Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
VIPR2_chr7_159023175_159149867	159101869	C C	CACTGTTC others(97): Show CACTGTTCCTGTGGTAGTGAACGGGTCTCACGAGATCCGACGAGGCGGTT CCAACTGTTCCTGTGGTAGTGAATGAGTCTCACGAGATCCGACGAGGTGG TTCCG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp1 HG00642.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0234 a0001c0002t0005g0265 a0001c0002t0005g0234 a0001c0002t0005g0265	2	277	0.0072	104	c.357 others(121): Show c.357+1784_357+1887dupCGGAACCACCTCGTCGGATCTCGTGAGA CTCATTCACTACCACAGGAACAGTTGGAACCGCCTCGTCGGATCTCGTGA GACCCGTTCACTACCACAGGAACAGT	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159146932	A A	AGTCATCT others(97): Show AGTCATCTATCATCTGCCTATTTGTCATCTATCTGTGATCTATCATATCT GTGATCTGCCTGTCATCTATCAGTCATCTATCATCTGCCTATCTGTCATC TGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03225.hp2 NA19088.hp2 others(1): Show HG03209.hp2 HG03225.hp2 NA19088.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0054 a0001c0002t0007 a0001c0002t0054	a0001c0002t0007g0009 a0001c0002t0007g0158 a0001c0002t0007g0159 others(1): Show a0001c0002t0007g0009 a0001c0002t0007g0158 a0001c0002t0007g0159 a0001c0002t0054g0279	4	334	0.0120	104	c.-21 others(115): Show c.-2162_-2161insAGGCAGATGACAGATAGGCAGATGATAGATGACT GATAGATGACAGGCAGATCACAGATATGATAGATCACAGATAGATGACAA ATAGGCAGATGATAGATGAC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding		2066		chr7	TogoVar
VPS16_chr20_2835745_2871732	2842829	T T	TATAGATG others(97): Show TATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC GATAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01261.hp2 HG01496.hp2 others(2): Show HG00099.hp2 HG01261.hp2 HG01496.hp2 HG01981.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0081 a0001c0001t0001g0082 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0096	5	338	0.0148	104	c.53+ others(119): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
WSCD1_chr17_6065379_6129427	6094838	G G	GGCAGAAG others(97): Show GGCAGAAGCAAGAGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGG GAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAATGACTTATGGAG AACTA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02486.hp2 others(6): Show HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02922.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 NA18522.hp2 NA20300.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0005 a0004c0010 a0001c0002 a0003c0005 a0004c0010	a0001c0002t0026 a0003c0005t0014 a0003c0005t0020 others(3): Show a0001c0002t0026 a0003c0005t0014 a0003c0005t0020 a0003c0005t0022 a0003c0005t0074 a0004c0010t0040	a0001c0002t0026g0204 a0001c0002t0026g0205 a0003c0005t0014g0193 others(6): Show a0001c0002t0026g0204 a0001c0002t0026g0205 a0003c0005t0014g0193 a0003c0005t0020g0343 a0003c0005t0020g0345 a0003c0005t0022g0344 a0003c0005t0074g0387 a0004c0010t0040g0042 a0004c0010t0040g0043	9	426	0.0211	104	c.728 others(119): Show c.728-251_728-250insAAGGAAGGAAGGGAGGGAGGGAGGAAGGAA GGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAATGACTT ATGGAGAACTAGCAGAAGCAAGAG	WSCD1	ENSG00000179314.16	transcript	ENST00000317744.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
ZBTB46_chr20_63738670_63836264	63824782	A A	ATCTCACC others(97): Show ATCTCACCGTCATCAAACCCTCCCTCCCCCATCTTCCCATCACTGCACCC CCGTCTCACCGTCATCAAACCCTCCCTCCCCCATCTTCCCATCACTGCAC CCCCG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01928.hp2 HG01934.hp2 others(1): Show HG01358.hp2 HG01928.hp2 HG01934.hp2 HG02683.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0006 a0001c0005t0006 a0001c0004t0006 a0001c0005t0006	a0001c0004t0006g0191 a0001c0004t0006g0192 a0001c0004t0006g0193 others(1): Show a0001c0004t0006g0191 a0001c0004t0006g0192 a0001c0004t0006g0193 a0001c0005t0006g0190	4	120	0.0333	104	c.-34 others(121): Show c.-34+6211_-34+6314dupCGGGGGTGCAGTGATGGGAAGATGGGGG AGGGAGGGTTTGATGACGGTGAGACGGGGGTGCAGTGATGGGAAGATGGG GGAGGGAGGGTTTGATGACGGTGAGA	ZBTB46	ENSG00000130584.12	transcript	ENST00000245663.9	protein_coding	1/4			chr20	TogoVar
