Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
B3GNTL1_chr17_82937149_83056770	83002858	GTCCGCGT others(136): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCGCGTGTGGGATTCCTGAG CCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACT CTCCGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02683.hp2 HG03041.hp2 others(1): Show HG01074.hp1 HG02683.hp2 HG03041.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0025 a0001c0001 a0001c0006 a0003c0025	a0001c0001t0001 a0001c0001t0015 a0001c0006t0002 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0006t0002 a0003c0025t0011	a0001c0001t0001g0179 a0001c0001t0015g0249 a0001c0006t0002g0007 others(1): Show a0001c0001t0001g0179 a0001c0001t0015g0249 a0001c0006t0002g0007 a0003c0025t0011g0054	4	266	0.0150	-143	c.459 others(17): Show c.459+2114_459+2256del		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
BRDT_chr1_91944401_92019421	91962179	AAAAAAAA others(136): Show AAAAAAAAAAAAAATCCAAGGCTAAGGCATATATAGTGAAACTTTTACTA TTTGTATATAAAAAATTTGTATTTGTTTAAAAATTGATTCCTTTGCCATT TGGCTTTTTTTTTTTTTCATCCTGTCTTAATCATGATGTGCTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG00741.hp2 others(1): Show HG00639.hp2 HG00642.hp1 HG00741.hp2 HG02300.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0297 a0004c0004t0002g0298 a0004c0004t0002g0299 others(1): Show a0004c0004t0002g0297 a0004c0004t0002g0298 a0004c0004t0002g0299 a0004c0004t0002g0302	4	318	0.0126	-143	c.-37 others(15): Show c.-37-534_-37-392del		BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr1	TogoVar
BRSK2_chr11_1384934_1467689	1429953	TCAGCAGT others(136): Show TCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCT CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03942.hp1 HG04228.hp2 others(2): Show HG00408.hp2 HG03942.hp1 HG04228.hp2 NA18612.hp2 NA18982.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0010 a0001c0001 a0002c0002 a0005c0010	a0001c0001t0009 a0001c0001t0018 a0001c0001t0067 others(2): Show a0001c0001t0009 a0001c0001t0018 a0001c0001t0067 a0002c0002t0008 a0005c0010t0002	a0001c0001t0009g0153 a0001c0001t0018g0334 a0001c0001t0067g0252 others(2): Show a0001c0001t0009g0153 a0001c0001t0018g0334 a0001c0001t0067g0252 a0002c0002t0008g0151 a0005c0010t0002g0085	5	360	0.0139	-143	c.92- others(15): Show c.92-6064_92-5922del		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432221	TCAGCAGT others(136): Show TCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCC CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02040.hp2 NA18980.hp1 others(1): Show HG00544.hp2 HG02040.hp2 NA18980.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0020 a0002c0002t0056 a0002c0002t0002 a0002c0002t0020 a0002c0002t0056	a0002c0002t0002g0164 a0002c0002t0002g0166 a0002c0002t0020g0156 others(1): Show a0002c0002t0002g0164 a0002c0002t0002g0166 a0002c0002t0020g0156 a0002c0002t0056g0337	4	360	0.0111	-143	c.92- others(15): Show c.92-3796_92-3654del		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BTBD19_chr1_44803523_44820585	44816539	ATTATATA others(136): Show ATTATATATACACATAGATGTGTGTATATATTATATATACACATAGATGT GTGTGTATATATATACACATAGATGTGTGTGTATATTATATATACACATA GATGTGTGTGTATATTATATATACACATAGATGTGTGTGTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0004 a0001c0001t0112g0004	1	436	0.0023	-143	c.27 others(11): Show c.2768_*2910del		BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding					955		chr1	TogoVar
