Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
ASB5_chr4_176208673_176274222	176219360	AATATATA others(45): Show AATATATATATTTGTATGATATATAAATATATATATTTGTATGATATATA AAT	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02015.hp1 HG02015.hp2 others(12): Show HG01928.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02129.hp1 HG02135.hp1 HG02647.hp2 HG03688.hp1 HG04199.hp1 NA18961.hp2 NA18974.hp1 NA18978.hp1 NA18995.hp2 NA19054.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0191 others(12): Show a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0191 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0241 a0001c0001t0001g0337 a0001c0001t0019g0210	15	408	0.0368	-52	c.670 others(69): Show c.670+1743_670+1794delATTTATATATCATACAAATATATATATT TATATATCATACAAATATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176219392	ATATTTGT others(45): Show ATATTTGTATGATATATAAATATATATATGTATGATATATAAATATATAT ATT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03130.hp2 HG03139.hp1 HG02280.hp1 HG03130.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092	3	402	0.0075	-52	c.670 others(69): Show c.670+1711_670+1762delAATATATATATTTATATATCATACATAT ATATATTTATATATCATACAAATA	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176219417	ATATGTAT others(45): Show ATATGTATGATATATAAATATATATATTTGTATGATATATAAATATATAT ATT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	405	0.0025	-52	c.670 others(69): Show c.670+1686_670+1737delAATATATATATTTATATATCATACAAAT ATATATATTTATATATCATACATA	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASPG_chr14_104080700_104120582	104097809	AGTTCTAC others(45): Show AGTTCTACGTTAGAGATACGTATGGAGGTTCTGCGTTAGAGATGCATATG GAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01123.hp1 HG01168.hp2 others(10): Show HG01081.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG02055.hp1 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03239.hp2 NA18951.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0002c0026	a0001c0001t0004 a0002c0002t0002 a0002c0003t0006 others(1): Show a0001c0001t0004 a0002c0002t0002 a0002c0003t0006 a0002c0026t0006	a0001c0001t0004g0013 a0001c0001t0004g0024 a0001c0001t0004g0069 others(6): Show a0001c0001t0004g0013 a0001c0001t0004g0024 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0106 a0002c0002t0002g0192 a0002c0003t0006g0053 a0002c0003t0006g0232 a0002c0026t0006g0213	13	366	0.0355	-52	c.513 others(67): Show c.513+217_513+268delATATGGAGGTTCTACGTTAGAGATACGTAT GGAGGTTCTGCGTTAGAGATGC	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
ASPG_chr14_104080700_104120582	104098021	CTGCGTTA others(45): Show CTGCGTTAGAGATGCGTATGGAGGTTTTGCGTTAGAGATGCGTATGGAGG TTT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02647.hp1 HG03130.hp2 others(1): Show HG01981.hp1 HG02647.hp1 HG03130.hp2 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0025 a0002c0003t0011 a0001c0001t0001 a0001c0001t0025 a0002c0003t0011	a0001c0001t0001g0120 a0001c0001t0001g0137 a0001c0001t0025g0236 others(1): Show a0001c0001t0001g0120 a0001c0001t0001g0137 a0001c0001t0025g0236 a0002c0003t0011g0159	4	313	0.0128	-52	c.513 others(67): Show c.513+410_513+461delTTGCGTTAGAGATGCGTATGGAGGTTTTGC GTTAGAGATGCGTATGGAGGTT	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
ASPSCR1_chr17_81972629_82022406	81984945	ACCCGCAC others(45): Show ACCCGCACACACCCCACACACCTGCACACACCCACACACCTGCGTGCACA CCC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0170 a0001c0004t0001g0170	1	364	0.0027	-52	c.274 others(67): Show c.274-558_274-507delGCACACACCCCACACACCTGCACACACCCA CACACCTGCGTGCACACCCCCC	ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
ATG2B_chr14_96274195_96368341	96308205	TATATAAA others(45): Show TATATAAATACATAAATATATATATACATATATATATATATATATATACA CAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0008 a0006c0007t0008	a0006c0007t0008g0085 a0006c0007t0008g0085	1	354	0.0028	-52	c.430 others(71): Show c.4303+1196_4303+1247delGTGTGTATATATATATATATATATAT GTATATATATATTTATGTATTTATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41			chr14	TogoVar
ATL2_chr2_38288954_38382273	38325627	TACACACA others(45): Show TACACACACACACACACACACACACACACACCAGTACACACACACACACA CAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03098.hp1 HG01496.hp2 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0012 a0001c0003t0006 a0001c0003t0012	a0001c0003t0006g0003 a0001c0003t0012g0007 a0001c0003t0006g0003 a0001c0003t0012g0007	2	171	0.0117	-52	c.364 others(69): Show c.364-6660_364-6609delGTGTGTGTGTGTGTGTGTACTGGTGTGT GTGTGTGTGTGTGTGTGTGTGTGT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATL2_chr2_38288954_38382273	38325647	CACACACA others(45): Show CACACACACACCAGTACACACACACACACACACACACACACACACACACC AGT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19240.hp1 HG03130.