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
ANO5_chr11_22188085_22288357	22269248	AAAGAAAG others(74): Show AAAGAAAGAGAAGGAAAAGGGAAGGGAAGGGAAGAGAAGGGAAGAAGGAA AGAAGAAAGGAAGGAAGGAAGGAGAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0233 a0002c0003t0003g0233	1	364	0.0028	-81	c.189 others(99): Show c.1899-1061_1899-981delGAAAGAGAAGGAAAAGGGAAGGGAAGG GAAGAGAAGGGAAGAAGGAAAGAAGAAAGGAAGGAAGGAAGGAGAAAAAA AGAA	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP3D1_chr19_2095988_2156566	2128862	GCCCCCGC others(74): Show GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCG CTCCAACACTGCACCCCGTGGAGCCGGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01168.hp1 HG01168.hp2 others(10): Show HG00140.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01952.hp2 HG02015.hp2 HG03669.hp2 HG04199.hp1 HG06807.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 a0001c0010t0001	a0001c0001t0001g0093 a0001c0001t0001g0121 a0001c0001t0001g0130 others(9): Show a0001c0001t0001g0093 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0142 a0001c0001t0001g0179 a0001c0002t0001g0003 a0001c0002t0001g0252 a0001c0002t0001g0259 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0005t0002g0025 a0001c0010t0001g0293	13	406	0.0320	-81	c.806 others(96): Show c.806+147_806+227delGCGGGCCGGCTCCACGGGGTGCAGTGTTGG AGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGG G	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP4E1_chr15_50903683_51010895	50907086	GAGCGGGC others(74): Show GAGCGGGCTGCTCAAAGGTGAGACAGCATGCACTGACACTGGGGAAACTC CCTTTGTAGGAGTCTCACAGGATCATTCATGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03041.hp1 HG01891.hp1 HG03041.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0011 a0005c0007t0011	a0005c0007t0011g0184 a0005c0007t0011g0185 a0005c0007t0011g0184 a0005c0007t0011g0185	2	392	0.0051	-81	c.-16 others(92): Show c.-1692_-1612delAGCGGGCTGCTCAAAGGTGAGACAGCATGCACTG ACACTGGGGAAACTCCCTTTGTAGGAGTCTCACAGGATCATTCATGA	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding		1596		chr15	TogoVar
ARF4_chr3_57566363_57602344	57569693	ATGGTGGC others(74): Show ATGGTGGCTCATGCCTGTAGTACCAGCTACTTGTGGGGCTGAGATGGGAG GATCACTTGAGCCCAGGAAGTAAAGGTTTCGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	358	0.0028	-81	c.24 others(92): Show c.2438_*2518delCCGAAACCTTTACTTCCTGGGCTCAAGTGATCCT CCCATCTCAGCCCCACAAGTAGCTGGTACTACAGGCATGAGCCACCA	ARF4	ENSG00000168374.11	transcript	ENST00000303436.11	protein_coding		1669		chr3	TogoVar
ARHGAP24_chr4_85470150_86007666	85487145	CTTGTGTG others(74): Show CTTGTGTGTATATATATATAAATATATATTTATTTTATATATATAAAAAT ATATATTTATTTTATATATATAAAAATATATA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0070 a0001c0005t0019g0070	1	108	0.0093	-81	c.-21 others(100): Show c.-21+11589_-21+11669delGTGTGTATATATATATAAATATATAT TTATTTTATATATATAAAAATATATATTTATTTTATATATATAAAAATAT ATATT	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF18_chr19_7343937_7477478	7362002	AAGAAGAA others(74): Show AAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02145.hp1 NA20129.hp1 HG01934.hp1 HG02145.hp1 NA20129.hp1	a0002 a0012 a0002 a0012	a0002c0033 a0012c0020 a0002c0033 a0012c0020	a0002c0033t0010 a0012c0020t0002 a0002c0033t0010 a0012c0020t0002	a0002c0033t0010g0264 a0012c0020t0002g0257 a0012c0020t0002g0265 a0002c0033t0010g0264 a0012c0020t0002g0257 a0012c0020t0002g0265	3	298	0.0101	-81	c.-11 others(98): Show c.-110-773_-110-693delAAGAAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAG	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARSH_chrX_3001546_3039111	3036867	TTATATAA others(74): Show TTATATAAAATATATATAATATATATATATTATATATATTATATATAATA TTATATATAATATATATAATATATATATATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	248	0.0040	-81	c.34 others(92): Show c.3483_*3563delTATATAAAATATATATAATATATATATATTATAT ATATTATATATAATATTATATATAATATATATAATATATATATATTA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2757		chrX	TogoVar
ASAP1_chr8_130047104_130448674	130049651	GGAGAACA others(74): Show GGAGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACAC ATGGGGGCAGAGGGGAACACATGGAGGGCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	308	0.0033	-81	c.49 others(92): Show c.4999_*5079delTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATGT GTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2452		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050188	GGGGAATA others(74): Show GGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACA CATGGGGGGCAGAGGGGAACACGGGGGGAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0153 a0001c0001t0014g0153	1	308	0.0033	-81	c.44 others(92): Show c.4462_*4542delTCTTCCCCCCGTGTTCCCCTCTGCCCCCCATGTG TTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1915		chr8	TogoVar
