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
TUBBP5	643224	broad.mit.edu	37	9	141070695	141070695	+	Silent	SNP	G	A	A			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr9:141070695G>A	uc010ncq.3	+	4	1470	c.630G>A	c.(628-630)acG>acA	p.T210T						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.R105H(1)									GCCAAGGGACGCTACACCGAA	0.592000														26			7		0	0	0.047766	0	0
RAPH1	65059	broad.mit.edu	37	2	204305987	204305987	+	Silent	SNP	T	G	G			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr2:204305987T>G	uc002vad.3	-	13	2151	c.1926A>C	c.(1924-1926)ccA>ccC	p.P642P		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	642					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						gagggggtggtggagggggtg	0.602000														67			6		0	0	0.064281	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890639	32890639	+	Missense_Mutation	SNP	T	C	C	rs79284655		TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr16:32890639T>C	uc002edh.1	-	4	423	c.247A>G	c.(247-249)Aag>Gag	p.K83E	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		ACCAGCGGCTTGTAGTACACA	0.627000														190			18		0	0	0.062417	0	0
OR1E2	8388	broad.mit.edu	37	17	3336543	3336543	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr17:3336543C>A	uc010vre.2	-	0	593	c.593G>T	c.(592-594)tGc>tTc	p.C198F		NM_003554	NP_003545	P47887	OR1E2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 2 (OR1E2), mRNA.	198					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						AGTGTCAGAGCAGGCCAGCTT	0.458000														252			7		6.31663e-08	6.77602e-08	0.024245	1	0
KDM5C	8242	broad.mit.edu	37	X	53231138	53231138	+	Silent	SNP	C	T	T	rs61733871	byFrequency	TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chrX:53231138C>T	uc004drz.3	-	12	2297	c.1764G>A	c.(1762-1764)caG>caA	p.Q588Q	KDM5C_uc022bxe.1_Silent_p.Q521Q|KDM5C_uc004dsa.3_Silent_p.Q587Q	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	588	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CTCCTGCACACTGGTTTGTGC	0.483000			"""N, F, S"""		clear cell renal carcinoma									223			8		0	0	0.047766	0	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	C	C			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000														36			5		0	0	0.014758	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86259	86259	+	RNA	SNP	A	T	T			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chrGL000211.1:86259A>T	uc003bnz.1	+	5		c.1007A>T			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		AGACATATCCATATATGTGGC	0.413000														30			22		0	0	0.083992	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	T	T			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	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														227			20		0	0	0.099896	0	0
SPZ1	84654	broad.mit.edu	37	5	79616605	79616605	+	RNA	SNP	C	G	G			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr5:79616605C>G	uc011ctk.1	-	0		c.1054G>C			SPZ1_uc003kgn.3_Missense_Mutation_p.Q191E			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAAGAAACAGCAGATGATAAT	0.353000														424			9		0	0	0.047766	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887399	155887399	+	Missense_Mutation	SNP	T	G	G			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr1:155887399T>G	uc001fmi.1	-	10	1355	c.1331A>C	c.(1330-1332)cAg>cCg	p.Q444P	KIAA0907_uc001fmj.1_Missense_Mutation_p.Q444P|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	444	Pro-rich.							p.Q444P(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggGCCAGC	0.562000														178			24		0	0	0.098360	0	0
MKL1	57591	broad.mit.edu	37	22	40820376	40820376	+	Missense_Mutation	SNP	A	C	C			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr22:40820376A>C	uc003ayv.1	-	4	518	c.311T>G	c.(310-312)gTg>gGg	p.V104G	MKL1_uc010gyf.1_Missense_Mutation_p.V104G|MKL1_uc003ayw.1_Missense_Mutation_p.V104G|MKL1_uc010gye.1_Missense_Mutation_p.V104G	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	104	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGGATAGTTCACCTGGCCCAC	0.592000			T	RBM15	acute megakaryocytic leukemia									198			8		0	0	0.058154	0	0
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	T	T			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr2:197657782C>T	uc002uts.3	-	2	466	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_uc010zgu.2_Silent_p.E103E|GTF3C3_uc002utu.3_Silent_p.E103E	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	103	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding	p.E103E(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468000														244			6		0	0	0.069234	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	A	A			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chrX:150156360G>A	uc004fep.3	+	4	668	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_uc004feq.3_3'UTR|HMGB3_uc004fer.3_Silent_p.E192E	NM_005342	NP_005333	O15347	HMGB3_HUMAN	Homo sapiens high mobility group box 3 (HMGB3), mRNA.	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(2)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000														176			7		0	0	0.029380	0	0
OVOS2	0	broad.mit.edu	37	12	31307356	31307356	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr12:31307356T>C	uc010sjy.1	-	6	724	c.724A>G	c.(724-726)Aaa>Gaa	p.K242E						RecName: Full=Ovostatin homolog 2; Flags: Precursor;									p.K242E(2)				all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ATTTGGGTTTTCCCTTGCACA	0.383000														75			5		0	0	0.014758	0	0
AK308867	0	broad.mit.edu	37	16	70268080	70268080	+	RNA	SNP	T	C	C	rs149244259	by1000genomes	TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr16:70268080T>C	uc010cfp.1	-	2		c.335A>G								Homo sapiens cDNA, FLJ98908.																		GTCTTACTGTTGGCTAAAAGG	0.373000														34			7		0	0	0.047766	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83307	83307	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chrGL000219.1:83307G>T	uc022brb.1	-	3	360	c.47C>A	c.(46-48)gCt>gAt	p.A16D	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GGCCAACAAAGCCATTTTCCC	0.373000														85			7		0.00448238	0.00455966	0.047766	1	0
KCNN3	3782	broad.mit.edu	37	1	154842333	154842333	+	Silent	SNP	C	T	T			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr1:154842333C>T	uc021pah.1	-	0	422	c.108G>A	c.(106-108)caG>caA	p.Q36Q	KCNN3_uc001ffp.3_Silent_p.Q36Q|KCNN3_uc009wox.1_Silent_p.Q36Q	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	36	Poly-Gln.					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			gctgctgttgctgctgctgct	0.672000														48			3		0	0	0.004672	0	0
FLJ38723	0	broad.mit.edu	37	15	62539781	62539781	+	Silent	SNP	A	G	G	rs2611797	by1000genomes	TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr15:62539781A>G	uc002ajj.1	-	2	197	c.189T>C	c.(187-189)gaT>gaC	p.D63D	FLJ38723_uc002ain.1_Intron|DQ578824_uc010uhq.2_5'Flank|DQ573543_uc002ajx.3_5'Flank|DQ596057_uc002ajy.3_5'Flank|DQ586930_uc021soh.1_5'Flank|DQ592483_uc021soi.1_5'Flank					RecName: Full=Golgin subfamily A member 2-like protein 4;																		GCTGGTTAGCATCAGGGGCTT	0.537000														123			6		0	0	0.021553	0	0
DAXX	1616	broad.mit.edu	37	6	33287900	33287900	+	Silent	SNP	C	T	T			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr6:33287900C>T	uc003oec.3	-	4	1557	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|DAXX_uc021ywn.1_Silent_p.E451E|DAXX_uc021ywo.1_Silent_p.E451E|DAXX_uc011dre.2_Silent_p.E463E|DAXX_uc003oed.3_Silent_p.E451E|DAXX_uc011drd.2_Silent_p.E376E	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						cttcttcttcctcctcctcct	0.557000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM									205			5		0	0	0.014758	0	0
AL117485	0	broad.mit.edu	37	22	18844710	18844710	+	RNA	SNP	C	A	A			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr22:18844710C>A	uc002zoe.3	+	3		c.1964C>A			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		AAAATTCCGACCATGGCAGAG	0.557000														51			7		8.12818e-05	8.56362e-05	0.029380	1	0
ARRB2	409	broad.mit.edu	37	17	4619828	4619828	+	Silent	SNP	A	C	C			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr17:4619828A>C	uc010vsg.2	+	4	510	c.282A>C	c.(280-282)ccA>ccC	p.P94P	ARRB2_uc002fyj.3_Silent_p.P94P|ARRB2_uc002fyk.3_Silent_p.P79P|ARRB2_uc002fyl.3_Silent_p.P94P|ARRB2_uc002fym.3_Silent_p.P79P|ARRB2_uc002fyn.3_5'UTR	NM_004313	NP_004304	P32121	ARRB2_HUMAN	Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA.	94					G-protein coupled receptor internalization|cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|negative regulation of NF-kappaB transcription factor activity|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGCCCAACCCACCCCGGCCCC	0.667000														149			13		0	0	0.098360	0	0
MANBA	4126	broad.mit.edu	37	4	103592551	103592551	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr4:103592551G>A	uc003hwg.3	-	8	1217	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	MANBA_uc011ces.2_Missense_Mutation_p.R316W	NM_005908	NP_005899	O00462	MANBA_HUMAN	Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA.	373					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		AAAAGGAGCCGTAACCTGTAG	0.348000														125			5		0	0	0.014758	0	0
ZNF844	284391	broad.mit.edu	37	19	12187475	12187475	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr19:12187475C>G	uc002mtb.2	+	3	1683	c.1540C>G	c.(1540-1542)Cat>Gat	p.H514D	ZNF844_uc010dym.1_Missense_Mutation_p.H357D	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H514D(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAAGCCTTCACATCTGCCTCA	0.408000														284			10		0	0	0.080935	0	0
FMN2	56776	broad.mit.edu	37	1	240371421	240371421	+	Silent	SNP	C	T	T			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr1:240371421C>T	uc010pye.2	+	5	3546	c.3321C>T	c.(3319-3321)ccC>ccT	p.P1107P	FMN2_uc010pyd.2_Silent_p.P1103P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1103	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1246P(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTACCCGGAGTGGGCA	0.736000														151			12		0	0	0.024245	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	G	G	rs3874227	by1000genomes	TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr13:25161397C>G	uc001upm.3	+	7		c.921C>G			TPTE2P6_uc001upn.3_Non-coding_Transcript|TPTE2P6_uc001upo.3_Non-coding_Transcript					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		TGAAACATCTCTACAACTGGA	0.343000														139			17		0	0	0.038395	0	0
MGC16703	113691	broad.mit.edu	37	22	21363392	21363392	+	RNA	SNP	G	A	A	rs28522842	by1000genomes	TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr22:21363392G>A	uc002zty.4	-	2		c.1064C>T			MGC16703_uc010gss.2_Non-coding_Transcript|THAP7-AS1_uc002ztv.3_Non-coding_Transcript					Homo sapiens tubulin, alpha pseudogene (MGC16703), non-coding RNA.																		GGGCCCCATCGAATCACAGGG	0.562000														301			9		0	0	0.062417	0	0
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	A	A			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr16:72821615G>A	uc002fck.3	-	9	11233	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	AK021563_uc002fcj.1_Non-coding_Transcript|ZFHX3_uc002fcl.3_Silent_p.G2606G	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3520	Poly-Gly.				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	p.G3519G(3)		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)				cgccgccgccgccaccgccgc	0.706000														62			8		0	0	0.069234	0	0
SCNN1D	6339	broad.mit.edu	37	1	1222261	1222262	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr1:1222261_1222262insC	uc001adt.1	+	7	1251_1252	c.1025_1026insC	c.(1024-1026)gtcfs	p.V342fs	SCNN1D_uc001adu.1_Frame_Shift_Ins_p.V178fs|SCNN1D_uc001adw.2_Frame_Shift_Ins_p.V244fs|SCNN1D_uc001adv.2_Frame_Shift_Ins_p.V178fs|SCNN1D_uc001adx.2_5'UTR	NM_001130413	NP_001123885			Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA.											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		TCCGCCACTGTCCCCCGCCACG	0.644													---	382	---	---	9	---					
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr1:7838212_7838214delTCA	uc001aol.3	+	3	381_383	c.266_268delTCA	c.(265-270)ttcatc>ttc	p.I94del		NM_004781	NP_004772	Q15836	VAMP3_HUMAN	Homo sapiens vesicle-associated membrane protein 3 (cellubrevin) (VAMP3), mRNA.	94					cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365													---	1316	---	---	13	---					
LOC440563	440563	broad.mit.edu	37	1	13183795	13183795	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr1:13183795delA	uc010obg.2	-	1	321	c.78delT	c.(76-78)cttfs	p.L26fs		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	26						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										TCTTGACAACAAGAGTGTTGA	0.453													---	465	---	---	8	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr1:28800272_28800273insC	uc001bpy.3	+	5	1295_1296	c.1060_1061insC	c.(1060-1062)tccfs	p.S354fs	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Frame_Shift_Ins_p.S344fs|PHACTR4_uc001bpx.3_Frame_Shift_Ins_p.S328fs	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													---	1233	---	---	10	---					
SRSF4	6429	broad.mit.edu	37	1	29475219	29475221	+	In_Frame_Del	DEL	CTT	-	-	rs138237342	by1000genomes	TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr1:29475219_29475221delCTT	uc001bro.3	-	5	1559_1561	c.1186_1188delAAG	c.(1186-1188)aagdel	p.K396del	SRSF4_uc010ofy.2_3'UTR	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	Homo sapiens serine/arginine-rich splicing factor 4 (SRSF4), mRNA.	396	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CAGTGTCTTCCTTCTTCTTCTTC	0.601													---	652	---	---	26	---					
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr1:32670247_32670248delTG	uc021okt.1	+	4	706_707	c.574_575delTG	c.(574-576)tgtfs	p.C192fs	CCDC28B_uc001bul.1_Intron|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank	NM_024296	NP_077272	Q9BUN5	CC28B_HUMAN	Homo sapiens coiled-coil domain containing 28B (CCDC28B), mRNA.	0								p.A192V(1)		large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													---	994	---	---	7	---					
AGL	178	broad.mit.edu	37	1	100378028	100378028	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr1:100378028delA	uc001dsi.1	+	28	4304	c.3904delA	c.(3904-3906)aaafs	p.K1302fs	AGL_uc001dsj.1_Frame_Shift_Del_p.K1302fs|AGL_uc001dsk.1_Frame_Shift_Del_p.K1302fs|AGL_uc001dsl.1_Frame_Shift_Del_p.K1302fs|AGL_uc001dsm.1_Frame_Shift_Del_p.K1286fs|AGL_uc001dsn.1_Frame_Shift_Del_p.K1285fs	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	1302					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GGAATTATCCAAAAAAAATAT	0.323													---	440	---	---	12	---					
HIAT1	64645	broad.mit.edu	37	1	100534122	100534122	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr1:100534122delT	uc001dst.3	+	6	799	c.799delT	c.(799-801)tttfs	p.F267fs		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	Homo sapiens hippocampus abundant transcript 1 (HIAT1), mRNA.	267					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ATATTCCAGCTTTTTTTTATA	0.388													---	603	---	---	8	---					
AP4B1	10717	broad.mit.edu	37	1	114438939	114438939	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr1:114438939delA	uc001eeb.3	-	7	1637	c.1451delT	c.(1450-1452)ttcfs	p.F484fs	LOC100287722_uc001edv.1_Intron|AP4B1_uc001eec.3_Frame_Shift_Del_p.F316fs|AP4B1_uc010owp.2_Frame_Shift_Del_p.F385fs|AP4B1_uc001eed.3_Frame_Shift_Del_p.F484fs|AP4B1_uc001eea.1_Frame_Shift_Del_p.F278fs|AP4B1_uc001eee.1_Frame_Shift_Del_p.F11fs	NM_001253852	NP_001240781	Q9Y6B7	AP4B1_HUMAN	Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA.	484					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCGGGAGAGGAAAAGGCGCAG	0.458													---	768	---	---	7	---					