C8G_chr9_136940243_136951975	136951387	GGGACCAC others(136): Show GGGACCACAGGTGTGCACCACCACCCCCAGCTAACTTTTAAATTTTTTTG TAGAGATGGAGTCTCGCTATGTTGTCCAGGGTGATGTCAAACTCCTGGGC TTGAGAGATCCTCCCACCTTGGCCCCCCAAAGTGCTGGGATTAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	-143	c.46 others(11): Show c.4607_*4749del		C8G	ENSG00000176919.13	transcript	ENST00000371634.7	protein_coding					4413		chr9	TogoVar
CABLES1_chr18_23130485_23265470	23156103	GGGGGCTG others(136): Show GGGGGCTGGAGGGTGGTGTGAATGGCATGAGGTCATCTGGAACAGAGGGG GGGCTCCATGGAGGGTCCTCCAGCCCCCAAGACCAGCCTTGGTATTTCCT ACAGGGGCTGGGCCATAGGCTCTCACATGGATAAGAAGGAACCT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0081 a0001c0011t0015g0081	1	278	0.0036	-143	c.845 others(19): Show c.845+19497_845+19639del		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9						chr18	TogoVar
CAMK2B_chr7_44212154_44330594	44227455	AAGTGTGG others(136): Show AAGTGTGGGGGACAGAAGGGGGTATGGGGGGCAGGGGGTGGAGGACAGAG GAGGGTGTGGGGGACAGAGGGGGATATGGGGGACAGAGGGAGTGTAGGGG ACAGAGGAGGGTCTGGGGGGCAGAGGGAGAGTGTGGGGGACAGG	A A	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0227 a0002c0005t0004g0227	1	242	0.0041	-143	c.146 others(17): Show c.1469-954_1469-812del		CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23						chr7	TogoVar
CBLC_chr19_44772890_44805652	44801468	CTGCAGCC others(136): Show CTGCAGCCCCTCCTCCCTCAGACCCAGGAGTCCATACTCCAGCCCCTCCT CCCTCAGACCCAGGAGTCCATACTGCAGCCCCTTCTCCCTCAGACCCAGG AGTCCATACTGCAGCCCCTCCTTCCTCAGACCCAGGAGTCCATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02922.hp2 HG02976.hp2 others(6): Show HG02145.hp1 HG02922.hp2 HG02976.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp2	a0000 a0001 a0003 a0000 a0001 a0003	a0000c0002 a0000c0007 a0001c0006 others(1): Show a0000c0002 a0000c0007 a0001c0006 a0003c0005	a0000c0002t0001 a0000c0007t0001 a0001c0006t0001 others(1): Show a0000c0002t0001 a0000c0007t0001 a0001c0006t0001 a0003c0005t0001	a0000c0002t0001g0032 a0000c0002t0001g0049 a0000c0002t0001g0063 others(5): Show a0000c0002t0001g0032 a0000c0002t0001g0049 a0000c0002t0001g0063 a0000c0007t0001g0014 a0000c0007t0001g0042 a0000c0007t0001g0046 a0001c0006t0001g0048 a0003c0005t0001g0066	9	344	0.0262	-143	c.92 others(10): Show c.926_*1068del		CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding					817		chr19	TogoVar
CDH4_chr20_61247261_61945617	61565214	TCGGTGGT others(136): Show TCGGTGGTAGGTGGTGGTGGTGGTGGTGGCGGTGCTCTTGGTGATGGTGG TGGTGGTCCTCTTGGTGATGGGGTGATGGTGGTGGCGGTGCTCTTGGTGG TGGCGGTGCTCTTGGTGATGGTGGTAGTGGTCCTCTTGGTGATG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0001 a0002c0004t0002g0001	1	106	0.0094	-143	c.170 others(21): Show c.170-178348_170-178206del		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15						chr20	TogoVar