ASAP2_chr2_9201812_9410678	9214515	TAGGCGTG others(74): Show TAGGCGTGAGCCGCTGCGCCCGGCTGCCTTTCCAGGTGCTTTTATACCAT TATCGTTTTTATCATGTCAACAATGTCTTGGA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0047 a0001c0009t0004g0047	1	210	0.0048	-81	c.126 others(98): Show c.126+7287_126+7367delGGCGTGAGCCGCTGCGCCCGGCTGCCTT TCCAGGTGCTTTTATACCATTATCGTTTTTATCATGTCAACAATGTCTTG GAA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASMTL_chrX_1398139_1457909	1402810	TCTTCCCC others(74): Show TCTTCCCCTCCTCCCCGAATGCAGCCTCCTTCCCCTCCTCCCCGAATGCA GCCTCCTTCCCCTCCTCCCCGAATGCAGCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0068 a0001c0012t0001g0068	1	185	0.0054	-81	c.37 others(90): Show c.378_*458delGAGGCTGCATTCGGGGAGGAGGGGAAGGAGGCTGCA TTCGGGGAGGAGGGGAAGGAGGCTGCATTCGGGGAGGAGGGGAAG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		328		chrX	TogoVar
ASMT_chrX_1610059_1648081	1636890	TCATGAGG others(74): Show TCATGAGGATGTGGGCACAGCCTCTGTGTGTGATGGGGACAGTGTCCCAG CTCTCCTGTGAGGTCCATCCATCCTGATGGCA	T T	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02615.hp2 HG02818.hp2 others(10): Show HG01516.hp2 HG02615.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG03540.hp1 HG03704.hp2 HG03831.hp2 NA18906.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0004c0004t0004	a0001c0001t0001g0006 a0001c0001t0002g0135 a0001c0001t0002g0195 others(10): Show a0001c0001t0001g0006 a0001c0001t0002g0135 a0001c0001t0002g0195 a0001c0001t0003g0090 a0001c0003t0001g0022 a0001c0003t0001g0171 a0002c0002t0001g0009 a0002c0002t0001g0015 a0002c0002t0001g0074 a0002c0002t0002g0183 a0002c0002t0002g0199 a0002c0002t0002g0216 a0004c0004t0004g0148	13	223	0.0583	-81	c.910 others(96): Show c.910+444_910+524delTGGGGACAGTGTCCCAGCTCTCCTGTGAGG TCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTG A	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATCAY_chr19_3875685_3933082	3906682	AGGCGACC others(74): Show AGGCGACCAAGATCCCAACAAACTGCCCTCGATGTATGCAACAAATACTT TTTGACCATTTACTCCAGGGCAAGTCCTGATT	A A	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	384	0.0026	-81	c.358 others(97): Show c.358+1028_359-971delGGCGACCAAGATCCCAACAAACTGCCCTC GATGTATGCAACAAATACTTTTTGACCATTTACTCCAGGGCAAGTCCTGA TT	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	4/12			chr19	TogoVar
ATF7IP2_chr16_10381061_10488638	10485872	CTAGTTGC others(74): Show CTAGTTGCAATAAACAACCTTTTCCACCAGATCTAATCAGTAGTTCACAT CTGTTCTCCTGGTCACCTGCTCTGACCTGAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0240 a0001c0003t0004g0240	1	376	0.0027	-81	c.36 others(92): Show c.3624_*3704delTAGTTGCAATAAACAACCTTTTCCACCAGATCTA ATCAGTAGTTCACATCTGTTCTCCTGGTCACCTGCTCTGACCTGAGT	ATF7IP2	ENSG00000166669.14	transcript	ENST00000562102.6	protein_coding		2235		chr16	TogoVar
ATP10B_chr5_160558120_160857211	160783382	TATATATA others(74): Show TATATATATATATGTGATGGATATATCTATCCATGGATATATCCATGGAT AGATATATCCATCACATATATATATATATATC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0125	1	236	0.0042	-81	c.-33 others(100): Show c.-331+2096_-331+2176delGATATATATATATATATGTGATGGAT ATATCTATCCATGGATATATCCATGGATAGATATATCCATCACATATATA TATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	2/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112761550	ATGCCCTG others(74): Show ATGCCCTGGGGTCTTGGAAGCACCCCTGAGGATAAAGGGGACATCGTGCA CATAGGTTTGGGTACTATCTCGGATTCAGGAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG01243.hp1 HG02258.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0015 a0001c0002 a0004c0015	a0001c0002t0047 a0004c0015t0002 a0001c0002t0047 a0004c0015t0002	a0001c0002t0047g0112 a0004c0015t0002g0052 a0001c0002t0047g0112 a0004c0015t0002g0052	2	254	0.0079	-81	c.40- others(98): Show c.40-23583_40-23503delGCCCTGGGGTCTTGGAAGCACCCCTGAG GATAAAGGGGACATCGTGCACATAGGTTTGGGTACTATCTCGGATTCAGG AGT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112761552	GCCCTGGG others(74): Show GCCCTGGGGTCTTGGAAGCACCCCTGAGGATAAAGGGGACATCGTGCACA TAGGTTTGGGTACTATCTCGGATTCAGGAGTC	G G	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0191 a0001c0002t0012g0191	1	254	0.0039	-81	c.40- others(98): Show c.40-23570_40-23490delGGAAGCACCCCTGAGGATAAAGGGGACA TCGTGCACATAGGTTTGGGTACTATCTCGGATTCAGGAGTCCCCTGGGGT CTT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112761565	GGAAGCAC others(74): Show GGAAGCACCCCTGAGGATAAAGGGGACATCGTGCACATAGGTTTGGGTAC TATCTCGGATTCAGGAGTCCCCTGGGGTCTTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(118): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02647.hp1 HG02647.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18974.hp2 NA18978.hp1 NA19002.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19064.hp1 NA19065.hp2 NA19074.hp1 NA19077.