HFE2	148738	broad.mit.edu	37	1	145415369	145415371	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr1:145415369_145415371delGAG	uc001eni.2	+	2	513_515	c.188_190delGAG	c.(187-192)cgagga>cga	p.G69del	HFE2_uc001enk.2_5'UTR|HFE2_uc001enj.2_Intron|HFE2_uc001enl.2_Intron|HFE2_uc021oux.1_5'Flank	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	69	Poly-Gly.			G -> GG (in Ref. 3; ABC40718).	axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCACTTCGAGGAGGAGGAGG	0.626													---	474	---	---	12	---					
POLR3GL	84265	broad.mit.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr1:145457040_145457042delTCT	uc001enp.1	-	6	626_628	c.519_521delAGA	c.(517-522)gaagag>gag	p.173_174EE>E		NM_032305	NP_115681	Q9BT43	RPC7L_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like (POLR3GL), mRNA.	173	Glu-rich.									endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ctcttccttctcttcttcttctt	0.448													---	135	---	---	7	---					
FLAD1	80308	broad.mit.edu	37	1	154962050	154962050	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr1:154962050delA	uc001fgf.2	+	2	1533	c.1132delA	c.(1132-1134)aaafs	p.K378fs	FLAD1_uc001fgd.2_Frame_Shift_Del_p.K378fs|FLAD1_uc001fge.2_Frame_Shift_Del_p.K281fs|FLAD1_uc001fgg.2_Frame_Shift_Del_p.K281fs|FLAD1_uc001fgh.1_Intron	NM_025207	NP_958800	Q8NFF5	FAD1_HUMAN	Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1), transcript variant 1, mRNA.	378					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	p.K378E(6)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTCTTTGGGGAAAAAGGTGGC	0.567													---	698	---	---	7	---					
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr1:155886422_155886423delCT	uc001fmi.1	-	11	1570_1571	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_uc001fmj.1_Frame_Shift_Del_p.R516fs|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	516								p.R516fs*21(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396													---	1027	---	---	43	---					
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	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													---	262	---	---	11	---					
APOBEC4	403314	broad.mit.edu	37	1	183616826	183616828	+	In_Frame_Del	DEL	TTC	-	-	rs141411396		TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr1:183616826_183616828delTTC	uc021pgc.1	-	0	1089_1091	c.1089_1091delGAA	c.(1087-1092)aagaaa>aaa	p.363_364KK>K	RGL1_uc010pof.1_Intron|RGL1_uc001gqm.3_Intron|RGL1_uc010pog.2_Intron|RGL1_uc010poh.2_Intron|APOBEC4_uc001gqn.3_In_Frame_Del_p.363_364KK>K	NM_203454	NP_982279	Q8WW27	ABEC4_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) (APOBEC4), mRNA.	363					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTTCTTCCCTTTCTTCTTCTTCT	0.419													---	804	---	---	8	---					
TGFB2	7042	broad.mit.edu	37	1	218609370	218609371	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr1:218609370_218609371insA	uc001hlm.3	+	4	2181_2182	c.813_814insA	c.(811-816)aggaaafs	p.R271fs	TGFB2_uc001hln.3_Frame_Shift_Ins_p.R299fs|TGFB2_uc010pue.2_Intron|TGFB2_uc001hlo.3_Intron	NM_003238	NP_003229	P61812	TGFB2_HUMAN	Homo sapiens transforming growth factor, beta 2 (TGFB2), transcript variant 2, mRNA.	271					SMAD protein import into nucleus|activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AGTCCACTAGGAAAAAAAACAG	0.431													---	352	---	---	7	---					
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr1:237024474delA	uc001hyi.4	+	19	2516	c.2093delA	c.(2092-2094)caafs	p.Q698fs	MTR_uc010pxw.2_Frame_Shift_Del_p.Q291fs|MTR_uc010pxx.2_Intron|MTR_uc010pxy.2_Frame_Shift_Del_p.Q552fs	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	698	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	p.N697T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308													---	385	---	---	10	---					
FMN2	56776	broad.mit.edu	37	1	240371335	240371337	+	In_Frame_Del	DEL	CCC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr1:240371335_240371337delCCC	uc010pye.2	+	5	3460_3462	c.3235_3237delCCC	c.(3235-3237)cccdel	p.P1083del	FMN2_uc010pyd.2_In_Frame_Del_p.P1079del	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1079	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.G1082R(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCGGGCATACCCCCTCCGCCCC	0.729													---	158	---	---	9	---					
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	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													---	784	---	---	17	---					
GPR113	165082	broad.mit.edu	37	2	26534413	26534413	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr2:26534413delC	uc002rhe.4	-	10	2183	c.2183delG	c.(2182-2184)ggtfs	p.G728fs	GPR113_uc010yky.1_Frame_Shift_Del_p.G659fs|GPR113_uc002rhb.1_Frame_Shift_Del_p.G331fs|GPR113_uc010eyk.1_Frame_Shift_Del_p.G529fs|GPR113_uc002rhc.1_Frame_Shift_Del_p.G331fs|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	728	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G529fs*46(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGGACCAACCCCCCCTGCC	0.612													---	523	---	---	7	---					
CEBPZ	10153	broad.mit.edu	37	2	37454908	37454908	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr2:37454908delT	uc002rpz.3	-	1	1458	c.1428delA	c.(1426-1428)aaafs	p.K476fs		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	476					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATTCAACATCTTTTTTTTTGA	0.368													---	267	---	---	11	---					
FAM82A1	151393	broad.mit.edu	37	2	38178783	38178783	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr2:38178783delT	uc002rqn.2	+	1	551	c.425delT	c.(424-426)attfs	p.I142fs	FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	0						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						AAGAGTGCCATTTTTTTTGAT	0.333													---	454	---	---	8	---					
USP34	9736	broad.mit.edu	37	2	61575023	61575025	+	In_Frame_Del	DEL	TGG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr2:61575023_61575025delTGG	uc002sbe.3	-	14	2287_2289	c.2265_2267delCCA	c.(2263-2268)caccat>cat	p.755_756HH>H		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	755					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			gtggtggtgatggtggtggtggt	0.389													---	408	---	---	10	---					
REV1	51455	broad.mit.edu	37	2	100055102	100055102	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr2:100055102delT	uc002tad.3	-	5	1386	c.1174delA	c.(1174-1176)atgfs	p.M392fs	REV1_uc002tac.3_Frame_Shift_Del_p.M392fs|REV1_uc002tae.1_Frame_Shift_Del_p.M371fs	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	392					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTGTTTTCATTTTTTTTAAC	0.348								Direct reversal of damage					---	606	---	---	11	---					
COL5A2	1290	broad.mit.edu	37	2	189943835	189943836	+	Splice_Site	INS	-	A	A			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr2:189943835_189943836insA	uc002uqk.3	-	15	1236	c.961_splice	c.e15-1	p.G321_splice	COL5A2_uc010frx.3_Splice_Site_p.G74_splice	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	321					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AGCTTCACCCTAAAAAAAAATG	0.381													---	402	---	---	10	---					
TMEFF2	23671	broad.mit.edu	37	2	193059175	193059177	+	In_Frame_Del	DEL	GCA	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr2:193059175_193059177delGCA	uc002utc.3	-	0	468_470	c.74_76delTGC	c.(73-78)ctgccc>ccc	p.L25del	TMEFF2_uc002utd.1_In_Frame_Del_p.L25del	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	25						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AGCATGACGGGCAGCAGCAGCAG	0.601													---	417	---	---	7	---					
ALS2CR11	151254	broad.mit.edu	37	2	202352352	202352352	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	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													---	429	---	---	13	---					
RAPH1	65059	broad.mit.edu	37	2	204322298	204322298	+	Frame_Shift_Del	DEL	T	-	-	rs2469953	byFrequency	TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr2:204322298delT	uc002vad.3	-	7	1338	c.1113delA	c.(1111-1113)aaafs	p.K371fs	RAPH1_uc002vae.3_Frame_Shift_Del_p.K423fs|RAPH1_uc002vaf.3_Frame_Shift_Del_p.K423fs	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	371					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGCTGTTTCTTTTTTCCCCA	0.373													---	785	---	---	8	---					
TRPM8	79054	broad.mit.edu	37	2	234879010	234879010	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr2:234879010delC	uc002vvh.3	+	16	2335	c.2295delC	c.(2293-2295)cacfs	p.H765fs	TRPM8_uc010fyj.3_Intron	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	765						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CGGTGCCACACCCCCCCGAGC	0.577													---	1847	---	---	7	---					
HHATL	57467	broad.mit.edu	37	3	42739670	42739672	+	In_Frame_Del	DEL	GAA	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr3:42739670_42739672delGAA	uc003clw.3	-	6	802_804	c.655_657delTTC	c.(655-657)ttcdel	p.F219del	HHATL_uc003clx.3_In_Frame_Del_p.F219del	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	219					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TGATGGGCCCGAAGAAGAAGAAG	0.552													---	556	---	---	8	---					
CDC25A	993	broad.mit.edu	37	3	48200922	48200923	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr3:48200922_48200923delTC	uc003csh.1	-	13	1709_1710	c.1345_1346delGA	c.(1345-1347)gatfs	p.D449fs	CDC25A_uc003csi.1_Frame_Shift_Del_p.D409fs|CDC25A_uc021wxk.1_Frame_Shift_Del_p.D408fs	NM_001789	NP_001780	P30304	MPIP1_HUMAN	Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA.	449	Rhodanese.				DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|mitosis|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ACCCAGGCGATCTCTCTCTCTC	0.515													---	441	---	---	8	---					
USP4	7375	broad.mit.edu	37	3	49321969	49321971	+	In_Frame_Del	DEL	TCT	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr3:49321969_49321971delTCT	uc003cwq.2	-	17	2397_2399	c.2318_2320delAGA	c.(2317-2322)aagacc>acc	p.K773del	USP4_uc003cwp.2_In_Frame_Del_p.K503del|USP4_uc003cwr.2_In_Frame_Del_p.K726del	NM_003363	NP_003354	Q13107	UBP4_HUMAN	Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA.	773					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCCACTGTGGTCTTCTTCTTCTT	0.532													---	592	---	---	11	---					
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Translation_Start_Site	DEL	GAT	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr3:53529193_53529195delGAT	uc003dgv.4	+	0					CACNA1D_uc003dgu.4_Start_Codon_Del|CACNA1D_uc003dgy.4_Start_Codon_Del	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581													---	601	---	---	15	---					
LRIG1	26018	broad.mit.edu	37	3	66436625	66436627	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr3:66436625_66436627delGCT	uc003dmx.3	-	12	1581_1583	c.1567_1569delAGC	c.(1567-1569)agcdel	p.S524del	SLC25A26_uc011bft.2_Non-coding_Transcript|LRIG1_uc011bfu.2_In_Frame_Del_p.S144del|LRIG1_uc003dmw.3_In_Frame_Del_p.S190del|LRIG1_uc010hnz.3_In_Frame_Del_p.S240del|LRIG1_uc010hoa.3_In_Frame_Del_p.S548del	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	524	Ig-like C2-type 1.|Poly-Ser.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCATGGGGGAGCTGCTGCTGCTG	0.547													---	1645	---	---	11	---					
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	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													---	261	---	---	8	---					
DPPA4	55211	broad.mit.edu	37	3	109049606	109049606	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr3:109049606delT	uc003dxq.4	-	4	499	c.444delA	c.(442-444)aaafs	p.K148fs	DPPA4_uc011bho.2_Intron|DPPA4_uc011bhp.1_Frame_Shift_Del_p.K148fs	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	148						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CCACCTTTAATTTTTTTTGCA	0.413													---	542	---	---	8	---					
KIAA2018	205717	broad.mit.edu	37	3	113380090	113380090	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr3:113380090delT	uc003eam.3	-	6	850	c.439delA	c.(439-441)attfs	p.I147fs	KIAA2018_uc003eal.3_Frame_Shift_Del_p.I91fs	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	147					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.K146Q(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAACAATAATTTTTTTTTGA	0.373													---	525	---	---	10	---					
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr3:129370576_129370578delCTG	uc021xdy.1	-	5	2142_2144	c.1708_1710delCAG	c.(1708-1710)cagdel	p.Q570del	TMCC1_uc003emy.4_In_Frame_Del_p.Q246del|TMCC1_uc011blc.2_In_Frame_Del_p.Q391del|TMCC1_uc010htg.3_In_Frame_Del_p.Q456del	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	570						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581													---	525	---	---	26	---					
TFDP2	7029	broad.mit.edu	37	3	141692946	141692947	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr3:141692946_141692947insT	uc003eun.4	-	7	1060_1061	c.606_607insA	c.(604-609)aaagaafs	p.K202fs	TFDP2_uc003euk.4_Frame_Shift_Ins_p.K174fs|TFDP2_uc003eul.4_Frame_Shift_Ins_p.K142fs|TFDP2_uc011bnf.2_Frame_Shift_Ins_p.K105fs|TFDP2_uc011bng.2_Frame_Shift_Ins_p.K66fs|TFDP2_uc003eum.4_Frame_Shift_Ins_p.K142fs	NM_001178139	NP_001171613	Q14188	TFDP2_HUMAN	Homo sapiens transcription factor Dp-2 (E2F dimerization partner 2) (TFDP2), transcript variant 3, mRNA.	202					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						CACTTGATTTCTTTTTTTTCCT	0.342													---	553	---	---	10	---					
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr3:151148114_151148116delCAG	uc003eyp.3	+	41	6460_6462	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_uc011bnz.2_In_Frame_Del_p.Q1779del	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	2115	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527													---	482	---	---	12	---					
SEC62	7095	broad.mit.edu	37	3	169700663	169700664	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr3:169700663_169700664insA	uc003fgg.3	+	3	451_452	c.420_421insA	c.(418-423)gagaaafs	p.E140fs	SEC62_uc003fgh.3_Frame_Shift_Ins_p.E140fs	NM_003262	NP_003253	Q99442	SEC62_HUMAN	Homo sapiens SEC62 homolog (S. cerevisiae) (SEC62), mRNA.	140					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						aagaaaaagagaaaaaaaaaga	0.277													---	115	---	---	10	---					
FXR1	8087	broad.mit.edu	37	3	180666228	180666228	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr3:180666228delA	uc003fkq.3	+	4	604	c.364delA	c.(364-366)aaafs	p.K122fs	FXR1_uc003fkp.3_Frame_Shift_Del_p.K37fs|FXR1_uc003fkr.3_Frame_Shift_Del_p.K122fs|FXR1_uc011bqj.2_Frame_Shift_Del_p.K36fs|FXR1_uc003fks.3_Frame_Shift_Del_p.K36fs|FXR1_uc011bqk.2_Frame_Shift_Del_p.K73fs|FXR1_uc011bql.2_Frame_Shift_Del_p.K109fs	NM_005087	NP_001013457	P51114	FXR1_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA.	122					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		p.N124fs*14(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TAAAACTGTCAAAAAAAATAC	0.333													---	364	---	---	9	---					
PDE6B	5158	broad.mit.edu	37	4	661763	661765	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr4:661763_661765delAGG	uc003gap.3	+	20	2524_2526	c.2471_2473delAGG	c.(2470-2475)aaggag>aag	p.E828del	PDE6B_uc003gao.4_In_Frame_Del_p.E828del|PDE6B_uc011buy.2_In_Frame_Del_p.E549del|PDE6B_uc011buz.2_In_Frame_Del_p.E260del	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	828					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CTGGAGGAGAAGGAGGAGGAGGA	0.562													---	750	---	---	19	---					
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr4:1019055_1019056delCA	uc003gce.3	+	6	1596_1597	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	FGFRL1_uc003gcf.3_Frame_Shift_Del_p.H479fs|FGFRL1_uc003gcg.3_Frame_Shift_Del_p.H479fs|FGFRL1_uc010ibo.3_Frame_Shift_Del_p.H479fs	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	479	His-rich.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584													---	44	---	---	9	---					
PROM1	8842	broad.mit.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	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													---	499	---	---	8	---					
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	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													---	429	---	---	9	---					