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0115 a0001c0001t0002g0117	2	234	0.0085	-52	c.364 others(69): Show c.364-6680_364-6629delACTGGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTACTGGTGTGTGTGT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATL2_chr2_38288954_38382273	38325661	TACACACA others(45): Show TACACACACACACACACACACACACACACACACACCAGTACACACACACA CAC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	134	0.0075	-52	c.364 others(69): Show c.364-6694_364-6643delGTGTGTGTGTGTGTACTGGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATP10A_chr15_25673712_25868327	25758673	ACTCATTC others(45): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA20300.hp1 HG02809.hp2 NA20300.hp1	a0002 a0017 a0002 a0017	a0002c0076 a0017c0023 a0002c0076 a0017c0023	a0002c0076t0001 a0017c0023t0001 a0002c0076t0001 a0017c0023t0001	a0002c0076t0001g0027 a0017c0023t0001g0232 a0002c0076t0001g0027 a0017c0023t0001g0232	2	297	0.0067	-52	c.654 others(71): Show c.654+22294_654+22345delGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758809	ACTCATTC others(45): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACC	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18960.hp2 NA18977.hp1 HG02896.hp1 NA18960.hp2 NA18977.hp1	a0004 a0008 a0004 a0008	a0004c0004 a0008c0006 a0004c0004 a0008c0006	a0004c0004t0001 a0008c0006t0001 a0004c0004t0001 a0008c0006t0001	a0004c0004t0001g0114 a0004c0004t0001g0269 a0008c0006t0001g0204 a0004c0004t0001g0114 a0004c0004t0001g0269 a0008c0006t0001g0204	3	296	0.0101	-52	c.654 others(71): Show c.654+22158_654+22209delGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160652889	TTATATAA others(45): Show TTATATAATATATTATATATACATGTATATATAATATATTATATATACAT GTA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01346.hp2 HG01516.hp1 others(3): Show HG00323.hp1 HG01346.hp2 HG01516.hp1 HG02257.hp2 HG03041.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0002t0010 a0001c0005t0016 a0001c0001t0002 a0001c0002t0010 a0001c0005t0016	a0001c0001t0002g0174 a0001c0001t0002g0198 a0001c0002t0010g0008 others(3): Show a0001c0001t0002g0174 a0001c0001t0002g0198 a0001c0002t0010g0008 a0001c0002t0010g0111 a0001c0002t0010g0149 a0001c0005t0016g0109	6	93	0.0645	-52	c.676 others(69): Show c.676-3685_676-3634delTACATGTATATATAATATATTATATATA CATGTATATATAATATATTATATA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10D_chr4_47480275_47598486	47485808	CACACGGG others(45): Show CACACGGGCACGTACATACACGCATTCTCACACACCTTTGTACACGCGGG CAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(184): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18953.hp2 NA18955.hp1 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18968.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19081.hp1 NA19086.hp1 NA19089.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(35): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0019 a0020 a0021 a0023 a0024 a0026 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0036 a0037 a0038 a0039 a0040 a0042 a0044 a0048 a0049 a0050	a0001c0001 a0001c0003 a0002c0002 others(44): Show a0001c0001 a0001c0003 a0002c0002 a0002c0008 a0003c0004 a0003c0048 a0004c0005 a0004c0067 a0005c0006 a0005c0014 a0006c0007 a0006c0065 a0007c0009 a0009c0011 a0010c0012 a0011c0020 a0011c0025 a0011c0038 a0012c0013 a0013c0015 a0014c0017 a0016c0019 a0016c0042 a0017c0022 a0019c0021 a0020c0064 a0021c0029 a0023c0030 a0024c0028 a0026c0024 a0028c0061 a0029c0051 a0030c0055 a0031c0054 a0032c0056 a0033c0059 a0034c0058 a0036c0047 a0037c0060 a0038c0049 a0039c0052 a0040c0053 a0042c0035 a0044c0045 a0048c0062 a0049c0057 a0050c0039	a0001c0001t0004 a0001c0003t0001 a0002c0002t0001 others(54): Show a0001c0001t0004 a0001c0003t0001 a0002c0002t0001 a0002c0002t0004 a0002c0008t0001 a0002c0008t0015 a0003c0004t0005 a0003c0004t0006 a0003c0048t0006 a0004c0005t0005 a0004c0005t0006 a0004c0067t0007 a0005c0006t0001 a0005c0006t0002 a0005c0014t0004 a0006c0007t0001 a0006c0065t0001 a0007c0009t0001 a0007c0009t0002 a0009c0011t0001 a0009c0011t0016 a0010c0012t0005 a0010c0012t0006 a0010c0012t0009 a0011c0020t0009 a0011c0025t0009 a0011c0038t0005 a0012c0013t0008 a0013c0015t0005 a0013c0015t0009 a0014c0017t0006 a0016c0019t0004 a0016c0042t0001 a0017c0022t0001 a0019c0021t0009 a0020c0064t0001 a0021c0029t0001 a0023c0030t0005 a0024c0028t0008 a0026c0024t0004 a0028c0061t0001 a0029c0051t0006 a0030c0055t0006 a0031c0054t0001 a0032c0056t0001 a0033c0059t0001 a0034c0058t0008 a0036c0047t0004 a0037c0060t0001 a0038c0049t0001 a0039c0052t0001 a0040c0053t0001 a0042c0035t0012 a0044c0045t0006 a0048c0062t0006 a0049c0057t0008 a0050c0039t0001	a0001c0001t0004g0005 a0001c0001t0004g0047 a0001c0001t0004g0078 others(179): Show a0001c0001t0004g0005 a0001c0001t0004g0047 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0105 a0001c0001t0004g0114 a0001c0001t0004g0143 a0001c0001t0004g0171 a0001c0001t0004g0175 a0001c0001t0004g0179 a0001c0003t0001g0004 a0001c0003t0001g0018 a0001c0003t0001g0020 a0001c0003t0001g0028 a0001c0003t0001g0034 a0001c0003t0001g0037 a0001c0003t0001g0048 a0001c0003t0001g0052 a0001c0003t0001g0059 a0001c0003t0001g0068 a0001c0003t0001g0073 a0001c0003t0001g0103 a0001c0003t0001g0106 a0001c0003t0001g0108 a0001c0003t0001g0116 a0001c0003t0001g0177 a0001c0003t0001g0180 a0001c0003t0001g0310 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0050 a0002c0002t0001g0087 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0118 