CDK12_chr17_39456486_39539544	39499067	CTTTCTTT others(136): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18939.hp2 HG02523.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0060 a0001c0001t0003g0055 a0001c0001t0003g0060	2	260	0.0077	-143	c.242 others(19): Show c.2420-2179_2420-2037del		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK12_chr17_39456486_39539544	39499083	CTTTCTTT others(136): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCCTTTTTTTTTTTTTTTTGA	C C	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0023	1	260	0.0039	-143	c.242 others(19): Show c.2420-2166_2420-2024del		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13						chr17	TogoVar
CDKL5_chrX_18420608_18645196	18474306	AATTGTAA others(136): Show AATTGTAAGGGTATGGTATGTGTTGATTATTTCCCCGAAAACCATCCTAT TTTCATCTCTGTTGCCTCTACCTTTATTAAGGTACATAAGTCCCCAAGTT TTATAAGTCCCCAAGTTTCTACCTCCTCGGAACCATTTTCCCTC	A A	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0138 a0001c0001t0041g0138	1	192	0.0052	-143	c.-16 others(21): Show c.-162-32626_-162-32484del		CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	1/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A2_chr13_110302284_110518209	110408868	TATACACA others(136): Show TATACACATGGACACGCGCACACGTTTACACACATGCAGATATACACATG CACACACACGTACACACGCACACATATATACACGGACACATACACATAAC GCACATATACACACACATGCACACACGCACACATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(302): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027	a0001c0001 a0001c0002 a0001c0003 others(99): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0022 a0001c0024 a0001c0025 a0001c0028 a0001c0029 a0001c0037 a0001c0045 a0001c0046 a0001c0047 a0001c0051 a0001c0052 a0001c0074 a0001c0075 a0001c0077 a0001c0079 a0001c0083 a0001c0101 a0001c0102 a0001c0106 a0001c0114 a0001c0119 a0002c0006 a0002c0013 a0002c0017 a0002c0019 a0002c0035 a0002c0038 a0002c0041 a0002c0050 a0002c0054 a0002c0055 a0002c0056 a0002c0062 a0002c0063 a0002c0086 a0002c0087 a0002c0090 a0002c0091 a0002c0092 a0002c0107 a0002c0113 a0002c0120 a0002c0121 a0002c0122 a0003c0007 a0003c0010 a0003c0018 a0003c0026 a0003c0039 a0003c0040 a0003c0067 a0003c0069 a0003c0070 a0003c0094 a0003c0095 a0003c0112 a0003c0116 a0003c0117 a0003c0118 a0004c0009 a0004c0012 a0004c0030 a0004c0058 a0004c0084 a0004c0085 a0004c0089 a0005c0020 a0005c0021 a0005c0043 a0006c0027 a0006c0033 a0007c0031 a0007c0059 a0007c0060 a0008c0023 a0010c0036 a0011c0032 a0012c0034 a0013c0042 a0014c0108 a0015c0109 a0016c0048 a0017c0061 a0018c0049 a0020c0096 a0021c0053 a0022c0078 a0023c0099 a0024c0076 a0025c0103 a0026c0104 a0027c0080	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(186): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0023 a0001c0001t0046 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0023 a0001c0002t0029 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0017 a0001c0003t0049 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0006 a0001c0004t0040 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0009 a0001c0008t0001 a0001c0008t0002 a0001c0008t0004 a0001c0008t0007 a0001c0008t0011 a0001c0011t0003 a0001c0011t0004 a0001c0011t0013 a0001c0011t0022 a0001c0014t0001 a0001c0014t0004 a0001c0014t0005 a0001c0014t0006 a0001c0014t0009 a0001c0014t0026 a0001c0015t0001 a0001c0015t0002 a0001c0015t0003 a0001c0016t0001 a0001c0016t0003 a0001c0016t0007 a0001c0022t0018 a0001c0022t0019 a0001c0024t0002 a0001c0024t0003 a0001c0025t0001 a0001c0025t0002 