Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ZCCHC10_chr5_132991985_133031549	133006035	AATGCAGT others(142): Show AATGCAGTGGCACAATCTCAGCTCACCAAAACTTCCACCTCCCAGGTTCA AGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTACCTG CCACTATGCCCGGCTAATTTTTGTATTTTTAGTAGGGATGGAATTTCACC	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	312	0.0032	-149	c.269 others(15): Show c.269+575_269+723del	ZCCHC10	ENSG00000155329.12	transcript	ENST00000509437.6	protein_coding	3/4			chr5	TogoVar
ZFAND2A_chr7_1147907_1165196	1159567	GGCCGGAC others(142): Show GGCCGGACCCCCAACAGCCAGACCCCGGCAGGCCCGGTCCCCAGCAGACA GGCCGGACCCCCAGCAGCCAGACCCCGGCAGGCCCGGTCCCCAGCAGACA GGCCGGACCCCCAGCAGCCAGACCCCGGCAGGCCCGGTCCCCAGCAGACA	G G	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	432	0.0023	-149	c.-46 others(15): Show c.-46+248_-46+396del	ZFAND2A	ENSG00000178381.12	transcript	ENST00000316495.8	protein_coding	1/4			chr7	TogoVar
ZNF16_chr8_144925358_144955880	144947207	TGGGCTTG others(142): Show TGGGCTTGTGTCCTGCTGTTGGGCTTGTGTCCTGCTGTGGGGCCTGTGTC CTGCTGTGGGGCCTGTACCCTGCTGTGGGGCCTGTACCCTGCTGCGGGCC TGTACCCTGCTGCGGGCCTGTATCCTGCTGTGGGCCTGTGTCCTGTTGTG	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0046 a0001c0003t0001g0046	1	404	0.0025	-149	c.-9- others(14): Show c.-9-1141_-9-993del	ZNF16	ENSG00000170631.15	transcript	ENST00000394909.7	protein_coding	1/2			chr8	TogoVar
ABHD17C_chr15_80690310_80760621	80741378	TTAGAAGA others(141): Show TTAGAAGATTTGTTCTTACTGTAGATCCTACCAACTTTGGCAGCAGTTGT CTTTTTTCTTATTAAGTTGAGAACTTCCTATTCACTTAAAGGAAGCCCTG TACATGCAGCAAAATTAGCACAGTTTTTTTTTCTTTGTAATTTCACAGG	T T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01952.hp1 HG01934.hp2 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0290 a0001c0001t0001g0291	2	360	0.0056	-148	c.591 others(17): Show c.591-8108_591-7961del	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABR_chr17_998519_1184981	1048541	TGGGCCAC others(141): Show TGGGCCACGGTCAAGAAGCTCGGCGCCCAGCTGCGCCTGGATCACGTCCG GGGCCACGGTCAAGAAGCTCGGCGCCCAGCTGCGCCTGGATCACGTCCGG GGCCACGGTCAAGAAGCTCGGCGCCCAGCTGCCGCCTGGATCACCTCCG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02145.hp1 HG02258.hp1 others(3): Show HG01167.hp2 HG02145.hp1 HG02258.hp1 HG02486.hp1 HG02818.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0014 a0001c0001t0027 others(1): Show a0001c0001t0007 a0001c0001t0014 a0001c0001t0027 a0001c0001t0041	a0001c0001t0007g0280 a0001c0001t0014g0097 a0001c0001t0014g0242 others(3): Show a0001c0001t0007g0280 a0001c0001t0014g0097 a0001c0001t0014g0242 a0001c0001t0014g0243 a0001c0001t0027g0039 a0001c0001t0041g0015	6	337	0.0178	-148	c.179 others(19): Show c.1791+1361_1791+1508del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288226	TCTCTGCT others(141): Show TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA19005.hp1 NA19067.hp1 NA18964.hp2 NA19005.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0094 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0094	3	295	0.0102	-148	c.51 others(11): Show c.5190_*5337del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4164		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288963	CCGTGTCT others(141): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	295	0.0034	-148	c.44 others(11): Show c.4453_*4600del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3427		chr1	TogoVar
ADAM9_chr8_38991973_39110261	39045058	GTGCATAC others(141): Show GTGCATACATACATATGTGTGTGTGCATACATACATATGTGTGTGTGCAT ACATACATATGTGTGTGTGCATACATACATATATGTGTATATATGTGTAT ACATACATATATGTGTATATATGTGTATACATACATATATGTGTATATA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	332	0.0030	-148	c.130 others(19): Show c.1302+2944_1302+3091del	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS2_chr5_179105853_179350461	179229314	CGCTGCCC others(141): Show CGCTGCCCACTCCACAAACATGAGACCCCGCTGCCCACTCCCGACGGAGA GGTAATTCCACAAACACGAGACCCCGCTGCCCACTCCACAAACACGAGAC CCCGCTGCCCACTCCCGACGGAGAGGTAATTCCACAAACACGAGACCCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00597.hp1 others(66): Show HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00735.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01496.hp2 HG01884.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02071.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02293.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03471.hp1 HG03490.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03831.hp2 HG03834.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18946.hp2 NA18952.hp1 NA18957.hp1 NA18966.hp1 NA18969.hp1 NA18977.hp1 NA18983.hp2 NA18995.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19065.hp1 NA19066.hp2 NA19084.