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0007 a0010 a0014	a0001c0001 a0001c0002 a0001c0004 others(20): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0001c0013 a0001c0014 a0001c0016 a0001c0022 a0001c0028 a0001c0029 a0002c0003 a0002c0010 a0003c0007 a0003c0008 a0003c0012 a0005c0032 a0006c0035 a0007c0034 a0010c0037 a0014c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(60): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0072 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0012 a0001c0002t0014 a0001c0002t0016 a0001c0002t0018 a0001c0002t0059 a0001c0002t0070 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0006 a0001c0004t0028 a0001c0004t0029 a0001c0004t0042 a0001c0005t0001 a0001c0005t0002 a0001c0005t0020 a0001c0005t0061 a0001c0005t0071 a0001c0006t0001 a0001c0006t0004 a0001c0009t0003 a0001c0009t0004 a0001c0009t0049 a0001c0011t0001 a0001c0013t0004 a0001c0014t0003 a0001c0014t0043 a0001c0016t0004 a0001c0022t0001 a0001c0028t0002 a0001c0029t0051 a0002c0003t0001 a0002c0003t0002 a0002c0003t0007 a0002c0003t0009 a0002c0003t0025 a0002c0003t0027 a0002c0003t0033 a0002c0010t0001 a0002c0010t0010 a0002c0010t0022 a0002c0010t0040 a0003c0007t0005 a0003c0007t0011 a0003c0008t0005 a0003c0008t0008 a0003c0008t0011 a0003c0012t0005 a0005c0032t0001 a0006c0035t0001 a0007c0034t0031 a0010c0037t0001 a0014c0036t0062	a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(118): Show a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0001g0108 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0181 a0001c0001t0001g0193 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0244 a0001c0001t0002g0050 a0001c0001t0002g0206 a0001c0001t0010g0122 a0001c0001t0021g0240 a0001c0001t0022g0202 a0001c0001t0026g0227 a0001c0001t0072g0006 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0030 a0001c0002t0002g0190 a0001c0002t0003g0198 a0001c0002t0006g0014 a0001c0002t0012g0026 a0001c0002t0012g0028 a0001c0002t0014g0213 a0001c0002t0016g0209 a0001c0002t0018g0189 a0001c0002t0059g0201 a0001c0002t0070g0199 a0001c0004t0001g0017 a0001c0004t0001g0224 a0001c0004t0002g0195 a0001c0004t0002g0208 a0001c0004t0003g0034 a0001c0004t0003g0049 a0001c0004t0003g0079 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0004t0006g0203 a0001c0004t0006g0228 a0001c0004t0028g0246 a0001c0004t0029g0060 a0001c0004t0042g0057 a0001c0005t0001g0223 a0001c0005t0002g0094 a0001c0005t0020g0144 a0001c0005t0020g0247 a0001c0005t0061g0129 a0001c0005t0071g0125 a0001c0006t0001g0070 a0001c0006t0001g0077 a0001c0006t0001g0135 a0001c0006t0001g0184 a0001c0006t0001g0194 a0001c0006t0004g0036 a0001c0006t0004g0114 a0001c0009t0003g0218 a0001c0009t0004g0140 a0001c0009t0049g0141 a0001c0011t0001g0139 a0001c0013t0004g0035 a0001c0013t0004g0083 a0001c0013t0004g0084 a0001c0014t0003g0178 a0001c0014t0043g0056 a0001c0016t0004g0214 a0001c0016t0004g0215 a0001c0022t0001g0196 a0001c0028t0002g0136 a0001c0029t0051g0046 a0002c0003t0001g0137 a0002c0003t0001g0236 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0089 a0002c0003t0002g0118 a0002c0003t0002g0119 a0002c0003t0002g0183 a0002c0003t0002g0192 a0002c0003t0002g0238 a0002c0003t0002g0248 a0002c0003t0007g0185 a0002c0003t0009g0143 a0002c0003t0009g0226 a0002c0003t0009g0232 a0002c0003t0009g0242 a0002c0003t0025g0241 a0002c0003t0027g0233 a0002c0003t0033g0031 a0002c0010t0001g0200 a0002c0010t0001g0239 a0002c0010t0010g0222 a0002c0010t0022g0072 a0002c0010t0040g0221 a0003c0007t0005g0177 a0003c0007t0011g0025 a0003c0008t0005g0249 a0003c0008t0008g0245 a0003c0008t0011g0020 a0003c0012t0005g0188 a0003c0012t0005g0207 a0003c0012t0005g0235 a0003c0012t0005g0243 a0005c0032t0001g0234 a0006c0035t0001g0187 a0007c0034t0031g0075 a0010c0037t0001g0076 a0014c0036t0062g0204	121	254	0.4764	-81	c.40- others(98): Show c.40-23504_40-23424delGTCCCCTGGGGTCTTAGAAGCACCCCTG AGGATAAAGGGGACATCGTGCACATAGGTTTGGGTACTATCTCGGATTCA GGA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP1A1_chr1_116368244_116409774	116369410	GAAAAAAA others(74): Show GAAAAAAAAAAAGAAAGAAAGAAATGGCTCGGCTGCGCTCCATTCTGGGG CGATAGAGCGAGACTCCGTCTCAAAACAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01070.hp2 HG02451.hp1 others(8): Show HG01069.hp2 HG01070.hp2 HG02451.hp1 HG02622.hp2 HG02647.hp2 HG02976.hp1 HG06807.hp1 NA18941.hp1 NA18955.hp1 NA18991.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0002 a0001c0002t0002 a0001c0008t0004 a0001c0001t0002 a0001c0002t0002 a0001c0008t0004	a0001c0001t0002g0038 a0001c0001t0002g0056 a0001c0001t0002g0131 others(6): Show a0001c0001t0002g0038 a0001c0001t0002g0056 a0001c0001t0002g0131 a0001c0001t0002g0174 a0001c0002t0002g0006 a0001c0002t0002g0078 a0001c0002t0002g0160 a0001c0002t0002g0170 a0001c0008t0004g0050	11	336	0.0327	-81	c.-41 others(92): Show c.-4101_-4021delAAAAAAAAAAAGAAAGAAAGAAATGGCTCGGCTG CGCTCCATTCTGGGGCGATAGAGCGAGACTCCGTCTCAAAACAAAGA	ATP1A1	ENSG00000163399.16	transcript	ENST00000295598.10	protein_coding		3833		chr1	TogoVar
ATP6V1H_chr8_53710543_53848245	53840040	ATTCCCAA others(74): Show ATTCCCAAGGCTGCTCCTACTTGCCACATGGCTAAATACCCATCATCCTC AAAAACTCAGTTCAGGGACCAGCCCCTTCAGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	286	0.0035	-81	c.113 others(98): Show c.113+1457_113+1537delCCTGAAGGGGCTGGTCCCTGAACTGAGT TTTTGAGGATGATGGGTATTTAGCCATGTGGCAAGTAGGAGCAGCCTTGG GAA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	2/13			chr8	TogoVar