a0001c0028t0001 a0001c0028t0002 a0001c0029t0001 a0001c0029t0002 a0001c0037t0005 a0001c0037t0020 a0001c0045t0003 a0001c0046t0034 a0001c0047t0002 a0001c0051t0004 a0001c0052t0003 a0001c0074t0014 a0001c0075t0001 a0001c0077t0005 a0001c0079t0005 a0001c0083t0001 a0001c0101t0019 a0001c0102t0011 a0001c0106t0001 a0001c0114t0010 a0001c0119t0032 a0002c0006t0001 a0002c0006t0002 a0002c0006t0003 a0002c0006t0004 a0002c0006t0005 a0002c0006t0006 a0002c0013t0001 a0002c0013t0002 a0002c0013t0005 a0002c0013t0006 a0002c0013t0043 a0002c0017t0002 a0002c0017t0003 a0002c0019t0002 a0002c0019t0006 a0002c0019t0037 a0002c0035t0003 a0002c0035t0012 a0002c0038t0002 a0002c0041t0002 a0002c0041t0018 a0002c0050t0002 a0002c0054t0045 a0002c0055t0016 a0002c0056t0004 a0002c0062t0047 a0002c0063t0007 a0002c0086t0002 a0002c0087t0001 a0002c0090t0008 a0002c0091t0001 a0002c0092t0001 a0002c0107t0033 a0002c0113t0008 a0002c0120t0007 a0002c0121t0016 a0002c0122t0003 a0003c0007t0001 a0003c0007t0002 a0003c0007t0005 a0003c0007t0008 a0003c0007t0035 a0003c0010t0004 a0003c0010t0005 a0003c0018t0004 a0003c0018t0005 a0003c0018t0006 a0003c0026t0001 a0003c0039t0004 a0003c0039t0008 a0003c0040t0002 a0003c0067t0050 a0003c0069t0009 a0003c0070t0005 a0003c0094t0025 a0003c0095t0003 a0003c0112t0006 a0003c0116t0022 a0003c0117t0006 a0003c0118t0036 a0004c0009t0001 a0004c0009t0002 a0004c0009t0003 a0004c0012t0001 a0004c0012t0002 a0004c0012t0003 a0004c0012t0004 a0004c0012t0008 a0004c0030t0001 a0004c0058t0001 a0004c0084t0005 a0004c0085t0001 a0004c0089t0005 a0005c0020t0002 a0005c0020t0006 a0005c0021t0001 a0005c0021t0006 a0005c0021t0028 a0005c0021t0041 a0005c0043t0001 a0005c0043t0002 a0006c0027t0007 a0006c0027t0039 a0006c0033t0012 a0007c0031t0002 a0007c0031t0009 a0007c0059t0024 a0007c0060t0015 a0008c0023t0001 a0008c0023t0002 a0010c0036t0021 a0011c0032t0002 a0012c0034t0001 a0013c0042t0002 a0014c0108t0002 a0015c0109t0002 a0016c0048t0005 a0017c0061t0011 a0018c0049t0031 a0020c0096t0010 a0021c0053t0007 a0022c0078t0003 a0023c0099t0006 a0024c0076t0003 a0025c0103t0004 a0026c0104t0006 a0027c0080t0003	a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0189 others(301): Show a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0231 a0001c0001t0001g0363 a0001c0001t0002g0306 a0001c0001t0002g0338 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0098 a0001c0001t0003g0124 a0001c0001t0003g0135 a0001c0001t0004g0280 a0001c0001t0004g0290 a0001c0001t0004g0348 a0001c0001t0004g0350 a0001c0001t0005g0107 a0001c0001t0005g0115 a0001c0001t0005g0154 a0001c0001t0005g0192 a0001c0001t0006g0047 a0001c0001t0006g0074 a0001c0001t0006g0075 a0001c0001t0006g0083 a0001c0001t0010g0033 a0001c0001t0010g0035 a0001c0001t0023g0329 a0001c0001t0046g0283 a0001c0002t0001g0101 a0001c0002t0001g0152 a0001c0002t0001g0180 a0001c0002t0001g0193 a0001c0002t0001g0243 a0001c0002t0002g0286 a0001c0002t0002g0308 a0001c0002t0002g0318 a0001c0002t0003g0051 a0001c0002t0003g0067 a0001c0002t0003g0079 a0001c0002t0003g0127 a0001c0002t0003g0136 a0001c0002t0004g0292 a0001c0002t0005g0100 a0001c0002t0005g0158 a0001c0002t0005g0215 a0001c0002t0005g0216 a0001c0002t0006g0046 a0001c0002t0008g0012 a0001c0002t0023g0305 a0001c0002t0029g0204 a0001c0003t0001g0165 