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0015 a0019 a0020 a0023 a0027 a0028 a0029 a0036	a0001c0001 a0001c0004 a0001c0022 others(43): Show a0001c0001 a0001c0004 a0001c0022 a0001c0046 a0001c0052 a0001c0072 a0001c0074 a0002c0002 a0002c0007 a0002c0008 a0002c0012 a0002c0017 a0002c0023 a0002c0030 a0002c0031 a0002c0043 a0002c0057 a0002c0060 a0003c0003 a0003c0096 a0003c0097 a0003c0105 a0003c0109 a0004c0006 a0004c0016 a0004c0039 a0004c0100 a0004c0110 a0004c0111 a0005c0013 a0006c0009 a0006c0011 a0006c0044 a0006c0062 a0007c0005 a0009c0021 a0009c0041 a0010c0079 a0015c0086 a0019c0084 a0020c0113 a0023c0090 a0027c0094 a0028c0112 a0029c0104 a0036c0081	a0001c0001t0001 a0001c0001t0004 a0001c0004t0002 others(54): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0002 a0001c0004t0004 a0001c0004t0006 a0001c0022t0002 a0001c0046t0002 a0001c0052t0002 a0001c0072t0002 a0001c0074t0004 a0002c0002t0001 a0002c0002t0006 a0002c0007t0002 a0002c0008t0001 a0002c0008t0004 a0002c0012t0001 a0002c0012t0013 a0002c0017t0001 a0002c0017t0004 a0002c0023t0002 a0002c0030t0008 a0002c0030t0011 a0002c0031t0004 a0002c0043t0014 a0002c0057t0004 a0002c0060t0001 a0003c0003t0001 a0003c0096t0002 a0003c0097t0021 a0003c0105t0012 a0003c0109t0012 a0004c0006t0001 a0004c0016t0002 a0004c0016t0015 a0004c0039t0002 a0004c0100t0002 a0004c0110t0002 a0004c0111t0004 a0005c0013t0003 a0005c0013t0010 a0006c0009t0005 a0006c0011t0003 a0006c0044t0003 a0006c0062t0003 a0007c0005t0003 a0009c0021t0003 a0009c0021t0018 a0009c0041t0003 a0010c0079t0011 a0015c0086t0004 a0019c0084t0008 a0020c0113t0029 a0023c0090t0016 a0027c0094t0003 a0028c0112t0001 a0029c0104t0027 a0036c0081t0028	a0001c0001t0001g0067 a0001c0001t0004g0122 a0001c0004t0002g0167 others(66): Show a0001c0001t0001g0067 a0001c0001t0004g0122 a0001c0004t0002g0167 a0001c0004t0004g0144 a0001c0004t0004g0157 a0001c0004t0004g0187 a0001c0004t0006g0191 a0001c0022t0002g0042 a0001c0046t0002g0194 a0001c0052t0002g0148 a0001c0072t0002g0108 a0001c0074t0004g0062 a0002c0002t0001g0052 a0002c0002t0001g0092 a0002c0002t0001g0095 a0002c0002t0001g0117 a0002c0002t0001g0125 a0002c0002t0001g0129 a0002c0002t0006g0090 a0002c0007t0002g0029 a0002c0007t0002g0031 a0002c0008t0001g0166 a0002c0008t0004g0170 a0002c0012t0001g0056 a0002c0012t0013g0071 a0002c0017t0001g0173 a0002c0017t0004g0158 a0002c0023t0002g0151 a0002c0030t0008g0121 a0002c0030t0011g0128 a0002c0031t0004g0051 a0002c0043t0014g0193 a0002c0057t0004g0032 a0002c0060t0001g0091 a0003c0003t0001g0246 a0003c0003t0001g0254 a0003c0003t0001g0258 a0003c0003t0001g0268 a0003c0096t0002g0248 a0003c0097t0021g0227 a0003c0105t0012g0209 a0003c0109t0012g0203 a0004c0006t0001g0249 a0004c0016t0002g0259 a0004c0016t0015g0252 a0004c0039t0002g0204 a0004c0100t0002g0238 a0004c0110t0002g0205 a0004c0111t0004g0211 a0005c0013t0003g0087 a0005c0013t0010g0075 a0005c0013t0010g0077 a0006c0009t0005g0109 a0006c0011t0003g0168 a0006c0044t0003g0165 a0006c0062t0003g0104 a0007c0005t0003g0264 a0009c0021t0003g0016 a0009c0021t0018g0116 a0009c0041t0003g0164 a0010c0079t0011g0018 a0015c0086t0004g0201 a0019c0084t0008g0198 a0020c0113t0029g0276 a0023c0090t0016g0215 a0027c0094t0003g0266 a0028c0112t0001g0206 a0029c0104t0027g0221 a0036c0081t0028g0053	69	276	0.2500	-148	c.689 others(19): Show c.689-21747_689-21600del	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179229351	CTCCCGAC others(141): Show CTCCCGACGGAGAGGTAATTCCACAAACACGAGACCCCGCTGCCCACTCC ACAAACACGAGACCCCGCTGCCCACTCCCGACGGAGAGGTAATTCCACAA ACACGAGACCCTGCTGCCCACTCCACAAACATGAGACCCCGCTGCCCAT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03225.hp1 HG02723.hp2 HG03225.hp1	a0001 a0004 a0001 a0004	a0001c0070 a0004c0039 a0001c0070 a0004c0039	a0001c0070t0001 a0004c0039t0007 a0001c0070t0001 a0004c0039t0007	a0001c0070t0001g0084 a0004c0039t0007g0208 a0001c0070t0001g0084 a0004c0039t0007g0208	2	276	0.0073	-148	c.689 others(19): Show c.689-21784_689-21637del	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ALG12_chr22_49895229_49923438	49902439	CGTGTGCA others(141): Show CGTGTGCACTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTGGTGTG TATGCATGGTGTGTGCACATGTGCACTGTGTATGCATGGTAATGTGCACG CGTGCACTGTGTGTATGCATGGTAATGTGCACGTGTGCACTGTGTGTGG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0070 a0001c0002t0031g0070	1	348	0.0029	-148	c.12 others(11): Show c.1251_*1398del	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	10/10	1251		chr22	TogoVar
ANO2_chr12_5557655_5950259	5929301	TTCTTACC others(141): Show TTCTTACCAGTCTTCCTTCCTTACTAGTCTATCTTCTTTCCTCACTCGTC TGCCTTCTTTCCTTATTAGTCACTCTCTTACCAGTCTTCCTTCCTTACTA GTCTATCTTCTTTCCTCACTCGTCTACCTTCTTTCCTTATTAGTCACTC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0024 a0005c0010 a0006c0012 a0001c0024 a0005c0010 a0006c0012	a0001c0024t0001 a0005c0010t0003 a0006c0012t0002 a0001c0024t0001 a0005c0010t0003 a0006c0012t0002	a0001c0024t0001g0074 a0005c0010t0003g0006 a0006c0012t0002g0146 a0001c0024t0001g0074 a0005c0010t0003g0006 a0006c0012t0002g0146	3	162	0.0185	-148	c.23- others(15): Show c.23-6645_23-6498del	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5929343	CACTCGTC others(141): Show CACTCGTCTGCCTTCTTTCCTTATTAGTCACTCTCTTACCAGTCTTCCTT CCTTACTAGTCTATCTTCTTTCCTCACTCGTCTACCTTCTTTCCTTATTA GTCACTCTCTTACCAGTCTTCCTTCCTTACTAGTCTATCTTCTTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02257.hp2 others(11): Show HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02572.hp1 HG02615.hp1 HG02717.hp1 HG02723.hp1 HG03704.