a0002c0002t0001g0122 a0002c0002t0001g0136 a0002c0002t0001g0144 a0002c0002t0001g0163 a0002c0002t0001g0165 a0002c0002t0004g0045 a0002c0008t0001g0016 a0002c0008t0001g0019 a0002c0008t0001g0126 a0002c0008t0001g0141 a0002c0008t0001g0145 a0002c0008t0001g0146 a0002c0008t0015g0104 a0003c0004t0005g0041 a0003c0004t0005g0044 a0003c0004t0005g0046 a0003c0004t0005g0057 a0003c0004t0005g0061 a0003c0004t0005g0072 a0003c0004t0005g0085 a0003c0004t0005g0089 a0003c0004t0005g0090 a0003c0004t0005g0092 a0003c0004t0005g0096 a0003c0004t0005g0132 a0003c0004t0005g0139 a0003c0004t0005g0140 a0003c0004t0005g0162 a0003c0004t0005g0169 a0003c0004t0005g0307 a0003c0004t0006g0033 a0003c0004t0006g0138 a0003c0048t0006g0102 a0004c0005t0005g0063 a0004c0005t0005g0131 a0004c0005t0005g0166 a0004c0005t0006g0007 a0004c0005t0006g0009 a0004c0005t0006g0121 a0004c0005t0006g0129 a0004c0005t0006g0133 a0004c0005t0006g0149 a0004c0005t0006g0168 a0004c0067t0007g0148 a0005c0006t0001g0032 a0005c0006t0001g0055 a0005c0006t0001g0086 a0005c0006t0001g0098 a0005c0006t0001g0099 a0005c0006t0001g0100 a0005c0006t0001g0101 a0005c0006t0001g0113 a0005c0006t0001g0142 a0005c0006t0001g0170 a0005c0006t0002g0035 a0005c0014t0004g0051 a0005c0014t0004g0053 a0005c0014t0004g0054 a0005c0014t0004g0058 a0006c0007t0001g0006 a0006c0007t0001g0030 a0006c0007t0001g0038 a0006c0007t0001g0039 a0006c0007t0001g0040 a0006c0007t0001g0042 a0006c0007t0001g0043 a0006c0007t0001g0156 a0006c0007t0001g0161 a0006c0007t0001g0178 a0006c0007t0001g0314 a0006c0065t0001g0176 a0007c0009t0001g0088 a0007c0009t0001g0093 a0007c0009t0001g0094 a0007c0009t0001g0095 a0007c0009t0001g0097 a0007c0009t0002g0036 a0009c0011t0001g0081 a0009c0011t0001g0134 a0009c0011t0001g0153 a0009c0011t0001g0154 a0009c0011t0001g0158 a0009c0011t0001g0159 a0009c0011t0001g0167 a0009c0011t0001g0174 a0009c0011t0016g0056 a0010c0012t0005g0067 a0010c0012t0006g0008 a0010c0012t0006g0065 a0010c0012t0006g0066 a0010c0012t0009g0003 a0010c0012t0009g0164 a0010c0012t0009g0312 a0011c0020t0009g0115 a0011c0025t0009g0124 a0011c0025t0009g0127 a0011c0038t0005g0062 a0012c0013t0008g0017 a0012c0013t0008g0029 a0012c0013t0008g0125 a0012c0013t0008g0128 a0013c0015t0005g0031 a0013c0015t0009g0091 a0013c0015t0009g0137 a0014c0017t0006g0123 a0014c0017t0006g0157 a0014c0017t0006g0160 a0016c0019t0004g0022 a0016c0019t0004g0023 a0016c0019t0004g0024 a0016c0042t0001g0111 a0017c0022t0001g0151 a0017c0022t0001g0152 a0019c0021t0009g0071 a0019c0021t0009g0074 a0019c0021t0009g0076 a0020c0064t0001g0309 a0021c0029t0001g0147 a0021c0029t0001g0150 a0023c0030t0005g0077 a0023c0030t0005g0172 a0024c0028t0008g0119 a0026c0024t0004g0069 a0026c0024t0004g0070 a0028c0061t0001g0155 a0029c0051t0006g0008 a0030c0055t0006g0311 a0031c0054t0001g0313 a0032c0056t0001g0064 a0033c0059t0001g0112 a0034c0058t0008g0075 a0036c0047t0004g0060 a0037c0060t0001g0308 a0038c0049t0001g0130 a0039c0052t0001g0135 a0040c0053t0001g0173 a0042c0035t0012g0021 a0044c0045t0006g0049 a0048c0062t0006g0007 a0049c0057t0008g0120 a0050c0039t0001g0117	187	330	0.5667	-52	c.-38 others(67): Show c.-38+301_-38+352delTACATACACGCATTCTCACACACCTTTGTA CACGCGGGCATACACGGGCACG	ATP10D	ENSG00000145246.14	transcript	ENST00000273859.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ATP11A_chr13_112685038_112892168	112804253	CCTCCTTC others(45): Show CCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCT TTT	C C	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19002.hp2 NA18962.hp1 NA19002.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0001 a0001c0006t0001 a0001c0005t0001 a0001c0006t0001	a0001c0005t0001g0087 a0001c0006t0001g0184 a0001c0005t0001g0087 a0001c0006t0001g0184	2	252	0.0079	-52	c.163 others(67): Show c.163-702_163-651delTCCTTCACCTCCCTCCCCCCATCCCCTCTC TGCCCTCCTTCCCCTCCTTTTC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804305	TCCTCCTT others(45): Show TCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGT TCC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03130.hp1 HG03710.hp2 others(1): Show HG02738.hp2 HG03130.hp1 HG03710.hp2 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0005 a0002c0003 a0001c0004 a0001c0005 a0002c0003	a0001c0004t0003 a0001c0004t0006 a0001c0005t0063 others(1): Show a0001c0004t0003 a0001c0004t0006 a0001c0005t0063 a0002c0003t0035	a0001c0004t0003g0149 a0001c0004t0006g0110 a0001c0005t0063g0130 others(1): Show a0001c0004t0003g0149 a0001c0004t0006g0110 a0001c0005t0063g0130 a0002c0003t0035g0031	4	215	0.0186	-52	c.163 others(67): Show c.163-604_163-553delGTTCCCCTCCTTCCCTCCTTCACCTCCCTC CCCCCATCCCCTCTCTGCCCTC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112864351	CAGCTTCC others(45): Show CAGCTTCCCAGCGGGGATCATCACCACGTGCGCCATAATTCAGCGTAGCG CGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03579.hp2 HG01891.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0017 a0001c0002 a0001c0017	a0001c0002t0041 a0001c0017t0060 a0001c0002t0041 a0001c0017t0060	a0001c0002t0041g0212 a0001c0017t0060g0053 a0001c0002t0041g0212 a0001c0017t0060g0053	2	252	0.0079	-52	c.299 others(71): Show c.2991+1777_2991+1828delAGCTTCCCAGCGGGGATCATCACCAC GTGCGCCATAATTCAGCGTAGCGCGT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29			chr13	TogoVar