ZBTB46_chr20_63738670_63836264	63825085	T T	TGCACCCC others(97): Show TGCACCCCCGTCTCACCGTCATCAAACCCTCCCTCCCCCATCTTCCCATC ACCGCACCCCCGTCTCACCGTCATCAAACCCTCCTTCCCCCATCTTCCCA TCACC	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19240.hp1 HG02976.hp1 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0023 a0002c0003 a0002c0023	a0002c0003t0011 a0002c0023t0010 a0002c0003t0011 a0002c0023t0010	a0002c0003t0011g0294 a0002c0023t0010g0295 a0002c0003t0011g0294 a0002c0023t0010g0295	2	230	0.0087	104	c.-34 others(121): Show c.-34+6011_-34+6012insGGTGATGGGAAGATGGGGGAAGGAGGGT TTGATGACGGTGAGACGGGGGTGCGGTGATGGGAAGATGGGGGAGGGAGG GTTTGATGACGGTGAGACGGGGGTGC	ZBTB46	ENSG00000130584.12	transcript	ENST00000245663.9	protein_coding	1/4			chr20	TogoVar
ZC3H12B_chrX_65029826_65512887	65373895	A A	ATATATAT others(97): Show ATATATATATATATATATACTATATATATAGTATATATATATAGTTTATA TATATACTATATATATAGTATATATATATAGTTAATATATATACTATATA TATAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	58	0.0172	104	c.-26 others(123): Show c.-269+4909_-269+4910insTATATACTATATATATAGTATATATA TATAGTTTATATATATACTATATATATAGTATATATATATAGTTAATATA TATACTATATATATAGTATATATATATA	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZC3H12B_chrX_65029826_65512887	65373907	A A	ATATATAT others(97): Show ATATATATACTATATATATAGTATATATATATATATATATACTATATATA TAGTATATATATATAGTTTATATATATATACTATATATATAGTATATATA TATAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0011 a0001c0001t0007g0011	1	116	0.0086	104	c.-26 others(123): Show c.-269+4909_-269+4910insTATATATACTATATATATAGTATATA TATATATATATATACTATATATATAGTATATATATATAGTTTATATATAT ATACTATATATATAGTATATATATATAG	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	4/9			chrX	TogoVar
ZC3H12B_chrX_65029826_65512887	65450571	G G	GTATATAT others(97): Show GTATATATATGTATATATGCATATATATACATATGTATATATGCATATAT ATACATATGTATATATGCATATATATACATATGTATATATGCATATATAT ACATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0109 a0001c0001t0008g0109	1	147	0.0068	104	c.-15 others(125): Show c.-156-38074_-156-38073insATATATATGTATATATGCATATAT ATACATATGTATATATGCATATATATACATATGTATATATGCATATATAT ACATATGTATATATGCATATATATACATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZC3H12B_chrX_65029826_65512887	65450769	G G	GTATACAT others(97): Show GTATACATATGTGTATATATGTATATGTATACATATGTGTATATATGTAT ATATATACATATGTGTATATATGTATATATATACATATGTGTATATATGT ATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	99	0.0101	104	c.-15 others(125): Show c.-156-37852_-156-37851insGTATACATATGTGTATATATGTAT ATATATACATATGTGTATATATGTATATATATACATATGTGTATATATGT ATATATATACATATGTGTATATATGTATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZC4H2_chrX_64910807_64981450	64954356	T T	TTATATAT others(97): Show TTATATATATATATATATATATAATTATATATATATATAATTATATATAT ATATAATTATATATATATATAATTATATATATATATATATATATATAATT ATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	150	0.0067	104	c.53+ others(121): Show c.53+21968_53+21969insTATATAATTATATATATATATATATATA TATAATTATATATATATATAATTATATATATATATAATTATATATATATA TAATTATATATATATATATATATATA	ZC4H2	ENSG00000126970.17	transcript	ENST00000374839.8	protein_coding	1/4			chrX	TogoVar