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0001c0016 a0002c0003 others(4): Show a0001c0001 a0001c0016 a0002c0003 a0002c0006 a0003c0004 a0003c0011 a0011c0021	a0001c0001t0001 a0001c0001t0002 a0001c0016t0002 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0016t0002 a0002c0003t0002 a0002c0006t0002 a0003c0004t0002 a0003c0011t0001 a0011c0021t0002	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0002g0152 others(11): Show a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0002g0152 a0001c0001t0002g0159 a0001c0016t0002g0157 a0002c0003t0002g0155 a0002c0003t0002g0158 a0002c0003t0002g0160 a0002c0003t0002g0161 a0002c0006t0002g0154 a0003c0004t0002g0150 a0003c0004t0002g0151 a0003c0011t0001g0072 a0011c0021t0002g0153	14	162	0.0864	-148	c.23- others(15): Show c.23-6687_23-6540del	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5929406	TCTTCTTT others(141): Show TCTTCTTTCCTCACTCGTCTACCTTCTTTCCTTATTAGTCACTCTCTTAC CAGTCTTCCTTCCTTACTAGTCTATCTTCTTTCCTTACTCGTCTACCTTC TTTCCTTATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01071.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145	3	162	0.0185	-148	c.23- others(15): Show c.23-6750_23-6603del	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5929994	CCTTCTTT others(141): Show CCTTCTTTCCTCACTCGTCTACCTTCTTTCCTTATTAGTCACTTTCTTAC CAGTCTTCCTTCCTTACTAGTCTACCTTCTTTCCTCACTCGTCTACCTTC TTTCCTTATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTGT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02818.hp1 HG02965.hp2 HG02723.hp2 HG02818.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0005t0001 a0002c0003t0008 a0001c0001t0001 a0001c0005t0001 a0002c0003t0008	a0001c0001t0001g0051 a0001c0005t0001g0050 a0002c0003t0008g0049 a0001c0001t0001g0051 a0001c0005t0001g0050 a0002c0003t0008g0049	3	162	0.0185	-148	c.23- others(15): Show c.23-7338_23-7191del	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5931593	TAGACTAG others(141): Show TAGACTAGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGA AGGTAGACGAGTGAGGAAAGAAGATAGACTAGTAAGGAAGGAAGACTGGT AAGAAAGTGACTAATAAGGAAAGAAGGTAGACGAGTGAGGAAAGAAGAC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0144 a0001c0001t0002g0145	2	162	0.0124	-148	c.23- others(15): Show c.23-8937_23-8790del	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ARHGEF10_chr8_1818926_1963641	1953169	CGGGATCT others(141): Show CGGGATCTCCGTCATTCCTTTCTGTATTTTATGTTGTGAAGAAGGAAGCC GGGATCTCCGTCGTTCCTTTCTGTATTTTATATTGTGAAGAAGGAAGCCG GGATCTCCGTCATTCCTTTCTGTATTTTATGTTGTGAAGAAGGAAGCCG	C C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0063 a0001c0063	a0001c0063t0002 a0001c0063t0002	a0001c0063t0002g0209 a0001c0063t0002g0209	1	363	0.0028	-148	c.352 others(17): Show c.3520+345_3520+492del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARMC9_chr2_231193631_231381848	231249801	ACCCACCC others(141): Show ACCCACCCGTGCACACCTCCACGGGAGGGAGACCACCGCCCACCCGTGCA CACCTCCACGGGAGGGAGACCACCGCCCACCCGTGCACACCTCCACGGGA GGGAGACCACCGCCCACCCGTGCACACCTCCACGGGAGGGAGACCACCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp2 others(29): Show HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG01070.hp2 HG01346.hp1 HG02015.hp2 HG02135.hp1 HG02155.hp2 HG03654.hp1 HG03942.hp1 HG04115.hp1 NA18943.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18964.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18993.hp1 NA18995.hp2 NA19012.hp2 NA19056.hp2 NA19082.hp2 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0030 a0001c0001t0038 a0001c0001t0041 a0001c0001t0052 a0001c0001t0057 a0001c0001t0061 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0016 a0001c0002t0022 a0001c0002t0051 a0001c0012t0048	a0001c0001t0001g0126 a0001c0001t0001g0151 a0001c0001t0003g0149 others(29): Show a0001c0001t0001g0126 a0001c0001t0001g0151 a0001c0001t0003g0149 a0001c0001t0004g0124 a0001c0001t0004g0135 a0001c0001t0005g0138 a0001c0001t0005g0140 a0001c0001t0006g0148 a0001c0001t0008g0153 a0001c0001t0009g0142 a0001c0001t0011g0120 a0001c0001t0015g0150 a0001c0001t0016g0134 a0001c0001t0016g0146 a0001c0001t0017g0121 a0001c0001t0017g0127 a0001c0001t0017g0141 a0001c0001t0018g0136 a0001c0001t0018g0137 a0001c0001t0030g0132 a0001c0001t0038g0154 a0001c0001t0041g0152 a0001c0001t0052g0131 a0001c0001t0057g0125 a0001c0001t0061g0130 a0001c0002t0002g0133 a0001c0002t0003g0155 a0001c0002t0012g0139 a0001c0002t0016g0123 a0001c0002t0022g0145 a0001c0002t0051g0147 a0001c0012t0048g0156	32	200	0.1600	-148	c.880 others(17): Show c.880-6711_880-6564del	ARMC9	ENSG00000135931.19	transcript	ENST00000611582.5	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP8A1_chr4_42403373_42662105	42652850	TTCTTTAT others(141): Show TTCTTTATAAATTACCCAGTCTTGGGTATGTTTTTATTAGCAGCCTAAGA GCGGACTAACACAATGACCTTTGTGACCTCATTTCCTACTATTCTTCCCC TCACCGTTCCTAATTCCCGATGTGAAACTGAGTCCATTAAACCTCTTTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00438.hp1 others(43): Show HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00558.