ATP11A_chr13_112685038_112892168	112864352	AGCTTCCC others(45): Show AGCTTCCCAGCGGGGATCATCACCACGTGCGCCATAATTCAGCGTAGCGC GTG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG01099.hp2 others(6): Show HG00544.hp1 HG00558.hp1 HG01099.hp2 HG03239.hp1 NA18612.hp1 NA18944.hp1 NA18969.hp1 NA18969.hp2 NA18978.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0031 a0001c0039 others(1): Show a0001c0002 a0001c0031 a0001c0039 a0002c0003	a0001c0002t0007 a0001c0002t0018 a0001c0031t0007 others(3): Show a0001c0002t0007 a0001c0002t0018 a0001c0031t0007 a0001c0039t0039 a0002c0003t0007 a0002c0003t0026	a0001c0002t0007g0111 a0001c0002t0007g0237 a0001c0002t0007g0253 others(6): Show a0001c0002t0007g0111 a0001c0002t0007g0237 a0001c0002t0007g0253 a0001c0002t0018g0005 a0001c0031t0007g0160 a0001c0039t0039g0078 a0002c0003t0007g0185 a0002c0003t0007g0186 a0002c0003t0026g0241	9	252	0.0357	-52	c.299 others(71): Show c.2991+1778_2991+1829delGCTTCCCAGCGGGGATCATCACCACG TGCGCCATAATTCAGCGTAGCGCGTG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29			chr13	TogoVar
ATP11A_chr13_112685038_112892168	112890681	CGAGCCCT others(45): Show CGAGCCCTGTGTCCAGCATGGGGCCTGGGGTGCAGGAAGGACGCAGTGAC CAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0189 a0001c0002t0018g0189	1	252	0.0040	-52	c.88 others(63): Show c.8816_*8867delGAGCCCTGTGTCCAGCATGGGGCCTGGGGTGCAG GAAGGACGCAGTGACCAT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding		3514		chr13	TogoVar
ATP2B3_chrX_153512642_153587929	153513808	TGAGTGTG others(45): Show TGAGTGTGAGCGTGTGTGTGTGTTTCTGTGTGTGTGTGTCTGTGCATGGA TGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02486.hp1 others(2): Show HG02109.hp2 HG02257.hp2 HG02486.hp1 HG02809.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0015	a0001c0001t0021 a0001c0001t0028 a0001c0003t0007 others(2): Show a0001c0001t0021 a0001c0001t0028 a0001c0003t0007 a0001c0004t0009 a0001c0015t0009	a0001c0001t0021g0222 a0001c0001t0028g0232 a0001c0003t0007g0223 others(2): Show a0001c0001t0021g0222 a0001c0001t0028g0232 a0001c0003t0007g0223 a0001c0004t0009g0231 a0001c0015t0009g0221	5	265	0.0189	-52	c.-43 others(63): Show c.-4313_-4262delGAGTGTGAGCGTGTGTGTGTGTTTCTGTGTGTGT GTGTCTGTGCATGGATGA	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		3833		chrX	TogoVar
ATP8A2_chr13_25366974_26030851	25371383	TGTGTGTG others(45): Show TGTGTGTGTGTGTGTGTCGATGGGTCTGTGTGTGTGTGTGTGTGTGTCGA TGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG00741.hp1 others(31): Show HG00642.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02273.hp1 HG02698.hp2 HG02965.hp1 HG03654.hp1 HG03654.hp2 HG06807.hp2 NA18906.hp1 NA18952.hp2 NA18977.hp2 NA18986.hp1 NA19004.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(24): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0035 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0046 a0001c0001t0051 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009 a0001c0002t0029 a0001c0002t0031 a0001c0002t0063 a0001c0003t0018 a0001c0003t0027 a0001c0003t0052 a0001c0003t0065 a0001c0004t0002 a0001c0004t0004 a0001c0004t0022 a0001c0005t0021	a0001c0001t0001g0036 a0001c0001t0004g0040 a0001c0001t0004g0046 others(31): Show a0001c0001t0001g0036 a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0011g0061 a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0017g0051 a0001c0001t0018g0041 a0001c0001t0035g0043 a0001c0001t0040g0038 a0001c0001t0041g0044 a0001c0001t0042g0059 a0001c0001t0046g0045 a0001c0001t0051g0053 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0060 a0001c0002t0002g0037 a0001c0002t0004g0056 a0001c0002t0005g0034 a0001c0002t0009g0042 a0001c0002t0029g0052 a0001c0002t0031g0058 a0001c0002t0063g0050 a0001c0003t0018g0057 a0001c0003t0027g0047 a0001c0003t0052g0113 a0001c0003t0065g0033 a0001c0004t0002g0049 a0001c0004t0004g0048 a0001c0004t0022g0054 a0001c0005t0021g0030	34	120	0.2833	-52	c.-82 others(61): Show c.-829_-778delGTGTGTGTGTGTGTGTCGATGGGTCTGTGTGTGTGT GTGTGTGTGTCGATGG	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding		590		chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25531346	ATATATAT others(45): Show ATATATATGTTATATATGATATATATATGTTATATATATGATATATATAT GAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0116 a0001c0001t0074g0116	1	119	0.0084	-52	c.420 others(67): Show c.420+694_420+745delGTTATATATGATATATATATGTTATATATA TGATATATATATGATTATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57787400	GCACTGCG others(45): Show GCACTGCGGGAGGAGCTCCATCTAGAACACTGCGGGAGGAGCTCCATCTA GAA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp2 HG00741.hp2 others(27): Show HG00544.hp1 HG00642.hp2 HG00741.hp2 HG01099.hp2 HG01109.hp2 HG01168.hp1 HG01175.hp2 HG01257.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01517.hp2 HG01943.hp1 HG01952.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02074.hp1 HG02293.hp1 HG02293.hp2 HG02683.hp1 HG03491.hp1 HG03491.hp2 HG03834.hp2 NA18968.hp1 NA18978.hp2 NA18991.