ZDHHC11B_chr5_705355_789729	711816	A A	ATTTCTCA others(97): Show ATTTCTCAGTACTGTGCTCCCATTTCCCAGCACTATGCTCCCATTTCCCA GTACTGTGCTCCCATTTCCCAATACTGTGCTCCCATTTTGCAGTGCTGTA AGCCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0041 a0001c0004t0041	a0001c0004t0041g0011 a0001c0004t0041g0011	1	269	0.0037	104	c.47 others(113): Show c.473_*474insCGGCTTACAGCACTGCAAAATGGGAGCACAGTATTG GGAAATGGGAGCACAGTACTGGGAAATGGGAGCATAGTGCTGGGAAATGG GAGCACAGTACTGAGAAA	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	14/14	4991		chr5	TogoVar
ZEB1_chr10_31314216_31534804	31533165	C C	CCATTATG others(97): Show CCATTATGCAAAAATCAATCATATACTATCTAGTGATAAGAATGGAAAAC AGAGGAATTTGCAAAAAACTAGAAAAGGTGAATTTAAAGTTCCAAGATAC ATAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG00738.hp1 others(48): Show HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01123.hp2 HG01243.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03927.hp2 NA18522.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0010 a0001c0015 others(2): Show a0001c0001 a0001c0010 a0001c0015 a0002c0003 a0005c0006	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(13): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0022 a0001c0001t0027 a0001c0010t0024 a0001c0015t0005 a0002c0003t0015 a0002c0003t0023 a0002c0003t0030 a0002c0003t0031 a0002c0003t0034 a0005c0006t0016	a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0005g0099 others(48): Show a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0005g0099 a0001c0001t0005g0101 a0001c0001t0005g0103 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0005g0158 a0001c0001t0005g0159 a0001c0001t0007g0071 a0001c0001t0007g0072 a0001c0001t0007g0073 a0001c0001t0007g0074 a0001c0001t0007g0104 a0001c0001t0007g0179 a0001c0001t0007g0180 a0001c0001t0007g0181 a0001c0001t0007g0182 a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0007g0185 a0001c0001t0008g0002 a0001c0001t0008g0154 a0001c0001t0014g0186 a0001c0001t0014g0187 a0001c0001t0014g0188 a0001c0001t0014g0189 a0001c0001t0016g0160 a0001c0001t0022g0100 a0001c0001t0022g0102 a0001c0001t0027g0005 a0001c0010t0024g0162 a0001c0015t0005g0112 a0002c0003t0015g0171 a0002c0003t0015g0172 a0002c0003t0015g0173 a0002c0003t0015g0174 a0002c0003t0023g0170 a0002c0003t0023g0175 a0002c0003t0030g0177 a0002c0003t0031g0169 a0002c0003t0034g0176 a0005c0006t0016g0161 a0005c0006t0016g0178	51	198	0.2576	104	c.59 others(115): Show c.5901_*5902insCATTATGCAAAAATCAATCATATACTATCTAGTG ATAAGAATGGAAAACAGAGGAATTTGCAAAAAACTAGAAAAGGTGAATTT AAAGTTCCAAGATACATAGT	ZEB1	ENSG00000148516.23	transcript	ENST00000424869.6	protein_coding		3362		chr10	TogoVar
ZFPM1_chr16_88448280_88542031	88468125	C C	CGCACCCG others(97): Show CGCACCCGCGAGCCCACTGCCCCTGACCCACCCGCGAGCCCACAGGCCCT GACGCACCCGCGAGCCCACCGCCCCTCAAGCACCCGCGAGCCCACCGCCC CTCAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp2 HG03195.hp1 others(1): Show HG02486.hp2 HG02647.hp2 HG03195.hp1 HG03579.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0069 a0005c0007 a0001c0001 a0001c0069 a0005c0007	a0001c0001t0010 a0001c0001t0028 a0001c0069t0028 others(1): Show a0001c0001t0010 a0001c0001t0028 a0001c0069t0028 a0005c0007t0009	a0001c0001t0010g0309 a0001c0001t0028g0310 a0001c0069t0028g0307 others(1): Show a0001c0001t0010g0309 a0001c0001t0028g0310 a0001c0069t0028g0307 a0005c0007t0009g0308	4	316	0.0127	104	c.40+ others(121): Show c.40+14464_40+14567dupTGCCCCTGACCCACCCGCGAGCCCACAG GCCCTGACGCACCCGCGAGCCCACCGCCCCTCAAGCACCCGCGAGCCCAC CGCCCCTCAAGCACCCGCGAGCCCAC	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZMIZ1_chr10_79063966_79321519	79159059	G G	GTGCCTGG others(97): Show GTGCCTGGGAGAGCTATCTGAGCATTGGGGTCCCTGCCTCATGGGGAGAT TGGGTGGGCTTCCACTGGCCTTGAGGCTCAGGCTGCACTCACTCCGTGGC ACCCC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0224 a0001c0001t0003g0224	1	286	0.0035	104	c.-13 others(123): Show c.