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01884.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG02273.hp1 HG02738.hp1 HG02738.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03654.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18956.hp1 NA18956.hp2 NA18983.hp2 NA18994.hp1 NA19012.hp1 NA19084.hp1 NA20752.hp1 NA20805.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0003c0006 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0030 a0001c0001t0037 a0001c0002t0004 a0001c0002t0014 a0001c0003t0005 a0001c0008t0006 a0003c0006t0005 a0005c0010t0014	a0001c0001t0001g0127 a0001c0001t0002g0015 a0001c0001t0003g0197 others(43): Show a0001c0001t0001g0127 a0001c0001t0002g0015 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0204 a0001c0001t0003g0206 a0001c0001t0003g0209 a0001c0001t0003g0215 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0005g0196 a0001c0001t0005g0199 a0001c0001t0005g0202 a0001c0001t0005g0208 a0001c0001t0005g0226 a0001c0001t0005g0265 a0001c0001t0006g0210 a0001c0001t0006g0222 a0001c0001t0008g0017 a0001c0001t0009g0205 a0001c0001t0009g0211 a0001c0001t0009g0212 a0001c0001t0009g0213 a0001c0001t0009g0214 a0001c0001t0009g0216 a0001c0001t0009g0217 a0001c0001t0009g0221 a0001c0001t0009g0278 a0001c0001t0030g0126 a0001c0001t0037g0203 a0001c0002t0004g0016 a0001c0002t0014g0276 a0001c0003t0005g0207 a0001c0003t0005g0218 a0001c0008t0006g0198 a0003c0006t0005g0219 a0003c0006t0005g0220 a0005c0010t0014g0277	46	310	0.1484	-148	c.49+ others(15): Show c.49+3827_49+3974del	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
B3GNTL1_chr17_82937149_83056770	82972052	GGGGCTAG others(141): Show GGGGCTAGAAGGACCTGGTGCCGACACACCACACCATGGGCCAGAAGGAC CTGGTGCCGACCACACCACACCACAGGGGATAGAAGGACCTGGTACTGAC CACACCACACCACGGGCCAGAAGGACCTGGTGCCGACACACCACACCAT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0022 a0001c0006t0001g0022	1	266	0.0038	-148	c.460 others(17): Show c.460-6454_460-6307del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
C2CD4C_chr19_400445_414147	410763	GTCCTGGG others(141): Show GTCCTGGGGGTCTGTCCACTGCCCCTGCTGGGCCCGGATCCTGGGGATCT GTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCACT GCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01168.hp1 HG01192.hp1 others(6): Show HG00544.hp2 HG01168.hp1 HG01192.hp1 HG01975.hp1 HG02129.hp2 HG03209.hp2 NA18612.hp1 NA19066.hp1 NA19074.hp2	a0000 a0001 a0000 a0001	a0000c0003 a0001c0001 a0001c0002 a0000c0003 a0001c0001 a0001c0002	a0000c0003t0001 a0001c0001t0001 a0001c0001t0101 others(6): Show a0000c0003t0001 a0001c0001t0001 a0001c0001t0101 a0001c0001t0110 a0001c0002t0003 a0001c0002t0020 a0001c0002t0126 a0001c0002t0131 a0001c0002t0132	a0000c0003t0001g0023 a0001c0001t0001g0001 a0001c0001t0101g0080 others(6): Show a0000c0003t0001g0023 a0001c0001t0001g0001 a0001c0001t0101g0080 a0001c0001t0110g0090 a0001c0002t0003g0002 a0001c0002t0020g0139 a0001c0002t0126g0137 a0001c0002t0131g0140 a0001c0002t0132g0141	9	322	0.0280	-148	c.-19 others(11): Show c.-1946_-1799del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
C2CD4C_chr19_400445_414147	411156	CCTGCTGG others(141): Show CCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCG GATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTC TGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 NA18906.hp2 HG01346.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0001 a0001c0001t0017g0018 a0001c0001t0001g0001 a0001c0001t0017g0018	2	322	0.0062	-148	c.-23 others(11): Show c.-2339_-2192del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2010		chr19	TogoVar
C7orf50_chr7_992006_1143247	1031470	GACCAGAG others(141): Show GACCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCTG CAGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTGCAGGGAGGGCAGA GTGGTCCGGGGCGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp1 HG02280.hp2 others(15): Show HG01081.hp2 HG02055.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02723.hp1 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03195.hp2 HG03486.hp1 HG03540.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0002c0002t0003 a0002c0002t0018	a0001c0001t0001g0099 a0001c0001t0003g0205 a0001c0001t0003g0238 others(15): Show a0001c0001t0001g0099 a0001c0001t0003g0205 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0243 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0005g0260 a0001c0001t0007g0144 a0002c0002t0003g0288 a0002c0002t0003g0315 a0002c0002t0003g0316 a0002c0002t0003g0317 a0002c0002t0003g0322 a0002c0002t0003g0323 a0002c0002t0018g0202 a0002c0002t0018g0203	18	326	0.0552	-148	c.130 others(19): Show c.130-21475_130-21328del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1031544	CGGCAGAG others(141): Show CGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTG CAGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTGCAGGGAGGGCAGA GTGGTCCGGGGCGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA21309.hp1 HG01361.