ANTXR2	118429	broad.mit.edu	37	4	80905990	80905990	+	Frame_Shift_Del	DEL	C	-	-	rs12647691	by1000genomes	TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr4:80905990delC	uc003hlz.4	-	12	1832	c.1069delG	c.(1069-1071)gccfs	p.A357fs	ANTXR2_uc003hly.4_Frame_Shift_Del_p.A357fs|ANTXR2_uc003hlx.1_Non-coding_Transcript|ANTXR2_uc010ijn.3_Frame_Shift_Del_p.A254fs	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN	Homo sapiens anthrax toxin receptor 2 (ANTXR2), transcript variant 2, mRNA.	357	Poly-Pro.		A -> P (in dbSNP:rs12647691).			endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GGTGCAGGGGCGGGTGGTGGT	0.348									Juvenile Hyaline Fibromatosis				---	93	---	---	10	---					
ADAD1	132612	broad.mit.edu	37	4	123302211	123302211	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr4:123302211delA	uc003ieo.3	+	3	469	c.237delA	c.(235-237)ccafs	p.P79fs	ADAD1_uc003iep.3_Frame_Shift_Del_p.P79fs|ADAD1_uc003ieq.3_Frame_Shift_Del_p.P61fs	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	79					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTTCCTCCAAAAAAAATAC	0.358													---	395	---	---	8	---					
ANP32C	23520	broad.mit.edu	37	4	165118286	165118288	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr4:165118286_165118288delTCC	uc011cjk.2	-	0	576_578	c.576_578delGGA	c.(574-579)gaggaa>gaa	p.192_193EE>E	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	192	Asp/Glu-rich (highly acidic).							p.E192E(2)|p.E192*(1)		NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		ctcttcaccttcctcctcctcct	0.547													---	137	---	---	7	---					
HMGB2	3148	broad.mit.edu	37	4	174253277	174253279	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr4:174253277_174253279delTCC	uc011ckc.1	-	3	702_704	c.582_584delGGA	c.(580-585)gaggaa>gaa	p.194_195EE>E	HMGB2_uc003ita.3_In_Frame_Del_p.194_195EE>E|HMGB2_uc003itb.2_In_Frame_Del_p.194_195EE>E	NM_001130689	NP_002120	P26583	HMGB2_HUMAN	Homo sapiens high mobility group box 2 (HMGB2), transcript variant 3, mRNA.	194	Asp/Glu-rich (acidic).				DNA fragmentation involved in apoptotic nuclear change|DNA topological change|V(D)J recombination|base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	DNA bending activity|RAGE receptor binding|chemoattractant activity|damaged DNA binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	p.E194E(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		atcttcttcttcctcctcctcct	0.468													---	497	---	---	8	---					
THBS4	7060	broad.mit.edu	37	5	79372774	79372776	+	In_Frame_Del	DEL	TGA	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr5:79372774_79372776delTGA	uc021yaw.1	+	15	2180_2182	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	668					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562													---	1355	---	---	15	---					
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	-	-	rs80118146		TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr5:115202418_115202421delAAGA	uc003krl.3	+	1	237_240	c.121_124delAAGA	c.(121-126)aagagafs	p.K41fs	AP3S1_uc003krk.3_Frame_Shift_Del_p.K19fs	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	Homo sapiens adaptor-related protein complex 3, sigma 1 subunit (AP3S1), mRNA.	41					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|Golgi apparatus|cytoplasmic vesicle membrane|transport vesicle	protein binding|protein transporter activity	p.R42I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304													---	320	---	---	14	---					
MEGF10	84466	broad.mit.edu	37	5	126792989	126792991	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr5:126792989_126792991delCAG	uc003kuh.4	+	25	3764_3766	c.3402_3404delCAG	c.(3400-3405)aacagc>aac	p.S1139del	MEGF10_uc003kui.4_In_Frame_Del_p.S1139del	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	1139	Necessary for formation of large intracellular vacuoles.|Ser-rich.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		gcagcagcaacagcagcagcagc	0.512													---	326	---	---	8	---					
CDC25C	995	broad.mit.edu	37	5	137627690	137627690	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr5:137627690delT	uc003lcs.1	-	7	1165	c.965delA	c.(964-966)aagfs	p.K322fs	CDC25C_uc003lcp.1_Frame_Shift_Del_p.K244fs|CDC25C_uc003lcq.1_Frame_Shift_Del_p.K171fs|CDC25C_uc003lcr.1_Frame_Shift_Del_p.K244fs|CDC25C_uc011cyp.1_Frame_Shift_Del_p.K261fs	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	244	Rhodanese.				DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGAAAAATACTTTTTTTTAAC	0.388													---	513	---	---	7	---					
HAVCR2	84868	broad.mit.edu	37	5	156535948	156535950	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr5:156535948_156535950delAGC	uc003lwk.2	-	0	299_301	c.45_47delGCT	c.(43-48)ctgcta>cta	p.15_16LL>L	HAVCR2_uc003lwl.3_In_Frame_Del_p.15_16LL>L	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Homo sapiens hepatitis A virus cellular receptor 2 (HAVCR2), mRNA.	15						integral to membrane		p.L15L(2)|p.L18delL(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTAAGTAGTAGCAGCAGCAGCA	0.438													---	350	---	---	7	---					
HMMR	3161	broad.mit.edu	37	5	162917425	162917426	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr5:162917425_162917426insA	uc003lzh.3	+	16	2174_2175	c.1992_1993insA	c.(1990-1995)gctaaafs	p.A664fs	HMMR_uc003lzf.3_Frame_Shift_Ins_p.A663fs|HMMR_uc003lzg.3_Frame_Shift_Ins_p.A648fs|HMMR_uc011dem.2_Frame_Shift_Ins_p.A577fs|BC035392_uc003lzi.3_Intron	NM_001142556	NP_001136028	O75330	HMMR_HUMAN	Homo sapiens hyaluronan-mediated motility receptor (RHAMM) (HMMR), transcript variant 1, mRNA.	663	Hyaluronic acid-binding (Potential).					cell surface|cytoplasm	hyaluronic acid binding	p.A663S(1)		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)		GTCAGCTTGCTAAAAAAAAACA	0.307													---	425	---	---	13	---					
CANX	821	broad.mit.edu	37	5	179149920	179149920	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr5:179149920delT	uc011dgp.2	+	10	1478	c.1403delT	c.(1402-1404)attfs	p.I468fs	CANX_uc003mkk.3_Frame_Shift_Del_p.I433fs|CANX_uc003mkl.3_Frame_Shift_Del_p.I433fs|CANX_uc011dgq.2_Frame_Shift_Del_p.I325fs	NM_001746	NP_001737	P27824	CALX_HUMAN	Homo sapiens calnexin (CANX), transcript variant 1, mRNA.	433					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTCTGACATTTTTTTTGAC	0.423													---	514	---	---	8	---					
TRIM52	84851	broad.mit.edu	37	5	180687612	180687614	+	In_Frame_Del	DEL	TCC	-	-	rs146030758		TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr5:180687612_180687614delTCC	uc003mnp.3	-	0	506_508	c.201_203delGGA	c.(199-204)gaggac>gac	p.E67del	BC016291_uc003mnq.3_5'Flank	NM_032765	NP_116154	Q96A61	TRI52_HUMAN	Homo sapiens tripartite motif containing 52 (TRIM52), mRNA.	67	Glu-rich.					intracellular	zinc ion binding	p.E67K(1)|p.E66D(1)		endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		CGCTtcctcgtcctcctcctcct	0.581													---	474	---	---	7	---					
BTN2A2	10385	broad.mit.edu	37	6	26384091	26384093	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr6:26384091_26384093delCCT	uc003nht.3	+	1	175_177	c.42_44delCCT	c.(40-45)tccctc>tcc	p.L24del	BTN2A2_uc003nhs.3_In_Frame_Del_p.L24del|BTN2A2_uc011dkf.2_In_Frame_Del_p.L24del|BTN2A2_uc003nhq.3_In_Frame_Del_p.L24del|BTN2A2_uc003nhr.3_In_Frame_Del_p.L24del|BTN2A2_uc011dkh.2_In_Frame_Del_p.L24del|BTN2A2_uc011dkg.2_In_Frame_Del_p.L24del	NM_001197237	NP_001184166	Q8WVV5	BT2A2_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A2 (BTN2A2), transcript variant 3, mRNA.	24					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGCCAGCCTCcctcctcctcctc	0.581													---	481	---	---	12	---					
CDSN	1041	broad.mit.edu	37	6	31084620	31084622	+	In_Frame_Del	DEL	CCA	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr6:31084620_31084622delCCA	uc003nsm.2	-	1	826_828	c.770_772delTGG	c.(769-774)gtggac>gac	p.V257del	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	257	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CCGTGCTGGTCCACCACCACCAC	0.635													---	249	---	---	8	---					
TULP1	7287	broad.mit.edu	37	6	35478775	35478777	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr6:35478775_35478777delTCC	uc003okv.4	-	4	372_374	c.360_362delGGA	c.(358-363)gaggaa>gaa	p.120_121EE>E	TULP1_uc003okw.4_In_Frame_Del_p.67_68EE>E|TULP1_uc021yyx.1_In_Frame_Del_p.120_121EE>E|TULP1_uc021yyy.1_In_Frame_Del_p.120_121EE>E	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	120	Poly-Glu.		Missing (in RP14).		dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	p.E119K(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						gtcctcctcttcctcctcctcct	0.567													---	617	---	---	7	---					
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr6:41621169_41621171delCTG	uc003oqq.4	+	4	804_806	c.597_599delCTG	c.(595-600)ctctgc>ctc	p.C204del	MDFI_uc010jxn.3_In_Frame_Del_p.C204del	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	204	Cys-rich.				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655													---	547	---	---	17	---					
UBR2	23304	broad.mit.edu	37	6	42611951	42611951	+	Splice_Site	DEL	G	-	-	rs112519289		TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr6:42611951delG	uc011dur.2	+	19	2396	c.2098_splice	c.e19-1	p.T700_splice	UBR2_uc011dus.2_Splice_Site_p.T345_splice|UBR2_uc010jxv.1_Splice_Site_p.T204_splice|UBR2_uc003osh.3_Splice_Site	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	700					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AAAAAAAAAAGACAGGTGTCT	0.373													---	484	---	---	7	---					
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	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													---	1290	---	---	7	---					
HCRTR2	3062	broad.mit.edu	37	6	55039411	55039411	+	Frame_Shift_Del	DEL	C	-	-	rs76774128		TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr6:55039411delC	uc003pcl.3	+	0	341	c.26delC	c.(25-27)tccfs	p.S9fs	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTGGAGGACTCCCCCCCTTGT	0.567													---	765	---	---	7	---					
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr6:88144700delA	uc003plv.3	+	10	1546	c.1423delA	c.(1423-1425)aaafs	p.K475fs	SLC35A1_uc003plx.3_5'Flank|C6orf165_uc003plu.2_Frame_Shift_Del_p.K475fs|C6orf165_uc003plw.3_Frame_Shift_Del_p.K287fs|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	475								p.A474D(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269													---	435	---	---	12	---					
MDN1	23195	broad.mit.edu	37	6	90432675	90432675	+	Splice_Site	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr6:90432675delT	uc003pnn.1	-	40	6083	c.5967_splice	c.e40+1	p.K1989_splice		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	1989					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAAACTCACCTTTTTTTTGTC	0.403													---	952	---	---	16	---					
FYN	2534	broad.mit.edu	37	6	111983042	111983042	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr6:111983042delT	uc003pvj.3	-	12	1854	c.1514delA	c.(1513-1515)aagfs	p.K505fs	FYN_uc003pvi.3_Frame_Shift_Del_p.K450fs|FYN_uc003pvk.3_Frame_Shift_Del_p.K505fs|FYN_uc003pvh.3_Frame_Shift_Del_p.K502fs	NM_002037	NP_002028	P06241	FYN_HUMAN	Homo sapiens FYN oncogene related to SRC, FGR, YES (FYN), transcript variant 1, mRNA.	505	Protein kinase.				T cell costimulation|T cell receptor signaling pathway|axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TTCAGGGTCCTTTTTCCAGCA	0.562													---	1209	---	---	9	---					
GRM1	2911	broad.mit.edu	37	6	146755630	146755632	+	In_Frame_Del	DEL	GAC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr6:146755630_146755632delGAC	uc010khw.1	+	8	3753_3755	c.3283_3285delGAC	c.(3283-3285)gacdel	p.D1099del	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	1099	Asp/Glu-rich (acidic).				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)	CCCGCCCGCGGACGACGACGACG	0.650													---	688	---	---	7	---					
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr6:155743925_155743926delCA	uc003qqm.3	-	9	1313_1314	c.1210_1211delTG	c.(1210-1212)tgcfs	p.C404fs		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	404							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.530													---	922	---	---	7	---					
AGPAT4	56895	broad.mit.edu	37	6	161560589	161560589	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr6:161560589delG	uc003qtr.1	-	7	1134	c.907delC	c.(907-909)cggfs	p.R303fs	AGPAT4_uc003qts.1_Frame_Shift_Del_p.R163fs|AGPAT4_uc011egb.1_Frame_Shift_Del_p.R141fs	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA.	303					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	p.R303fs*7(4)|p.R303fs*60(2)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CAGGGCCGCCGGGGGGGCACC	0.627													---	741	---	---	7	---					
ZDHHC4	55146	broad.mit.edu	37	7	6621849	6621849	+	Frame_Shift_Del	DEL	T	-	-	rs34551853		TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr7:6621849delT	uc003sqi.3	+	5	695	c.337delT	c.(337-339)tttfs	p.F113fs	ZDHHC4_uc003sql.3_Frame_Shift_Del_p.F113fs|ZDHHC4_uc003sqj.3_Frame_Shift_Del_p.F113fs|ZDHHC4_uc003sqh.3_Frame_Shift_Del_p.F113fs	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	113						integral to membrane	acyltransferase activity|zinc ion binding	p.F115fs*3(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGTAAACCTGTTTTTTTTCAC	0.453													---	1117	---	---	10	---					
C7orf44	55744	broad.mit.edu	37	7	43679188	43679188	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr7:43679188delT	uc003tin.1	-	5	528	c.434delA	c.(433-435)aagfs	p.K145fs	C7orf44_uc003tij.3_Non-coding_Transcript|C7orf44_uc010kxu.2_Non-coding_Transcript|C7orf44_uc003tio.1_Frame_Shift_Del_p.K145fs|C7orf44_uc003tip.1_Frame_Shift_Del_p.K145fs	NM_018224	NP_060694	Q9GZY4	CG044_HUMAN	Homo sapiens chromosome 7 open reading frame 44 (C7orf44), mRNA.	145						integral to membrane				large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TCTCTACTCCTTTTTCACTTC	0.517													---	688	---	---	7	---					
STYXL1	51657	broad.mit.edu	37	7	75651194	75651196	+	In_Frame_Del	DEL	ATC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr7:75651194_75651196delATC	uc003uel.3	-	3	623_625	c.280_282delGAT	c.(280-282)gatdel	p.D94del	STYXL1_uc011kgg.2_5'UTR|STYXL1_uc003ueh.3_In_Frame_Del_p.M4del|STYXL1_uc011kgf.2_In_Frame_Del_p.M4del|STYXL1_uc003uek.4_Intron|STYXL1_uc003uem.3_In_Frame_Del_p.D94del|STYXL1_uc010ldg.2_Non-coding_Transcript|STYXL1_uc010ldh.2_In_Frame_Del_p.D94del|STYXL1_uc003uen.1_In_Frame_Del_p.D94del	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	Homo sapiens serine/threonine/tyrosine interacting-like 1 (STYXL1), mRNA.	94	Rhodanese.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						CAGAGTCTGAATCATCATCATCA	0.433													---	1745	---	---	7	---					
PCLO	27445	broad.mit.edu	37	7	82595446	82595447	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	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													---	745	---	---	8	---					
ABCB4	5244	broad.mit.edu	37	7	87074281	87074282	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr7:87074281_87074282insA	uc003uiv.1	-	9	1091_1092	c.1015_1016insT	c.(1015-1017)tcafs	p.S339fs	ABCB4_uc003uiw.1_Frame_Shift_Ins_p.S339fs|ABCB4_uc003uix.1_Frame_Shift_Ins_p.S339fs	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	339	ABC transmembrane type-1 1.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.S339fs*3(2)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AATTAGGATTGAAAAAAAAACC	0.347													---	182	---	---	9	---					
MEPCE	56257	broad.mit.edu	37	7	100028823	100028825	+	In_Frame_Del	DEL	CCA	-	-	rs71555278		TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr7:100028823_100028825delCCA	uc003uuw.3	+	0	1570_1572	c.1182_1184delCCA	c.(1180-1185)cgccac>cgc	p.H399del	ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_5'UTR|MEPCE_uc022aio.1_5'UTR|MEPCE_uc003uuv.3_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.	399							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGAGGCCGCCACCACCACCAC	0.581													---	319	---	---	7	---					
