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
FOXN3_chr14_89151177_89422233	89362239	ACCACCAC others(122): Show ACCACCACCTCCAGCACCACCACCACCTCCTCCTCCTCCACCACCACCAC CTCCACCACCACCACCACCACCTCCAGCACCACCTCTACCACCACCACCT CCAGCACCACCACCACCTCCTCCTCCTCCT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19068.hp1 HG02145.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0016 a0001c0001t0009 a0001c0001t0016	a0001c0001t0009g0079 a0001c0001t0016g0222 a0001c0001t0009g0079 a0001c0001t0016g0222	2	230	0.0087	-129	c.544 others(19): Show c.544-11560_544-11432del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GABRG3_chr15_26966181_27546984	27003800	TGGGCAGA others(122): Show TGGGCAGAGGCGCCCCTCACCTCCAGGACGGGGTGGCTGGCCGGGCGGGG GGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0089 a0001c0009t0002g0089	1	92	0.0109	-129	c.203 others(19): Show c.203-22930_203-22802del	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27003824	AGGACGGG others(122): Show AGGACGGGGTGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCACCTCCCTC CCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19240.hp2 HG02572.hp1 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0011 a0001c0005t0002 a0001c0004t0011 a0001c0005t0002	a0001c0004t0011g0060 a0001c0005t0002g0067 a0001c0004t0011g0060 a0001c0005t0002g0067	2	92	0.0217	-129	c.203 others(19): Show c.203-22921_203-22793del	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GAK_chr4_844277_937316	918848	ACCCCATG others(122): Show ACCCCATGACCTTAGAAAGACAGAAGGCTCCAAAGGCCTCAGCGCCCCAT GACCTTAGAAAGACAGAAGGCTCCAAAGGCCTCAGTGCCCCATGACCTTA GAAAGACAGAAGGCTCCAAAGGCCTCAGTG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02080.hp2 NA18947.hp2 others(1): Show HG02056.hp1 HG02080.hp2 NA18947.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0139 a0001c0001t0002g0137 a0001c0001t0002g0140 others(1): Show a0001c0001t0001g0139 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0004g0138	4	390	0.0103	-129	c.146 others(17): Show c.146-5309_146-5181del	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GALNT7_chr4_173163811_173328967	173178004	AGTCTGTG others(122): Show AGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG CGCGCACGCGCGTGCGCACAGACACCTATGTATATATATTTTAGTTGTGA TCATATATAATACTATATAAGATAGATATT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03579.hp2 NA18522.hp1 others(2): Show HG02809.hp2 HG03579.hp2 NA18522.hp1 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0240 a0001c0002t0002g0241 others(2): Show a0001c0002t0002g0020 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243	5	266	0.0188	-129	c.126 others(17): Show c.126+9045_126+9173del	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALR1_chr18_77244848_77282900	77252881	TCACCACC others(122): Show TCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCATCACCACCATCACCACCACCATCACCACCAT CACCACCATCACCACCACCACCACCACCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01255.hp1 HG02155.hp1 others(1): Show HG00099.hp2 HG01255.hp1 HG02155.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0251 others(1): Show a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0251 a0001c0002t0004g0143	4	366	0.0109	-129	c.666 others(17): Show c.666+1691_666+1819del	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GSG1L_chr16_27782528_28068714	27805590	GGGGGTGG others(122): Show GGGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGGGTGGGGGGAGGGCT GTGGGCACTGGGATTGGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGG GGTGGGGGGAGGGCTGTGGGCACTGGGATT	G G	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0134 a0001c0002t0003g0134	1	240	0.0042	-129	c.898 others(17): Show c.898+1768_898+1896del	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	6/6			chr16	TogoVar