a0001c0003t0001g0232 a0001c0003t0001g0248 a0001c0003t0002g0267 a0001c0003t0002g0296 a0001c0003t0002g0333 a0001c0003t0002g0340 a0001c0003t0002g0341 a0001c0003t0002g0353 a0001c0003t0003g0049 a0001c0003t0003g0056 a0001c0003t0003g0061 a0001c0003t0003g0065 a0001c0003t0003g0088 a0001c0003t0003g0089 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0017g0178 a0001c0003t0017g0245 a0001c0003t0049g0274 a0001c0004t0001g0099 a0001c0004t0001g0150 a0001c0004t0002g0288 a0001c0004t0002g0359 a0001c0004t0003g0048 a0001c0004t0003g0059 a0001c0004t0003g0140 a0001c0004t0004g0278 a0001c0004t0004g0287 a0001c0004t0004g0291 a0001c0004t0004g0331 a0001c0004t0004g0354 a0001c0004t0004g0355 a0001c0004t0004g0356 a0001c0004t0004g0357 a0001c0004t0005g0104 a0001c0004t0005g0229 a0001c0004t0006g0053 a0001c0004t0040g0050 a0001c0005t0001g0102 a0001c0005t0001g0182 a0001c0005t0001g0184 a0001c0005t0001g0249 a0001c0005t0002g0297 a0001c0005t0002g0332 a0001c0005t0002g0337 a0001c0005t0002g0342 a0001c0005t0003g0052 a0001c0005t0003g0071 a0001c0005t0003g0103 a0001c0005t0009g0013 a0001c0008t0001g0108 a0001c0008t0001g0149 a0001c0008t0001g0202 a0001c0008t0001g0222 a0001c0008t0002g0344 a0001c0008t0004g0282 a0001c0008t0004g0285 a0001c0008t0007g0214 a0001c0008t0011g0011 a0001c0011t0003g0125 a0001c0011t0004g0207 a0001c0011t0004g0311 a0001c0011t0013g0220 a0001c0011t0013g0255 a0001c0011t0022g0358 a0001c0014t0001g0146 a0001c0014t0001g0194 a0001c0014t0004g0324 a0001c0014t0005g0240 a0001c0014t0006g0095 a0001c0014t0009g0004 a0001c0014t0026g0156 a0001c0015t0001g0198 a0001c0015t0001g0227 a0001c0015t0002g0269 a0001c0015t0002g0284 a0001c0015t0002g0343 a0001c0015t0003g0086 a0001c0015t0003g0093 a0001c0016t0001g0109 a0001c0016t0003g0094 a0001c0016t0007g0159 a0001c0016t0007g0219 a0001c0022t0018g0173 a0001c0022t0019g0130 a0001c0024t0002g0345 a0001c0024t0003g0060 a0001c0024t0003g0087 a0001c0025t0001g0201 a0001c0025t0002g0339 a0001c0025t0002g0346 a0001c0028t0001g0167 a0001c0028t0002g0304 a0001c0029t0001g0161 a0001c0029t0002g0330 a0001c0037t0005g0185 a0001c0037t0020g0069 a0001c0045t0003g0021 a0001c0046t0034g0007 a0001c0047t0002g0310 a0001c0051t0004g0315 a0001c0052t0003g0141 a0001c0074t0014g0043 a0001c0075t0001g0106 a0001c0077t0005g0236 a0001c0079t0005g0361 a0001c0083t0001g0191 a0001c0101t0019g0129 a0001c0102t0011g0172 a0001c0106t0001g0217 a0001c0114t0010g0030 a0001c0119t0032g0005 a0002c0006t0001g0114 a0002c0006t0001g0228 a0002c0006t0001g0258 a0002c0006t0001g0294 a0002c0006t0002g0024 a0002c0006t0003g0084 a0002c0006t0004g0272 a0002c0006t0005g0110 a0002c0006t0006g0066 a0002c0006t0006g0070 a0002c0006t0006g0090 a0002c0006t0006g0143 a0002c0006t0006g0144 a0002c0013t0001g0044 a0002c0013t0002g0265 a0002c0013t0005g0036 a0002c0013t0005g0188 a0002c0013t0006g0118 a0002c0013t0043g0016 a0002c0017t0002g0295 a0002c0017t0002g0300 a0002c0017t0002g0316 a0002c0017t0003g0126 a0002c0019t0002g0303 a0002c0019t0006g0131 a0002c0019t0037g0026 a0002c0035t0003g0142 a0002c0035t0012g0328 a0002c0038t0002g0360 a0002c0041t0002g0369 a0002c0041t0018g0003 a0002c0050t0002g0317 a0002c0054t0045g0233 a0002c0055t0016g0250 a0002c0056t0004g0266 a0002c0062t0047g0298 a0002c0063t0007g0147 a0002c0086t0002g0279 a0002c0087t0001g0256 a0002c0090t0008g0041 