GIGYF1	64599	broad.mit.edu	37	7	100284335	100284337	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr7:100284335_100284337delCCT	uc003uwg.1	-	6	1638_1640	c.629_631delAGG	c.(628-633)gagggc>ggc	p.E210del		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	210	Poly-Glu.							p.E210delE(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCAGCTGCcctcctcctcctc	0.700													---	213	---	---	8	---					
SRRT	51593	broad.mit.edu	37	7	100482040	100482042	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr7:100482040_100482042delAGG	uc003uwy.2	+	6	1076_1078	c.809_811delAGG	c.(808-813)caggag>cag	p.E275del	SRRT_uc010lhl.1_In_Frame_Del_p.E275del|SRRT_uc003uxa.2_In_Frame_Del_p.E275del|SRRT_uc003uwz.2_In_Frame_Del_p.E275del	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	275	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATCCTGGAGCAGGAGGAGGAGGA	0.596													---	150	---	---	9	---					
DNAJC2	27000	broad.mit.edu	37	7	102964992	102964992	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr7:102964992delT	uc003vbo.3	-	5	841	c.590delA	c.(589-591)aatfs	p.N197fs	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.3_5'UTR|DNAJC2_uc010lix.3_Frame_Shift_Del_p.N197fs|DNAJC2_uc003vbp.3_5'UTR|DNAJC2_uc003vbq.1_Non-coding_Transcript	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 2 (DNAJC2), transcript variant 1, mRNA.	197	ZRF1-UBD.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	DNA binding|Hsp70 protein binding|chromatin binding|histone binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TTTAGGAACATTTTTTTTATT	0.239													---	453	---	---	7	---					
FOXP2	93986	broad.mit.edu	37	7	114270016	114270018	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr7:114270016_114270018delCAG	uc003vhb.3	+	4	927_929	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_In_Frame_Del_p.Q216del|FOXP2_uc003vha.3_In_Frame_Del_p.Q99del|FOXP2_uc011kmv.2_In_Frame_Del_p.Q191del|FOXP2_uc011kmu.2_In_Frame_Del_p.Q208del|FOXP2_uc010ljz.2_In_Frame_Del_p.Q99del|FOXP2_uc003vgt.2_Non-coding_Transcript|FOXP2_uc003vgv.1_In_Frame_Del_p.Q191del|FOXP2_uc003vgx.2_In_Frame_Del_p.Q191del|FOXP2_uc003vhc.3_In_Frame_Del_p.Q216del|FOXP2_uc003vhd.3_In_Frame_Del_p.Q191del	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	191	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	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	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507													---	351	---	---	17	---					
LUC7L2	51631	broad.mit.edu	37	7	139094365	139094366	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	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													---	152	---	---	10	---					
MLL3	58508	broad.mit.edu	37	7	151874013	151874013	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr7:151874013delT	uc003wla.3	-	37	8744	c.8525delA	c.(8524-8526)aatfs	p.N2842fs	MLL3_uc003wkz.3_Frame_Shift_Del_p.N1903fs|MLL3_uc003wky.3_Frame_Shift_Del_p.N351fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2842					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATTCTCATCATTTTTTTCAGT	0.378			N		medulloblastoma								---	740	---	---	8	---					
DLC1	10395	broad.mit.edu	37	8	12957611	12957613	+	In_Frame_Del	DEL	GCT	-	-	rs137989738		TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr8:12957611_12957613delGCT	uc003wwm.2	-	8	2677_2679	c.2233_2235delAGC	c.(2233-2235)agcdel	p.S745del	DLC1_uc003wwk.1_In_Frame_Del_p.S308del|DLC1_uc003wwl.1_In_Frame_Del_p.S342del|DLC1_uc011kxx.1_In_Frame_Del_p.S234del	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	745	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.S744T(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCGACTGGCTGCTGCTGCTG	0.621													---	335	---	---	8	---					
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr8:30945377_30945379delAAG	uc003xio.4	+	11	2305_2307	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del	WRN_uc011lbe.1_In_Frame_Del_p.E38del|WRN_uc010lvk.3_5'UTR	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	510	Poly-Glu.				DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.360			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				---	365	---	---	13	---					
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	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													---	1227	---	---	7	---					
STAU2	27067	broad.mit.edu	37	8	74507471	74507471	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr8:74507471delT	uc003xzm.3	-	10	1432	c.1091delA	c.(1090-1092)aatfs	p.N364fs	STAU2_uc011lfh.2_Frame_Shift_Del_p.N260fs|STAU2_uc003xzn.3_Frame_Shift_Del_p.N332fs|STAU2_uc011lfg.2_Frame_Shift_Del_p.N192fs|STAU2_uc003xzo.3_Frame_Shift_Del_p.N364fs|STAU2_uc003xzq.3_Frame_Shift_Del_p.N144fs|STAU2_uc003xzp.3_Frame_Shift_Del_p.N332fs|STAU2_uc011lfi.2_Frame_Shift_Del_p.N326fs|STAU2_uc010lzk.3_Frame_Shift_Del_p.N332fs|STAU2_uc010lzl.1_Frame_Shift_Del_p.N192fs	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.	364	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	p.N332fs*67(1)|p.G364V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTCTGCAGCATTTTTTTTGGC	0.328													---	560	---	---	9	---					
SLC26A7	115111	broad.mit.edu	37	8	92406218	92406218	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr8:92406218delT	uc003yez.3	+	17	2125	c.1886delT	c.(1885-1887)attfs	p.I629fs	SLC26A7_uc003yex.3_Frame_Shift_Del_p.I629fs|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Frame_Shift_Del_p.I629fs	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	629	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GAGAAACCAATTTTTTTTGAA	0.343													---	491	---	---	9	---					
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr8:105440214delT	uc003yly.4	-	5	1215	c.1086delA	c.(1084-1086)aaafs	p.K362fs		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	362					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478													---	1324	---	---	11	---					
ATAD2	29028	broad.mit.edu	37	8	124368685	124368685	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr8:124368685delA	uc003yqh.4	-	12	1698	c.1590delT	c.(1588-1590)tttfs	p.F530fs	ATAD2_uc011lii.2_Frame_Shift_Del_p.F321fs|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Frame_Shift_Del_p.F530fs	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAATTTCGTCAAAAAAAATAA	0.413													---	184	---	---	9	---					
FER1L6	654463	broad.mit.edu	37	8	125080031	125080031	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr8:125080031delA	uc003yqw.3	+	27	3908	c.3702delA	c.(3700-3702)ggafs	p.G1234fs	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1234						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATCCCAAGGGAAAAAAAGGCA	0.388													---	266	---	---	7	---					
EIF2C2	27161	broad.mit.edu	37	8	141554345	141554345	+	Frame_Shift_Del	DEL	G	-	-	rs148575703	byFrequency	TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr8:141554345delG	uc003yvn.3	-	13	1847	c.1806delC	c.(1804-1806)cccfs	p.P602fs	EIF2C2_uc010meo.3_Frame_Shift_Del_p.P602fs|EIF2C2_uc010men.3_Frame_Shift_Del_p.P525fs	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	602	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CATCCCCGGCGGGGGGGTGAG	0.647													---	1025	---	---	9	---					
TSNARE1	203062	broad.mit.edu	37	8	143310866	143310868	+	In_Frame_Del	DEL	GAT	-	-	rs142964918		TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr8:143310866_143310868delGAT	uc003ywj.3	-	11	1561_1563	c.1522_1524delATC	c.(1522-1524)atcdel	p.I508del	TSNARE1_uc011lju.2_In_Frame_Del_p.I506del|TSNARE1_uc003ywk.3_In_Frame_Del_p.I507del	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	507					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGAGGTGGCGATGATGATGATG	0.512													---	467	---	---	13	---					
ZC3H3	23144	broad.mit.edu	37	8	144522387	144522389	+	In_Frame_Del	DEL	GAG	-	-	rs2272753	byFrequency	TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr8:144522387_144522389delGAG	uc003yyd.2	-	10	2666_2668	c.2637_2639delCTC	c.(2635-2640)tcctca>tca	p.879_880SS>S		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	879	Poly-Ser.				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	p.S879F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			Gggaggggatgaggaggaggagg	0.655													---	75	---	---	10	---					
FOXD4	2298	broad.mit.edu	37	9	117406	117407	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr9:117406_117407insG	uc003zfz.3	-	0	1011_1012	c.713_714insC	c.(712-714)ccgfs	p.P238fs		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	238	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTGCGGCGGGGCAGGGGC	0.743													---	281	---	---	8	---					
KIAA1432	57589	broad.mit.edu	37	9	5743708	5743708	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr9:5743708delA	uc003zjl.4	+	9	1257	c.1066delA	c.(1066-1068)aaafs	p.K356fs	KIAA1432_uc003zjh.3_Frame_Shift_Del_p.K277fs|KIAA1432_uc003zji.3_Frame_Shift_Del_p.K277fs|KIAA1432_uc003zjj.1_5'UTR	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	356						integral to membrane		p.G356E(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGATGGCACCAAAAAAGATCC	0.279													---	992	---	---	7	---					
NOL6	65083	broad.mit.edu	37	9	33466939	33466939	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr9:33466939delG	uc003zsz.3	-	14	2022	c.1921delC	c.(1921-1923)ctgfs	p.L641fs	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Frame_Shift_Del_p.L641fs|NOL6_uc010mjv.3_Frame_Shift_Del_p.L638fs|NOL6_uc011lob.2_Frame_Shift_Del_p.L589fs|NOL6_uc003ztb.1_Frame_Shift_Del_p.L641fs	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	641					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGTGCATCCAGGGGGCCCCCC	0.512											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	2053	---	---	7	---					
VCP	7415	broad.mit.edu	37	9	35062983	35062985	+	In_Frame_Del	DEL	AAG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr9:35062983_35062985delAAG	uc003zvy.2	-	6	1190_1192	c.801_803delCTT	c.(799-804)ttcttg>ttg	p.F267del	VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_In_Frame_Del_p.F222del	NM_007126	NP_009057	P55072	TERA_HUMAN	Homo sapiens valosin containing protein (VCP), mRNA.	267					ER-associated protein catabolic process|activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACCATTGATCAAGAAGAAGAAGG	0.463													---	912	---	---	8	---					
FKBP15	23307	broad.mit.edu	37	9	115969556	115969556	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr9:115969556delT	uc004bgs.2	-	2	343	c.190delA	c.(190-192)acafs	p.T64fs	FKBP15_uc010muu.1_Frame_Shift_Del_p.T128fs|FKBP15_uc011lxd.1_5'UTR|FKBP15_uc010mut.1_Intron|FKBP15_uc004bgt.2_Frame_Shift_Del_p.T64fs	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	64					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GCTGGTGCTGTTTTTGGTGTT	0.418													---	1503	---	---	8	---					
DAB2IP	153090	broad.mit.edu	37	9	124522389	124522391	+	In_Frame_Del	DEL	AAG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr9:124522389_124522391delAAG	uc004bln.3	+	5	826_828	c.757_759delAAG	c.(757-759)aagdel	p.K257del	DAB2IP_uc004blo.3_In_Frame_Del_p.K161del	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	285	C2.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGAGACCGACAAGAAGAAGAAGA	0.601													---	421	---	---	18	---					
ENG	2022	broad.mit.edu	37	9	130581107	130581107	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr9:130581107delT	uc004bsj.4	-	10	1729	c.1316delA	c.(1315-1317)aagfs	p.K439fs	ENG_uc011mam.2_Frame_Shift_Del_p.K250fs|ENG_uc004bsk.4_Frame_Shift_Del_p.K439fs|AK057719_uc004bsl.1_Intron	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	Homo sapiens endoglin (ENG), transcript variant 1, mRNA.	439	Ser/Thr-rich.				BMP signaling pathway|artery morphogenesis|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GCAGTGCACCTTTTTCTGGGG	0.637									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				---	1052	---	---	8	---					
CRAT	1384	broad.mit.edu	37	9	131864814	131864814	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr9:131864814delC	uc004bxh.3	-	4	777	c.495delG	c.(493-495)gggfs	p.G165fs	CRAT_uc004bxk.4_Frame_Shift_Del_p.G144fs	NM_000755	NP_000746	P43155	CACP_HUMAN	Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	165					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	ACAGTGGCTTCCCCCCCAGGT	0.607													---	1891	---	---	9	---					
CEL	1056	broad.mit.edu	37	9	135941982	135941982	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr9:135941982delG	uc010naa.1	+	4	629	c.613delG	c.(613-615)gggfs	p.G205fs		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	202					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CGCGGCCTTCGGGGGGGACCC	0.642													---	1024	---	---	9	---					
SURF2	6835	broad.mit.edu	37	9	136226880	136226882	+	In_Frame_Del	DEL	GGA	-	-	rs149969130		TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr9:136226880_136226882delGGA	uc004cdi.2	+	3	440_442	c.392_394delGGA	c.(391-396)cggagg>cgg	p.131_132RR>R		NM_017503	NP_059973	Q15527	SURF2_HUMAN	Homo sapiens surfeit 2 (SURF2), mRNA.	131							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		CTGGTGCACCGGAGGAGGAGGAG	0.635													---	156	---	---	7	---					
GRIN1	2902	broad.mit.edu	37	9	140056884	140056886	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr9:140056884_140056886delGAG	uc004clk.3	+	12	2110_2112	c.1780_1782delGAG	c.(1780-1782)gagdel	p.E598del	GRIN1_uc004cli.1_In_Frame_Del_p.E273del|GRIN1_uc004clj.1_In_Frame_Del_p.E595del|GRIN1_uc004cln.3_In_Frame_Del_p.E619del|GRIN1_uc004clo.3_In_Frame_Del_p.E619del|GRIN1_uc004clm.3_In_Frame_Del_p.E598del|GRIN1_uc004cll.3_In_Frame_Del_p.E598del	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA.	598					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GGTGAACAGCGAGGAGGAGGAGG	0.739													---	219	---	---	12	---					
SFMBT2	57713	broad.mit.edu	37	10	7212995	7212997	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr10:7212995_7212997delCTC	uc009xio.2	-	19	2528_2530	c.2437_2439delGAG	c.(2437-2439)gagdel	p.E813del	SFMBT2_uc001ijn.2_In_Frame_Del_p.E813del|SFMBT2_uc010qay.2_In_Frame_Del_p.E648del	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	813					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GAACCAGTCTCTCCTCCTCCTCC	0.596													---	972	---	---	9	---					
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr10:30316501_30316503delCTG	uc009xle.2	-	2	2711_2713	c.2574_2576delCAG	c.(2572-2577)agcagt>agt	p.858_859SS>S	KIAA1462_uc001iux.3_In_Frame_Del_p.858_859SS>S|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_In_Frame_Del_p.720_721SS>S	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	858	Ser-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571													---	429	---	---	21	---					
ERCC6	2074	broad.mit.edu	37	10	50732139	50732141	+	In_Frame_Del	DEL	CCT	-	-	rs4253047	byFrequency	TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr10:50732139_50732141delCCT	uc001jhs.4	-	4	1489_1491	c.1335_1337delAGG	c.(1333-1338)ggaggt>ggt	p.445_446GG>G	ERCC6_uc001jht.3_5'UTR|ERCC6_uc009xoe.3_In_Frame_Del_p.445_446GG>G|ERCC6_uc001jhu.3_In_Frame_Del_p.445_446GG>G	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	445	Gly-rich.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CACTTTCCGACCTCCTCCTCCTC	0.458								Direct reversal of damage;Nucleotide excision repair (NER)					---	793	---	---	7	---					
ARID5B	84159	broad.mit.edu	37	10	63852298	63852298	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr10:63852298delA	uc001jlt.2	+	9	3532	c.3076delA	c.(3076-3078)aaafs	p.K1026fs	ARID5B_uc001jlu.2_Frame_Shift_Del_p.K783fs	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	1026					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	p.G1025R(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GATTGCAGGGAAAAAGGCCCG	0.607													---	699	---	---	8	---					