H1-7_chr12_48323980_48335279	48332473	TCCACCTC others(122): Show TCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGGCCGACCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00558.hp1 others(66): Show HG00323.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01433.hp2 HG01891.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02083.hp2 HG02132.hp2 HG02300.hp2 HG02523.hp1 HG02698.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03834.hp2 HG03942.hp2 NA18612.hp2 NA18940.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18979.hp2 NA18980.hp1 NA18990.hp1 NA18992.hp2 NA18993.hp2 NA19009.hp1 NA19056.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0005 a0001c0001 a0003c0003 a0005c0005	a0001c0001t0001 a0003c0003t0001 a0005c0005t0001 a0001c0001t0001 a0003c0003t0001 a0005c0005t0001	a0001c0001t0001g0000 a0003c0003t0001g0000 a0005c0005t0001g0000 a0001c0001t0001g0000 a0003c0003t0001g0000 a0005c0005t0001g0000	69	424	0.1627	-129	c.24 others(11): Show c.2415_*2543del	H1-7	ENSG00000187166.1	transcript	ENST00000335017.1	protein_coding		2195		chr12	TogoVar
HAO1_chr20_7877985_7945458	7903524	GGTGGTGG others(122): Show GGTGGTGGTGGTGGAGGTGGTGGTGGTTGTCTTGGTAATGGTGGTGTTGA TGGTGGTTGTGGTTATGGCGCTGGTGGTGGTGGTGGTCATAGTGGTGATG GGAGTGGTGATGGTGGTGGTGATGATAGCA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	348	0.0029	-129	c.721 others(17): Show c.721+2501_721+2629del	HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	4/7			chr20	TogoVar
HLA-F_chr6_29718434_29732296	29722752	GAGAAGGA others(122): Show GAGAAGGAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG01109.hp2 others(79): Show HG00099.hp1 HG00738.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01884.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02293.hp2 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02698.hp1 HG02735.hp2 HG02818.hp1 HG02897.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03942.hp1 HG04199.hp1 HG06807.hp2 NA18906.hp1 NA18940.hp2 NA18942.hp1 NA18947.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18969.hp1 NA18973.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18999.hp2 NA19005.hp2 NA19009.hp2 NA19054.hp1 NA19056.hp2 NA19066.hp2 NA19072.hp1 NA19074.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19089.hp2 NA19091.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0017 others(2): Show a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0017 a0002c0002t0001g0021 a0002c0002t0001g0035	82	443	0.1851	-129	c.-71 others(9): Show c.-711_-583del	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		681		chr6	TogoVar
HRH3_chr20_62209960_62225278	62213390	GTGGGGGA others(122): Show GTGGGGGAAGGAGAGCGGGGATGGGTGGGGGAAGGAGAGCGGGGATGGGG GAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAGGGATGGGGGGTAAGGAG AGCGGGGATGGGGGGTAAGGAGAGCGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG01071.hp2 others(11): Show HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01175.hp2 HG01891.hp1 HG02055.hp2 HG02109.hp2 HG02148.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03209.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0001 a0001c0012t0009 a0001c0002t0001 a0001c0012t0009	a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0006 others(2): Show a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0012t0009g0053	14	368	0.0380	-129	c.24 others(11): Show c.2487_*2615del	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1569		chr20	TogoVar
IBA57_chr1_228160804_228187257	228174324	TGGGCGTG others(122): Show TGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTG GGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGG CGTGGCTCGCTGTGGGCGTGGCTCGCTGTG	T T	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0148 a0001c0001t0148	a0001c0001t0148g0097 a0001c0001t0148g0097	1	416	0.0024	-129	c.342 others(15): Show c.342-365_342-237del	IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL33_chr9_6210807_6262983	6217852	TTGAGAGT others(122): Show TTGAGAGTGAAGTGTCTAGGGCAAAGACCCGTATTTCCTCCTCTGCACTG TGCTTCTCCCGCTGAAGCATCCTTCTGTGCCACACTGGGGTCCTATACTG TTTCCAACAGTCTTACTTATTGCTTCTCAA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0318 a0001c0002t0002g0318	1	362	0.0028	-129	c.-12 others(17): Show c.-12+2001_-12+2129del	IL33	ENSG00000137033.12	transcript	ENST00000682010.1	protein_coding	1/7			chr9	TogoVar