BCAS3_chr17_60672851_61397831	61267198	CAGGCATC others(74): Show CAGGCATCTGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGAC GAGGTTTCACCGTGTTAGCCAGGATGGTCTCG	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02970.hp1 HG03041.hp2 others(2): Show HG02886.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0003 others(1): Show a0001c0002 a0001c0004 a0002c0003 a0002c0005	a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 others(2): Show a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0002c0003t0003 a0002c0005t0001	a0001c0002t0002g0064 a0001c0004t0001g0049 a0001c0004t0002g0044 others(2): Show a0001c0002t0002g0064 a0001c0004t0001g0049 a0001c0004t0002g0044 a0002c0003t0003g0013 a0002c0005t0001g0018	5	74	0.0676	-81	c.242 others(104): Show c.2426-101127_2426-101047delGGCATCTGCCACCATGCCCAGC TAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGA TGGTCTCGA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCL11A_chr2_60452194_60558654	60467369	GTGATGAT others(74): Show GTGATGATGGTGATGGTACTGGTGGTGATGGTGATGGTGATGGTACTGGT GATGGTGGTGGTGGTAGTGATGGTGGTGGTAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG01071.hp2 others(13): Show HG00280.hp1 HG00735.hp2 HG01071.hp2 HG01496.hp2 HG01934.hp2 HG01978.hp1 HG02071.hp1 HG02132.hp2 HG02280.hp2 HG02293.hp1 HG02965.hp2 HG02976.hp2 HG04115.hp1 NA18994.hp2 NA19006.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0024 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0041 a0001c0004t0058 a0001c0004t0062	a0001c0001t0001g0031 a0001c0001t0002g0110 a0001c0001t0006g0239 others(13): Show a0001c0001t0001g0031 a0001c0001t0002g0110 a0001c0001t0006g0239 a0001c0001t0009g0195 a0001c0001t0024g0237 a0001c0003t0002g0103 a0001c0003t0002g0104 a0001c0003t0002g0131 a0001c0003t0002g0143 a0001c0003t0003g0155 a0001c0003t0003g0164 a0001c0003t0003g0184 a0001c0003t0004g0079 a0001c0003t0041g0135 a0001c0004t0058g0206 a0001c0004t0062g0235	16	262	0.0611	-81	c.487 others(98): Show c.487+1282_487+1362delTTACCACCACCATCACTACCACCACCAC CATCACCAGTACCATCACCATCACCATCACCACCAGTACCATCACCATCA TCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467402	ATGGTGAT others(74): Show ATGGTGATGGTACTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAAT GGTGGTGGTGGTGATGGTGGTGGTAATGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG02818.hp1 others(3): Show HG02572.hp2 HG02809.hp2 HG02818.hp1 HG03130.hp1 HG03471.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0018 a0001c0001t0021 others(3): Show a0001c0001t0005 a0001c0001t0018 a0001c0001t0021 a0001c0001t0032 a0001c0001t0064 a0001c0001t0065	a0001c0001t0005g0219 a0001c0001t0018g0211 a0001c0001t0021g0093 others(3): Show a0001c0001t0005g0219 a0001c0001t0018g0211 a0001c0001t0021g0093 a0001c0001t0032g0037 a0001c0001t0064g0247 a0001c0001t0065g0251	6	262	0.0229	-81	c.487 others(98): Show c.487+1249_487+1329delCCACCATTACCACCACCATCACCACCAC CACCATTACCACCACCATCACTACCACCACCACCATCACCAGTACCATCA CCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467468	GTGGTGGT others(74): Show GTGGTGGTAATGGTGGTGGTGGTGATGGTGGTGATGATGGTGATGGTACT GGTGGTGATGGTGATGGTGATGGTACTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG01256.hp2 others(5): Show HG00099.hp1 HG00099.hp2 HG01256.hp2 HG03654.hp1 HG03710.hp2 HG04228.hp1 NA19065.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0051 a0001c0001t0052 a0001c0002t0001	a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0004g0082 others(5): Show a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0004g0082 a0001c0001t0010g0057 a0001c0001t0051g0159 a0001c0001t0052g0166 a0001c0002t0001g0048 a0001c0002t0001g0062	8	262	0.0305	-81	c.487 others(98): Show c.487+1183_487+1263delTCACCAGTACCATCACCATCACCATCAC CACCAGTACCATCACCATCATCACCACCATCACCACCACCACCATTACCA CCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BMPR1B_chr4_94752955_95163448	94832049	TACAATGT others(74): Show TACAATGTAATATTAATAATAATAAAGTGCACAATAAATGTAATACACTT GAATCATCCCCAAACCATCCCCCTACACTCCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA20805.hp1 HG02257.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0169 a0001c0001t0002g0144 a0001c0001t0002g0169	2	226	0.0089	-81	c.-18 others(102): Show c.-182-43779_-182-43699delAATGTAATATTAATAATAATAAAG TGCACAATAAATGTAATACACTTGAATCATCCCCAAACCATCCCCCTACA CTCCCAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95116164	TAAAGGGC others(74): Show TAAAGGGCTAAATTAAACATTATTTGCTATATGGCATTTCCTTTTTTTAT GCTAGAGTAACACCTTTTAGTCAAATCGTATC	T T	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	226	0.0044	-81	c.349 others(96): Show c.349+380_349+460delAGGGCTAAATTAAACATTATTTGCTATATG GCATTTCCTTTTTTTATGCTAGAGTAACACCTTTTAGTCAAATCGTATCA A	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BPI_chr20_38299156_38342505	38313721	GTGATGAT others(74): Show GTGATGATGGTGATGGTGAGGATGATAATGGTGATGGTGATGACGGTGAT GGTGAGGTTGATGATGGTGATGGTGGGGATGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00733.hp1 others(23): Show HG00423.hp2 HG00558.hp2 HG00733.hp1 HG00735.hp1 HG01192.hp2 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG02027.hp1 HG02027.hp2 HG02074.hp1 HG02572.hp2 HG02683.hp2 HG02698.