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0233 a0001c0001t0009g0117 a0001c0001t0002g0233 a0001c0001t0009g0117	2	326	0.0061	-148	c.130 others(19): Show c.130-21549_130-21402del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CASZ1_chr1_10631604_10801646	10744583	TGGGCACC others(141): Show TGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTG GGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGG CACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02486.hp1 HG03927.hp1 others(5): Show HG00735.hp2 HG02486.hp1 HG03927.hp1 NA18952.hp2 NA18964.hp2 NA18986.hp2 NA19074.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0035	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0003c0035t0033	a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0234 others(5): Show a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0234 a0001c0001t0003g0027 a0001c0002t0002g0201 a0001c0002t0003g0010 a0001c0003t0001g0207 a0003c0035t0033g0128	8	236	0.0339	-148	c.-77 others(19): Show c.-77+15970_-77+16117del	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CD247_chr1_167425640_167523529	167434948	TCCTCCAG others(141): Show TCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTT CCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCT CCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTA	T T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	374	0.0027	-148	c.336 others(15): Show c.336+303_336+450del	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CDC42EP5_chr19_54460026_54478296	54471908	ACCCCCAG others(141): Show ACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTC CTCCCTCAGACCCAGGAGTCCAGACCCCCCAGCCCTTCCTCCCTCAGACC CAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG01123.hp2 others(10): Show HG00741.hp2 HG01070.hp2 HG01123.hp2 HG01257.hp1 HG01258.hp2 HG01943.hp2 HG01952.hp2 HG02698.hp1 HG03453.hp2 HG03688.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0034 a0001c0001t0002g0035 others(5): Show a0001c0001t0002g0011 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076	13	421	0.0309	-148	c.-14 others(17): Show c.-141-371_-141-224del	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2			chr19	TogoVar
CENPVL3_chrX_51612020_51623912	51621542	CTTCTTCT others(141): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG02129.hp1 others(7): Show HG01515.hp1 HG01517.hp1 HG02129.hp1 HG02559.hp2 HG02809.hp2 HG02976.hp1 HG03704.hp2 HG06807.hp1 NA19030.hp1 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0005 a0001c0001t0001 a0001c0001t0004 a0002c0002t0005	a0001c0001t0001g0000 a0001c0001t0004g0000 a0002c0002t0005g0000 a0001c0001t0001g0000 a0001c0001t0004g0000 a0002c0002t0005g0000	10	298	0.0336	-148	c.-28 others(11): Show c.-2817_-2670del	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2631		chrX	TogoVar
CHCHD6_chr3_126699240_126965420	126949482	TGCCGTGG others(141): Show TGCCGTGGACGGAAGGGAAGGCTGCTGCGTGGACTGCCGCCGTGGACGGA AGGGAAGGCTGCTGCCCGGACTGCCGCCGTGGACGGAAGGGAAGGCTGCT GCCCGGACTGCCGCCGTGGACGGAAGGGAAGGCTGCTGCCCGGACTGCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp2 others(24): Show HG00280.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG02040.hp2 HG02074.hp2 HG02132.hp2 HG02155.hp1 HG02559.hp2 HG03209.hp2 HG03654.hp1 HG03942.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18939.hp1 NA18960.hp1 NA18971.hp2 NA18980.hp2 NA18995.hp1 NA18998.hp1 NA19009.hp1 NA19011.hp1 NA19068.hp1 NA19088.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0121 a0001c0001t0001g0162 a0002c0002t0001g0035 others(24): Show a0001c0001t0001g0121 a0001c0001t0001g0162 a0002c0002t0001g0035 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081	27	216	0.1250	-148	c.567 others(17): Show c.567-7905_567-7758del	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLN8_chr8_1758789_1791570	1763453	CCGCCCCC others(141): Show CCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGC CCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCG CCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG03130.hp2 HG03225.hp1 others(2): Show HG01081.hp1 HG03130.hp2 HG03225.hp1 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0027 a0001c0001t0020 a0001c0001t0027	a0001c0001t0020g0029 a0001c0001t0020g0172 a0001c0001t0027g0138 others(1): Show a0001c0001t0020g0029 a0001c0001t0020g0172 a0001c0001t0027g0138 a0001c0001t0027g0139	5	413	0.0121	-148	c.-55 others(9): Show c.-555_-408del	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		335		chr8	TogoVar
