUMAN	Homo sapiens signal recognition particle 14kDa (homologous Alu RNA binding protein) (SRP14), mRNA.	116	Ala/Thr-rich.				SRP-dependent cotranslational protein targeting to membrane|negative regulation of translational elongation|response to drug	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478													---	419	---	---	7	---					
SECISBP2L	9728	broad.mit.edu	37	15	49304896	49304896	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr15:49304896delT	uc001zxe.2	-	11	1944	c.1680delA	c.(1678-1680)aaafs	p.K560fs	SECISBP2L_uc001zxd.2_Frame_Shift_Del_p.K515fs|SECISBP2L_uc010bep.2_Frame_Shift_Del_p.K322fs	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	560										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TCTCTTTTCCTTTTTTTGCTT	0.333													---	715	---	---	7	---					
SLTM	79811	broad.mit.edu	37	15	59182564	59182565	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr15:59182564_59182565delCT	uc002afp.3	-	14	2082_2083	c.1994_1995delAG	c.(1993-1995)gagfs	p.E665fs	SLTM_uc002afn.3_Frame_Shift_Del_p.E207fs|SLTM_uc002afo.3_Frame_Shift_Del_p.E647fs|SLTM_uc002afq.3_Frame_Shift_Del_p.E234fs|SLTM_uc010bgd.3_Frame_Shift_Del_p.E234fs	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	665	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTCTAGGCGCTCTCTCTCTCT	0.475													---	900	---	---	26	---					
RABEP2	79874	broad.mit.edu	37	16	28931200	28931202	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:28931200_28931202delCTG	uc002drq.3	-	2	385_387	c.337_339delCAG	c.(337-339)cagdel	p.Q113del	NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_In_Frame_Del_p.Q42del|RABEP2_uc010byn.3_In_Frame_Del_p.Q113del|RABEP2_uc002drr.3_In_Frame_Del_p.Q113del	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA.	113	Poly-Gln.				endocytosis|protein transport	early endosome	GTPase activator activity|growth factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCTCACAGTCCTGCTGCTGCTGC	0.640													---	372	---	---	10	---					
ZFHX3	463	broad.mit.edu	37	16	72822564	72822566	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:72822564_72822566delTGC	uc002fck.3	-	9	10282_10284	c.9609_9611delGCA	c.(9607-9612)cagcaa>caa	p.3203_3204QQ>Q	ZFHX3_uc002fcl.3_In_Frame_Del_p.2289_2290QQ>Q	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3203	Poly-Gln.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cacctgtggttgctgctgctgct	0.650													---	781	---	---	11	---					
ADAMTS18	170692	broad.mit.edu	37	16	77334227	77334228	+	Frame_Shift_Ins	INS	-	G	G	rs148849944	by1000genomes	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:77334227_77334228insG	uc002ffc.4	-	16	3025_3026	c.2606_2607insC	c.(2605-2607)ccafs	p.P869fs	ADAMTS18_uc010chc.1_Frame_Shift_Ins_p.P457fs|ADAMTS18_uc002ffe.1_Frame_Shift_Ins_p.P565fs	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	869	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTTTTGTGGCTGGTGGAGTTCC	0.460													---	549	---	---	7	---					
ANKRD11	29123	broad.mit.edu	37	16	89349640	89349641	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:89349640_89349641insT	uc002fmx.1	-	8	3770_3771	c.3309_3310insA	c.(3307-3312)aaagatfs	p.K1103fs	ANKRD11_uc002fmy.1_Frame_Shift_Ins_p.K1103fs|ANKRD11_uc002fnc.1_Frame_Shift_Ins_p.K1103fs|ANKRD11_uc002fnb.1_Frame_Shift_Ins_p.K1060fs	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1103	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTTGTCATCTTTTTTTTCAG	0.465													---	1014	---	---	18	---					
TP53	7157	broad.mit.edu	37	17	7579518	7579519	+	Frame_Shift_Ins	INS	-	TT	TT			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr17:7579518_7579519insTT	uc002gim.2	-	3	362_363	c.168_169insAA	c.(166-171)gaagacfs	p.E56fs	TP53_uc002gig.1_Frame_Shift_Ins_p.E56fs|TP53_uc002gih.3_Frame_Shift_Ins_p.E56fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Frame_Shift_Ins_p.E56fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.E56fs|TP53_uc002gij.2_Frame_Shift_Ins_p.E56fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Frame_Shift_Ins_p.E17fs|TP53_uc010cnk.1_Frame_Shift_Ins_p.E71fs	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	56	Interaction with HRMT1L2.		E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|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|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.E56*(5)|p.E56K(3)|p.A63fs*66(3)|p.E56E(2)|p.D57_A76del20(2)|p.D57fs*86(2)|p.T55fs*9(1)|p.E51fs*59(1)|p.D48fs*55(1)|p.E56fs*67(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.E56fs*73(1)|p.E56V(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)		GGACCTGGGTCTTCAGTGAACC	0.599		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)			---	623	---	---	553	---					