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp2 HG03834.hp2 HG04204.hp1 NA18747.hp2 NA18941.hp1 NA18950.hp2 NA19002.hp1 NA19076.hp1 NA19079.hp2	a0007 a0023 a0024 others(3): Show a0007 a0023 a0024 a0034 a0039 a0040	a0007c0007 a0023c0029 a0024c0030 others(3): Show a0007c0007 a0023c0029 a0024c0030 a0034c0054 a0039c0053 a0040c0052	a0007c0007t0001 a0007c0007t0002 a0023c0029t0002 others(4): Show a0007c0007t0001 a0007c0007t0002 a0023c0029t0002 a0024c0030t0001 a0034c0054t0001 a0039c0053t0001 a0040c0052t0002	a0007c0007t0001g0035 a0007c0007t0001g0203 a0007c0007t0001g0207 others(19): Show a0007c0007t0001g0035 a0007c0007t0001g0203 a0007c0007t0001g0207 a0007c0007t0001g0208 a0007c0007t0001g0210 a0007c0007t0001g0211 a0007c0007t0001g0215 a0007c0007t0001g0290 a0007c0007t0002g0010 a0007c0007t0002g0026 a0007c0007t0002g0034 a0007c0007t0002g0205 a0007c0007t0002g0206 a0007c0007t0002g0212 a0007c0007t0002g0213 a0023c0029t0002g0010 a0023c0029t0002g0133 a0024c0030t0001g0231 a0024c0030t0001g0232 a0034c0054t0001g0268 a0039c0053t0001g0209 a0040c0052t0002g0204	26	426	0.0610	-81	c.600 others(98): Show c.600+1827_600+1907delCGGTGATGGTGAGGTTGATGATGGTGAT GGTGGGGATGATGATGATGGTGATGGTGAGGATGATAATGGTGATGGTGA TGA	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
BTC_chr4_74739759_74799523	74777989	AGAGTAAT others(74): Show AGAGTAATTTCCAAGTCCAAAAAGAGACCCTATCTAACGTGGAGTTTGAA AAAAAAAATAGGGAGTGAAAATAATGTTTAAC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	360	0.0028	-81	c.65- others(96): Show c.65-7914_65-7834delGTTAAACATTATTTTCACTCCCTATTTTTT TTTTCAAACTCCACGTTAGATAGGGTCTCTTTTTGGACTTGGAAATTACT C	BTC	ENSG00000174808.12	transcript	ENST00000395743.8	protein_coding	1/5			chr4	TogoVar
C14orf119_chr14_23090505_23105456	23099182	CCAAAGAA others(74): Show CCAAAGAAAGTAGAAATTAAGTATACACAATAGATTTTCCATCCAGTTGT CTCACAAGAAATTATTCTCTTCCTTACCCCCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0049 a0001c0001t0034g0049	1	444	0.0023	-81	c.11 others(92): Show c.1102_*1182delCAAAGAAAGTAGAAATTAAGTATACACAATAGAT TTTCCATCCAGTTGTCTCACAAGAAATTATTCTCTTCCTTACCCCCT	C14orf119	ENSG00000179933.6	transcript	ENST00000319074.6	protein_coding	2/2	1102		chr14	TogoVar
C21orf58_chr21_46296130_46328870	46302788	GCCCGTCT others(74): Show GCCCGTCTGCACACGGTGCGGGTCCCCGGGGCGCGCCCTGAGCCCGTCTG CACACGGTGCGGGTCCCCGGGGCGCGCCCTGA	G G	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0180 a0002c0002t0001g0180	1	378	0.0027	-81	c.722 others(96): Show c.722-293_722-213delTCAGGGCGCGCCCCGGGGACCCGCACCGTG TGCAGACGGGCTCAGGGCGCGCCCCGGGGACCCGCACCGTGTGCAGACGG G	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding	6/7			chr21	TogoVar
C2orf74_chr2_61157188_61169828	61162042	CAGGCAAC others(74): Show CAGGCAACAGCCTCGTGGTTCTCCAGCCTCCAGGTGATGGACTGGGTTGG ACTGGCTCTCTGGTCTCTCTAACTCAAGGGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	-81	c.-37 others(90): Show c.-377_-297delAGGCAACAGCCTCGTGGTTCTCCAGCCTCCAGGTGA TGGACTGGGTTGGACTGGCTCTCTGGTCTCTCTAACTCAAGGGCT	C2orf74	ENSG00000237651.8	transcript	ENST00000432605.3	protein_coding		145		chr2	TogoVar
CAB39L_chr13_49303650_49449064	49318544	GGGAAAGG others(74): Show GGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG GAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18612.hp2 NA18969.hp1 others(2): Show HG02723.hp2 NA18612.hp2 NA18969.hp1 NA18988.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0176 a0001c0001t0002g0250 a0001c0001t0002g0253 others(2): Show a0001c0001t0002g0176 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0002t0002g0076 a0001c0002t0002g0243	5	324	0.0154	-81	c.835 others(98): Show c.835-7632_835-7552delTCCCTTTCCCTTTCCCTTTCCCTTTCCC TTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTT TCC	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CACNG4_chr17_66959707_67038398	66968527	GCCTCCTC others(74): Show GCCTCCTCTCCCCTCCCCTCCTCCTCTCCCTCCTCTCCCCTTCCCTCCTC CTCTCCCTCCTCTCCCCTCCCCTCCTCCTCTC	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0277 a0001c0001t0005g0277	1	352	0.0028	-81	c.220 others(98): Show c.220+3437_220+3517delTCCCTCCTCCTCTCCCTCCTCTCCCCTC CCCTCCTCCTCTCCCTCCTCTCCCCTCCCCTCCTCCTCTCCCTCCTCTCC CCT	CACNG4	ENSG00000075461.6	transcript	ENST00000262138.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNG7_chr19_53904278_53948950	53922174	GTCCCAGG others(74): Show GTCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTATTGGTGGAG TTGTCCCCAGGTCTGGTCATTGGTGGAGTTGT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	364	0.0028	-81	c.424 others(98): Show c.424+6670_424+6750delTCCCAGGCTGGTCATTGGTGGAGTTGCC CCAGGTCTGGTATTGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGGAGT TGT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CACNG8_chr19_53957937_53995215	53962554	TATTTATT others(74): Show TATTTATTAATTATTAGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTG GGATGGTGGGACGACTTTCTTGGGCAGAAGAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0140 a0001c0001t0140	a0001c0001t0140g0203 a0001c0001t0140g0203	1	394	0.0025	-81	c.-58 others(90): Show c.-588_-508delATTTATTAATTATTAGCGGTGGTGGGGACTCCTCCG AGTGGGGTTAGTGGGATGGTGGGACGACTTTCTTGGGCAGAAGAC	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		382		chr19	TogoVar