SPOCK2	9806	broad.mit.edu	37	10	73822559	73822561	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr10:73822559_73822561delCCT	uc001jso.2	-	10	1677_1679	c.1232_1234delAGG	c.(1231-1236)gagggc>ggc	p.E411del	ANAPC16_uc021psn.1_Intron|SPOCK2_uc001jsp.3_In_Frame_Del_p.E411del	NM_001244950	NP_001231879	Q92563	TICN2_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 (SPOCK2), transcript variant 3, mRNA.	411	Glu-rich.				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCTGCCTCGCcctcctcctcctc	0.670													---	187	---	---	7	---					
SLIT1	6585	broad.mit.edu	37	10	98778793	98778794	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr10:98778793_98778794insG	uc001kmw.2	-	26	3069_3070	c.2817_2818insC	c.(2815-2820)acctgcfs	p.T939fs		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	939	EGF-like 1.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCGTTGTGGCAGGTGCCCTGGT	0.639													---	353	---	---	8	---					
ABCC2	1244	broad.mit.edu	37	10	101559000	101559000	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr10:101559000delA	uc001kqf.2	+	7	1043	c.904delA	c.(904-906)aaafs	p.K302fs		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	302						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTCTGGGACCAAAAAAGATGT	0.403													---	1015	---	---	8	---					
SCD	6319	broad.mit.edu	37	10	102107836	102107838	+	In_Frame_Del	DEL	ACC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr10:102107836_102107838delACC	uc001kqy.3	+	1	533_535	c.43_45delACC	c.(43-45)accdel	p.T19del		NM_005063	NP_005054	O00767	ACOD_HUMAN	Homo sapiens stearoyl-CoA desaturase (delta-9-desaturase) (SCD), mRNA.	19					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TAGCTCCTATACCACCACCACCA	0.581													---	826	---	---	12	---					
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr10:103919000_103919002delAGC	uc001kup.2	+	5	893_895	c.658_660delAGC	c.(658-660)agcdel	p.S227del	NOLC1_uc001kuo.2_In_Frame_Del_p.S227del|NOLC1_uc001kuq.2_In_Frame_Del_p.S228del|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_5'UTR	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA.	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	p.S226N(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		tagcagcagtagcagcagcagca	0.517													---	662	---	---	13	---					
TACC2	10579	broad.mit.edu	37	10	123970380	123970380	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr10:123970380delC	uc001lfv.3	+	8	6800	c.6440delC	c.(6439-6441)accfs	p.T2147fs	TACC2_uc001lfw.3_Frame_Shift_Del_p.T293fs|TACC2_uc009xzx.3_Frame_Shift_Del_p.T2102fs|TACC2_uc010qtv.2_Frame_Shift_Del_p.T2151fs|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Frame_Shift_Del_p.T225fs|TACC2_uc001lga.3_Frame_Shift_Del_p.T225fs|TACC2_uc009xzy.3_Frame_Shift_Del_p.T225fs|TACC2_uc001lgb.3_Frame_Shift_Del_p.T182fs|TACC2_uc010qtw.1_Frame_Shift_Del_p.T242fs	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2147						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCCACAGAGACCCCCCCAGTG	0.522													---	1064	---	---	11	---					
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr11:281553_281555delGAG	uc010qvs.2	+	3	1819_1821	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_uc010qvt.2_In_Frame_Del_p.E611del	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.670													---	655	---	---	22	---					
IFITM1	8519	broad.mit.edu	37	11	314210	314210	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr11:314210delC	uc001loy.4	+	0	220	c.40delC	c.(40-42)cccfs	p.P14fs		NM_003641	NP_003632	P13164	IFM1_HUMAN	Homo sapiens interferon induced transmembrane protein 1 (9-27) (IFITM1), mRNA.	14					negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCTGGGGCCACCCCCCAGCAC	0.562													---	502	---	---	7	---					
TSPAN4	7106	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	-	-	rs61867552	byFrequency	TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr11:864443_864445delCTG	uc001lsd.1	+	4	471_473	c.262_264delCTG	c.(262-264)ctgdel	p.L92del	TSPAN4_uc001lse.1_In_Frame_Del_p.L28del|TSPAN4_uc001lsf.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsg.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsh.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsi.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsj.1_In_Frame_Del_p.L92del	NM_003271	NP_001020410	O14817	TSN4_HUMAN	Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA.	92					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.650													---	628	---	---	32	---					
AP2A2	161	broad.mit.edu	37	11	970195	970195	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr11:970195delA	uc001lst.2	+	2	376	c.163delA	c.(163-165)aaafs	p.K55fs	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Frame_Shift_Del_p.K55fs|AP2A2_uc001lsu.1_5'Flank	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	55	Lipid-binding.				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	p.K57fs*24(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGCTATAGTAAAAAAAAGTA	0.488													---	685	---	---	8	---					
APBB1	322	broad.mit.edu	37	11	6432090	6432092	+	In_Frame_Del	DEL	TCC	-	-	rs145320037		TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr11:6432090_6432092delTCC	uc001mdb.1	-	1	586_588	c.486_488delGGA	c.(484-489)gaggat>gat	p.E162del	APBB1_uc001mdc.1_In_Frame_Del_p.E162del|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	162	Glu-rich.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.E162D(2)|p.E162K(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		atcatcatcatcctcctcctcct	0.635													---	197	---	---	12	---					
OR10A2	341276	broad.mit.edu	37	11	6891253	6891255	+	In_Frame_Del	DEL	TTC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr11:6891253_6891255delTTC	uc001meu.1	+	0	268_270	c.268_270delTTC	c.(268-270)ttcdel	p.F94del		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGATGTATTTCTTCTTCTTCT	0.517													---	821	---	---	11	---					
CALCA	796	broad.mit.edu	37	11	14991489	14991490	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr11:14991489_14991490delCT	uc001mlv.1	-	2	269_270	c.218_219delAG	c.(217-219)gagfs	p.E73fs	CALCA_uc001mlt.2_Frame_Shift_Del_p.E73fs|CALCA_uc001mlu.2_Non-coding_Transcript|CALCA_uc001mlw.1_Frame_Shift_Del_p.E73fs	NM_001741	NP_001732	P06881	CALCA_HUMAN	Homo sapiens calcitonin-related polypeptide alpha (CALCA), transcript variant 1, mRNA.	73					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	ACCTGGAGCCCTCTCTCTCTTG	0.624											OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	545	---	---	9	---					
NAV2	89797	broad.mit.edu	37	11	19901475	19901477	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr11:19901475_19901477delAGC	uc010rdm.2	+	4	933_935	c.572_574delAGC	c.(571-576)aagcag>aag	p.Q196del	NAV2_uc001mpp.3_In_Frame_Del_p.Q132del|NAV2_uc001mpr.4_In_Frame_Del_p.Q196del|NAV2_uc021qew.1_In_Frame_Del_p.Q196del	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	196	Gln-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCCGATACAagcagcagcagca	0.611													---	451	---	---	8	---					
CCDC73	493860	broad.mit.edu	37	11	32635951	32635951	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr11:32635951delT	uc001mtv.3	-	15	1957	c.1913delA	c.(1912-1914)aatfs	p.N638fs		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	638								p.N638fs*18(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TGGAACAGGATTTTTTTTTAT	0.313													---	193	---	---	9	---					
MYBPC3	4607	broad.mit.edu	37	11	47359101	47359103	+	In_Frame_Del	DEL	TCT	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr11:47359101_47359103delTCT	uc021qis.1	-	24	2496_2498	c.2441_2443delAGA	c.(2440-2445)aagagc>agc	p.K814del	MYBPC3_uc021qir.1_In_Frame_Del_p.K466del|MYBPC3_uc010rhl.2_Intron	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	813	Fibronectin type-III 1.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CACCGGTAGCTCTTCTTCTTCTT	0.601													---	347	---	---	10	---					
SLC43A3	29015	broad.mit.edu	37	11	57156679	57156681	+	In_Frame_Del	DEL	TCT	-	-	rs77900153	byFrequency	TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr11:57156679_57156681delTCT	uc001nkc.3	-	2	242_244	c.168_170delAGA	c.(166-171)gaagag>gag	p.56_57EE>E	SLC43A3_uc001nkd.3_In_Frame_Del_p.56_57EE>E|SLC43A3_uc001nke.3_In_Frame_Del_p.336_337EE>E	NM_002728	NP_002719	Q8NBI5	S43A3_HUMAN	Homo sapiens proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) (PRG2), transcript variant 1, mRNA.	248					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CCACTCCTCCTCTTCCTCCAGCT	0.547													---	601	---	---	10	---					
FADS2	9415	broad.mit.edu	37	11	61607885	61607887	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr11:61607885_61607887delTCC	uc001nsl.1	+	2	548_550	c.398_400delTCC	c.(397-402)ttcctc>ttc	p.L137del	FADS2_uc001nsj.2_In_Frame_Del_p.L115del|FADS2_uc010rlo.1_In_Frame_Del_p.L106del|FADS2_uc001nsk.3_In_Frame_Del_p.L137del	NM_004265	NP_004256	O95864	FADS2_HUMAN	Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	137				LLLL -> RTRG (in Ref. 8; CAB43280).	electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CACGTGTTCTTCCTCCTCCTCCT	0.537													---	1070	---	---	7	---					
SLC3A2	6520	broad.mit.edu	37	11	62649528	62649529	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr11:62649528_62649529insA	uc001nwd.3	+	4	1149_1150	c.891_892insA	c.(889-894)gctaaafs	p.A297fs	SLC3A2_uc001nwc.3_Frame_Shift_Ins_p.A298fs|SLC3A2_uc001nwf.3_Frame_Shift_Ins_p.A235fs|SLC3A2_uc001nwg.3_Frame_Shift_Ins_p.A196fs|SLC3A2_uc010rml.1_5'Flank	NM_002394	NP_001013269	P08195	4F2_HUMAN	Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 (SLC3A2), transcript variant 3, mRNA.	297					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	p.K331fs*31(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TGCAATCGGCTAAAAAAAAGAG	0.460													---	447	---	---	10	---					
PCNXL3	399909	broad.mit.edu	37	11	65404248	65404259	+	In_Frame_Del	DEL	CCTCAGCCTCAG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr11:65404248_65404259delCCTCAGCCTCAG	uc001oey.2	+	34	5904_5915	c.5904_5915delCCTCAGCCTCAG	c.(5902-5916)gacctcagcctcagc>gac	p.LSLS1973del	PCNXL3_uc001oez.2_In_Frame_Del_p.LSLS860del	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1973						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CGCCTCTAGAcctcagcctcagcctcagcctc	0.646													---	4	---	---	2	---					
POLD3	10714	broad.mit.edu	37	11	74336608	74336609	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr11:74336608_74336609insA	uc001ovf.1	+	7	964_965	c.889_890insA	c.(889-891)gaafs	p.E297fs	POLD3_uc009yua.1_Frame_Shift_Ins_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)					GCTGCAGAAGGAAAAAAAAAGG	0.460													---	157	---	---	8	---					
UVRAG	7405	broad.mit.edu	37	11	75694430	75694431	+	Splice_Site	INS	-	A	A			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr11:75694430_75694431insA	uc001oxc.3	+	8	941	c.700_splice	c.e8-1	p.K234_splice	UVRAG_uc010rrw.2_Splice_Site_p.K133_splice|UVRAG_uc001oxd.3_Splice_Site|UVRAG_uc010rrx.2_Splice_Site|UVRAG_uc009yuh.1_Splice_Site	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	234					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TATTTATTTAGAAAAAAAAAAG	0.302													---	214	---	---	18	---					
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	Splice_Site	INS	-	T	T	rs33924686	by1000genomes	TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr11:102738795_102738796insT	uc001phk.3	-	5	727	c.630_splice	c.e5+1	p.T210_splice		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	210					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													---	55	---	---	11	---					
DDX10	1662	broad.mit.edu	37	11	108559769	108559769	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr11:108559769delT	uc001pkm.3	+	6	1020	c.955delT	c.(955-957)tttfs	p.F319fs	DDX10_uc001pkl.1_Frame_Shift_Del_p.F319fs	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	319	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GAGCATTGTATTTTTTTCCAG	0.353			T	NUP98	AML*								---	1571	---	---	8	---					
IFT46	56912	broad.mit.edu	37	11	118427683	118427685	+	In_Frame_Del	DEL	ATC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr11:118427683_118427685delATC	uc001pto.2	-	4	693_695	c.274_276delGAT	c.(274-276)gatdel	p.D92del	IFT46_uc001ptp.2_In_Frame_Del_p.D41del	NM_020153	NP_064538	Q9NQC8	IFT46_HUMAN	Homo sapiens intraflagellar transport 46 homolog (Chlamydomonas) (IFT46), transcript variant 1, mRNA.	41					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TTTCAGATGAatcatcatcatca	0.478													---	489	---	---	12	---					
BCL9L	283149	broad.mit.edu	37	11	118770651	118770652	+	Frame_Shift_Ins	INS	-	G	G	rs139987150		TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr11:118770651_118770652insG	uc001pug.3	-	6	4345_4346	c.3380_3381insC	c.(3379-3381)ccafs	p.P1127fs	BCL9L_uc009zal.3_Frame_Shift_Ins_p.P1122fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1127	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCGGTGGTGGTGGGGGGGGCAG	0.703													---	206	---	---	7	---					
CBL	867	broad.mit.edu	37	11	119149356	119149358	+	In_Frame_Del	DEL	ATG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr11:119149356_119149358delATG	uc001pwe.3	+	8	1502_1504	c.1364_1366delATG	c.(1363-1368)tatgat>tat	p.D460del		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	460	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_K477del(2)|p.D460del(1)|p.K322_D460del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCCAAATTATGATGATGATGA	0.473			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				---	398	---	---	11	---					
PVRL1	5818	broad.mit.edu	37	11	119535678	119535680	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr11:119535678_119535680delCCT	uc001pwv.3	-	5	1503_1505	c.1331_1333delAGG	c.(1330-1335)gagggc>ggc	p.E444del	PVRL1_uc001pwu.1_Intron	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA.	444	Poly-Glu.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.E444fs*>73(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTCCACCGCcctcctcctcctc	0.660													---	179	---	---	11	---					
NFRKB	4798	broad.mit.edu	37	11	129752495	129752496	+	Frame_Shift_Ins	INS	-	T	T	rs149369172		TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr11:129752495_129752496insT	uc001qfg.3	-	7	1128_1129	c.1007_1008insA	c.(1006-1008)aagfs	p.K336fs	NFRKB_uc001qfi.3_Frame_Shift_Ins_p.K311fs|NFRKB_uc001qfh.3_Frame_Shift_Ins_p.K334fs|NFRKB_uc010sbw.1_Frame_Shift_Ins_p.K323fs	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	311					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)		TTTCCTTAACCTTTTTTTTAAG	0.441													---	408	---	---	8	---					
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr12:6711207_6711209delCTT	uc001qpo.3	-	3	519_521	c.355_357delAAG	c.(355-357)aagdel	p.K119del	CHD4_uc001qpn.3_In_Frame_Del_p.K112del|CHD4_uc001qpp.3_In_Frame_Del_p.K116del	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	119	Poly-Lys.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.K119delK(3)		central_nervous_system(2)	2						TAGGTCCAAGCTTCTTCTTCTTC	0.537													---	210	---	---	9	---					
LRRC23	10233	broad.mit.edu	37	12	7015019	7015019	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr12:7015019delC	uc001qrt.4	+	2	529	c.137delC	c.(136-138)accfs	p.T46fs	LRRC23_uc009zfg.2_Intron|LRRC23_uc001qrp.3_Frame_Shift_Del_p.T46fs|LRRC23_uc001qrq.3_Frame_Shift_Del_p.T46fs|LRRC23_uc001qrs.3_Intron|LRRC23_uc009zfh.3_Frame_Shift_Del_p.T46fs	NM_001135217	NP_964013	Q53EV4	LRC23_HUMAN	Homo sapiens leucine rich repeat containing 23 (LRRC23), transcript variant 3, mRNA.	46										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						TGGCTGCCCACCCCCCTCACG	0.572													---	410	---	---	7	---					
DDX12P	440081	broad.mit.edu	37	12	9573305	9573305	+	RNA	DEL	G	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr12:9573305delG	uc021qut.1	-	10		c.2093delC			DDX12P_uc001qvx.4_Intron|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		gagggagggagggagCCCCCA	0.582													---	141	---	---	14	---					