ISG15_chr1_1008497_1019540	1016932	GCCCAAAG others(122): Show GCCCAAAGTGCTGGGATCACAAGCGTGAGTTACCGTGCCCTGTCTGTATT TATAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTAC TGACCTCAAGTGATCCGCCCACCTCGGCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG03017.hp2 HG04115.hp1 HG02683.hp2 HG03017.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	382	0.0079	-129	c.24 others(11): Show c.2455_*2583del	ISG15	ENSG00000187608.10	transcript	ENST00000649529.1	protein_coding		2393		chr1	TogoVar
ITIH2_chr10_7698316_7754520	7738071	TATATTAT others(122): Show TATATTATATATTATATTCTATATATTATATATTATATTCTATATATTAT ATATTATATTCTATATATTATATATTATATTCTATATATTATATATTATA TTCTATATATTATATATTATATTCTATAAA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 NA18998.hp2 others(1): Show HG00609.hp1 HG00621.hp1 NA18998.hp2 NA19088.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0039 a0002c0003t0001g0183 a0002c0003t0001g0188 others(1): Show a0002c0003t0001g0039 a0002c0003t0001g0183 a0002c0003t0001g0188 a0002c0003t0001g0189	4	380	0.0105	-129	c.195 others(17): Show c.1958-525_1958-397del	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
JMY_chr5_79231131_79332211	79270387	ATAAAATA others(122): Show ATAAAATATATATTTACATAAATATTTAAAATATATATTTACATAAATAT TTAAAATATATATTTACATAAATATTTAAAATGTATATTTACATAAATAT TTACATAAAATATATATTTACATAAATATT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0038 a0005c0007t0038	a0005c0007t0038g0190 a0005c0007t0038g0190	1	342	0.0029	-129	c.103 others(19): Show c.1033-7491_1033-7363del	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JRK_chr8_142652460_142674967	142674001	GCAGATCA others(122): Show GCAGATCACCCATCTTCCTAATGAATAACGGCTGGGAATCGTTTCAGTCT AACCTCAGCAGAGCTCAGATCCCCTCATCTTCCTAATGAATAACGGCTGG GAATCGTTTCAGTCTAACCTCAGCAGAGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0007 a0003c0005t0007g0007	1	466	0.0022	-129	c.-46 others(11): Show c.-4661_-4533del	JRK	ENSG00000234616.9	transcript	ENST00000612905.2	protein_coding		4035		chr8	TogoVar
KALRN_chr3_124028369_124731325	124628153	CTCCCTCC others(122): Show CTCCCTCCCTTCCTTCCTTCCCTCCCTCCCTCCTTCATTCCCTCCCTCCC CCCCTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCCTCCCTCCCTTCTTC TTTCCTTCCCTCCTTCCCTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG01496.hp2 others(32): Show HG00735.hp1 HG01074.hp1 HG01496.hp2 HG02055.hp1 HG02071.hp1 HG02129.hp2 HG02145.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03688.hp1 NA18522.hp1 NA18612.hp1 NA18945.hp1 NA18947.hp1 NA18955.hp1 NA18964.hp1 NA18995.hp2 NA19002.hp2 NA19010.hp1 NA19077.hp1 NA19240.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0001c0006 others(22): Show a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0012 a0001c0014 a0001c0015 a0001c0018 a0001c0020 a0001c0022 a0001c0023 a0001c0029 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0036 a0001c0043 a0001c0050 a0001c0055 a0001c0062 a0001c0065 a0002c0076 a0003c0070	a0001c0002t0007 a0001c0002t0017 a0001c0004t0001 others(24): Show a0001c0002t0007 a0001c0002t0017 a0001c0004t0001 a0001c0004t0004 a0001c0006t0001 a0001c0008t0004 a0001c0009t0001 a0001c0012t0004 a0001c0014t0007 a0001c0015t0001 a0001c0018t0005 a0001c0020t0008 a0001c0022t0031 a0001c0023t0007 a0001c0029t0020 a0001c0031t0003 a0001c0032t0003 a0001c0033t0001 a0001c0034t0001 a0001c0036t0002 a0001c0043t0006 a0001c0050t0005 a0001c0055t0001 a0001c0062t0019 a0001c0065t0009 a0002c0076t0001 a0003c0070t0023	a0001c0002t0007g0020 a0001c0002t0017g0053 a0001c0004t0001g0111 others(32): Show a0001c0002t0007g0020 a0001c0002t0017g0053 a0001c0004t0001g0111 a0001c0004t0004g0113 a0001c0006t0001g0013 a0001c0006t0001g0025 a0001c0006t0001g0069 a0001c0008t0004g0021 a0001c0008t0004g0022 a0001c0009t0001g0065 a0001c0009t0001g0070 a0001c0009t0001g0072 a0001c0012t0004g0107 a0001c0014t0007g0115 a0001c0014t0007g0116 a0001c0015t0001g0046 a0001c0015t0001g0097 a0001c0018t0005g0009 a0001c0020t0008g0083 a0001c0020t0008g0084 a0001c0022t0031g0062 a0001c0023t0007g0039 a0001c0029t0020g0114 a0001c0031t0003g0018 a0001c0032t0003g0090 a0001c0033t0001g0037 a0001c0034t0001g0030 a0001c0036t0002g0054 a0001c0043t0006g0106 a0001c0050t0005g0042 a0001c0055t0001g0031 