CLN8_chr8_1758789_1791570	1763496	GCCGCGCC others(141): Show GCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCC CGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCC CCGCCGCGCCCCGCCCCCCGCGCCGCGCCCCGCCCCCCGCCGCGCCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp2 others(61): Show HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00733.hp1 HG01109.hp2 HG01243.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02135.hp2 HG02155.hp2 HG02258.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03453.hp2 HG03471.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04228.hp1 NA18522.hp2 NA18941.hp1 NA18943.hp1 NA18946.hp2 NA18950.hp1 NA18959.hp2 NA18962.hp1 NA18965.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19077.hp1 NA19088.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0006c0008 a0007c0005 a0001c0001 a0006c0008 a0007c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0038 a0001c0001t0068 a0001c0001t0077 a0001c0001t0084 a0001c0001t0087 a0001c0001t0091 a0001c0001t0094 a0001c0001t0096 a0001c0001t0097 a0001c0001t0105 a0001c0001t0109 a0006c0008t0111 a0007c0005t0037	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(45): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0093 a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0003g0002 a0001c0001t0003g0005 a0001c0001t0003g0020 a0001c0001t0003g0030 a0001c0001t0003g0041 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0083 a0001c0001t0004g0004 a0001c0001t0004g0071 a0001c0001t0005g0003 a0001c0001t0005g0060 a0001c0001t0005g0105 a0001c0001t0005g0121 a0001c0001t0006g0003 a0001c0001t0006g0021 a0001c0001t0009g0040 a0001c0001t0015g0016 a0001c0001t0016g0045 a0001c0001t0017g0003 a0001c0001t0038g0081 a0001c0001t0068g0004 a0001c0001t0077g0023 a0001c0001t0084g0006 a0001c0001t0087g0078 a0001c0001t0091g0006 a0001c0001t0094g0072 a0001c0001t0096g0023 a0001c0001t0097g0127 a0001c0001t0105g0097 a0001c0001t0109g0059 a0006c0008t0111g0021 a0007c0005t0037g0015	64	413	0.1550	-148	c.-51 others(9): Show c.-512_-365del	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		292		chr8	TogoVar
CNTN1_chr12_40687439_41077415	41056891	TATATTTA others(141): Show TATATTTAGATATTTATAAATATTTATAATATTTAGATATTTATAAATAT TTATAATATTTAGATATTTATAAATATTATAAATATTTAGATATTTATAA ATATTATAAATATTTAGATATTTATAAATGATATTTATAAATATTATAA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01515.hp2 HG01517.hp1 others(14): Show HG01169.hp1 HG01515.hp2 HG01517.hp1 HG02109.hp2 HG02486.hp1 HG02615.hp1 HG03041.hp2 HG03130.hp1 HG03540.hp2 NA18906.hp1 NA18953.hp1 NA18964.hp2 NA18972.hp2 NA19043.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0015 a0001c0001t0017 others(3): Show a0001c0001t0003 a0001c0001t0015 a0001c0001t0017 a0001c0001t0026 a0001c0002t0003 a0001c0003t0003	a0001c0001t0003g0010 a0001c0001t0003g0023 a0001c0001t0003g0084 others(14): Show a0001c0001t0003g0010 a0001c0001t0003g0023 a0001c0001t0003g0084 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0154 a0001c0001t0003g0166 a0001c0001t0003g0200 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0015g0219 a0001c0001t0017g0187 a0001c0001t0026g0190 a0001c0002t0003g0075 a0001c0003t0003g0064 a0001c0003t0003g0065 a0001c0003t0003g0066	17	230	0.0739	-148	c.298 others(21): Show c.2981-13044_2981-12897del	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTRL_chr9_121069955_121182610	121092535	ATATATAT others(141): Show ATATATATTATATATATCTATATATATAATATATATCTATATATATAATA TATATCTATATATATAATATATATCTATATATATTATATATATCTATATA TATAATATATATCTATATATAATATATATCTATATATATAATATATATC	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0295 a0003c0003t0001g0295	1	330	0.0030	-148	c.348 others(17): Show c.348+2138_349-2198del	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL4A3_chr2_227159624_227319792	227203168	TATATATG others(141): Show TATATATGTGTATATGTGTGTATATATACATATATGTGTATATACACACA TATATGTGTATATATGTGTATATATACATATATGTATATATACATATATG TGTATATATGTGTATATATACATATATGTGTATATATGTGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp2 HG02922.hp2 others(1): Show HG02109.hp2 HG02559.hp2 HG02922.hp2 NA20129.hp1	a0002 a0025 a0002 a0025	a0002c0007 a0002c0026 a0025c0043 a0002c0007 a0002c0026 a0025c0043	a0002c0007t0003 a0002c0026t0014 a0025c0043t0012 a0002c0007t0003 a0002c0026t0014 a0025c0043t0012	a0002c0007t0003g0092 a0002c0026t0014g0071 a0002c0026t0014g0146 others(1): Show a0002c0007t0003g0092 a0002c0026t0014g0071 a0002c0026t0014g0146 a0025c0043t0012g0233	4	344	0.0116	-148	c.88- others(17): Show c.88-34786_88-34639del	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPNE7_chr16_89570758_89602246	89598945	AGGTCTCA others(141): Show AGGTCTCAGGGGCTGGGCAGAGGGTGCGTGTCAGGGCCCTGTGCTGATCG GGGGTCTCGGGCTGGACAGAGGGTGTCAGGGCCCTGTGCAGGTGTGGGGG GGTCTCAGGCTGGACAGAGGGTGAGTATCAGGGCCCTGTGCTGATCGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0187 a0001c0002t0005g0187	1	348	0.0029	-148	c.23 others(11): Show c.2325_*2472del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		1700		chr16	TogoVar