KLHDC5	57542	broad.mit.edu	37	12	27950769	27950769	+	Frame_Shift_Del	DEL	G	-	-	rs145908611	byFrequency	TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr12:27950769delG	uc001rij.3	+	2	1265	c.1188delG	c.(1186-1188)gtgfs	p.V396fs		NM_020782	NP_065833	Q9P2K6	KLDC5_HUMAN	Homo sapiens kelch domain containing 5 (KLHDC5), mRNA.	396										breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|urinary_tract(1)	23	Lung SC(9;0.0873)					TCTACATCGTGGGGGGGTGTC	0.592													---	749	---	---	9	---					
SCAF11	9169	broad.mit.edu	37	12	46318575	46318577	+	In_Frame_Del	DEL	GGT	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr12:46318575_46318577delGGT	uc001rox.3	-	11	4127_4129	c.3840_3842delACC	c.(3838-3843)ccaccc>ccc	p.1280_1281PP>P	SCAF11_uc001row.3_In_Frame_Del_p.965_966PP>P	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	1280	Pro-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGGGGGAGGGGGTGGTGGTGGTG	0.483													---	757	---	---	8	---					
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr12:55615114_55615116delCTT	uc010spf.2	+	0	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414													---	1014	---	---	14	---					
OR6C65	403282	broad.mit.edu	37	12	55794610	55794610	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr12:55794610delT	uc010spl.2	+	0	298	c.298delT	c.(298-300)tttfs	p.F100fs		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L102fs*1(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGCCCAAGTATTTTTTTTAAT	0.358													---	571	---	---	7	---					
SMARCC2	6601	broad.mit.edu	37	12	56558379	56558381	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr12:56558379_56558381delAGG	uc001skb.3	-	26	3380_3382	c.3274_3276delCCT	c.(3274-3276)cctdel	p.P1092del	SMARCC2_uc001skd.3_Intron|SMARCC2_uc001ska.3_Intron|SMARCC2_uc001skc.3_Intron|SMARCC2_uc010sqf.2_Intron	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	1092	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGATGGAGCAGGAGGAGGAGGA	0.591													---	216	---	---	10	---					
MARS	4141	broad.mit.edu	37	12	57883053	57883053	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr12:57883053delT	uc001sog.3	+	2	358	c.204delT	c.(202-204)tatfs	p.Y68fs	ARHGAP9_uc001sod.3_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Intron|MARS_uc010srq.1_5'UTR	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	68					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGGGCAGATATTTTTTTTTGT	0.488													---	345	---	---	10	---					
B4GALNT1	2583	broad.mit.edu	37	12	58025102	58025103	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr12:58025102_58025103insC	uc001spg.1	-	2	695_696	c.263_264insG	c.(262-264)ggcfs	p.G88fs	B4GALNT1_uc010sru.2_Intron|B4GALNT1_uc010srv.2_Frame_Shift_Ins_p.G88fs|B4GALNT1_uc001spi.3_Frame_Shift_Ins_p.G88fs|B4GALNT1_uc010srw.1_Frame_Shift_Ins_p.G165fs	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	88					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.G88fs*24(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589													---	698	---	---	14	---					
TMPO	7112	broad.mit.edu	37	12	98921671	98921672	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr12:98921671_98921672insA	uc001tfh.2	+	1	582_583	c.287_288insA	c.(286-288)acafs	p.T96fs	TMPO_uc001tfi.2_Frame_Shift_Ins_p.T96fs|TMPO_uc001tfl.3_Non-coding_Transcript|TMPO_uc001tfj.3_Frame_Shift_Ins_p.T96fs|TMPO_uc001tfk.3_Frame_Shift_Ins_p.T96fs	NM_003276	NP_003267	P42167	LAP2B_HUMAN	Homo sapiens thymopoietin (TMPO), transcript variant 1, mRNA.	96	Linker.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGAAAGCCACAAAAAAAACTG	0.332													---	474	---	---	10	---					
CHPT1	56994	broad.mit.edu	37	12	102108337	102108338	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr12:102108337_102108338insT	uc001tin.3	+	2	700_701	c.477_478insT	c.(475-480)tggtttfs	p.W159fs	CHPT1_uc001tio.3_Non-coding_Transcript|CHPT1_uc001tip.1_Frame_Shift_Ins_p.W159fs	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN	Homo sapiens choline phosphotransferase 1 (CHPT1), mRNA.	159					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						ATCCTGACTGGTTTTTTTTCTG	0.342													---	287	---	---	7	---					
HVCN1	84329	broad.mit.edu	37	12	111099110	111099112	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr12:111099110_111099112delCTC	uc001trs.1	-	3	328_330	c.163_165delGAG	c.(163-165)gagdel	p.E55del	HVCN1_uc001trq.1_In_Frame_Del_p.E55del|HVCN1_uc001trt.1_In_Frame_Del_p.E55del|HVCN1_uc010syd.1_In_Frame_Del_p.E35del	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	55	Poly-Glu.				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GTGGTGGCTGctcctcctcctcc	0.606													---	289	---	---	8	---					
CUX2	23316	broad.mit.edu	37	12	111758235	111758237	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr12:111758235_111758237delTCC	uc001tsa.2	+	16	2576_2578	c.2422_2424delTCC	c.(2422-2424)tccdel	p.S813del		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	813	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCCTCGCTGTCCTCCTCCTCCT	0.749													---	262	---	---	9	---					
POP5	51367	broad.mit.edu	37	12	121017154	121017156	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr12:121017154_121017156delCTC	uc001tys.3	-	4	493_495	c.457_459delGAG	c.(457-459)gagdel	p.E153del	POP5_uc001tyt.3_In_Frame_Del_p.E103del	NM_015918	NP_057002	Q969H6	POP5_HUMAN	Homo sapiens processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) (POP5), transcript variant 1, mRNA.	153					tRNA processing		protein binding|ribonuclease P activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517													---	761	---	---	10	---					
NCOR2	9612	broad.mit.edu	37	12	124848228	124848228	+	Frame_Shift_Del	DEL	G	-	-	rs12321697		TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr12:124848228delG	uc021rga.1	-	20	3042	c.2925delC	c.(2923-2925)cccfs	p.P975fs	NCOR2_uc021rgb.1_Frame_Shift_Del_p.P958fs|NCOR2_uc010tbb.2_Frame_Shift_Del_p.P975fs|NCOR2_uc010tbc.2_Frame_Shift_Del_p.P957fs|NCOR2_uc021rgc.1_Frame_Shift_Del_p.P957fs|NCOR2_uc010tba.2_Frame_Shift_Del_p.P975fs|NCOR2_uc001ugj.1_Frame_Shift_Del_p.P975fs	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	975					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CACTCACGATGGGGGGGATGG	0.652													---	1023	---	---	8	---					
HSPH1	10808	broad.mit.edu	37	13	31715381	31715382	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr13:31715381_31715382insT	uc001utl.3	-	12	2008_2009	c.1737_1738insA	c.(1735-1740)aaagttfs	p.K579fs	HSPH1_uc001utj.3_Frame_Shift_Ins_p.K577fs|HSPH1_uc001utk.3_Frame_Shift_Ins_p.K533fs|HSPH1_uc010aaw.3_Frame_Shift_Ins_p.K536fs|HSPH1_uc010tds.2_Frame_Shift_Ins_p.K501fs	NM_006644	NP_006635	Q92598	HS105_HUMAN	Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.	577					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GGCTGGTCAACTTTTTTTTCAT	0.376													---	434	---	---	9	---					
ZC3H13	23091	broad.mit.edu	37	13	46549613	46549614	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr13:46549613_46549614delCT	uc010tfw.1	-	10	2278_2279	c.2272_2273delAG	c.(2272-2274)aggfs	p.R758fs	ZC3H13_uc001vas.1_Frame_Shift_Del_p.R758fs|ZC3H13_uc001vat.1_Frame_Shift_Del_p.R758fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	758	Arg/Glu-rich.						nucleic acid binding|zinc ion binding	p.R758fs*104(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ctctctctccctctctctctct	0.530													---	181	---	---	7	---					
LRCH1	23143	broad.mit.edu	37	13	47243183	47243186	+	Frame_Shift_Del	DEL	CCTG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr13:47243183_47243186delCCTG	uc001vbk.3	+	2	707_710	c.471_474delCCTG	c.(469-474)gccctgfs	p.A157fs	LRCH1_uc010acp.2_Frame_Shift_Del_p.A157fs|LRCH1_uc001vbj.3_Frame_Shift_Del_p.A157fs|LRCH1_uc001vbl.4_Frame_Shift_Del_p.A157fs	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA.	157										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AGCTGTCCGCCCTGCCTGCCTGCC	0.436													---	954	---	---	7	---					
ABCC4	10257	broad.mit.edu	37	13	95696016	95696016	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr13:95696016delT	uc001vmd.4	-	28	3774	c.3655delA	c.(3655-3657)atcfs	p.I1219fs	ABCC4_uc010afj.3_Intron|ABCC4_uc010afk.3_Frame_Shift_Del_p.I1172fs	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	1219	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTCTCCCGGATTTTTTTTTGT	0.378													---	494	---	---	18	---					
TEP1	7011	broad.mit.edu	37	14	20852647	20852647	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr14:20852647delC	uc001vxe.3	-	22	3282	c.3242delG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_uc010ahk.3_Frame_Shift_Del_p.G431fs|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Frame_Shift_Del_p.G973fs|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1081					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGCTGCCACACCCCCCCACTC	0.587													---	1313	---	---	7	---					
LTB4R	1241	broad.mit.edu	37	14	24785074	24785074	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr14:24785074delT	uc001wou.3	+	1	549	c.217delT	c.(217-219)tttfs	p.F73fs	LTB4R_uc001wos.3_Frame_Shift_Del_p.F73fs|LTB4R_uc010alp.3_Frame_Shift_Del_p.F73fs|LTB4R_uc021rrq.1_Frame_Shift_Del_p.F73fs	NM_181657	NP_858043	Q15722	LT4R1_HUMAN	Homo sapiens leukotriene B4 receptor (LTB4R), transcript variant 1, mRNA.	73					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CACTGCTCCCTTTTTCCTTCA	0.582													---	798	---	---	7	---					
MGAT2	4247	broad.mit.edu	37	14	50088320	50088321	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr14:50088320_50088321insC	uc001wwr.3	+	0	832_833	c.334_335insC	c.(334-336)accfs	p.T112fs	NEMF_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank|RPL36AL_uc021rsq.1_5'Flank	NM_002408	NP_002399	Q10469	MGAT2_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (MGAT2), mRNA.	112					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TAAGGCTGGCACCTGGGCCCCC	0.614													---	830	---	---	12	---					
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	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													---	129	---	---	8	---					
VRTN	55237	broad.mit.edu	37	14	74824462	74824463	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr14:74824462_74824463insG	uc021rwl.1	+	0	976_977	c.976_977insG	c.(976-978)cggfs	p.R326fs	VRTN_uc001xpw.4_Frame_Shift_Ins_p.R326fs	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	326					transposition, DNA-mediated		DNA binding|transposase activity	p.R326R(1)|p.V329fs*25(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CAGCTTCCACCGGGGGGGCGTC	0.644													---	643	---	---	7	---					
DDX24	57062	broad.mit.edu	37	14	94545821	94545823	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr14:94545821_94545823delCCT	uc001ycj.3	-	1	365_367	c.266_268delAGG	c.(265-270)gaggga>gga	p.E89del	DDX24_uc010twq.2_In_Frame_Del_p.E46del|DDX24_uc010twr.2_Intron|IFI27L1_uc001ycl.3_5'Flank|IFI27L1_uc001yck.3_5'Flank	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	89	Poly-Glu.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTAGACTTTCCCTCCTCCTCCTC	0.443													---	731	---	---	11	---					
C14orf49	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr14:95921888_95921890delCTC	uc001yei.4	-	4	976_978	c.961_963delGAG	c.(961-963)gagdel	p.E321del	C14orf49_uc010avi.3_In_Frame_Del_p.E321del|C14orf49_uc001yej.1_In_Frame_Del_p.E321del	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	321					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CCCGCAGCCGCTCCTCCTCCTCC	0.616													---	605	---	---	7	---					
HSP90AA1	3320	broad.mit.edu	37	14	102551161	102551163	+	In_Frame_Del	DEL	TCT	-	-	rs55793809	byFrequency	TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr14:102551161_102551163delTCT	uc001yku.4	-	4	1026_1028	c.836_838delAGA	c.(835-840)aagatt>att	p.K279del	HSP90AA1_uc001ykv.4_In_Frame_Del_p.K401del|HSP90AA1_uc001ykw.1_In_Frame_Del_p.K100del|HSP90AA1_uc001ykx.1_In_Frame_Del_p.K268del	NM_005348	NP_005339	P07900	HS90A_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 2, mRNA.	279					G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	ttttccttaatcttcttcttctt	0.389													---	222	---	---	7	---					
abParts	0	broad.mit.edu	37	14	106691799	106691801	+	RNA	DEL	ACT	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr14:106691799_106691801delACT	uc021ser.1	-	1156		c.25192_25194delAGT								Parts of antibodies, mostly variable regions.																		AGTATATGTAACTACTACTACTA	0.517													---	1325	---	---	8	---					
C15orf24	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr15:34393991_34393993delAGC	uc001zhm.3	-	0	61_63	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_uc001zho.3_5'Flank	NM_020154	NP_064539	Q9NPA0	CO024_HUMAN	Homo sapiens chromosome 15 open reading frame 24 (C15orf24), mRNA.	16						cytoplasm|integral to membrane	carbohydrate binding|carboxypeptidase activity|purine nucleotide binding			large_intestine(1)|lung(5)|skin(1)	7		all_lung(180;1.76e-08)		all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)		ATCCCCCGATAGCAGCAGCAGCA	0.665													---	816	---	---	13	---					
EIF2AK4	440275	broad.mit.edu	37	15	40282508	40282508	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr15:40282508delT	uc001zkm.1	+	15	2611	c.2561delT	c.(2560-2562)attfs	p.I854fs	EIF2AK4_uc010bbj.1_Frame_Shift_Del_p.I555fs|EIF2AK4_uc001zkn.1_5'Flank	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	854	Protein kinase 2.				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCTGTCAACATTTTTTTGGAT	0.358													---	1511	---	---	9	---					
TTBK2	146057	broad.mit.edu	37	15	43038023	43038024	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr15:43038023_43038024insT	uc001zqo.2	-	14	4143_4144	c.3704_3705insA	c.(3703-3705)aagfs	p.K1235fs	TTBK2_uc010bcy.2_Frame_Shift_Ins_p.K1166fs|DQ586540_uc001zqn.2_5'Flank	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	1235					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTGGCTTACTCTTCCCTTGGGG	0.535													---	1004	---	---	12	---					
TTBK2	146057	broad.mit.edu	37	15	43038025	43038026	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr15:43038025_43038026insC	uc001zqo.2	-	14	4141_4142	c.3702_3703insG	c.(3700-3705)gggaagfs	p.G1234fs	TTBK2_uc010bcy.2_Frame_Shift_Ins_p.G1165fs|DQ586540_uc001zqn.2_5'Flank	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	1234					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GGCTTACTCTTCCCTTGGGGGG	0.540													---	1016	---	---	22	---					
SPG11	80208	broad.mit.edu	37	15	44907750	44907750	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr15:44907750delA	uc001ztx.3	-	15	2880	c.2849delT	c.(2848-2850)ttgfs	p.L950fs	SPG11_uc010ueh.2_Frame_Shift_Del_p.L950fs|SPG11_uc010uei.2_Frame_Shift_Del_p.L950fs|SPG11_uc001ztz.1_Frame_Shift_Del_p.L109fs	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	950					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTCAGATGCCAAAAAAACCCC	0.403													---	341	---	---	10	---					
WDR72	256764	broad.mit.edu	37	15	53992038	53992038	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr15:53992038delA	uc002acj.2	-	12	1716	c.1674delT	c.(1672-1674)tttfs	p.F558fs	WDR72_uc010bfi.1_Frame_Shift_Del_p.F558fs	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	558										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCCTCACAGGAAAAAGGTGCT	0.463													---	1110	---	---	7	---					
SLTM	79811	broad.mit.edu	37	15	59186041	59186041	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr15:59186041delT	uc002afp.3	-	11	1715	c.1627delA	c.(1627-1629)agtfs	p.S543fs	SLTM_uc002afn.3_Intron|SLTM_uc002afo.3_Frame_Shift_Del_p.S525fs|SLTM_uc002afq.3_Frame_Shift_Del_p.S112fs|SLTM_uc010bgd.3_Frame_Shift_Del_p.S112fs	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	543					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						TTTTCTTCACTTTTTTTAATC	0.313													---	614	---	---	7	---					