DL490867	0	broad.mit.edu	37	17	19091624	19091625	+	RNA	INS	-	A	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr17:19091624_19091625insA	uc021trx.1	+	0		c.3_4insA								Novel nucleic acids.																		TCCTGCTTGGCATGTCGCGAGA	0.545													---	41	---	---	10	---					
OSBPL1A	114876	broad.mit.edu	37	18	21750331	21750331	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr18:21750331delT	uc002kve.3	-	23	2595	c.2378delA	c.(2377-2379)aatfs	p.N793fs	OSBPL1A_uc002kvd.3_Frame_Shift_Del_p.N280fs|OSBPL1A_uc010xbc.2_Frame_Shift_Del_p.N411fs	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA.	793					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTCTTATCATTTTTTTTGTA	0.393													---	894	---	---	7	---					
SMAD4	4089	broad.mit.edu	37	18	48593481	48593482	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr18:48593481_48593482insT	uc010xdp.2	+	9	1770_1771	c.1232_1233insT	c.(1231-1233)agtfs	p.S411fs	SMAD4_uc002lfb.4_Frame_Shift_Ins_p.S256fs	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	411	MH2.				BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.Q410fs*6(3)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TTTGTACAGAGTTACTACTTAG	0.426													---	223	---	---	109	---					
ZNF358	140467	broad.mit.edu	37	19	7585352	7585353	+	In_Frame_Ins	INS	-	GCT	GCT	rs71752719		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:7585352_7585353insGCT	uc002mgn.2	+	1	1394_1395	c.1224_1225insGCT	c.(1222-1227)insGCT	p.416_417insA	ZNF358_uc021unu.1_In_Frame_Ins_p.416_417insA|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	416	Poly-Ala.				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						ctgccgcggccgctgcagctgc	0.703													---	45	---	---	10	---					
MUC16	94025	broad.mit.edu	37	19	9063127	9063128	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:9063127_9063128insA	uc002mkp.3	-	2	24522_24523	c.24318_24319insT	c.(24316-24321)tttgagfs	p.F8106fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8108	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGCTAGTCTCAAAAAAGCCAG	0.495													---	433	---	---	244	---					
ZNF44	51710	broad.mit.edu	37	19	12384448	12384448	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:12384448delA	uc010xmj.2	-	4	971	c.766delT	c.(766-768)tggfs	p.W256fs	ZNF44_uc002mtl.3_Intron|ZNF44_uc010xmi.2_Non-coding_Transcript|ZNF44_uc002mtn.4_Non-coding_Transcript|ZNF44_uc010dys.3_Frame_Shift_Del_p.W208fs	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	Homo sapiens zinc finger protein 44 (ZNF44), transcript variant 1, mRNA.	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		AAACTGGGCCAAAAAAAGGCT	0.398													---	812	---	---	9	---					
ZNF443	10224	broad.mit.edu	37	19	12542364	12542364	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:12542364delA	uc002mtu.3	-	3	820	c.622delT	c.(622-624)tggfs	p.W208fs		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	208					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						AAACTGGGCCAAAAAAACGCT	0.408													---	1060	---	---	7	---					
SLC7A9	11136	broad.mit.edu	37	19	33353391	33353393	+	In_Frame_Del	DEL	TGA	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:33353391_33353393delTGA	uc002ntv.4	-	4	695_697	c.578_580delTCA	c.(577-582)atcagc>agc	p.I193del	SLC7A9_uc002ntt.4_Intron|SLC7A9_uc002ntu.4_In_Frame_Del_p.I193del|SLC7A9_uc021usa.1_In_Frame_Del_p.I193del|SLC7A9_uc002ntw.4_Intron|JA660679_uc021usb.1_5'Flank	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	193			I -> II (in CSNU).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ACCAGCCCGCTGATGATGATGAT	0.631													---	521	---	---	7	---					
FAM98C	147965	broad.mit.edu	37	19	38899502	38899504	+	In_Frame_Del	DEL	AAG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:38899502_38899504delAAG	uc002oin.1	+	7	1049_1051	c.1030_1032delAAG	c.(1030-1032)aagdel	p.K349del	FAM98C_uc002oio.1_In_Frame_Del_p.K267del|FAM98C_uc010xtz.1_3'UTR	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Homo sapiens family with sequence similarity 98, member C (FAM98C), mRNA.	349										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGGGGTCGCAAGAAGAAGAAGA	0.606													---	544	---	---	27	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:47935681_47935683delTCC	uc010ele.3	-	7	2146_2148	c.2130_2132delGGA	c.(2128-2133)gaggac>gac	p.E710del	SLC8A2_uc002pgx.3_In_Frame_Del_p.E710del|SLC8A2_uc010xyq.2_In_Frame_Del_p.E466del|SLC8A2_uc010xyr.2_In_Frame_Del_p.E173del			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													---	763	---	---	12	---					