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0011 a0001c0001 a0002c0002 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0036 a0001c0001t0038 a0002c0002t0019 a0008c0011t0006	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(27): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0049 a0001c0001t0002g0298 a0001c0001t0004g0120 a0001c0001t0004g0126 a0001c0001t0004g0129 a0001c0001t0005g0013 a0001c0001t0005g0029 a0001c0001t0006g0057 a0001c0001t0007g0226 a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0009g0225 a0001c0001t0009g0288 a0001c0001t0010g0169 a0001c0001t0010g0186 a0001c0001t0011g0174 a0001c0001t0011g0184 a0001c0001t0011g0191 a0001c0001t0012g0183 a0001c0001t0015g0177 a0001c0001t0015g0187 a0001c0001t0036g0179 a0001c0001t0038g0190 a0002c0002t0019g0048 a0008c0011t0006g0028	30	303	0.0990	-52	c.-26 others(71): Show c.-26+15546_-26+15597delTTCTAGATGGAGCTCCTCCCGCAGTG TTCTAGATGGAGCTCCTCCCGCAGTG	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B4_chr15_49853238_50124233	49861025	AACTCTTT others(45): Show AACTCTTTCATTCCCCTGTAAAGCTAAGGAGAAAAAGACCTGAGGTTTGC TGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00558.hp2 others(37): Show HG00140.hp2 HG00323.hp2 HG00558.hp2 HG00609.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp2 HG01192.hp1 HG01255.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01978.hp1 HG02258.hp1 HG02293.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp2 HG03710.hp1 HG04199.hp1 HG04204.hp1 NA18951.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0015	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0006c0006 a0015c0018	a0001c0001t0003 a0001c0001t0022 a0001c0001t0030 others(8): Show a0001c0001t0003 a0001c0001t0022 a0001c0001t0030 a0002c0002t0003 a0003c0003t0003 a0003c0003t0004 a0003c0003t0012 a0005c0005t0021 a0006c0006t0004 a0006c0006t0006 a0015c0018t0004	a0001c0001t0003g0103 a0001c0001t0003g0106 a0001c0001t0003g0118 others(37): Show a0001c0001t0003g0103 a0001c0001t0003g0106 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0198 a0001c0001t0003g0204 a0001c0001t0003g0211 a0001c0001t0003g0218 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0245 a0001c0001t0022g0086 a0001c0001t0030g0149 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0129 a0002c0002t0003g0194 a0002c0002t0003g0205 a0002c0002t0003g0216 a0002c0002t0003g0230 a0003c0003t0003g0139 a0003c0003t0003g0140 a0003c0003t0003g0235 a0003c0003t0003g0247 a0003c0003t0004g0013 a0003c0003t0004g0016 a0003c0003t0012g0029 a0003c0003t0012g0043 a0005c0005t0021g0033 a0006c0006t0004g0005 a0006c0006t0004g0009 a0006c0006t0004g0042 a0006c0006t0006g0111 a0015c0018t0004g0072	40	252	0.1587	-52	c.329 others(69): Show c.3298-602_3298-551delACAGCAAACCTCAGGTCTTTTTCTCCTT AGCTTTACAGGGGAATGAAAGAGT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	27/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50085877	TTATATAT others(45): Show TTATATATTTATATATGATATATATCATATATATTTATATATGATATATA TCA	T T	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0193 a0002c0002t0001g0193	1	191	0.0052	-52	c.29- others(69): Show c.29-11744_29-11693delTGATATATATCATATATAAATATATATG ATATATATCATATATAAATATATA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79327596	CCCTCCGT others(45): Show CCCTCCGTGGTTAGCGTGCCCTCCCTGGTTAGTGTGCCCTCCCTGGTTAG CAT	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0164 a0002c0002t0001g0164	1	296	0.0034	-52	c.177 others(71): Show c.1774-1544_1774-1493delCCTCCGTGGTTAGCGTGCCCTCCCTG GTTAGTGTGCCCTCCCTGGTTAGCAT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79367197	GTGTGTAT others(45): Show GTGTGTATGCAGAGAAAGTGCCTCCTCAACCAGAGAGCACACATATCTTC ACC	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0191 a0002c0005t0001g0191	1	291	0.0034	-52	c.301 others(71): Show c.3013-5626_3013-5575delGTGTATGCAGAGAAAGTGCCTCCTCA ACCAGAGAGCACACATATCTTCACCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATPAF1_chr1_46627737_46673364	46651586	CAATGGTT others(45): Show CAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTA TTT	C C	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	410	0.0024	-52	c.588 others(67): Show c.588+943_588+994delAAATAGGAACACTTTTACACTGTTGGTGGG ACTGTAAACTAGTTCAACCATT	ATPAF1	ENSG00000123472.13	transcript	ENST00000574428.6	protein_coding	6/8			chr1	TogoVar
AVPI1_chr10_97672424_97692241	97678880	GGTGTGTG others(45): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01496.hp2 others(7): Show HG00140.hp1 HG00140.hp2 HG01496.hp2 HG02132.hp2 HG02572.hp1 HG02683.hp1 HG03209.hp2 HG03704.hp1 NA18962.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0004t0001 a0002c0002t0001 others(3): Show a0001c0001t0002 a0001c0004t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002	a0001c0001t0002g0052 a0001c0001t0002g0078 a0001c0004t0001g0021 others(6): Show a0001c0001t0002g0052 a0001c0001t0002g0078 a0001c0004t0001g0021 a0001c0004t0001g0118 a0002c0002t0001g0048 a0002c0002t0002g0001 a0003c0003t0001g0004 a0003c0003t0001g0117 a0003c0003t0002g0084	10	180	0.0556	-52	c.287 others(67): Show c.287+687_287+738delACACACACACACACACACACACACACACAC ACACACACACACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