CADM2_chr3_84953989_86079429	85769109	TGTATATA others(74): Show TGTATATATACACATATATACATATATAGTATATATACACATATATACAT ATATAGTATATATACACATATATACATATATA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03491.hp2 HG03492.hp1 others(2): Show HG01099.hp1 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0019	a0001c0001t0003g0093 a0001c0001t0004g0105 a0001c0001t0012g0129 others(2): Show a0001c0001t0003g0093 a0001c0001t0004g0105 a0001c0001t0012g0129 a0001c0001t0019g0130 a0001c0001t0019g0131	5	146	0.0343	-81	c.89- others(98): Show c.89-32897_89-32817delTATATACATATATAGTATATATACACAT ATATACATATATAGTATATATACACATATATACATATATAGTATATATAC ACA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAMKK1_chr17_3855315_3898053	3867988	CACCGTCT others(74): Show CACCGTCTAACTGATACGCGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAA CTGATACACAGGATCTGGGGGAGAAGCAGGCG	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02818.hp1 NA18954.hp1 others(1): Show HG01346.hp1 HG02818.hp1 NA18954.hp1 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0002t0007 a0001c0002t0052 others(1): Show a0001c0002t0004 a0001c0002t0007 a0001c0002t0052 a0001c0003t0013	a0001c0002t0004g0122 a0001c0002t0007g0158 a0001c0002t0052g0183 others(1): Show a0001c0002t0004g0122 a0001c0002t0007g0158 a0001c0002t0052g0183 a0001c0003t0013g0135	4	446	0.0090	-81	c.134 others(100): Show c.1341+1418_1341+1498delCGCCTGCTTCTCCCCCAGATCCTGTG TATCAGTTAGACGGCGCCTGCTTCTCCCCCAGAGCCCGCGTATCAGTTAG ACGGT	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKK1_chr17_3855315_3898053	3868173	TGGGGGAG others(74): Show TGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGGGAGAA GCAGGCGCCGTCTAACTGATACGTGGGCTCTG	T T	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0072 a0002c0001t0002g0072	1	446	0.0022	-81	c.134 others(100): Show c.1341+1233_1341+1313delCAGAGCCCACGTATCAGTTAGACGGC GCCTGCTTCTCCCCCAGAGCCCACGTATCAGTTAGACGGCGCCTGCTTCT CCCCC	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAND1_chr12_67264358_67324953	67322011	TGAGTTAG others(74): Show TGAGTTAGAAAGTAAAGCTATCGTTTTTGTGTGTGACATAACCACACACC TAGGAAACCAAGAGAATCTAGCAAGAGAAAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0191 a0001c0001t0003g0191	1	328	0.0031	-81	c.91 others(92): Show c.9182_*9262delGAGTTAGAAAGTAAAGCTATCGTTTTTGTGTGTG ACATAACCACACACCTAGGAAACCAAGAGAATCTAGCAAGAGAAAAG	CAND1	ENSG00000111530.13	transcript	ENST00000545606.6	protein_coding		2059		chr12	TogoVar
CCDC146_chr7_77117615_77300204	77180085	ATACCATA others(74): Show ATACCATATATATGCACCCATATGTATGTACCATATATATGCACCCATAT GTATGTACCATATATATGCACCCATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19084.hp1 HG03225.hp1 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0007 a0003c0017 a0001c0007 a0003c0017	a0001c0007t0002 a0003c0017t0001 a0001c0007t0002 a0003c0017t0001	a0001c0007t0002g0030 a0003c0017t0001g0057 a0001c0007t0002g0030 a0003c0017t0001g0057	2	248	0.0081	-81	c.156 others(100): Show c.156+12360_156+12440delCATATGTATGTACCATATATATGCAC CCATATGTATGTACCATATATATGCACCCATATGTATGTACCATATATAT GCACC	CCDC146	ENSG00000135205.15	transcript	ENST00000285871.5	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCSER1_chr4_90122394_91610295	91496773	TATTGAAT others(74): Show TATTGAATATATATTGAATATATATTTGAATATATATATATTCAATATAT ATTGAATATATATTGAATATATATATATTCAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	38	0.0263	-81	c.221 others(104): Show c.2218-101796_2218-101716delTGAATATATATTGAATATATAT TTGAATATATATATATTCAATATATATTGAATATATATTGAATATATATA TATTCAAAT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CD163L1_chr12_7349960_7449153	7421304	TATATACA others(74): Show TATATACATTTGGAAGATATATATGTATATATATCTTCCAAATGTATATA TATGTGTATATATGTATATATACATTTGGAAG	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02145.hp2 HG02451.hp1 others(1): Show HG01261.hp1 HG02145.hp2 HG02451.hp1 HG02922.hp1	a0010 a0011 a0010 a0011	a0010c0018 a0011c0042 a0011c0043 a0010c0018 a0011c0042 a0011c0043	a0010c0018t0001 a0010c0018t0002 a0011c0042t0002 others(1): Show a0010c0018t0001 a0010c0018t0002 a0011c0042t0002 a0011c0043t0001	a0010c0018t0001g0355 a0010c0018t0002g0356 a0011c0042t0002g0354 others(1): Show a0010c0018t0001g0355 a0010c0018t0002g0356 a0011c0042t0002g0354 a0011c0043t0001g0353	4	384	0.0104	-81	c.766 others(100): Show c.766+11031_766+11111delCTTCCAAATGTATATATACATATATA CACATATATATACATTTGGAAGATATATATACATATATATCTTCCAAATG TATAT	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	4/19			chr12	TogoVar