-130-2892_-130-2891insCCTGCCTGGGAGAGCTATCTGAGCAT TGGGGTCCCTGCCTCATGGGGAGATTGGGTGGGCTTCCACTGGCCTTGAG GCTCAGGCTGCACTCACTCCGTGGCACC	ZMIZ1	ENSG00000108175.19	transcript	ENST00000334512.10	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZNF182_chrX_47969851_48008989	47971628	T T	TATACATG others(97): Show TATACATGTGTGTATATGCATACATATACATGTGTGTATATGCATACACA TGCATATACGTGTGTATATGCATACACATGCATATACGTGTGTATATGCA TACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0038 a0001c0001t0009g0038	1	268	0.0037	104	c.45 others(115): Show c.4538_*4539insGTGTATGCATATACACACGTATATGCATGTGTAT GCATATACACACGTATATGCATGTGTATGCATATACACACATGTATATGT ATGCATATACACACATGTAT	ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding		3222		chrX	TogoVar
ZNF212_chr7_149234651_149260606	149255645	T T	TCTCCTGG others(97): Show TCTCCTGGGGCCAAGGTGGAGGAGAGGCACCTGACCTGGTCAGGTCAGGT CAGGTCAGGTCAGGTCAGGTCAGGTCAGGTCAGGTCAGGTCAGGTGCCTC TCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	404	0.0025	104	c.12 others(115): Show c.1230_*1231insCTCCTGGGGCCAAGGTGGAGGAGAGGCACCTGAC CTGGTCAGGTCAGGTCAGGTCAGGTCAGGTCAGGTCAGGTCAGGTCAGGT CAGGTCAGGTGCCTCTCCTC	ZNF212	ENSG00000170260.9	transcript	ENST00000335870.7	protein_coding		40		chr7	TogoVar
ZNF280D_chr15_56625176_56738509	56669997	T T	TTATATAT others(97): Show TTATATATATATTATATATATATATATTATATATATAATATATATATATA TTATATATATATAATATATATATATATTATATATATATATTATATATATA TAATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	272	0.0037	104	c.141 others(123): Show c.1411-1041_1411-1040insTATTATATATATATAATATATATATA TAATATATATATATATTATATATATATAATATATATATATATTATATATA TAATATATATATATATAATATATATATA	ZNF280D	ENSG00000137871.21	transcript	ENST00000267807.12	protein_coding	13/21			chr15	TogoVar
ZNF280D_chr15_56625176_56738509	56669997	T T	TTATATAT others(97): Show TTATATATATATTATATATATATTATATATATATTATATATATATATATT ATATATATATATATTATATATATATAATATATATATATATTATATATATA TAATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0120 a0001c0001t0007g0120	1	272	0.0037	104	c.141 others(123): Show c.1411-1041_1411-1040insTATTATATATATATAATATATATATA TATTATATATATATAATATATATATATATAATATATATATATATAATATA TATATAATATATATATAATATATATATA	ZNF280D	ENSG00000137871.21	transcript	ENST00000267807.12	protein_coding	13/21			chr15	TogoVar
ZNF365_chr10_62369369_62407450	62369791	T T	TATATATG others(97): Show TATATATGTCCCATATCTATCTCATATATATGTCCCATATATATCTATCT CATATATATGTCCCATATATATCTATCTCATATATATGTCCCATATATCT ATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01255.hp1 HG02257.hp1 others(5): Show HG00609.hp2 HG01255.hp1 HG02257.hp1 HG02735.hp1 HG02970.hp2 HG03654.hp2 NA18949.hp1 NA18964.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0023 a0001c0001t0026 a0002c0002t0001 a0001c0001t0023 a0001c0001t0026 a0002c0002t0001	a0001c0001t0023g0067 a0001c0001t0026g0068 a0002c0002t0001g0001 others(3): Show a0001c0001t0023g0067 a0001c0001t0026g0068 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0014 a0002c0002t0001g0095	8	173	0.0462	104	c.-46 others(115): Show c.-4681_-4680insATATATGTCCCATATCTATCTCATATATATGTCC CATATATATCTATCTCATATATATGTCCCATATATATCTATCTCATATAT ATGTCCCATATATCTATCTC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62369791	T T	TATATATG others(97): Show TATATATGTCCCATATCTATCTCATATATATGTCCCATATATATCTATCT CATATATATGTCCCATATATATCTATCTCATATATATGTCGCATATATCT ATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	166	0.0060	104	c.-46 others(115): Show c.-4681_-4680insATATATGTCCCATATCTATCTCATATATATGTCC CATATATATCTATCTCATATATATGTCCCATATATATCTATCTCATATAT ATGTCGCATATATCTATCTC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62369791	T T	TATATATG others(97): Show TATATATGTCCCATATCTATCTCATATATATGTCCCATATATATCTATCT CATATATATGTCCCATATATCTATCTCATATATATGTCCCATATATACAT ATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	166	0.0060	104	c.