a0002c0091t0001g0210 a0002c0092t0001g0230 a0002c0107t0033g0174 a0002c0113t0008g0040 a0002c0120t0007g0029 a0002c0121t0016g0238 a0002c0122t0003g0020 a0003c0007t0001g0031 a0003c0007t0002g0263 a0003c0007t0005g0221 a0003c0007t0005g0259 a0003c0007t0008g0038 a0003c0007t0035g0025 a0003c0010t0004g0002 a0003c0010t0004g0351 a0003c0010t0005g0218 a0003c0018t0004g0309 a0003c0018t0005g0116 a0003c0018t0005g0117 a0003c0018t0006g0145 a0003c0026t0001g0032 a0003c0026t0001g0034 a0003c0026t0001g0112 a0003c0039t0004g0251 a0003c0039t0008g0027 a0003c0040t0002g0261 a0003c0067t0050g0151 a0003c0069t0009g0008 a0003c0070t0005g0226 a0003c0094t0025g0175 a0003c0095t0003g0082 a0003c0112t0006g0068 a0003c0116t0022g0367 a0003c0117t0006g0023 a0003c0118t0036g0139 a0004c0009t0001g0111 a0004c0009t0001g0244 a0004c0009t0002g0289 a0004c0009t0002g0325 a0004c0009t0003g0055 a0004c0009t0003g0062 a0004c0009t0003g0078 a0004c0009t0003g0122 a0004c0009t0003g0128 a0004c0012t0001g0162 a0004c0012t0001g0199 a0004c0012t0002g0277 a0004c0012t0003g0077 a0004c0012t0004g0299 a0004c0012t0004g0307 a0004c0012t0008g0009 a0004c0030t0001g0113 a0004c0030t0001g0179 a0004c0058t0001g0183 a0004c0084t0005g0253 a0004c0085t0001g0200 a0004c0089t0005g0187 a0005c0020t0002g0270 a0005c0020t0002g0271 a0005c0020t0006g0073 a0005c0020t0006g0097 a0005c0021t0001g0211 a0005c0021t0006g0054 a0005c0021t0028g0239 a0005c0021t0041g0072 a0005c0043t0001g0137 a0005c0043t0002g0273 a0006c0027t0007g0177 a0006c0027t0039g0096 a0006c0033t0012g0335 a0006c0033t0012g0336 a0007c0031t0002g0364 a0007c0031t0009g0042 a0007c0059t0024g0252 a0007c0060t0015g0264 a0008c0023t0001g0262 a0008c0023t0002g0312 a0010c0036t0021g0319 a0010c0036t0021g0320 a0011c0032t0002g0302 a0012c0034t0001g0196 a0012c0034t0001g0197 a0013c0042t0002g0313 a0013c0042t0002g0314 a0014c0108t0002g0323 a0015c0109t0002g0321 a0016c0048t0005g0206 a0017c0061t0011g0039 a0018c0049t0031g0045 a0020c0096t0010g0208 a0021c0053t0007g0241 a0022c0078t0003g0138 a0023c0099t0006g0058 a0024c0076t0003g0076 a0025c0103t0004g0301 a0026c0104t0006g0085 a0027c0080t0003g0057	305	372	0.8199	-143	c.181 others(19): Show c.181-15799_181-15657del		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
CPNE7_chr16_89570758_89602246	89571044	CGGGGCAC others(136): Show CGGGGCACGGGAGGAGGTGAGCGGGGCACGGGAGGAGGTGAGCGGGGACG GGAGGAGGTGAGCGGGGACGGGAGGAGGTGAGCGGGCACGGGAGGAGGTG AGGGGCACGGGAGGAGGTGAGCGGGGCACGGGAGGAGGTGAGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0001 a0002c0004t0002g0001	1	348	0.0029	-143	c.-48 others(11): Show c.-4853_-4711del		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding					4713		chr16	TogoVar
DDX51_chr12_132131594_132149319	132134931	CCCCGAGT others(136): Show CCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCC ACGGTGCCCACTCCTCCCACCTCTCCGAGTGTGCCCACGGTGCCCACTCC TCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02280.hp2 HG01175.hp1 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0004 a0002c0002t0004g0004	2	334	0.0060	-143	c.41 others(11): Show c.4198_*4340del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1662		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135567	TCCCGAGT others(136): Show TCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCA CGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCT CCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0032 a0003c0003t0032	a0003c0003t0032g0046 a0003c0003t0032g0046	1	334	0.0030	-143	c.35 others(11): Show c.3562_*3704del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1026		chr12	TogoVar