a0001c0062t0019g0074 a0001c0065t0009g0093 a0002c0076t0001g0068 a0003c0070t0023g0086	35	116	0.3017	-129	c.518 others(19): Show c.5183-4257_5183-4129del	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	34/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20061995	TAAAACAT others(122): Show TAAAACATATAATATATATTATATATAAAACATAATATATATTATATATA AAACATATAATATATATTATATATAAAACATATAATATATATTATATATA AAACATATAATATATATTATATAAAACATA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0338 a0001c0005t0001g0338	1	374	0.0027	-129	c.304 others(19): Show c.304-10337_304-10209del	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17			chr3	TogoVar
KLKB1_chr4_186222507_186263471	186239714	GGACAGTG others(122): Show GGACAGTGATATTGTTATAGTTATAGGAAACTAGTACAGTGATACTGTTA GAGTTATAGGTACAGTGATATAGGACAGTGATATTGTTATAGTTATAGGA AACTAGTACAGTGATACTGTTATAGTTATA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0259 a0002c0004t0001g0259	1	432	0.0023	-129	c.598 others(17): Show c.598+1351_598+1479del	KLKB1	ENSG00000164344.17	transcript	ENST00000264690.11	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
LAMA2_chr6_128878138_129521566	129286724	TAATATAT others(122): Show TAATATATTATATAATATATAATAATATATAATATATTATATAATATATA ATAATATATAATATATTATATAATATATAATAATATATAATATATTATAT AATATATAATAATATATAATATATTATATA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0057 a0001c0012t0001g0057	1	88	0.0114	-129	c.253 others(18): Show c.2538-1121_2538-993del	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	18/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LIAT1_chr17_405325_419666	417756	ACAGTGTT others(122): Show ACAGTGTTTGATGGCTACAGAGACCTAGAACGTGGAGCAGGGCAGGGCAG CCCAACAGGATGCAGTGTTTGATGGCTACAGAGACCTAGAACGTGGAGCG GGGCAGGACATCCCAGCAGCCAGGTGAATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0028 a0028	a0028c0030 a0028c0030	a0028c0030t0003 a0028c0030t0003	a0028c0030t0003g0002 a0028c0030t0003g0002	1	434	0.0023	-129	c.36 others(11): Show c.3642_*3770del	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding		3091		chr17	TogoVar
LRBA_chr4_150259435_151020284	150658509	CCCTCTCC others(122): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTGCCTCTCCCT	C C	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	180	0.0056	-129	c.592 others(21): Show c.5921+24913_5921+25041del	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LY6E_chr8_143013529_143027409	143014684	TGTGTGAG others(122): Show TGTGTGAGGAGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTCCCGTGTGAG GAGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTGCTGTGTGAGGAGGAGGA GGGAGTCCTGTGTGAGGAGGAGGGAGTGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0004 a0002c0003t0003g0004	1	377	0.0027	-129	c.-39 others(11): Show c.-3959_-3831del	LY6E	ENSG00000160932.11	transcript	ENST00000292494.11	protein_coding		3844		chr8	TogoVar
LY6E_chr8_143013529_143027409	143014814	GTGTGAGG others(122): Show GTGTGAGGAGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTCCCGTGTGAGG AGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTGCTGTGTGAGGAGGAGGAG GGAGTCCTGTGTGAGGAGGAGGGAGTGCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	377	0.0027	-129	c.-38 others(11): Show c.-3829_-3701del	LY6E	ENSG00000160932.11	transcript	ENST00000292494.11	protein_coding		3714		chr8	TogoVar
LY6E_chr8_143013529_143027409	143014834	CGTGTGAG others(122): Show CGTGTGAGGAGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTCCCGTGTGAG GAGGAGGGAGTGCTGTGTGAGGAGGAGGAGGGAGTCCTGTGTGAGGAGGA GGGAGTGCCATGTGAGGAGGAGGGAGTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03927.hp2 HG04199.hp2 HG03688.hp1 HG03927.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	377	0.0080	-129	c.-38 others(11): Show c.-3809_-3681del	LY6E	ENSG00000160932.11	transcript	ENST00000292494.11	protein_coding		3694		chr8	TogoVar