-46 others(115): Show c.-4681_-4680insATATATGTCCCATATCTATCTCATATATATGTCC CATATATATCTATCTCATATATATGTCCCATATATCTATCTCATATATAT GTCCCATATATACATATCTC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF385B_chr2_179436982_179866612	179493747	G G	GTGTATAT others(97): Show GTGTATATGTATATATGTATACATATATGTATATGCATATATGTATACAT ATATGTATATGCATATATGTATACATATATGTATATGCATATATGTATAC ATATA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	79	0.0127	104	c.553 others(123): Show c.553-10314_553-10313insTATATGTATACATATATGCATATACA TATATGTATACATATATGCATATACATATATGTATACATATATGCATATA CATATATGTATACATATATACATATACA	ZNF385B	ENSG00000144331.20	transcript	ENST00000410066.7	protein_coding	5/9			chr2	TogoVar
ZNF385B_chr2_179436982_179866612	179493775	G G	GTATATAC others(97): Show GTATATACATATATGTATACATATGTGTATATACATATATGTATACATAT GTGTATATACATATATGTATACATATGTGTATATACATATATGTATACAT ATGTA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	115	0.0087	104	c.553 others(123): Show c.553-10342_553-10341insTACATATGTATACATATATGTATATA CACATATGTATACATATATGTATATACACATATGTATACATATATGTATA TACACATATGTATACATATATGTATATA	ZNF385B	ENSG00000144331.20	transcript	ENST00000410066.7	protein_coding	5/9			chr2	TogoVar
ZNF470_chr19_56562468_56587894	56572389	T T	TATATATG others(97): Show TATATATGTGTATATATATATACACATATATATATATGTATATATATATA TACACATATATATATATATATATATATATATATATATATACACATATATA TATAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA19068.hp2 HG02135.hp2 NA19068.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0124 a0004c0005t0002g0131 a0004c0005t0002g0124 a0004c0005t0002g0131	2	250	0.0080	104	c.61- others(119): Show c.61-2004_61-2003insTATATGTGTATATATATATACACATATATA TATATGTATATATATATATACACATATATATATATATATATATATATATA TATATATACACATATATATATAAA	ZNF470	ENSG00000197016.12	transcript	ENST00000330619.13	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF470_chr19_56562468_56587894	56572389	T T	TATATGTA others(97): Show TATATGTATATATATATATACACATATATATATATGTATATATATATATA CACATATATATATATATATATATATATATATATATATATACACATATATA TATAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp2 HG02280.hp1 HG02622.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0022 a0002c0003t0002 a0002c0003t0022	a0002c0003t0002g0067 a0002c0003t0022g0126 a0002c0003t0002g0067 a0002c0003t0022g0126	2	250	0.0080	104	c.61- others(119): Show c.61-2004_61-2003insTATGTATATATATATATACACATATATATA TATGTATATATATATATACACATATATATATATATATATATATATATATA TATATATACACATATATATATAAA	ZNF470	ENSG00000197016.12	transcript	ENST00000330619.13	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF544_chr19_58223914_58268644	58241179	A A	AAATATAT others(97): Show AAATATATATATATATTTAAATATATATATATTTAAATATATATATATAT TTAAATATATATATATATATATATATATATATATATATATATATATATTT TTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0205 a0003c0003t0004g0205	1	245	0.0041	104	c.-59 others(121): Show c.-59-2786_-59-2785insAATATATATATATATTTAAATATATATA TATTTAAATATATATATATATTTAAATATATATATATATATATATATATA TATATATATATATATATATTTTTTTT	ZNF544	ENSG00000198131.15	transcript	ENST00000687789.1	protein_coding	3/6			chr19	TogoVar
ZNF681_chr19_23734195_23763891	23761901	A A	ATTCTTTC others(97): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTC TCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18981.hp2 NA19083.hp1 NA18956.hp1 NA18981.hp2 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0003 a0002c0002t0001g0050 a0002c0002t0003g0182 a0002c0002t0001g0003 a0002c0002t0001g0050 a0002c0002t0003g0182	3	289	0.0104	104	c.-31 others(115): Show c.-3153_-3152insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAA	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3011		chr19	TogoVar