B3GNTL1_chr17_82937149_83056770	83032243	CGGGTCAG others(45): Show CGGGTCAGACCAGGCCAGGCCTCCGACCCAGACCGAGCTCGGGAGCTGAA CAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp1 HG02818.hp2 others(1): Show HG02630.hp1 HG02809.hp1 HG02818.hp2 HG03225.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0011 a0001c0006t0018 a0001c0006t0001 a0001c0006t0011 a0001c0006t0018	a0001c0006t0001g0018 a0001c0006t0001g0019 a0001c0006t0011g0016 others(1): Show a0001c0006t0001g0018 a0001c0006t0001g0019 a0001c0006t0011g0016 a0001c0006t0018g0017	4	266	0.0150	-52	c.297 others(69): Show c.297+2740_297+2791delTTGTTCAGCTCCCGAGCTCGGTCTGGGT CGGAGGCCTGGCCTGGTCTGACCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	366062	ACGCCGGT others(45): Show ACGCCGGTTCCTCACACCAGGGGGTCGACAAAGAAGAGGGTCCCTGTGCT GGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	182	0.0055	-52	c.-37 others(63): Show c.-3741_-3690delCGCCGGTTCCTCACACCAGGGGGTCGACAAAGAA GAGGGTCCCTGTGCTGGT	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		3436		chr11	TogoVar
BATF2_chr11_64982945_65001971	64983525	TATTTTAT others(45): Show TATTTTATTTTATATTTTATTTTATATTTTATTTTATATTTTATTTTATT TTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02896.hp2 others(6): Show HG02109.hp1 HG02486.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp1 HG03139.hp1 HG03209.hp1 NA18906.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010	9	401	0.0224	-52	c.55 others(63): Show c.5552_*5603delTAAAATAAAATAAAATATAAAATAAAATATAAAA TAAAATATAAAATAAAAT	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		4419		chr11	TogoVar
BAZ2B_chr2_159313979_159621548	159325038	ATATATTA others(45): Show ATATATTATATATATATATATATTATATATATATATATATTATATATATA TAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00438.hp2 others(8): Show HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00738.hp1 HG01257.hp2 HG02698.hp1 HG02738.hp2 HG04204.hp2 NA19007.hp1 NA19055.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0008	a0002c0002 a0002c0007 a0002c0028 others(3): Show a0002c0002 a0002c0007 a0002c0028 a0003c0003 a0004c0004 a0008c0011	a0002c0002t0001 a0002c0002t0002 a0002c0007t0002 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0007t0002 a0002c0028t0002 a0003c0003t0001 a0004c0004t0001 a0008c0011t0001	a0002c0002t0001g0018 a0002c0002t0001g0063 a0002c0002t0001g0093 others(8): Show a0002c0002t0001g0018 a0002c0002t0001g0063 a0002c0002t0001g0093 a0002c0002t0002g0163 a0002c0002t0002g0187 a0002c0007t0002g0215 a0002c0028t0002g0216 a0003c0003t0001g0056 a0003c0003t0001g0059 a0004c0004t0001g0013 a0008c0011t0001g0052	11	201	0.0547	-52	c.621 others(68): Show c.6210-136_6210-85delATATATATATATAATATATATATATATAT AATATATATATATATATAATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	35/36			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60472999	AAGCATTT others(45): Show AAGCATTTATGTGTACATATGTGTGTTAGCGTGTGCATGCATATGTGTTT GTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG00738.hp2 others(9): Show HG00323.hp2 HG00735.hp1 HG00738.hp2 HG01192.hp2 HG01361.hp1 HG01952.hp1 HG02300.hp2 HG02698.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0009 a0001c0001 a0001c0007 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0020 a0001c0001t0029 a0001c0007t0002 a0001c0009t0001	a0001c0001t0001g0040 a0001c0001t0002g0127 a0001c0001t0003g0148 others(9): Show a0001c0001t0001g0040 a0001c0001t0002g0127 a0001c0001t0003g0148 a0001c0001t0004g0077 a0001c0001t0005g0221 a0001c0001t0009g0203 a0001c0001t0009g0204 a0001c0001t0012g0214 a0001c0001t0020g0042 a0001c0001t0029g0055 a0001c0007t0002g0095 a0001c0009t0001g0018	12	260	0.0462	-52	c.386 others(69): Show c.386-4218_386-4167delCACAAACACATATGCATGCACACGCTAA CACACATATGTACACATAAATGCT	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL6_chr3_187716381_187750468	187718049	GTGGCTAT others(45): Show GTGGCTATCTGTGAAGCGTAAGGGTCCTTCTAATGGCAGACTCCCCAGAA GCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	12	0.0833	-52	c.43 others(63): Show c.4357_*4408delTGCTTCTGGGGAGTCTGCCATTAGAAGGACCCTT ACGCTTCACAGATAGCCA	BCL6	ENSG00000113916.18	transcript	ENST00000406870.7	protein_coding		3331		chr3	TogoVar
BCOR_chrX_40046251_40102958	40046524	ATATATAT others(45): Show ATATATATAAATATATATATATATATGTATATATATATATATATATATAT ATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG03041.hp1 HG01891.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0133 a0001c0001t0003g0001 a0001c0001t0003g0133	2	252	0.0079	-52	c.55 others(63): Show c.5533_*5584delCATATATATATATATATATATATATACATATATA TATATATATTTATATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4726		chrX	TogoVar