CDH15_chr16_89166748_89200492	89196258	GCCTGGCC others(74): Show GCCTGGCCCAGGAACCCGGCCCCCAGCACCAGGCCCAGCCCGGCCCCCCT GTGGGACAGAGTGTGTTGGGGGCAGCCAGCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(168): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01943.hp1 HG01952.hp1 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 NA18522.hp1 NA18522.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0008 a0011 a0019 a0022	a0001c0001 a0001c0018 a0002c0002 others(15): Show a0001c0001 a0001c0018 a0002c0002 a0002c0004 a0002c0012 a0002c0021 a0002c0041 a0003c0003 a0003c0008 a0003c0009 a0003c0013 a0003c0028 a0003c0038 a0004c0019 a0008c0017 a0011c0026 a0019c0043 a0022c0042	a0001c0001t0001 a0001c0001t0002 a0001c0018t0001 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0018t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 a0002c0012t0001 a0002c0021t0001 a0002c0041t0001 a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0003c0003t0006 a0003c0008t0002 a0003c0009t0001 a0003c0013t0001 a0003c0028t0001 a0003c0038t0001 a0004c0019t0005 a0008c0017t0001 a0011c0026t0001 a0019c0043t0001 a0022c0042t0004	a0001c0001t0001g0005 a0001c0001t0002g0004 a0001c0001t0002g0225 others(134): Show a0001c0001t0001g0005 a0001c0001t0002g0004 a0001c0001t0002g0225 a0001c0018t0001g0157 a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0030 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0112 a0002c0002t0001g0120 a0002c0002t0001g0123 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0133 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0155 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0278 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0286 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0003g0060 a0002c0002t0008g0081 a0002c0004t0001g0132 a0002c0004t0001g0134 a0002c0004t0001g0137 a0002c0004t0001g0138 a0002c0004t0001g0141 a0002c0004t0001g0156 a0002c0004t0001g0175 a0002c0004t0001g0178 a0002c0004t0001g0258 a0002c0004t0001g0259 a0002c0004t0003g0061 a0002c0004t0004g0026 a0002c0004t0004g0027 a0002c0004t0004g0028 a0002c0004t0004g0029 a0002c0004t0004g0097 a0002c0004t0004g0111 a0002c0004t0004g0113 a0002c0004t0004g0114 a0002c0004t0004g0115 a0002c0004t0004g0116 a0002c0004t0004g0117 a0002c0004t0004g0118 a0002c0004t0004g0119 a0002c0004t0004g0121 a0002c0004t0004g0122 a0002c0004t0004g0279 a0002c0012t0001g0002 a0002c0012t0001g0025 a0002c0012t0001g0099 a0002c0021t0001g0152 a0002c0021t0001g0153 a0002c0041t0001g0125 a0003c0003t0001g0035 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0213 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0264 a0003c0003t0001g0273 a0003c0003t0001g0284 a0003c0003t0001g0290 a0003c0003t0001g0291 a0003c0003t0001g0292 a0003c0003t0001g0294 a0003c0003t0001g0295 a0003c0003t0001g0297 a0003c0003t0001g0298 a0003c0003t0003g0058 a0003c0003t0004g0086 a0003c0003t0004g0087 a0003c0003t0006g0210 a0003c0008t0002g0009 a0003c0008t0002g0034 a0003c0008t0002g0036 a0003c0008t0002g0219 a0003c0008t0002g0221 a0003c0008t0002g0226 a0003c0008t0002g0227 a0003c0009t0001g0014 a0003c0009t0001g0018 a0003c0009t0001g0050 a0003c0009t0001g0098 a0003c0009t0001g0193 a0003c0009t0001g0194 a0003c0009t0001g0196 a0003c0013t0001g0083 a0003c0013t0001g0084 a0003c0013t0001g0085 a0003c0013t0001g0277 a0003c0028t0001g0054 a0003c0038t0001g0169 a0004c0019t0005g0301 a0004c0019t0005g0302 a0008c0017t0001g0288 a0008c0017t0001g0289 a0011c0026t0001g0211 a0019c0043t0001g0131 a0022c0042t0004g0082	171	406	0.4212	-81	c.11 others(92): Show c.1104_*1184delCCTGGCCCAGGAACCCGGCCCCCAGCACCAGGCC CAGCCCGGCCCCCCTGTGGGACAGAGTGTGTTGGGGGCAGCCAGCCT	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding		767		chr16	TogoVar
CDH4_chr20_61247261_61945617	61744511	GGGAGAGG others(74): Show GGGAGAGGAAGAGAGGGAGAGAGAGAAGGAGGGAGAGAGATGGAGAGAGG TGGAGGGAGAGAGAGAAGGAAAGGGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG01123.hp2 others(9): Show HG00408.hp1 HG00423.hp1 HG01123.hp2 HG01243.hp2 HG01496.hp2 HG01978.hp2 HG02055.hp2 HG02148.hp1 HG02148.hp2 HG03516.hp1 HG04204.hp1 NA18952.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0023 others(4): Show a0001c0001 a0001c0003 a0001c0023 a0002c0002 a0002c0005 a0002c0009 a0002c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0003t0053 a0001c0023t0044 a0002c0002t0004 a0002c0002t0013 a0002c0002t0039 a0002c0005t0007 a0002c0009t0035 a0002c0015t0007	a0001c0001t0001g0049 a0001c0001t0002g0059 a0001c0001t0002g0078 others(9): Show a0001c0001t0001g0049 a0001c0001t0002g0059 a0001c0001t0002g0078 a0001c0001t0014g0106 a0001c0003t0053g0074 a0001c0023t0044g0084 a0002c0002t0004g0077 a0002c0002t0013g0017 a0002c0002t0039g0058 a0002c0005t0007g0100 a0002c0009t0035g0026 a0002c0015t0007g0025	12	106	0.1132	-81	c.396 others(96): Show c.396+724_396+804delGAGAGGAAGAGAGGGAGAGAGAGAAGGAGG GAGAGAGATGGAGAGAGGTGGAGGGAGAGAGAGAAGGAAAGGGAGGGAGA G	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CELF1_chr11_47460937_47558132	47541701	AGAAAGAA others(74): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAACGAAAGAAAGAACGAAAGAAAG AAAGAACGAAAGAAAGAACGAAAGAAAGAACG	A A	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG04115.hp1 HG04199.hp2 others(1): Show HG02273.hp2 HG04115.hp1 HG04199.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0044 a0001c0001t0003g0050 others(1): Show a0001c0001t0003g0034 a0001c0001t0003g0044 a0001c0001t0003g0050 a0001c0001t0003g0057	4	340	0.0118	-81	c.-15 others(102): Show c.-154+11210_-154+11290delCGTTCTTTCTTTCGTTCTTTCTTT CGTTCTTTCTTTCTTTCGTTCTTTCTTTCGTTCTTTCTTTCTTTCTTTCT TTCTTTC	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14			chr11	TogoVar