ZNF681_chr19_23734195_23763891	23761901	A A	ATTCTTTC others(97): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 NA19077.hp1 NA19079.hp2 HG02071.hp1 NA19077.hp1 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	3	289	0.0104	104	c.-31 others(115): Show c.-3153_-3152insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAAAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAA	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3011		chr19	TogoVar
ZNF681_chr19_23734195_23763891	23761901	A A	ATTCTTTC others(97): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	287	0.0035	104	c.-31 others(115): Show c.-3153_-3152insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA AGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAA	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3011		chr19	TogoVar
ZNF681_chr19_23734195_23763891	23761902	T T	TTCTTTCT others(97): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCT CTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0191 a0002c0002t0003g0191	1	383	0.0026	104	c.-31 others(115): Show c.-3154_-3153insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGA	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3012		chr19	TogoVar
ZNF717_chr3_75730868_75790549	75779552	A A	AAACCCAA others(97): Show AAACCCAAAACAACGGGAGTGACGTGCTAAAACCGCAACCCAAAACACTG GGAGAGATGTGCTAAACAGGAACCCAAAACAATGGGAGTGACGTGCTAAA ACCAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0046 a0004c0004t0004g0046	1	349	0.0029	104	c.57+ others(119): Show c.57+3650_57+3753dupCTGGTTTTAGCACGTCACTCCCATTGTTTT GGGTTCCTGTTTAGCACATCTCTCCCAGTGTTTTGGGTTGCGGTTTTAGC ACGTCACTCCCGTTGTTTTGGGTT	ZNF717	ENSG00000227124.11	transcript	ENST00000652011.2	protein_coding	2/4			chr3	TogoVar
ZNF804B_chr7_88754700_89343528	89220150	C C	CATGTATA others(97): Show CATGTATATACGCACATATATATGTGCGTGTATATACATGTATATACGCA CATATATATGTGTGTATATACATGTATATACACACACATATATATGTGCG TATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0022 a0022	a0022c0019 a0022c0019	a0022c0019t0003 a0022c0019t0003	a0022c0019t0003g0053 a0022c0019t0003g0053	1	102	0.0098	104	c.249 others(121): Show c.249+1857_249+1858insGTATATACGCACATATATATGTGCGTGT ATATACATGTATATACGCACATATATATGTGTGTATATACATGTATATAC ACACACATATATATGTGCGTATATAT	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104862701	G G	GGCCGGCC others(98): Show GGCCGGCCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCAC CCCCACCCCCACCCCCCACCCCCCACCCCCACCCCCACCCCCCACCCCCA CCCCCA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0034 a0034	a0034c0045 a0034c0045	a0034c0045t0002 a0034c0045t0002	a0034c0045t0002g0298 a0034c0045t0002g0298	1	90	0.0111	105	c.422 others(120): Show c.422-902_422-901insTGGGGGTGGGGGTGGGGGGTGGGGGTGGGG GTGGGGGGTGGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGG GTGGGGGTGGGGGTGGGGGGCCGGC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA7_chr19_1035107_1070572	1049472	C C	CCACCACT others(98): Show CCACCACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCGTGAACCCC CCCACCACTCCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCC CCCCCA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0001 a0015c0016t0001	a0015c0016t0001g0024 a0015c0016t0001g0024	1	15	0.0667	105	c.255 others(120): Show c.2552+36_2552+37insACCACTCCCTCCCCGTGAGGCCCCCACCAC TCCCTCCCCGTGAACCCCCCCACCACTCCCCTCCCCGTGAACCCCCCACC ACTCCCTCCCCGTGAGCCCCCCCAC	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1049822	C C	CCCCCCGA others(98): Show CCCCCCGACCGCTCCCTCCCTGTGAGTCCCCCGACCACTCCCTCCCTTTG AGCCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCC CATGAA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0017 a0017	a0017c0014 a0017c0014	a0017c0014t0002 a0017c0014t0002	a0017c0014t0002g0025 