LY6E_chr8_143013529_143027409	143015591	GGAGGAGG others(122): Show GGAGGAGGGAGTCCTGTGTGAGGAGGAGGGAGTCCCGTGTGAGGAGGAGG AGGGAGTCCTGTGTGAGGAGGAAGGAGTCCCATGTGAGGAGGAGGAGGGA GTCCTGTGTGAGGAGGAGGGAGTGCTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp1 others(72): Show HG00099.hp1 HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01928.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02523.hp1 HG02970.hp2 HG03239.hp1 HG03492.hp2 HG03654.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18943.hp2 NA18955.hp1 NA18963.hp1 NA18966.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp2 NA18978.hp1 NA18980.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18992.hp1 NA19003.hp1 NA19004.hp2 NA19054.hp1 NA19057.hp2 NA19058.hp1 NA19064.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0002c0006	a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 a0001c0005t0001 a0002c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0005g0002 a0001c0004t0001g0009 a0001c0005t0001g0002 a0002c0006t0001g0009	75	377	0.1989	-129	c.-30 others(11): Show c.-3052_-2924del	LY6E	ENSG00000160932.11	transcript	ENST00000292494.11	protein_coding		2937		chr8	TogoVar
MBP_chr18_76973833_77137783	77028531	CGGGCAGA others(122): Show CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CCACCTCCCTCCCGGACGGGGCAGCTGGCT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01361.hp2 HG02015.hp2 others(10): Show HG00673.hp1 HG01361.hp2 HG02015.hp2 HG02080.hp2 HG02165.hp1 HG02602.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18992.hp1 NA18992.hp2 NA19004.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0019 a0001c0002t0049	a0001c0001t0003g0066 a0001c0001t0004g0217 a0001c0001t0005g0234 others(10): Show a0001c0001t0003g0066 a0001c0001t0004g0217 a0001c0001t0005g0234 a0001c0001t0006g0285 a0001c0001t0015g0365 a0001c0001t0026g0376 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0184 a0001c0002t0002g0297 a0001c0002t0006g0288 a0001c0002t0019g0286 a0001c0002t0049g0380	13	396	0.0328	-129	c.140 others(19): Show c.140-11392_140-11264del	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MIER2_chr19_300573_349796	303066	ATCAGACT others(122): Show ATCAGACTCAATACACCAAAGCACATCCTCATCAGACTCCTCAATACACC AAAGCACATCCTCATCAGACACCTCAATACACCAAAGTACATCCTCATCA GACACCTCAATACACCACAGCACATCCTCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0089 a0001c0002t0002g0089	1	384	0.0026	-129	c.34 others(11): Show c.3495_*3623del	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding		2506		chr19	TogoVar
MLPH_chr2_237482251_237560322	237544521	TGGGGGGG others(122): Show TGGGGGGGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGAC ATTGTTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGG TCAGTGGTGATTGGGCACTGTAGTGAGTGG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02886.hp1 NA18948.hp1 others(1): Show HG02280.hp2 HG02886.hp1 NA18948.hp1 NA18980.hp2	a0003 a0004 a0029 a0003 a0004 a0029	a0003c0003 a0004c0005 a0029c0034 a0003c0003 a0004c0005 a0029c0034	a0003c0003t0002 a0003c0003t0003 a0004c0005t0001 others(1): Show a0003c0003t0002 a0003c0003t0003 a0004c0005t0001 a0029c0034t0017	a0003c0003t0002g0023 a0003c0003t0003g0241 a0004c0005t0001g0189 others(1): Show a0003c0003t0002g0023 a0003c0003t0003g0241 a0004c0005t0001g0189 a0029c0034t0017g0129	4	286	0.0140	-129	c.153 others(19): Show c.1539+1867_1540-1952del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED1_chr22_43407014_43512848	43495740	GTAGTGGT others(122): Show GTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGAGATGGTGGTGGTGGA GGTGGTGATGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGG TGGTGGAGATGGTGGTGGTGGTGGTGGAGA	G G	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0093 a0001c0002t0002g0093	1	250	0.0040	-129	c.633 others(17): Show c.633-2493_633-2365del	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRM1_chr17_36596583_36613964	36613123	AAATCAAG others(122): Show AAATCAAGGCTGGCACCCCAGATCCCTGCTGCAGGCCTGGAATATTTTTT TGGCAGGAGGCTAAATTGTCAATCCCCCTCCCCCTAGGTTGGGGTCCTGA ATTAGACAGCACACCTCCCACCCCCGCTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	395	0.0025	-129	c.47 others(11): Show c.4709_*4837del	MRM1	ENSG00000278619.5	transcript	ENST00000614766.5	protein_coding		4160		chr17	TogoVar