BDH1_chr3_197504783_197560968	197517475	TTTCCTGC others(45): Show TTTCCTGCTCTATGGTCTCAATCCCCCTTCAGGCCGACCCCCCCATCAGT CAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00738.hp1 others(5): Show HG00140.hp2 HG00280.hp2 HG00738.hp1 HG02300.hp2 HG03490.hp1 HG03492.hp1 HG03669.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0028 a0001c0001t0004g0053 others(3): Show a0001c0001t0004g0026 a0001c0001t0004g0028 a0001c0001t0004g0053 a0001c0001t0004g0169 a0001c0001t0004g0244 a0001c0001t0004g0254	8	290	0.0276	-52	c.410 others(69): Show c.410-3111_410-3060delGTGACTGATGGGGGGGTCGGCCTGAAGG GGGATTGAGACCATAGAGCAGGAA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BEX1_chrX_103057651_103069171	103068146	TAAAATAA others(45): Show TAAAATAAAAGCGAGAAATTATTAAGTGTAGTGAGGAAGGCATGTCGAAA GCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	337	0.0030	-52	c.-41 others(63): Show c.-4198_-4147delGGCTTTCGACATGCCTTCCTCACTACACTTAATA ATTTCTCGCTTTTATTTT	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		3976		chrX	TogoVar
BGN_chrX_153489980_153514546	153513808	TGAGTGTG others(45): Show TGAGTGTGAGCGTGTGTGTGTGTTTCTGTGTGTGTGTGTCTGTGCATGGA TGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02486.hp1 others(2): Show HG02109.hp1 HG02257.hp1 HG02486.hp1 HG02809.hp2 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0013 others(1): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0013 a0001c0003t0031	a0001c0003t0001g0170 a0001c0003t0003g0084 a0001c0003t0013g0046 others(2): Show a0001c0003t0001g0170 a0001c0003t0003g0084 a0001c0003t0013g0046 a0001c0003t0013g0175 a0001c0003t0031g0060	5	319	0.0157	-52	c.53 others(63): Show c.5364_*5415delGAGTGTGAGCGTGTGTGTGTGTTTCTGTGTGTGT GTGTCTGTGCATGGATGA	BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding		4263		chrX	TogoVar
BICD1_chr12_32101847_32388633	32253800	AATCCCAC others(45): Show AATCCCACCTGCCATAATCACTGCCGTATCCCACCTGTCATAATCACTGC CGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02145.hp2 others(14): Show HG01884.hp1 HG02109.hp1 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG06807.hp2 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(8): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018 a0001c0001t0032 a0001c0001t0038 a0001c0001t0055 a0001c0002t0007 a0001c0005t0009 a0001c0007t0050	a0001c0001t0004g0019 a0001c0001t0004g0151 a0001c0001t0006g0034 others(14): Show a0001c0001t0004g0019 a0001c0001t0004g0151 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0158 a0001c0001t0009g0185 a0001c0001t0010g0156 a0001c0001t0018g0210 a0001c0001t0018g0224 a0001c0001t0032g0033 a0001c0001t0038g0096 a0001c0001t0055g0039 a0001c0002t0007g0028 a0001c0002t0007g0164 a0001c0005t0009g0271 a0001c0007t0050g0186	17	288	0.0590	-52	c.426 others(71): Show c.426+37392_426+37443delGTATCCCACCTGCCATAATCACTGCC GTATCCCACCTGTCATAATCACTGCC	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32253851	GTATCCCA others(45): Show GTATCCCACCTGCCATAATCACTGCCGTATCCCACCTGTCATAATCACTG CCA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01106.hp2 HG01175.hp1 others(33): Show HG00558.hp1 HG01106.hp2 HG01175.hp1 HG01175.hp2 HG01346.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02155.hp1 HG02280.hp2 HG02300.hp1 HG02602.hp1 HG02615.hp1 HG02738.hp2 HG02976.hp2 HG03831.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 NA18906.hp1 NA18950.hp1 NA18951.hp2 NA18960.hp1 NA18966.hp1 NA18977.hp2 NA18982.hp2 NA19002.hp1 NA19057.hp1 NA19080.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0036 a0001c0001t0058 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0003t0002	a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0199 others(33): Show a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0199 a0001c0001t0001g0289 a0001c0001t0003g0148 a0001c0001t0003g0189 a0001c0001t0003g0202 a0001c0001t0003g0220 a0001c0001t0003g0239 a0001c0001t0004g0032 a0001c0001t0004g0113 a0001c0001t0004g0139 a0001c0001t0006g0105 a0001c0001t0008g0119 a0001c0001t0008g0122 a0001c0001t0008g0144 a0001c0001t0009g0081 a0001c0001t0009g0084 a0001c0001t0010g0125 a0001c0001t0011g0044 a0001c0001t0011g0235 a0001c0001t0012g0229 a0001c0001t0012g0258 a0001c0001t0015g0020 a0001c0001t0017g0091 a0001c0001t0018g0261 a0001c0001t0036g0092 a0001c0001t0058g0213 a0001c0002t0002g0056 a0001c0002t0005g0104 a0001c0002t0005g0112 a0001c0002t0005g0116 a0001c0002t0005g0117 a0001c0002t0005g0127 a0001c0002t0007g0023 a0001c0003t0002g0240	36	288	0.1250	-52	c.426 others(71): Show c.426+37417_426+37468delCGTATCCCACCTGTCATAATCACTGC CATATCCCACCTGCCATAATCACTGC	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346564	ATATATAT others(45): Show ATATATATATATATATATACGTGTATATATATATATATATATATATATAC GTG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01884.hp2 HG01981.hp2 others(3): Show HG01261.hp1 HG01884.hp2 HG01981.hp2 HG02922.hp2 NA18981.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0012 a0001c0002t0002 a0001c0001t0010 a0001c0001t0012 a0001c0002t0002	a0001c0001t0010g0103 a0001c0001t0010g0125 a0001c0001t0010g0160 others(3): Show a0001c0001t0010g0103 a0001c0001t0010g0125 a0001c0001t0010g0160 a0001c0001t0012g0229 a0001c0001t0012g0233 a0001c0002t0002g0074	6	285	0.0211	-52	c.276 others(71): Show c.2764+7628_2764+7679delTATATACGTGTATATATATATATATA TACGTGTATATATATATATATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BNC2_chr9_16404503_16875670	16498244	TATATATA others(45): Show TATATATATATTCCATCATATATATATTCCATCATATATATATATATTCC ATC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG00621.hp2 others(21): Show HG00558.hp1 HG00621.hp1 HG00621.hp2 HG01106.hp2 HG01123.hp2 HG01433.hp1 HG01516.hp2 HG02056.hp1 HG02145.hp2 HG02602.hp2 HG02738.hp1 HG03669.hp2 HG04184.hp2 NA18943.