CEMIP2_chr9_71678366_71773513	71739340	TGACAGAG others(74): Show TGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAGATGACTACTTTTTTTTTAGTGGTACTGGA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG01106.hp2 others(11): Show HG00735.hp1 HG01074.hp1 HG01106.hp2 HG01243.hp1 HG01934.hp2 HG02145.hp1 HG02602.hp1 HG02647.hp2 HG02735.hp1 HG02886.hp1 HG02896.hp1 HG03471.hp1 HG04228.hp1 NA18522.hp1	a0001 a0006 a0001 a0006	a0001c0009 a0001c0038 a0006c0021 others(2): Show a0001c0009 a0001c0038 a0006c0021 a0006c0037 a0006c0039	a0001c0009t0001 a0001c0009t0005 a0001c0009t0006 others(4): Show a0001c0009t0001 a0001c0009t0005 a0001c0009t0006 a0001c0038t0010 a0006c0021t0009 a0006c0037t0004 a0006c0039t0009	a0001c0009t0001g0245 a0001c0009t0001g0250 a0001c0009t0005g0244 others(11): Show a0001c0009t0001g0245 a0001c0009t0001g0250 a0001c0009t0005g0244 a0001c0009t0005g0246 a0001c0009t0005g0247 a0001c0009t0005g0248 a0001c0009t0005g0249 a0001c0009t0005g0252 a0001c0009t0006g0251 a0001c0038t0010g0268 a0006c0021t0009g0306 a0006c0021t0009g0307 a0006c0037t0004g0235 a0006c0039t0009g0090	14	320	0.0438	-81	c.120 others(98): Show c.1204+642_1204+722delTCCAGTACCACTAAAAAAAAAGTAGTCA TCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCT GTC	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	5/23			chr9	TogoVar
CFAP46_chr10_132803392_132947570	132877762	CGGGCCCG others(74): Show CGGGCCCGGCCTCTGCACTGAGGCCGCCTGGGGCTCCTCCGAGAACCCTG ACAGGCAGGGAAACTGAGGCACAGGCCATCCT	C C	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18967.hp2 NA18939.hp1 NA18967.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0052 a0002c0002 a0004c0052	a0002c0002t0001 a0004c0052t0001 a0002c0002t0001 a0004c0052t0001	a0002c0002t0001g0189 a0004c0052t0001g0188 a0002c0002t0001g0189 a0004c0052t0001g0188	2	246	0.0081	-81	c.421 others(97): Show c.4212+38_4212+118delAGGATGGCCTGTGCCTCAGTTTCCCTGCC TGTCAGGGTTCTCGGAGGAGCCCCAGGCGGCCTCAGTGCAGAGGCCGGGC CC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	30/57			chr10	TogoVar
CFAP54_chr12_96484577_96880555	96827154	ATTATATG others(74): Show ATTATATGTGATTATATATAATGTGCAGTTATATGTGATTATATATAATG TGCAGTTATATGTGATTATATATAATGTGCAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02976.hp2 HG03209.hp2 others(1): Show HG01106.hp2 HG02976.hp2 HG03209.hp2 HG03486.hp1	a0009 a0023 a0049 a0009 a0023 a0049	a0009c0028 a0023c0026 a0049c0039 a0009c0028 a0023c0026 a0049c0039	a0009c0028t0001 a0023c0026t0001 a0049c0039t0001 a0009c0028t0001 a0023c0026t0001 a0049c0039t0001	a0009c0028t0001g0182 a0023c0026t0001g0031 a0023c0026t0001g0047 others(1): Show a0009c0028t0001g0182 a0023c0026t0001g0031 a0023c0026t0001g0047 a0049c0039t0001g0040	4	268	0.0149	-81	c.909 others(100): Show c.9097-1840_9097-1760delATGTGCAGTTATATGTGATTATATAT AATGTGCAGTTATATGTGATTATATATAATGTGCAGTTATATGTGATTAT ATATA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96827174	ATGTGCAG others(74): Show ATGTGCAGTTATATGTGATTATATATAATGTGCAGTTATATGTGATTATA TATAATGTGCAGTTATATGTGATTATATATAG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG03225.hp1 HG01516.hp2 HG03225.hp1	a0001 a0021 a0001 a0021	a0001c0001 a0021c0023 a0001c0001 a0021c0023	a0001c0001t0001 a0021c0023t0001 a0001c0001t0001 a0021c0023t0001	a0001c0001t0001g0050 a0021c0023t0001g0038 a0001c0001t0001g0050 a0021c0023t0001g0038	2	268	0.0075	-81	c.909 others(100): Show c.9097-1813_9097-1733delATGTGCAGTTATATGTGATTATATAT AATGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGATTAT ATATA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96827228	ATGTGCAG others(74): Show ATGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGATTATA TATAGTGTGCAGTTATATGTGATTATATATAG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01256.hp1 HG01891.hp2 others(2): Show HG00741.hp1 HG01256.hp1 HG01891.hp2 HG03098.hp2 HG03942.hp2	a0013 a0015 a0016 others(2): Show a0013 a0015 a0016 a0025 a0033	a0013c0018 a0015c0030 a0016c0014 others(2): Show a0013c0018 a0015c0030 a0016c0014 a0025c0066 a0033c0057	a0013c0018t0001 a0015c0030t0003 a0016c0014t0001 others(2): Show a0013c0018t0001 a0015c0030t0003 a0016c0014t0001 a0025c0066t0001 a0033c0057t0001	a0013c0018t0001g0254 a0015c0030t0003g0192 a0016c0014t0001g0162 others(2): Show a0013c0018t0001g0254 a0015c0030t0003g0192 a0016c0014t0001g0162 a0025c0066t0001g0186 a0033c0057t0001g0106	5	268	0.0187	-81	c.909 others(100): Show c.9097-1482_9097-1402delGTTATATGTGATTATATATAGTGTGC AGTTATATGTGATTATATATAGTGTGCAGTTATATGTGATTATATATAGT GTGCA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar

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