DHTKD1_chr10_12063954_12128221	12066227	GTGGCTCA others(136): Show GTGGCTCACGCCTGTAATCCTAGCACTTTGGAAGCCTGAGGCAGGCTGAT CACTTGAGGTCAGAAGCTCAAGACCAGCCTGGCCACCATGGTGAAAACCC TTATCTACTAAAAATACAAAAAAATTAGCCAGGGCTGGGCACGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0019 a0003c0003t0019	a0003c0003t0019g0227 a0003c0003t0019g0227	1	374	0.0027	-143	c.-28 others(11): Show c.-2806_-2664del		DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding					2726		chr10	TogoVar
DYNC2LI1_chr2_43769039_43815010	43793553	ATCTGTAT others(136): Show ATCTGTATATCTTCTTTGGCGAAATGTCTATTTGAGTCTTTTGCCTTCTT TTTTTTTTTTTTTAATATAGTTGAGTTGGGGTCTCACTATGTTGCCCAGG CTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCT	A A	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	294	0.0034	-143	c.321 others(15): Show c.321-901_321-759del		DYNC2LI1	ENSG00000138036.18	transcript	ENST00000260605.12	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
ENTPD5_chr14_73958230_74024288	74003870	GAGGATCA others(136): Show GAGGATCACTGGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACACAGCAA AACCCTATTAAAAAAAATTTTTTTTTAATGAAAAAATTAGCCAGGCATGG CAGTGCACACTTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp2 HG02622.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0360 a0001c0001t0012g0361 a0001c0001t0012g0360 a0001c0001t0012g0361	2	380	0.0053	-143	c.-71 others(17): Show c.-71+7078_-71+7220del		ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding	3/15						chr14	TogoVar
EVA1C_chr21_32407706_32520387	32477696	TCTCACCT others(136): Show TCTCACCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCC TCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGC CCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG00738.hp2 others(83): Show HG00423.hp2 HG00621.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02258.hp2 HG02300.hp1 HG02559.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03579.hp1 HG03927.hp2 HG04115.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18941.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18964.hp1 NA18968.hp1 NA18974.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19043.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19083.hp1 NA19087.hp1 NA19090.hp1 NA20129.hp1 NA20805.hp1 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0010 a0006c0017	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0004t0001 a0001c0006t0001 a0001c0010t0001 a0006c0017t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(83): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0002t0001g0005 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0018 a0001c0002t0001g0040 a0001c0002t0001g0045 a0001c0002t0001g0057 a0001c0002t0001g0089 a0001c0002t0001g0249 a0001c0002t0001g0253 a0001c0002t0001g0255 a0001c0002t0001g0259 a0001c0002t0001g0263 a0001c0002t0002g0258 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0271 a0001c0002t0002g0276 a0001c0002t0003g0115 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0004g0155 a0001c0004t0001g0027 a0001c0004t0001g0046 a0001c0004t0001g0280 a0001c0006t0001g0078 a0001c0010t0001g0250 a0006c0017t0001g0028	86	346	0.2486	-143	c.634 others(18): Show c.634+9871_634+10013del		EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr21	TogoVar