DCAKD_chr17_45018344_45056632	45051827	GCGGGGCC others(141): Show GCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTT GGGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGA GAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02615.hp2 others(1): Show HG01243.hp1 HG01884.hp2 HG02615.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0022 a0001c0001t0041 a0001c0001t0012 a0001c0001t0022 a0001c0001t0041	a0001c0001t0012g0195 a0001c0001t0022g0197 a0001c0001t0041g0194 others(1): Show a0001c0001t0012g0195 a0001c0001t0022g0197 a0001c0001t0041g0194 a0001c0001t0041g0196	4	408	0.0098	-148	c.-72 others(9): Show c.-729_-582del	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		196		chr17	TogoVar
DCAKD_chr17_45018344_45056632	45051924	GGAGAGGT others(141): Show GGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGGGCG GACGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGGG CGGGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0252 a0001c0001t0009g0252	1	408	0.0025	-148	c.-82 others(9): Show c.-826_-679del	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		293		chr17	TogoVar
DGKB_chr7_14140049_14907751	14212196	TTTTACTC others(141): Show TTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTC TCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTT TGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	148	0.0068	-148	c.212 others(21): Show c.2123-34193_2123-34046del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DLGAP2_chr8_732628_1713476	1255439	CGAGCACT others(141): Show CGAGCACTGTATGTGTGTCCTCTCTTGCCTGGGTGCTGTGTGTGTGTGTC CTCATCTTGCCCGGGCGCTGTGTGTGTGTCATCTCCTGCCTGGGAGCTGT GTGTCTGTCCTCTCCTGCCTGGGAGCTGTGTGTGTGTCCTTTCCTGCCT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0001 a0002c0001t0011g0001	1	40	0.0250	-148	c.74- others(15): Show c.74-3356_74-3209del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOK7_chr4_3458306_3499482	3490111	CATTCATT others(141): Show CATTCATTCCTTTTCTCCCTGCTCATTCATTCCTTCCTTCCCCACCCTGC TCATTCATTTCTTCCTCCGCCCCCCCCACTCATTCCTTCCCCCCTCATTC ATTCCTGTCTTCACCCCCTCATTCATTCCTTCCTTTTCTCCCTGCTCAT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0013 a0011c0011t0013	a0011c0011t0013g0040 a0011c0011t0013g0040	1	404	0.0025	-148	c.772 others(15): Show c.772+316_772+463del	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6			chr4	TogoVar
DPH7_chr9_137549444_137583925	137567876	TCTGTCTG others(141): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	340	0.0029	-148	c.641 others(17): Show c.641-2870_641-2723del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ENOX1_chr13_43208130_43791972	43470239	TATATATA others(141): Show TATATATATACATATATATATACATATATATACACATATATATACATATA TATATACACATATATATACATATATATACACATATATATATGTATATATA TACGTATATATATATGTATATATATACGTATATATATACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02109.hp2 HG02622.hp1 others(6): Show HG01496.hp2 HG02109.hp2 HG02622.hp1 HG02717.hp1 HG02965.hp2 HG03041.hp2 HG03239.hp2 NA18906.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0040 a0001c0002t0001 a0001c0005t0003 a0001c0008t0002	a0001c0001t0002g0115 a0001c0001t0004g0116 a0001c0001t0005g0140 others(6): Show a0001c0001t0002g0115 a0001c0001t0004g0116 a0001c0001t0005g0140 a0001c0001t0005g0173 a0001c0001t0040g0139 a0001c0002t0001g0060 a0001c0002t0001g0094 a0001c0005t0003g0120 a0001c0008t0002g0077	9	188	0.0479	-148	c.-75 others(19): Show c.-75+13622_-75+13769del	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
EPS8L1_chr19_55070869_55092923	55078260	TCTGGACT others(141): Show TCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTAG GTTTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGAGTCAGAGGGAAGA GGTGCTGGGGGCCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGG	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03195.hp1 HG02809.hp2 HG03195.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0001 a0001c0001t0001 a0006c0007t0001	a0001c0001t0001g0099 a0006c0007t0001g0098 a0001c0001t0001g0099 a0006c0007t0001g0098	2	340	0.0059	-148	c.58+ others(13): Show c.58+180_58+327del	EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55078616	AGAGGGGC others(141): Show AGAGGGGCTGGGGGGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGG GCCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGCCTGGACTCCTG GGTCAGAGGGAAGAGGGGCTGGGGGTCTGGACTCCTGGGTCAGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG06807.hp1 HG03516.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0173 a0001c0001t0001g0175	2	340	0.0059	-148	c.59- others(13): Show c.59-317_59-170del	EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55078690	AGAGGGGC others(141): Show AGAGGGGCTGGGGGCCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGG GTCTGGACTCCTGGGTCAGAGGGAGGAGGGGCTGGGGGGCTGGACTCCTG GGTCAGAGGGAAGAGGGGCTGGGGGCCTGGACTCCTGGGTTTGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00597.hp1 others(31): Show HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00741.hp2 HG01243.hp2 HG01361.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02109.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02809.hp2 HG03130.hp1 HG03239.hp2 HG03540.hp2 NA18943.hp2 NA18945.hp1 NA18963.hp1 NA19010.hp2 NA19067.hp2 NA19070.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0028 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0155	34	340	0.1000	-148	c.59- others(13): Show c.59-258_59-111del	EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