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:50310483_50310485delCAG	uc002ppq.2	-	10	1384_1386	c.1180_1182delCTG	c.(1180-1182)ctgdel	p.L394del	FUZ_uc002ppt.2_Non-coding_Transcript|FUZ_uc002ppu.2_In_Frame_Del_p.L358del	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	Homo sapiens fuzzy homolog (Drosophila) (FUZ), transcript variant 1, mRNA.	394	Leu-rich.				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCTGGGGAGACAGCAGCAGCAGC	0.635													---	325	---	---	14	---					
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr20:23345921_23345923delGAG	uc010gdb.3	+	2	1075_1077	c.901_903delGAG	c.(901-903)gagdel	p.E306del	GZF1_uc002wsy.3_In_Frame_Del_p.E306del|GZF1_uc010zsq.2_Intron|GZF1_uc010zsr.2_Intron|GZF1_uc002wsz.3_In_Frame_Del_p.E306del	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	306					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ggaggaggaagaggaggaggagg	0.532													---	414	---	---	7	---					
GINS1	9837	broad.mit.edu	37	20	25422397	25422397	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr20:25422397delA	uc002wuv.1	+	5	641	c.507delA	c.(505-507)ttafs	p.L169fs	GINS1_uc010zte.1_Non-coding_Transcript	NM_021067	NP_066545	Q14691	PSF1_HUMAN	Homo sapiens GINS complex subunit 1 (Psf1 homolog) (GINS1), mRNA.	169					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		p.N172fs*14(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						CAGTCCTATTAAAAAAAAATA	0.299													---	577	---	---	11	---					
FRG1B	284802	broad.mit.edu	37	20	29624034	29624035	+	Splice_Site	INS	-	G	G	rs73621649		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr20:29624034_29624035insG	uc010ztl.1	+	1	1	c.-31_splice	c.e1-1		FRG1B_uc002wvm.1_Intron|FRG1B_uc010ztj.1_Intron|FRG1B_uc010gdr.1_Intron|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTTCTCCAATATTGATGAGGGC	0.287													---	97	---	---	8	---					
CBR3	874	broad.mit.edu	37	21	37510175	37510175	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr21:37510175delT	uc002yve.3	+	1	570	c.342delT	c.(340-342)aatfs	p.N114fs	CBR3-AS1_uc002yvc.2_Intron|CBR3-AS1_uc002yvd.2_Intron	NM_001236	NP_001227	O75828	CBR3_HUMAN	Homo sapiens carbonyl reductase 3 (CBR3), mRNA.	114						cytosol|nucleus	NADPH binding|carbonyl reductase (NADPH) activity			kidney(1)|large_intestine(1)|lung(1)	3						TGAAGACAAATTTTTTTGCCA	0.408													---	645	---	---	10	---					
TRAPPC10	7109	broad.mit.edu	37	21	45472274	45472275	+	Frame_Shift_Ins	INS	-	A	A	rs149217788	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr21:45472274_45472275insA	uc002zea.3	+	3	568_569	c.399_400insA	c.(397-402)aagaaafs	p.K133fs	TRAPPC10_uc010gpo.3_5'UTR|TRAPPC10_uc002zdz.3_Frame_Shift_Ins_p.K133fs	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	133					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.K133N(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ATGATGCCAAGAAAAAAAACAA	0.356													---	566	---	---	8	---					
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	-	-	rs141985009	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr22:30742328_30742330delCTG	uc003ahl.3	-	2	496_498	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_uc021wnt.1_Intron	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	122	Poly-Gln.				nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606													---	626	---	---	11	---					
DNAJB7	150353	broad.mit.edu	37	22	41257115	41257115	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr22:41257115delT	uc003azj.3	-	0	1016	c.884delA	c.(883-885)aagfs	p.K295fs	XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_Intron|XPNPEP3_uc003azg.2_Intron|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA.	295	Poly-Lys.				protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TTTACGCTTCTTTTTTTTCCT	0.378													---	491	---	---	7	---					