SLC24A1	9187	broad.mit.edu	37	15	65943128	65943130	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr15:65943128_65943130delGAG	uc010ujf.2	+	6	2928_2930	c.2641_2643delGAG	c.(2641-2643)gagdel	p.E890del	SLC24A1_uc010ujd.1_In_Frame_Del_p.E872del|SLC24A1_uc010uje.1_In_Frame_Del_p.E872del|SLC24A1_uc010ujg.2_In_Frame_Del_p.E890del|SLC24A1_uc010ujh.2_In_Frame_Del_p.E872del|SLC24A1_uc010uji.2_In_Frame_Del_p.E217del	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	890	Poly-Glu.				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						gcaggaggaagaggaggaggagg	0.562													---	150	---	---	10	---					
GOLGA6L5	374650	broad.mit.edu	37	15	85055754	85055756	+	RNA	DEL	CTC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr15:85055754_85055756delCTC	uc002bkm.2	-	5		c.804_806delGAG								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		CACGTAGCCTCTCCTCCTGTTCA	0.547													---	126	---	---	14	---					
CHD2	1106	broad.mit.edu	37	15	93540315	93540316	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr15:93540315_93540316insA	uc002bsp.3	+	28	4299_4300	c.3724_3725insA	c.(3724-3726)gaafs	p.E1242fs	CHD2_uc002bso.1_Frame_Shift_Ins_p.E1242fs	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1242					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGACCCTGAAGAAAAAAAAAAG	0.347													---	425	---	---	24	---					
CREBBP	1387	broad.mit.edu	37	16	3817721	3817721	+	Splice_Site	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr16:3817721delT	uc002cvv.3	-	16	3454	c.3250_splice	c.e16+1	p.I1084_splice	CREBBP_uc002cvw.3_Splice_Site_p.I1046_splice	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1084					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AATGGCCTACTTTTTTTGCGC	0.398			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						---	586	---	---	7	---					
NTAN1	123803	broad.mit.edu	37	16	15131931	15131931	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr16:15131931delT	uc002ddd.3	-	9	895	c.890delA	c.(889-891)aatfs	p.N297fs	PDXDC1_uc002ddc.3_Intron|NTAN1_uc010uzo.2_Frame_Shift_Del_p.N192fs	NM_173474	NP_775745	Q96AB6	NTAN1_HUMAN	Homo sapiens N-terminal asparagine amidase (NTAN1), mRNA.	297						cytoplasm				endometrium(1)|large_intestine(4)|lung(3)	8						GCCATCTTCATTTTTTTTGTA	0.383													---	641	---	---	10	---					
C16orf62	57020	broad.mit.edu	37	16	19580800	19580802	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr16:19580800_19580802delTCC	uc002dgn.2	+	2	487_489	c.172_174delTCC	c.(172-174)tccdel	p.S64del	C16orf62_uc002dgo.2_In_Frame_Del_p.S153del|C16orf62_uc010vas.2_Non-coding_Transcript|C16orf62_uc002dgm.2_In_Frame_Del_p.S153del	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	64	Ser-rich.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TTCTTCCACGTCCTCCTCCTCCT	0.562													---	348	---	---	14	---					
EIF3C	8663	broad.mit.edu	37	16	28734579	28734581	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr16:28734579_28734581delGAG	uc010byj.3	+	8	960_962	c.871_873delGAG	c.(871-873)gagdel	p.E294del	NPIPL1_uc010vct.2_Intron|EIF3C_uc010byi.3_In_Frame_Del_p.E294del|EIF3C_uc002dqs.4_In_Frame_Del_p.E294del|EIF3C_uc002dqt.4_In_Frame_Del_p.E294del|EIF3C_uc010vcy.2_In_Frame_Del_p.E284del|EIF3C_uc002dqu.4_In_Frame_Del_p.E294del|EIF3C_uc002dqv.4_In_Frame_Del_p.E40del	NM_001099661	NP_003743	Q99613	EIF3C_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit C-like (EIF3CL), mRNA.	294	Poly-Glu.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(5)|skin(1)	6						GCGCCTGGATGAGGAGGAGGAGG	0.562													---	3588	---	---	10	---					
TAOK2	9344	broad.mit.edu	37	16	29994531	29994533	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr16:29994531_29994533delGAG	uc010bzm.2	+	10	1194_1196	c.1159_1161delGAG	c.(1159-1161)gagdel	p.E399del	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_In_Frame_Del_p.E392del|TAOK2_uc021tgf.1_In_Frame_Del_p.E392del|TAOK2_uc002dva.2_In_Frame_Del_p.E392del|TAOK2_uc002dvc.2_In_Frame_Del_p.E392del|TAOK2_uc002dvd.2_In_Frame_Del_p.E219del	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	392	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611													---	295	---	---	8	---					
TAOK2	9344	broad.mit.edu	37	16	29998498	29998500	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr16:29998498_29998500delCTG	uc010bzm.2	+	14	2961_2963	c.2926_2928delCTG	c.(2926-2928)ctgdel	p.L981del	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_In_Frame_Del_p.L861del|TAOK2_uc002dva.2_In_Frame_Del_p.L974del|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_In_Frame_Del_p.L801del	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	974	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCTGCCCCTCCTGCTGCTGCTGC	0.709													---	355	---	---	7	---					
SRCAP	10847	broad.mit.edu	37	16	30736314	30736314	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr16:30736314delC	uc002dze.1	+	24	5954	c.5569delC	c.(5569-5571)cccfs	p.P1857fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.P1652fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1857	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCGCTCTGGTCCCCCCAGCCC	0.612													---	1197	---	---	7	---					
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr16:69782978_69782980delTCC	uc002exs.3	-	5	583_585	c.567_569delGGA	c.(565-570)gaggaa>gaa	p.189_190EE>E		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA.	189	Poly-Glu.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522													---	533	---	---	18	---					
ITGAE	3682	broad.mit.edu	37	17	3664312	3664314	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr17:3664312_3664314delTCC	uc002fwo.4	-	5	690_692	c.591_593delGGA	c.(589-594)gaggaa>gaa	p.197_198EE>E		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	197	Glu-rich (acidic).|X-domain (extra domain).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CTCACCAGCTtcctcctcctcct	0.586													---	347	---	---	7	---					
EPN2	22905	broad.mit.edu	37	17	19232950	19232950	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr17:19232950delA	uc002gvd.4	+	8	1849	c.1401delA	c.(1399-1401)tcafs	p.S467fs	EPN2_uc010cql.1_Frame_Shift_Del_p.S176fs|EPN2_uc002gve.4_Frame_Shift_Del_p.S410fs|EPN2_uc002gvf.4_Frame_Shift_Del_p.S182fs|EPN2_uc010vyo.2_Frame_Shift_Del_p.S175fs|EPN2_uc002gvh.1_Frame_Shift_Del_p.S467fs|EPN2_uc010vyp.2_Frame_Shift_Del_p.S403fs|EPN2_uc010vyq.2_Frame_Shift_Del_p.S404fs|EPN2_uc002gvj.3_Frame_Shift_Del_p.S130fs	NM_014964	NP_001096134	O95208	EPN2_HUMAN	Homo sapiens epsin 2 (EPN2), transcript variant 2, mRNA.	467	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding	p.T470fs*19(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TTCGGACTTCAAAAAAAACAG	0.393													---	477	---	---	10	---					
SUPT6H	6830	broad.mit.edu	37	17	27001303	27001305	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr17:27001303_27001305delGAG	uc010crt.3	+	3	304_306	c.112_114delGAG	c.(112-114)gagdel	p.E43del	SUPT6H_uc002hby.3_In_Frame_Del_p.E43del	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	43	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity	p.E42D(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCTTCCAGATGAGGAGGAGGAGG	0.453													---	291	---	---	9	---					
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr17:27027202_27027204delAGC	uc010crt.3	+	34	4765_4767	c.4573_4575delAGC	c.(4573-4575)agcdel	p.S1528del	SUPT6H_uc002hby.3_In_Frame_Del_p.S1528del	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1528	Poly-Ser.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537													---	1379	---	---	35	---					
HOXB2	3212	broad.mit.edu	37	17	46622130	46622132	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr17:46622130_46622132delAGG	uc002inm.3	-	0	262_264	c.142_144delCCT	c.(142-144)cctdel	p.P48del		NM_002145	NP_002136	P14652	HXB2_HUMAN	Homo sapiens homeobox B2 (HOXB2), mRNA.	48					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						TTTGCTCGAAAGGAGGAGGAGGA	0.596													---	455	---	---	8	---					
BZRAP1	9256	broad.mit.edu	37	17	56387404	56387406	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr17:56387404_56387406delTCC	uc002ivx.4	-	20	4684_4686	c.3813_3815delGGA	c.(3811-3816)gaggaa>gaa	p.1271_1272EE>E	BZRAP1_uc010dcs.3_In_Frame_Del_p.1211_1212EE>E|BZRAP1_uc010wnt.2_In_Frame_Del_p.1271_1272EE>E	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1271	Poly-Glu.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGctcctcttcctcctcctcct	0.586													---	396	---	---	7	---					
FTSJ3	117246	broad.mit.edu	37	17	61899155	61899157	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr17:61899155_61899157delCTC	uc002jbz.3	-	13	1600_1602	c.1522_1524delGAG	c.(1522-1524)gagdel	p.E508del	FTSJ3_uc002jca.3_In_Frame_Del_p.E508del	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	508					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCAGTGGATTCTCCTCCTCCTCC	0.537													---	979	---	---	13	---					
TEX2	55852	broad.mit.edu	37	17	62291438	62291440	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr17:62291438_62291440delTCC	uc002jed.3	-	1	289_291	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	TEX2_uc002jec.3_In_Frame_Del_p.46_47EE>E|TEX2_uc002jee.3_In_Frame_Del_p.46_47EE>E	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	46	Poly-Glu.				signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ctcctcctcttcctcctcctcct	0.552													---	454	---	---	7	---					
CD300A	11314	broad.mit.edu	37	17	72469708	72469709	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr17:72469708_72469709insG	uc002jkv.3	+	1	395_396	c.74_75insG	c.(73-75)gcgfs	p.A25fs	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	25	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity	p.V24M(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						AGGACCGTGGCGGGCCCCGTGG	0.569													---	711	---	---	12	---					
CD300A	11314	broad.mit.edu	37	17	72469711	72469712	+	Frame_Shift_Ins	INS	-	GC	GC			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr17:72469711_72469712insGC	uc002jkv.3	+	1	398_399	c.77_78insGC	c.(76-78)ggcfs	p.G26fs	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	26	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						ACCGTGGCGGGCCCCGTGGGGG	0.569													---	682	---	---	13	---					
GGA3	23163	broad.mit.edu	37	17	73239175	73239175	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr17:73239175delT	uc002jni.2	-	5	536	c.497delA	c.(496-498)aacfs	p.N166fs	GGA3_uc002jnk.2_Frame_Shift_Del_p.N94fs|GGA3_uc002jnj.2_Frame_Shift_Del_p.N133fs|GGA3_uc010wry.2_Frame_Shift_Del_p.N94fs|GGA3_uc010wrw.2_Frame_Shift_Del_p.N44fs|GGA3_uc010wrx.2_Frame_Shift_Del_p.N44fs|GGA3_uc010wrz.2_Intron	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA.	166	Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			AAAAACAGGGTTTTTGGGACG	0.542													---	882	---	---	8	---					
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr18:12986927_12986929delTCC	uc002krq.3	+	8	1275_1277	c.1137_1139delTCC	c.(1135-1140)cttcct>ctt	p.P385del	SEH1L_uc002krr.3_3'UTR	NM_001013437	NP_001013455	Q96EE3	SEH1_HUMAN	Homo sapiens SEH1-like (S. cerevisiae) (SEH1L), transcript variant 1, mRNA.	0					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mRNA transport|mitotic metaphase plate congression|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522													---	286	---	---	12	---					
HAUS1	115106	broad.mit.edu	37	18	43685174	43685174	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr18:43685174delA	uc002lbu.3	+	1	125	c.45delA	c.(43-45)ttafs	p.L15fs	ATP5A1_uc002lbt.1_5'Flank|HAUS1_uc002lbv.3_5'UTR	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 1 (HAUS1), transcript variant 1, mRNA.	15					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CTGCGTGGTTAAAAAAAATAT	0.393													---	240	---	---	7	---					
CXXC1	30827	broad.mit.edu	37	18	47812275	47812277	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr18:47812275_47812277delCTG	uc002leq.4	-	4	1214_1216	c.481_483delCAG	c.(481-483)cagdel	p.Q161del	CXXC1_uc002lep.4_In_Frame_Del_p.Q18del|CXXC1_uc002ler.4_In_Frame_Del_p.Q161del|CXXC1_uc010doy.3_In_Frame_Del_p.Q161del	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	161					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						ACCGTTTGATctgctgctgctgc	0.557													---	226	---	---	15	---					
MLLT1	4298	broad.mit.edu	37	19	6222272	6222274	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr19:6222272_6222274delAGG	uc002mek.3	-	5	1132_1134	c.968_970delCCT	c.(967-972)tccttc>ttc	p.S323del		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	323	Poly-Ser.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TTGTCCGAGAAGGAGGAGGAGGA	0.650			T	MLL	AL								---	217	---	---	7	---					
MUC16	94025	broad.mit.edu	37	19	9059157	9059157	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr19:9059157delT	uc002mkp.3	-	2	28493	c.28289delA	c.(28288-28290)aacfs	p.N9430fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9432	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						TGGAGGGCTGTTTTTTTCCAC	0.512													---	757	---	---	7	---					
ECSIT	51295	broad.mit.edu	37	19	11618821	11618821	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr19:11618821delG	uc002msb.3	-	4	915	c.781delC	c.(781-783)cagfs	p.Q261fs	ZNF653_uc002mrz.2_5'Flank|ECSIT_uc010dyc.2_Frame_Shift_Del_p.Q261fs|ECSIT_uc010dyd.3_Frame_Shift_Del_p.Q261fs|ECSIT_uc010xma.2_Frame_Shift_Del_p.Q47fs	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	261					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ATGTGGGGCTGGGGGGGATCT	0.582													---	705	---	---	7	---					
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr19:12430217delA	uc002mtp.3	-	3	860	c.622delT	c.(622-624)tggfs	p.W208fs	ZNF563_uc002mtq.2_Intron	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	Homo sapiens zinc finger protein 563 (ZNF563), mRNA.	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACTGGGCCAAAAAAAAGCT	0.393													---	807	---	---	12	---					
KIAA1683	80726	broad.mit.edu	37	19	18376953	18376953	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr19:18376953delT	uc010ebn.2	-	2	1613	c.1397delA	c.(1396-1398)aacfs	p.N466fs	KIAA1683_uc002nin.2_Frame_Shift_Del_p.N466fs|KIAA1683_uc010xqe.1_Frame_Shift_Del_p.N420fs	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	466						mitochondrion		p.N466S(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTGCAATGGGTTTTTGGCTGG	0.612													---	681	---	---	7	---					
SUGP2	10147	broad.mit.edu	37	19	19136394	19136394	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr19:19136394delT	uc002nkz.1	-	2	825	c.805delA	c.(805-807)atafs	p.I269fs	SUGP2_uc002nkx.2_Frame_Shift_Del_p.I255fs|SUGP2_uc002nla.1_Frame_Shift_Del_p.I255fs|SUGP2_uc002nlb.2_Frame_Shift_Del_p.I255fs|SUGP2_uc010xqk.1_Intron	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	255					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACGGTGGGTATTTTTTTTGTG	0.502													---	761	---	---	15	---					
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr19:35773520_35773522delCTC	uc002nyw.3	+	0	111_113	c.40_42delCTC	c.(40-42)ctcdel	p.L18del		NM_021175	NP_066998	P81172	HEPC_HUMAN	Homo sapiens hepcidin antimicrobial peptide (HAMP), mRNA.	18					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.640													---	943	---	---	20	---					
ERF	2077	broad.mit.edu	37	19	42753149	42753151	+	In_Frame_Del	DEL	GAA	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr19:42753149_42753151delGAA	uc002ote.4	-	3	1271_1273	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	ERF_uc002otd.4_In_Frame_Del_p.102_103SS>S	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	371	Poly-Ser.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.680													---	458	---	---	7	---					