ERFL_chr19_41902704_41933449	41914713	TCTGTCTC others(141): Show TCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCAC CGTCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCCCT CCACCGTGTCTCCCCCCCTTTCCACCGTCTCTGTCTCTCCCCCCCTCCA	T T	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	330	0.0030	-148	c.-13 others(17): Show c.-13-1929_-13-1782del	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERO1B_chr1_236210101_236286958	236245322	ACACACAC others(141): Show ACACACACGTATATATATACGTATATATATACACACGTATATATATACGT ATATATATACACACGTATATATATACGTATATATATACACACGTATATAT ATACGTATATATATACACACGTATATATATACGTATATATATACACACG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01109.hp2 NA18747.hp1 others(1): Show HG00408.hp2 HG01109.hp2 NA18747.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0027 a0001c0001t0001g0137 a0001c0001t0001g0273 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0137 a0001c0001t0001g0273 a0001c0001t0002g0129	4	396	0.0101	-148	c.432 others(17): Show c.432-1975_432-1828del	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ESPNL_chr2_238095340_238138287	238118430	GGAATGGA others(141): Show GGAATGGATGGAAGAGGTGGATGGAGGAGAGTGAATGGAGGAGGTGGATG GAAAAGAGTGGATGGTGGGAGATGGAGGAGGGTGGATGGAGAAGGGTGGA TGGAGGAGGAATGGATGGAAGAGGTGGATGGAGGAGAGTGAATGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00733.hp2 others(26): Show HG00140.hp1 HG00423.hp2 HG00733.hp2 HG01243.hp1 HG01255.hp1 HG01978.hp2 HG02148.hp1 HG02165.hp1 HG02293.hp1 HG02451.hp2 HG02738.hp2 HG03490.hp2 HG03710.hp2 HG04184.hp2 NA18942.hp2 NA18951.hp2 NA18954.hp1 NA18960.hp1 NA18967.hp2 NA18977.hp2 NA19000.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19083.hp2 NA19091.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0026 a0032 a0039	a0001c0018 a0001c0048 a0001c0101 others(11): Show a0001c0018 a0001c0048 a0001c0101 a0002c0031 a0002c0103 a0003c0024 a0004c0104 a0005c0102 a0006c0047 a0007c0100 a0009c0025 a0026c0129 a0032c0106 a0039c0105	a0001c0018t0001 a0001c0018t0003 a0001c0018t0006 others(15): Show a0001c0018t0001 a0001c0018t0003 a0001c0018t0006 a0001c0018t0016 a0001c0048t0004 a0001c0101t0016 a0002c0031t0002 a0002c0103t0002 a0003c0024t0001 a0003c0024t0028 a0004c0104t0005 a0005c0102t0001 a0006c0047t0003 a0007c0100t0003 a0009c0025t0002 a0026c0129t0002 a0032c0106t0001 a0039c0105t0026	a0001c0018t0001g0041 a0001c0018t0001g0216 a0001c0018t0003g0266 others(25): Show a0001c0018t0001g0041 a0001c0018t0001g0216 a0001c0018t0003g0266 a0001c0018t0006g0258 a0001c0018t0016g0215 a0001c0048t0004g0269 a0001c0048t0004g0273 a0001c0101t0016g0016 a0002c0031t0002g0262 a0002c0031t0002g0272 a0002c0031t0002g0279 a0002c0103t0002g0271 a0003c0024t0001g0227 a0003c0024t0001g0259 a0003c0024t0001g0268 a0003c0024t0001g0281 a0003c0024t0028g0267 a0004c0104t0005g0264 a0005c0102t0001g0226 a0006c0047t0003g0261 a0007c0100t0003g0225 a0009c0025t0002g0016 a0009c0025t0002g0034 a0009c0025t0002g0260 a0009c0025t0002g0263 a0026c0129t0002g0034 a0032c0106t0001g0231 a0039c0105t0026g0256	29	408	0.0711	-148	c.987 others(17): Show c.987+1398_987+1545del	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESR1_chr6_151802682_152108274	152103954	GATTACTG others(141): Show GATTACTGTTTGAATCTTCATTCTACCTTTTTTTTTTTTTTTTTTTTTGC ATCACCTTGGGCAAGTTGAGTTCCCTGGGCCTCAGTTTCTTGACTTGTAA AGAGAGATGACAGTGCATCTGCCTGGAAGGGTTCTTTTATGAAGACCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03098.hp1 HG03139.hp2 others(2): Show HG02622.hp2 HG03098.hp1 HG03139.hp2 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0012	a0001c0001t0008 a0001c0002t0008 a0001c0006t0033 others(1): Show a0001c0001t0008 a0001c0002t0008 a0001c0006t0033 a0001c0012t0008	a0001c0001t0008g0021 a0001c0002t0008g0196 a0001c0002t0008g0248 others(2): Show a0001c0001t0008g0021 a0001c0002t0008g0196 a0001c0002t0008g0248 a0001c0006t0033g0013 a0001c0012t0008g0017	5	250	0.0200	-148	c.49 others(11): Show c.4989_*5136del	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding		681		chr6	TogoVar
ETFB_chr19_51340169_51371388	51353735	CCCTCAGA others(141): Show CCCTCAGACCCAGGGGTCCAGACTTCCAGCCTCCTCCTCCCTCAGACCCA GGAGTCCAGGTCCCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGGCCC CATCCCCTCCTTCCTCAGACCCAGGAATCCAGGCCCCCATCCCCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG02145.hp2 others(10): Show HG01243.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0076 a0001c0001t0001g0077 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0306	13	436	0.0298	-148	c.216 others(15): Show c.216+267_216+414del	ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	2/5			chr19	TogoVar

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