DNAJB7	150353	broad.mit.edu	37	22	41257834	41257835	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr22:41257834_41257835insA	uc003azj.3	-	0	296_297	c.164_165insT	c.(163-165)gtafs	p.V55fs	XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_3'UTR|XPNPEP3_uc003azg.2_Non-coding_Transcript|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA.	55	J.				protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CATTTGATAATACCTCGTATGC	0.371													---	1038	---	---	9	---					
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr22:42610573_42610575delAGG	uc003bcj.1	-	0	871_873	c.737_739delCCT	c.(736-741)tccttc>ttc	p.S246del	TCF20_uc003bck.1_In_Frame_Del_p.S246del	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	246	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507													---	455	---	---	7	---					
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr22:43213780delT	uc003bdd.2	-	9	1116	c.896delA	c.(895-897)aatfs	p.N299fs	ARFGAP3_uc010gzf.2_Frame_Shift_Del_p.N255fs|ARFGAP3_uc011apu.1_Frame_Shift_Del_p.N227fs	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA.	299					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|cytosol	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363													---	894	---	---	10	---					
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	RNA	DEL	AC	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chrX:73047124_73047125delAC	uc004ebn.2	+	0		c.35085_35086delAC			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GCCACACATGACACACACACAC	0.470													---	496	---	---	11	---					
XIST	7503	broad.mit.edu	37	X	73071723	73071723	+	RNA	DEL	G	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chrX:73071723delG	uc004ebm.1	-	0		c.866delC								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CTCTGCCAAAGCGGTAGGTAC	0.458													---	502	---	---	11	---					
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chrX:102004419_102004421delGAG	uc022cbi.1	+	0	496_498	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_uc010nog.3_In_Frame_Del_p.E171del|BHLHB9_uc011mrq.2_In_Frame_Del_p.E171del|BHLHB9_uc011mrr.2_In_Frame_Del_p.E171del|BHLHB9_uc011mrs.2_In_Frame_Del_p.E171del|BHLHB9_uc011mrt.2_In_Frame_Del_p.E171del|BHLHB9_uc004ejo.3_In_Frame_Del_p.E171del|BHLHB9_uc011mru.2_In_Frame_Del_p.E171del|BHLHB9_uc011mrv.2_In_Frame_Del_p.E171del	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	171	Poly-Glu.					cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488													---	785	---	---	15	---					
PAK3	5063	broad.mit.edu	37	X	110406206	110406208	+	In_Frame_Del	DEL	GAA	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chrX:110406206_110406208delGAA	uc010npv.1	+	6	667_669	c.640_642delGAA	c.(640-642)gaadel	p.E218del	PAK3_uc010npt.1_In_Frame_Del_p.E182del|PAK3_uc010npu.1_In_Frame_Del_p.E182del|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_In_Frame_Del_p.E182del|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_In_Frame_Del_p.E203del|PAK3_uc004epa.2_In_Frame_Del_p.E197del	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	197	Linker.				multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)			---	528	---	---	7	---					
CUL4B	8450	broad.mit.edu	37	X	119694117	119694119	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chrX:119694117_119694119delGAG	uc004esw.3	-	2	866_868	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_uc004esv.3_In_Frame_Del_p.125_126SS>S	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	143	Ser-rich.				DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488													---	296	---	---	14	---					
SPANXN3	139067	broad.mit.edu	37	X	142605149	142605149	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chrX:142605149delT	uc004fbw.3	-	0	159	c.71delA	c.(70-72)aatfs	p.N24fs		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	Homo sapiens SPANX family, member N3 (SPANXN3), mRNA.	24										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.453													---	660	---	---	7	---					
SPANXN2	494119	broad.mit.edu	37	X	142803692	142803692	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chrX:142803692delT	uc004fbz.3	-	0	825	c.71delA	c.(70-72)aatfs	p.N24fs		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	24										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.443													---	746	---	---	8	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chrX:150817142_150817144delGCT	uc004fev.4	+	8	1017_1019	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)|p.A235D(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													---	507	---	---	12	---					