a0017c0014t0002g0025	1	23	0.0435	105	c.255 others(122): Show c.2552+390_2552+391insGACCGCTCCCTCCCTGTGAGTCCCCCGA CCACTCCCTCCCTTTGAGCCCCCCCGGACCACTCCCTCCCCGTGAGGCCC CCCACCACTCCCTCCCCATGAACCCCC	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CTCTCTCT others(98): Show CTCTCTCTCTCTCTCTCTGTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0108 a0001c0002t0006g0108	1	104	0.0096	105	c.49- others(120): Show c.49-7977_49-7976insCTCTCTCTCTCTCTGTCTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC4_chr13_95014835_95306451	95244644	A A	AGGAAGGA others(98): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAACGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0019 a0001c0007t0019	a0001c0007t0019g0026 a0001c0007t0019g0026	1	155	0.0065	105	c.306 others(122): Show c.306+2330_306+2331insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCGTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244648	A A	AGGAAGGA others(98): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAC GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0016 a0001c0012t0016	a0001c0012t0016g0119 a0001c0012t0016g0119	1	142	0.0070	105	c.306 others(122): Show c.306+2326_306+2327insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCGTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244648	A A	AGGAAGGA others(98): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAACGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0073 a0001c0023t0003g0073	1	142	0.0070	105	c.306 others(122): Show c.306+2326_306+2327insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCGTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244648	A A	AGGAAGGA others(98): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAACGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0077 a0001c0003t0005g0077	1	142	0.0070	105	c.306 others(122): Show c.306+2326_306+2327insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCGTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244652	A A	AGAAAGGA others(98): Show AGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAACGAAGGAAGGAAGGA AGGAAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0006 a0001c0013t0006	a0001c0013t0006g0029 a0001c0013t0006g0029	1	212	0.0047	105	c.306 others(122): Show c.306+2322_306+2323insCTTCCTTCCTTCCTTCCTTCGTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244652	A A	AGGAAGGA others(98): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAACGAAGGAAGGAAGGAAGGAAGGA AGGAAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0022 a0001c0003t0002g0022	1	212	0.0047	105	c.306 others(122): Show c.306+2322_306+2323insCTTCCTTCCTTCCTTCCTTCCTTCCTTC GTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABHD18_chr4_127960406_128044953	128028300	G G	GGATTTCC others(98): Show GGATTTCCTTTTAAGGAATCCTTTTATTTATTTATTTATTTATTTATTTA TTTATTTATTATTTATTATTTATTTATTTATTTATTTATTATTATTTATT TATTTA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0264 a0001c0001t0025g0264	1	340	0.0029	105	c.802 others(120): Show c.802-175_802-174insGATTTCCTTTTAAGGAATCCTTTTATTTAT TTATTTATTTATTTATTTATTTATTTATTATTTATTATTTATTTATTTAT TTATTTATTATTATTTATTTATTTA	ABHD18	ENSG00000164074.17	transcript	ENST00000645843.2	protein_coding	10/12			chr4	TogoVar
ABR_chr17_998519_1184981	1072355	G G	GTGCCGCC others(98): Show GTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGT GAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGA GGGACC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG02818.hp2 others(2): Show HG00280.hp2 HG00323.hp1 HG02818.hp2 NA18950.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0001 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0006g0085 others(2): Show a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0006g0085 a0001c0001t0006g0095 a0001c0001t0007g0281	5	43	0.1163	105	c.894 others(120): Show c.894+154_894+258dupGGTCCCTCGTCCCCTTCTCTCACACACGGG CGGCAGGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGT CCCCTTCTCTCACACACGGGCGGCA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	8/22			chr17	TogoVar