MSLN_chr16_755734_773862	767657	GGGGGGAG others(122): Show GGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGTGTG GGGGGGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCG TGGAGGAGGGGCGCGTGGAGGGGGGAGCGT	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02970.hp1 HG03041.hp2 HG02717.hp2 HG02970.hp1 HG03041.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0005 a0007c0016t0005	a0007c0016t0005g0012 a0007c0016t0005g0229 a0007c0016t0005g0012 a0007c0016t0005g0229	3	388	0.0077	-129	c.159 others(17): Show c.1596+193_1596+321del	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYO1F_chr19_8515778_8582442	8543786	CTGGTGGT others(122): Show CTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCTGGTGGTGG TGGTGGTGGTGCTGGTGGTGGTGGTGGTGG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0122 a0001c0002t0003g0122	1	342	0.0029	-129	c.152 others(17): Show c.1524+382_1524+510del	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYOM2_chr8_2040046_2150456	2085465	ACCGCTGT others(122): Show ACCGCTGTCGTGATCTCCGCGTGGCCCCTCACTGTTGTGATCTCCGCGTG GCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCG TGGCCCCACTGTTGTGATCTCTGCGTGGCC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp2 NA20300.hp1 HG02559.hp2 HG03098.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0020 a0002c0006 a0001c0020 a0002c0006	a0001c0020t0001 a0002c0006t0001 a0001c0020t0001 a0002c0006t0001	a0001c0020t0001g0030 a0002c0006t0001g0118 a0002c0006t0001g0140 a0001c0020t0001g0030 a0002c0006t0001g0118 a0002c0006t0001g0140	3	403	0.0074	-129	c.164 others(16): Show c.1644+78_1644+206del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1L_chr2_1784113_2336275	2032295	CCCAGTGC others(122): Show CCCAGTGCCTCTCATCCTGTGGCCCAGAGCAGATTCTAGAAGGAGGGCCT TATACACACACCCGTCGCCAGTGCCTCTCATCCTGTGGCCCAGAGCAGAT TCTAGAAGGAGGGCCTTACACACACCCTCG	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0092 a0001c0005t0012g0092	1	104	0.0096	-129	c.-15 others(21): Show c.-158+21554_-158+21682del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2113798	TATTACTG others(122): Show TATTACTGCCTCCATTACACAGATAGGAAAATAGTTATGAAAACATTACT GCCTCCATTACACAGATAGGAAAATAGTTATGAAAACATTACTGCCTCCA TTACACAGATAGGAAAACAGTTATGAAAAC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	104	0.0096	-129	c.-30 others(21): Show c.-304+58945_-304+59073del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	3/24			chr2	TogoVar
NAXD_chr13_110610545_110644996	110632065	CTCGCGGT others(122): Show CTCGCGGTGAGTGTTACAGCTCTTAAGGTGGCGCGTCTGGAGTCTGTTCC TTCTGATGTTCAGATGTGTTCGGAGTTTCTTCCTTCTGGTGGGTTCGTGG TCTCTGTCTCAGGAGTGAGGCTACAGACCT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG00738.hp2 others(67): Show HG00609.hp1 HG00621.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02027.hp1 HG02132.hp2 HG02148.hp1 HG02273.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03486.hp1 HG03579.hp2 HG04204.hp2 NA18940.hp2 NA18941.hp2 NA18946.hp2 NA18949.hp2 NA18951.hp1 NA18957.hp2 NA18959.hp1 NA18969.hp2 NA18975.hp1 NA18977.hp1 NA18984.hp1 NA18988.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19056.hp2 NA19070.hp2 NA19085.hp2 NA19091.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0009 a0001c0010 others(2): Show a0001c0001 a0001c0009 a0001c0010 a0004c0004 a0007c0007	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(7): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0009t0008 a0001c0010t0006 a0004c0004t0008 a0007c0007t0025	a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0013 others(36): Show a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0006g0003 a0001c0001t0006g0008 a0001c0001t0006g0033 a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0006g0101 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0006g0109 a0001c0001t0008g0024 a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0008g0054 a0001c0001t0008g0055 a0001c0001t0008g0057 a0001c0001t0023g0003 a0001c0001t0024g0003 a0001c0001t0026g0111 a0001c0009t0008g0056 a0001c0010t0006g0008 a0004c0004t0008g0058 a0007c0007t0025g0059	70	392	0.1786	-129	c.442 others(17): Show c.442-2452_442-2324del	NAXD	ENSG00000213995.12	transcript	ENST00000680254.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