DMWD	1762	broad.mit.edu	37	19	46289542	46289544	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr19:46289542_46289544delCTC	uc002pdj.1	-	2	1256_1258	c.1210_1212delGAG	c.(1210-1212)gagdel	p.E404del	DMWD_uc021uwc.1_In_Frame_Del_p.R57del|DMWD_uc010eko.1_In_Frame_Del_p.E89del	NM_004943	NP_004934	Q09019	DMWD_HUMAN	Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA.	404					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CAGCCTCGGGCTCCTCCTCCTCC	0.695													---	338	---	---	9	---					
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	-	-	rs62639328	byFrequency	TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr19:46299165_46299167delCCT	uc002pdm.3	-	5	2285_2287	c.2114_2116delAGG	c.(2113-2118)gagggc>ggc	p.E705del	RSPH6A_uc002pdl.3_In_Frame_Del_p.E441del	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	705	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586													---	759	---	---	37	---					
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	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													---	303	---	---	7	---					
NUP62	23636	broad.mit.edu	37	19	50411672	50411673	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr19:50411672_50411673insG	uc002prb.3	-	1	1636_1637	c.1392_1393insC	c.(1390-1395)cccgccfs	p.P464fs	IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Frame_Shift_Ins_p.P464fs|NUP62_uc002pqy.3_Frame_Shift_Ins_p.P464fs|NUP62_uc002pra.3_Frame_Shift_Ins_p.P464fs|NUP62_uc002pqz.3_Frame_Shift_Ins_p.P464fs|NUP62_uc002prc.3_Frame_Shift_Ins_p.P388fs|NUP62_uc021uya.1_Frame_Shift_Ins_p.P464fs	NM_012346	NP_714941	P37198	NUP62_HUMAN	Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.	464					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTGGTGTCGGCGGGGGCCCCGG	0.579													---	1143	---	---	7	---					
LILRB5	10990	broad.mit.edu	37	19	54754872	54754873	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr19:54754872_54754873insA	uc010yer.1	-	12	1873_1874	c.1762_1763insT	c.(1762-1764)agafs	p.R588fs	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	394					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGAAAGGACTCTCTCAGTGTCC	0.609													---	159	---	---	9	---					
NLRP2	55655	broad.mit.edu	37	19	55494630	55494632	+	In_Frame_Del	DEL	GAA	-	-	rs3745905	byFrequency	TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr19:55494630_55494632delGAA	uc021vbq.1	+	5	1675_1677	c.1564_1566delGAA	c.(1564-1566)gaadel	p.E523del	NLRP2_uc010yfp.2_In_Frame_Del_p.E500del|NLRP2_uc002qij.3_In_Frame_Del_p.E523del|NLRP2_uc010esp.3_In_Frame_Del_p.E501del|NLRP2_uc010esn.3_In_Frame_Del_p.E499del|NLRP2_uc010eso.3_In_Frame_Del_p.E520del	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	523	NACHT.|Poly-Glu.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAAGGAGGAGGAAGAGGATAGGG	0.567													---	468	---	---	8	---					
ZNF329	79673	broad.mit.edu	37	19	58639340	58639341	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr19:58639340_58639341insG	uc002qrn.3	-	3	1767_1768	c.1530_1531insC	c.(1528-1533)cccagcfs	p.P510fs	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Frame_Shift_Ins_p.P510fs	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GGACACCGGCTGGGACCCTCCC	0.500													---	1108	---	---	8	---					
SYNDIG1	79953	broad.mit.edu	37	20	24524183	24524185	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr20:24524183_24524185delGGA	uc002wtw.1	+	1	1083_1085	c.450_452delGGA	c.(448-453)gtggag>gtg	p.E155del		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	155	Poly-Glu.				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTACGATGTGGAGGAGGAGGAG	0.547													---	955	---	---	12	---					
FRG1B	284802	broad.mit.edu	37	20	29624034	29624035	+	Splice_Site	INS	-	G	G	rs73621649		TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	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													---	130	---	---	9	---					
PIGP	51227	broad.mit.edu	37	21	38444815	38444815	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr21:38444815delT	uc002yvw.1	-	0	289	c.73delA	c.(73-75)atgfs	p.M25fs	TTC3_uc002yvz.3_5'Flank|TTC3_uc011aee.1_5'Flank|PIGP_uc002yvy.1_Non-coding_Transcript|PIGP_uc002yvx.1_Frame_Shift_Del_p.M1fs|TTC3_uc011aed.1_5'Flank|TTC3_uc010gne.1_5'Flank	NM_153681	NP_710149	P57054	PIGP_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class P (PIGP), transcript variant 1, mRNA.	25					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			kidney(1)|urinary_tract(1)	2		Myeloproliferative disorder(46;0.0412)				TTTTCCACCATTTTTCCTGGG	0.488													---	1114	---	---	8	---					
PLAC4	191585	broad.mit.edu	37	21	42551313	42551313	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr21:42551313delC	uc002yyz.3	-	0	5854	c.243delG	c.(241-243)tggfs	p.W81fs	BACE2_uc002yyw.3_Intron|BACE2_uc002yyx.3_Intron|BACE2_uc002yyy.3_Intron	NM_182832	NP_878252	Q8WY50	PLAC4_HUMAN	Homo sapiens placenta-specific 4 (PLAC4), mRNA.	81													Prostate(19;2.29e-06)				gtgagggtatccagggtgagt	0.607													---	104	---	---	7	---					
PLAC4	191585	broad.mit.edu	37	21	42551433	42551433	+	Frame_Shift_Del	DEL	G	-	-	rs5844069		TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr21:42551433delG	uc002yyz.3	-	0	5734	c.123delC	c.(121-123)cccfs	p.P41fs	BACE2_uc002yyw.3_Intron|BACE2_uc002yyx.3_Intron|BACE2_uc002yyy.3_Intron	NM_182832	NP_878252	Q8WY50	PLAC4_HUMAN	Homo sapiens placenta-specific 4 (PLAC4), mRNA.	41				P -> H (in Ref. 1; AAG23170).									Prostate(19;2.29e-06)				GACGGTGTCTGGGGTGAGTGA	0.607													---	164	---	---	31	---					
PWP2	5822	broad.mit.edu	37	21	45535692	45535694	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr21:45535692_45535694delGAG	uc002zeb.3	+	6	817_819	c.727_729delGAG	c.(727-729)gagdel	p.E247del		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	247	Poly-Glu.					cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		ggaggaggaagaggaggaggagg	0.640													---	200	---	---	8	---					
PTTG1IP	754	broad.mit.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr21:46276194_46276196delGCA	uc002zgb.2	-	3	648_650	c.361_363delTGC	c.(361-363)tgcdel	p.C121del	PTTG1IP_uc011afk.2_Intron	NM_004339	NP_004330	P53801	PTTG_HUMAN	Homo sapiens pituitary tumor-transforming 1 interacting protein (PTTG1IP), mRNA.	121	Poly-Cys.				protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616													---	352	---	---	8	---					
CCT8L2	150160	broad.mit.edu	37	22	17071786	17071787	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr22:17071786_17071787insT	uc002zlp.1	-	0	1914_1915	c.1654_1655insA	c.(1654-1656)atcfs	p.I552fs		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	552					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAATCCAAGGATTTTTTTTGTT	0.411													---	579	---	---	7	---					
MYH9	4627	broad.mit.edu	37	22	36689419	36689421	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr22:36689419_36689421delCCT	uc003apg.3	-	29	4280_4282	c.4049_4051delAGG	c.(4048-4053)gaggcc>gcc	p.E1350del		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1350				E -> EE (in Ref. 7).	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCCTC	0.650			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				---	433	---	---	8	---					
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr22:41650469_41650471delTCC	uc003azs.3	-	9	2571_2573	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	RANGAP1_uc003azt.3_In_Frame_Del_p.367_368EE>E|RANGAP1_uc003azu.3_In_Frame_Del_p.367_368EE>E|RANGAP1_uc011aoz.2_In_Frame_Del_p.312_313EE>E	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	367	Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562													---	546	---	---	22	---					
MLC1	23209	broad.mit.edu	37	22	50506871	50506872	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chr22:50506871_50506872insG	uc003bjg.1	-	9	1157_1158	c.884_885insC	c.(883-885)ccafs	p.P295fs	MLC1_uc011arl.1_Frame_Shift_Ins_p.P243fs|MLC1_uc003bjh.1_Frame_Shift_Ins_p.P295fs|MLC1_uc011arm.1_Frame_Shift_Ins_p.P265fs|MLC1_uc011arn.1_Frame_Shift_Ins_p.P216fs|MLC1_uc011aro.1_Frame_Shift_Ins_p.P261fs	NM_139202	NP_631941	Q15049	MLC1_HUMAN	Homo sapiens megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1), transcript variant 2, mRNA.	295						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CTTTTATGGCTGGCGGGTAATC	0.525													---	590	---	---	12	---					
RBM10	8241	broad.mit.edu	37	X	47030586	47030588	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chrX:47030586_47030588delGAG	uc004dhi.3	+	3	785_787	c.556_558delGAG	c.(556-558)gagdel	p.E190del	RBM10_uc004dhe.2_In_Frame_Del_p.E115del|RBM10_uc004dhf.3_In_Frame_Del_p.E125del|RBM10_uc004dhh.3_In_Frame_Del_p.E125del|RBM10_uc010nhq.3_Intron|RBM10_uc004dhg.3_Intron	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	125	RRM 1.				RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ggaggaggatgaggaggaggagg	0.665													---	52	---	---	7	---					
NAP1L3	4675	broad.mit.edu	37	X	92928153	92928155	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chrX:92928153_92928155delTGC	uc004efq.3	-	0	528_530	c.149_151delGCA	c.(148-153)agcact>act	p.S50del	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	50	Ser-rich.				nucleosome assembly	chromatin assembly complex		p.S49N(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ctgccactagtgctgctgctgct	0.586													---	80	---	---	8	---					
MAGEC1	9947	broad.mit.edu	37	X	140994114	140994116	+	In_Frame_Del	DEL	CTC	-	-	rs141900922	byFrequency	TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chrX:140994114_140994116delCTC	uc004fbt.3	+	3	1248_1250	c.924_926delCTC	c.(922-927)agctcc>agc	p.308_309SS>S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	308							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.483										HNSCC(15;0.026)			---	1763	---	---	8	---					
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	-	-	rs7877654	byFrequency	TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chrX:149937526_149937528delGGC	uc004fek.3	-	11	1026_1028	c.798_800delGCC	c.(796-801)ccgccc>ccc	p.266_267PP>P	CD99L2_uc011myb.2_In_Frame_Del_p.183_184PP>P|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_In_Frame_Del_p.256_257PP>P|CD99L2_uc004fem.3_In_Frame_Del_p.207_208PP>P|CD99L2_uc004fen.3_In_Frame_Del_p.184_185PP>P	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	256					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611													---	503	---	---	7	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	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													---	395	---	---	9	---					
UTY	7404	broad.mit.edu	37	Y	15448217	15448218	+	Splice_Site	INS	-	A	A			TCGA-HZ-7920-01A-11D-2201-08	TCGA-HZ-7920-10B-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9b48534-d832-41b4-b67a-d8f4b44d24f1	f34639f3-59c0-430e-9ae0-1eef76fe86aa	g.chrY:15448217_15448218insA	uc022ckf.1	-	18	3067	c.2062_splice	c.e18-1	p.G688_splice	UTY_uc004fsw.1_Splice_Site_p.G254_splice|UTY_uc022cjk.1_Splice_Site_p.G339_splice|UTY_uc022cjp.1_Splice_Site_p.G339_splice|UTY_uc022ckv.1_Splice_Site_p.G607_splice|UTY_uc022cjq.1_Intron|UTY_uc022ckw.1_Splice_Site_p.G620_splice|UTY_uc022cjr.1_Splice_Site_p.G451_splice|UTY_uc022ckx.1_Splice_Site_p.G591_splice|UTY_uc022cjs.1_Splice_Site_p.G575_splice|UTY_uc022cky.1_Splice_Site_p.G419_splice|UTY_uc022cjt.1_Splice_Site_p.G339_splice|UTY_uc022ckz.1_Splice_Site_p.G424_splice|UTY_uc022cju.1_Intron|UTY_uc022cla.1_Splice_Site_p.G27_splice|UTY_uc022cjv.1_Splice_Site_p.G508_splice|UTY_uc022clb.1_Splice_Site_p.G260_splice|UTY_uc022cjw.1_Splice_Site_p.G633_splice|UTY_uc022cjx.1_Splice_Site_p.G564_splice|UTY_uc022cjy.1_Splice_Site_p.G73_splice|UTY_uc022cjz.1_Splice_Site_p.G512_splice|UTY_uc022cka.1_Intron|UTY_uc022ckb.1_Intron|UTY_uc022ckc.1_Intron|UTY_uc022ckd.1_Splice_Site_p.G136_splice|UTY_uc022cke.1_Intron|UTY_uc022ckg.1_Splice_Site_p.G636_splice|UTY_uc022ckh.1_Splice_Site_p.G339_splice|UTY_uc022cki.1_Splice_Site_p.G621_splice|UTY_uc022ckj.1_Splice_Site_p.G643_splice|UTY_uc022ckk.1_Splice_Site_p.G467_splice|UTY_uc022ckl.1_Splice_Site_p.G27_splice|UTY_uc022ckm.1_Splice_Site_p.G542_splice|UTY_uc022ckn.1_Splice_Site_p.G607_splice|UTY_uc022cko.1_Splice_Site_p.G512_splice|UTY_uc022ckp.1_Splice_Site_p.G512_splice|UTY_uc004fsx.1_Splice_Site_p.G591_splice|UTY_uc022ckq.1_Splice_Site_p.G636_splice|UTY_uc022cjl.1_Splice_Site_p.G136_splice|UTY_uc022ckr.1_Splice_Site_p.G237_splice|UTY_uc022cjm.1_Splice_Site_p.G636_splice|UTY_uc022cks.1_Splice_Site_p.G467_splice|UTY_uc022cjn.1_Splice_Site_p.G260_splice|UTY_uc022ckt.1_Splice_Site_p.G591_splice|UTY_uc022cjo.1_Splice_Site_p.G379_splice|UTY_uc022cku.1_Splice_Site_p.G339_splice|UTY_uc022clc.1_Splice_Site_p.G621_splice|UTY_uc022cld.1_Splice_Site_p.G483_splice|UTY_uc022cle.1_Splice_Site_p.G408_splice|UTY_uc022clf.1_Splice_Site_p.G467_splice|UTY_uc022clg.1_Splice_Site_p.G339_splice|UTY_uc022clh.1_Splice_Site_p.G558_splice|UTY_uc022cli.1_Splice_Site_p.G607_splice|UTY_uc022clj.1_Splice_Site_p.G355_splice|UTY_uc022clk.1_Splice_Site_p.G152_splice|UTY_uc022cll.1_Splice_Site_p.G392_splice|UTY_uc022clm.1_Splice_Site_p.G243_splice|UTY_uc022cln.1_Splice_Site_p.G379_splice|UTY_uc022clo.1_Splice_Site_p.G591_splice|UTY_uc022clp.1_Splice_Site_p.G419_splice|UTY_uc022clq.1_Splice_Site_p.G561_splice|UTY_uc004fsy.3_Splice_Site_p.G591_splice|UTY_uc022clr.1_Splice_Site_p.G339_splice|UTY_uc022cls.1_Splice_Site_p.G620_splice|UTY_uc022clt.1_Splice_Site_p.G339_splice|UTY_uc022clu.1_Splice_Site_p.G575_splice|UTY_uc022clv.1_Splice_Site_p.G384_splice|UTY_uc022clw.1_Splice_Site_p.G666_splice|UTY_uc022clx.1_Splice_Site_p.G688_splice|UTY_uc022cly.1_Splice_Site_p.G636_splice|UTY_uc022clz.1_Splice_Site_p.G339_splice|UTY_uc022cma.1_Splice_Site_p.G395_splice|UTY_uc022cmb.1_Splice_Site_p.G237_splice|UTY_uc022cng.1_Splice_Site_p.G561_splice|UTY_uc022cnh.1_Intron|UTY_uc004fsz.3_Splice_Site_p.G591_splice|UTY_uc022cmc.1_Splice_Site|UTY_uc022cmd.1_Splice_Site_p.G139_splice|UTY_uc022cme.1_Intron|UTY_uc022cmf.1_Splice_Site_p.G339_splice|UTY_uc022cmg.1_Splice_Site_p.G451_splice|UTY_uc022cmh.1_Splice_Site_p.G575_splice|UTY_uc022cmi.1_Splice_Site_p.G384_splice|UTY_uc022cmj.1_Splice_Site_p.G564_splice|UTY_uc022cmk.1_Splice_Site_p.G136_splice|UTY_uc022cml.1_Splice_Site_p.G652_splice|UTY_uc022cmm.1_Splice_Site_p.G688_splice|UTY_uc022cmn.1_Splice_Site_p.G636_splice|UTY_uc022cmo.1_Splice_Site_p.G306_splice|UTY_uc022cmp.1_Intron|UTY_uc022cmq.1_Intron|UTY_uc022cmr.1_Splice_Site_p.G637_splice|UTY_uc022cms.1_Splice_Site_p.G434_splice|UTY_uc022cmt.1_Splice_Site_p.G467_splice|UTY_uc022cmu.1_Splice_Site_p.G574_splice|UTY_uc022cmv.1_Splice_Site_p.G558_splice|UTY_uc022cmw.1_Splice_Site_p.G379_splice|UTY_uc022cmx.1_Splice_Site_p.G363_splice|UTY_uc022cmy.1_Splice_Site_p.G379_splice|UTY_uc022cmz.1_Splice_Site_p.G346_splice|UTY_uc022cna.1_Splice_Site_p.G386_splice|UTY_uc022cnb.1_Splice_Site_p.G346_splice|UTY_uc022cnc.1_Splice_Site_p.G260_splice|UTY_uc022cnd.1_Splice_Site_p.G658_splice|UTY_uc022cne.1_Intron|UTY_uc022cnf.1_Splice_Site_p.G437_splice|UTY_uc022cni.1_Splice_Site_p.G323_splice|UTY_uc022cnj.1_Splice_Site_p.G339_splice|UTY_uc022cnk.1_Splice_Site_p.G575_splice|UTY_uc022cnl.1_Splice_Site_p.G588_splice|UTY_uc022cnm.1_Splice_Site_p.G659_splice|UTY_uc022cnn.1_Splice_Site_p.G483_splice|UTY_uc022cno.1_Splice_Site_p.G558_splice|UTY_uc022cnp.1_Splice_Site_p.G607_splice|UTY_uc022cnq.1_Splice_Site_p.G591_splice|UTY_uc022cnr.1_Splice_Site_p.G346_splice|UTY_uc022cns.1_Splice_Site_p.G543_splice|UTY_uc022cnt.1_Splice_Site_p.G363_splice|UTY_uc022cnu.1_Splice_Site_p.G666_splice|UTY_uc022cnv.1_Splice_Site_p.G621_splice|UTY_uc022cnw.1_Splice_Site_p.G607_splice|UTY_uc022cnx.1_Splice_Site_p.G379_splice|UTY_uc022cny.1_Splice_Site_p.G126_splice|UTY_uc022cnz.1_Intron|UTY_uc022coa.1_Intron	NM_007125	NP_009056	O14607	UTY_HUMAN	Homo sapiens ubiquitously transcribed tetratricopeptide repeat gene, Y-linked (UTY), transcript variant 3, mRNA.	591					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						ATGAAGCCCCTAAAAAAAAAAA	0.361													---	99	---	---	19	---					