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18971.hp2 NA18986.hp1 NA18999.hp2 NA19003.hp1 NA19005.hp2 NA19056.hp1 NA20300.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0012	a0001c0001 a0002c0003 a0006c0012 others(1): Show a0001c0001 a0002c0003 a0006c0012 a0012c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0030 a0001c0001t0035 a0001c0001t0062 a0001c0001t0072 a0001c0001t0074 a0001c0001t0079 a0001c0001t0085 a0001c0001t0090 a0001c0001t0110 a0002c0003t0001 a0002c0003t0070 a0006c0012t0023 a0012c0010t0001	a0001c0001t0001g0053 a0001c0001t0001g0125 a0001c0001t0001g0143 others(21): Show a0001c0001t0001g0053 a0001c0001t0001g0125 a0001c0001t0001g0143 a0001c0001t0002g0147 a0001c0001t0004g0006 a0001c0001t0005g0010 a0001c0001t0010g0148 a0001c0001t0011g0109 a0001c0001t0015g0145 a0001c0001t0018g0095 a0001c0001t0030g0108 a0001c0001t0035g0167 a0001c0001t0062g0028 a0001c0001t0072g0132 a0001c0001t0074g0031 a0001c0001t0079g0069 a0001c0001t0085g0089 a0001c0001t0090g0164 a0001c0001t0110g0008 a0002c0003t0001g0005 a0002c0003t0001g0110 a0002c0003t0070g0165 a0006c0012t0023g0091 a0012c0010t0001g0124	24	174	0.1379	-52	c.669 others(71): Show c.669+54234_669+54285delGATGGAATATATATATATATGATGGA ATATATATATGATGGAATATATATAT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BOD1L2_chr18_57142087_57155410	57150188	GCCTGAAT others(45): Show GCCTGAATGCTTCCCGTTCCCACCATGAGTTTGGCAAATGGAAAATGCTA ACC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0000 a0002c0002t0029g0000	1	466	0.0021	-52	c.23 others(63): Show c.2358_*2409delCCTGAATGCTTCCCGTTCCCACCATGAGTTTGGC AAATGGAAAATGCTAACC	BOD1L2	ENSG00000228075.5	transcript	ENST00000585477.2	protein_coding	1/1	2358		chr18	TogoVar
BRF1_chr14_105204286_105306001	105214496	CCTGCATG others(45): Show CCTGCATGGCTCAGCTGCCCACACCCCTGCGTGGCTCAGCTGCCCACACC CCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG03540.hp2 HG02055.hp1 HG02257.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0022 a0001c0001t0002g0067 a0001c0001t0002g0068	3	70	0.0429	-52	c.177 others(71): Show c.1773-2384_1773-2333delAGGGGTGTGGGCAGCTGAGCCACGCA GGGGTGTGGGCAGCTGAGCCATGCAG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	15/17			chr14	TogoVar
BRWD1_chr21_39180482_39318632	39217041	ATATATAT others(45): Show ATATATATATTTATATATATATATATATATATATATATATATATTTTTTT TTT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01516.hp2 HG03225.hp1 HG01515.hp1 HG01516.hp2 HG03225.hp1	a0003 a0006 a0003 a0006	a0003c0004 a0006c0009 a0003c0004 a0006c0009	a0003c0004t0005 a0003c0004t0010 a0006c0009t0012 a0003c0004t0005 a0003c0004t0010 a0006c0009t0012	a0003c0004t0005g0131 a0003c0004t0010g0093 a0006c0009t0012g0086 a0003c0004t0005g0131 a0003c0004t0010g0093 a0006c0009t0012g0086	3	306	0.0098	-52	c.365 others(71): Show c.3659+1059_3659+1110delAAAAAAAAAATATATATATATATATA TATATATATATATATAAATATATATA	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39217043	ATATATAT others(45): Show ATATATATTTATATATATATATATATATATATATATATATATTTTTTTTT TTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0012 a0006c0009t0012	a0006c0009t0012g0083 a0006c0009t0012g0083	1	311	0.0032	-52	c.365 others(71): Show c.3659+1057_3659+1108delAAAAAAAAAAAATATATATATATATA TATATATATATATATATAAATATATA	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
BSN_chr3_49549477_49676549	49562440	TAAATTAG others(45): Show TAAATTAGAGTTTGCTCCTGCCTTCTCTTTGTCTCACAGAGGTAAGAGAA ATG	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0022 a0022	a0022c0031 a0022c0031	a0022c0031t0002 a0022c0031t0002	a0022c0031t0002g0090 a0022c0031t0002g0090	1	184	0.0054	-52	c.224 others(69): Show c.224+7616_224+7667delAATTAGAGTTTGCTCCTGCCTTCTCTTT GTCTCACAGAGGTAAGAGAAATGA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BTBD19_chr1_44803523_44820585	44816543	TATATACA others(45): Show TATATACACATAGATGTGTGTATATATTATATATACACATAGATGTGTGT GTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01515.hp1 HG01517.hp1 others(1): Show HG00140.hp2 HG01515.hp1 HG01517.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0017 a0001c0001t0002 a0001c0001t0007 a0001c0001t0017	a0001c0001t0002g0004 a0001c0001t0007g0049 a0001c0001t0017g0012 others(1): Show a0001c0001t0002g0004 a0001c0001t0007g0049 a0001c0001t0017g0012 a0001c0001t0017g0059	4	434	0.0092	-52	c.27 others(63): Show c.2772_*2823delATATACACATAGATGTGTGTATATATTATATATA CACATAGATGTGTGTGTA	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		959		chr1	TogoVar
BYSL_chr6_41916499_41938046	41930970	CGTGATGA others(45): Show CGTGATGAATTTCTAGGGGAGAGGCTTTTATAGCTACTGGGATACAACCC TCT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18943.hp2 NA19085.hp1 HG02056.hp1 NA18943.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0071 a0002c0002t0001g0033 a0002c0002t0001g0071	3	462	0.0065	-52	c.704 others(67): Show c.704+236_704+287delTACTGGGATACAACCCTCTGTGATGAATTT CTAGGGGAGAGGCTTTTATAGC	BYSL	ENSG00000112578.10	transcript	ENST00000230340.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar

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