NCOR2_chr12_124319415_124572612	124373536	GTGAGGCC others(122): Show GTGAGGCCAGTGCGTGCGCAGGGGCCCCGGGCACAGTGGGCAGTGAGGCC AGTGCGTGCGCAGGGGCCCCGGGCACAGTGGGCAGTGAGGCCAGTGCGTG CGCAGGGGCCCCGGGCACAGTGGACAATCA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp1 HG03540.hp1 others(1): Show HG01243.hp1 HG02559.hp1 HG03540.hp1 NA18522.hp1	a0002 a0005 a0002 a0005	a0002c0015 a0002c0040 a0002c0106 others(1): Show a0002c0015 a0002c0040 a0002c0106 a0005c0064	a0002c0015t0005 a0002c0040t0036 a0002c0106t0014 others(1): Show a0002c0015t0005 a0002c0040t0036 a0002c0106t0014 a0005c0064t0028	a0002c0015t0005g0140 a0002c0040t0036g0151 a0002c0106t0014g0203 others(1): Show a0002c0015t0005g0140 a0002c0040t0036g0151 a0002c0106t0014g0203 a0005c0064t0028g0161	4	234	0.0171	-129	c.221 others(17): Show c.2218+748_2218+876del	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	21/48			chr12	TogoVar
NEU4_chr2_241804193_241822413	241807564	ACCTTCCC others(122): Show ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	319	0.0031	-129	c.-17 others(11): Show c.-1713_-1585del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1628		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79408886	ATCCATCC others(122): Show ATCCATCCATCATCCATCCATCATCATCCATCCATTATTCCTCCATTCCC TATCCATTCATTCATCATCCATCCATCCATCATCATCCATCCATCATCAA ACCATTATTCCTCCATTCCCTATCCATCCG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01106.hp2 others(47): Show HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01884.hp1 HG01891.hp1 HG01952.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02897.hp2 HG02922.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18995.hp1 NA19000.hp2 NA19043.hp2 NA19240.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(13): Show a0001c0001 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0015 a0001c0021 a0001c0028 a0001c0053 a0001c0055 a0001c0056 a0002c0011 a0002c0012 a0002c0023	a0001c0001t0001 a0001c0004t0002 a0001c0004t0003 others(30): Show a0001c0001t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0006 a0001c0004t0051 a0001c0005t0005 a0001c0008t0002 a0001c0008t0003 a0001c0008t0004 a0001c0008t0012 a0001c0009t0040 a0001c0010t0002 a0001c0010t0005 a0001c0010t0028 a0001c0010t0029 a0001c0013t0005 a0001c0013t0007 a0001c0013t0025 a0001c0013t0056 a0001c0015t0002 a0001c0015t0007 a0001c0015t0010 a0001c0021t0003 a0001c0028t0007 a0001c0028t0018 a0001c0053t0003 a0001c0055t0045 a0001c0056t0009 a0002c0011t0002 a0002c0011t0004 a0002c0012t0027 a0002c0023t0019	a0001c0001t0001g0259 a0001c0001t0001g0264 a0001c0004t0002g0075 others(47): Show a0001c0001t0001g0259 a0001c0001t0001g0264 a0001c0004t0002g0075 a0001c0004t0002g0300 a0001c0004t0002g0301 a0001c0004t0003g0148 a0001c0004t0004g0078 a0001c0004t0006g0099 a0001c0004t0051g0074 a0001c0005t0005g0056 a0001c0005t0005g0083 a0001c0005t0005g0111 a0001c0008t0002g0060 a0001c0008t0002g0062 a0001c0008t0002g0065 a0001c0008t0002g0077 a0001c0008t0003g0151 a0001c0008t0003g0162 a0001c0008t0004g0085 a0001c0008t0012g0009 a0001c0009t0040g0189 a0001c0010t0002g0080 a0001c0010t0005g0126 a0001c0010t0028g0004 a0001c0010t0028g0079 a0001c0010t0029g0081 a0001c0010t0029g0125 a0001c0013t0005g0114 a0001c0013t0005g0310 a0001c0013t0007g0112 a0001c0013t0007g0113 a0001c0013t0025g0046 a0001c0013t0056g0110 a0001c0015t0002g0067 a0001c0015t0007g0285 a0001c0015t0010g0271 a0001c0021t0003g0161 a0001c0028t0007g0127 a0001c0028t0018g0082 a0001c0053t0003g0180 a0001c0055t0045g0008 a0001c0056t0009g0137 a0002c0011t0002g0052 a0002c0011t0002g0053 a0002c0011t0004g0050 a0002c0012t0027g0038 a0002c0012t0027g0040 a0002c0023t0019g0317 a0002c0023t0019g0318 a0002c0023t0019g0319	50	322	0.1553	-129	c.128 others(17): Show c.128-1422_128-1294del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NGEF_chr2_232873701_233018256	232906216	TGGGGGGG others(122): Show TGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGA GGGGCGCCTCTGCCCGGCAGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCACCACCCCGTGTGGGAGGGAGGTG	T T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18959.hp2 NA18944.hp2 NA18959.