ABR_chr17_998519_1184981	1072564	C C	CCTGCCGC others(98): Show CCTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTG TGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACG AGGGAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	325	0.0031	105	c.894 others(118): Show c.894+49_894+50insATCCCTCGTCCCCTTCTCTCACACACGGGCGG CAGGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGTCCC CTTCTCTCACACACGGGCGGCAG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	8/22			chr17	TogoVar
ABR_chr17_998519_1184981	1163555	A A	AAAGTGTC others(98): Show AAAGTGTCACACACAGCACTGAATCCAGACGCAGGGACCCCAGATAAACT GCAAGACGCCCAGTGAACATGGATGTCGGAGCATCTAGGTAGGACAGACC CTGGCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01099.hp2 HG01261.hp2 others(2): Show HG00733.hp2 HG01099.hp2 HG01261.hp2 HG03669.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0081 a0001c0001t0001g0134 a0001c0001t0002g0080 others(2): Show a0001c0001t0001g0081 a0001c0001t0001g0134 a0001c0001t0002g0080 a0001c0001t0003g0059 a0001c0001t0004g0269	5	334	0.0150	105	c.61+ others(122): Show c.61+16111_61+16112insGGCCAGGGTCTGTCCTACCTAGATGCTC CGACATCCATGTTCACTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGT CTGGATTCAGTGCTGTGTGTGACACTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1163995	G G	GCCCCAGA others(98): Show GCCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGGATCT AGGTAGGACGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACG CAGGGA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA19060.hp1 NA18940.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0157 a0001c0001t0006g0207 a0001c0001t0001g0157 a0001c0001t0006g0207	2	327	0.0061	105	c.61+ others(122): Show c.61+15671_61+15672insTCCCTGCGTCTGGATTCAGTGCTGTGTG TGACACTTTGCCAGGGTCCGTCCTACCTAGATCCTCCGACATCCATGTTC ACTGGGCGTCTTGCAGTTTATCTGGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACACA_chr17_37079992_37411836	37099530	A A	AGGAGGGC others(98): Show AGGAGGGCTGATGGGAGGAGGGCTGATGGCGGGAGGGCTGAGGGATGGAG GGCTGATGGCGGGAGGGCTGATGGCGGGAGGGCTGATGGCAGGAGGGCTG ATGGCG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 NA18966.hp1 others(6): Show HG03491.hp2 HG03492.hp2 NA18966.hp1 NA18970.hp1 NA18980.hp2 NA18991.hp1 NA18999.hp1 NA19068.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0007t0003 a0001c0001t0003 a0001c0007t0003	a0001c0001t0003g0112 a0001c0001t0003g0121 a0001c0001t0003g0122 others(6): Show a0001c0001t0003g0112 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0145 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0007t0003g0068	9	183	0.0492	105	c.656 others(124): Show c.6566-1547_6566-1546insCGCCATCAGCCCTCCTGCCATCAGCC CTCCCGCCATCAGCCCTCCCGCCATCAGCCCTCCATCCCTCAGCCCTCCC GCCATCAGCCCTCCTCCCATCAGCCCTCC	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	52/55			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75967671	C C	CGTATATA others(98): Show CGTATATATACACGTATATATATATACTATATATATACGTGTATATATAT ATACATATATATATACACGTGTATATATATACACGTATATATATATACAC GTATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0300 a0001c0001t0005g0300	1	340	0.0029	105	c.270 others(122): Show c.270-7297_270-7296insATATACGTGTATATATATATACGTGTAT ATATATACACGTGTATATATATATGTATATATATATACACGTATATATAT AGTATATATATATACGTGTATATATAC	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar

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