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0008 a0001c0004 a0002c0008	a0001c0004t0004 a0002c0008t0004 a0001c0004t0004 a0002c0008t0004	a0001c0004t0004g0219 a0002c0008t0004g0091 a0001c0004t0004g0219 a0002c0008t0004g0091	2	362	0.0055	-129	c.829 others(19): Show c.829-11429_829-11301del	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NLRP8_chr19_55942832_55993629	55993485	CCCTCTCC others(122): Show CCCTCTCCCCCCTCCCCTCCTCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTCTCCCCTCCTCTC CTCCCCCCTCCTCCTCTCAACCTCCCCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0124 a0001c0001t0005g0124	1	350	0.0029	-129	c.55 others(11): Show c.5573_*5701del	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4857		chr19	TogoVar
NOC4L_chr12_132139457_132157468	132149620	CACACCAC others(122): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCC CTAATCCCCTCGGTGAGTGCGGCCGCCTCG	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	294	0.0034	-129	c.901 others(15): Show c.901+726_901+854del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NRIP3_chr11_8975576_9009001	8978182	ACCCCGTC others(122): Show ACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGACCG GGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCTCCTCTGCCCGGCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	406	0.0025	-129	c.52 others(11): Show c.5234_*5362del	NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding		2393		chr11	TogoVar
NTN5_chr19_48656407_48678017	48669201	TCACCATC others(122): Show TCACCATCACCACCACCACCACCACGACCATCATCACCACCACCACCATC ACCACCACCACGACCATCATCACCACCACCACCATCACCACCACCATCAC CACCACCACCATCACCACCACCATCACCAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02630.hp2 others(11): Show HG01243.hp1 HG01884.hp2 HG02630.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0001t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0126 a0001c0002t0002g0010 a0001c0002t0002g0046 others(1): Show a0001c0001t0001g0126 a0001c0002t0002g0010 a0001c0002t0002g0046 a0001c0002t0003g0157	14	412	0.0340	-129	c.631 others(17): Show c.631+1026_631+1154del	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6			chr19	TogoVar
NUS1_chr6_117670469_117715727	117709121	TTCACCTG others(122): Show TTCACCTGCTAGTACAATCTCCACAACTTGAATGGCATTGGTTGTTCTGT AATTCCTGCCAAAAGCATCACAAGTTGTACATCATCAAGGCTCCCTTTGC ACTCCCAAGAAGAACTGGTAATTTTAAACA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0057 a0001c0001t0018g0057	1	430	0.0023	-129	c.21 others(11): Show c.2107_*2235del	NUS1	ENSG00000153989.8	transcript	ENST00000368494.4	protein_coding	5/5	2107		chr6	TogoVar
NXN_chr17_794310_984776	952634	GGTCAGAC others(122): Show GGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGGCTGGA	G G	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	242	0.0041	-129	c.360 others(19): Show c.360+26556_360+26684del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR4E1_chr14_21662886_21678818	21672326	GGCAGACT others(122): Show GGCAGACTAATGAGTCAACCCCACACTGCTTGTGAAATGTGGCAAAGAAG ATATTTTTGGGGCCAGAGAAGTCCTTCAGTTAACACTTAAAAATTAAACT CACTGTGTCCAGTGTTTGGATTAATATTTA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0040 a0003c0003t0003g0040	1	454	0.0022	-129	c.-18 others(15): Show c.-18+635_-18+763del	OR4E1	ENSG00000276240.4	transcript	ENST00000641792.2	protein_coding	1/1			chr14	TogoVar
OTUD7A_chr15_31470398_31875673	31510605	AACATACA others(122): Show AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02071.hp1 HG02132.hp2 others(2): Show HG00544.hp1 HG02071.hp1 HG02132.hp2 NA18984.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0008 a0001c0001 a0002c0003 a0002c0008	a0001c0001t0002 a0002c0003t0003 a0002c0008t0002 others(1): Show a0001c0001t0002 a0002c0003t0003 a0002c0008t0002 a0002c0008t0060	a0001c0001t0002g0166 a0001c0001t0002g0194 a0002c0003t0003g0142 others(2): Show a0001c0001t0002g0166 a0001c0001t0002g0194 a0002c0003t0003g0142 a0002c0008t0002g0188 a0002c0008t0060g0187	5	244	0.0205	-129	c.894 others(17): Show c.894-6916_894-6788del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar

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