EXOC3L4_chr14_103089725_103115559	103109327	CCTCCCTC others(136): Show CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTC CACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCAT GTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0014 a0014	a0014c0049 a0014c0049	a0014c0049t0007 a0014c0049t0007	a0014c0049t0007g0336 a0014c0049t0007g0336	1	404	0.0025	-143	c.197 others(17): Show c.1977-702_1977-560del		EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
FAM149A_chr4_186099704_186180337	186173409	GTGGCACG others(136): Show GTGGCACGATCTCGGCTCACTACAACCTCCACCTCCTGGGCTCAAGCGAT TCTCCTGCTTCAGCCTCCTGGGTAGCTAGGATTACAGGTGCATGCCACCA CACCCAGCTAAATTTTTTTTGTATTTTTAGTAGAGGCAGGGTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(94): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01934.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02258.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02735.hp2 HG02886.hp1 HG02970.hp2 HG03041.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03654.hp2 HG03927.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18943.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18956.hp2 NA18961.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19068.hp2 NA19077.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0014 a0018 a0021 a0029	a0001c0001 a0001c0005 a0001c0010 others(11): Show a0001c0001 a0001c0005 a0001c0010 a0001c0014 a0002c0004 a0002c0007 a0004c0003 a0004c0008 a0005c0006 a0006c0023 a0014c0017 a0018c0061 a0021c0046 a0029c0041	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(25): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0077 a0001c0001t0082 a0001c0005t0001 a0001c0010t0021 a0001c0010t0064 a0001c0014t0016 a0001c0014t0059 a0002c0004t0001 a0002c0004t0010 a0002c0004t0081 a0002c0007t0001 a0002c0007t0011 a0002c0007t0021 a0002c0007t0053 a0004c0003t0006 a0004c0008t0006 a0004c0008t0034 a0005c0006t0001 a0005c0006t0006 a0005c0006t0025 a0006c0023t0001 a0014c0017t0006 a0018c0061t0025 a0021c0046t0016 a0029c0041t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(93): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0234 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0006g0030 a0001c0001t0006g0380 a0001c0001t0010g0333 a0001c0001t0010g0335 a0001c0001t0010g0337 a0001c0001t0010g0360 a0001c0001t0010g0377 a0001c0001t0010g0378 a0001c0001t0077g0083 a0001c0001t0082g0044 a0001c0005t0001g0136 a0001c0010t0021g0240 a0001c0010t0021g0241 a0001c0010t0064g0251 a0001c0014t0016g0004 a0001c0014t0016g0010 a0001c0014t0016g0011 a0001c0014t0059g0006 a0002c0004t0001g0001 a0002c0004t0001g0120 a0002c0004t0001g0150 a0002c0004t0001g0258 a0002c0004t0001g0310 a0002c0004t0001g0311 a0002c0004t0010g0318 a0002c0004t0010g0350 a0002c0004t0081g0053 a0002c0007t0001g0264 a0002c0007t0011g0239 a0002c0007t0011g0252 a0002c0007t0011g0255 a0002c0007t0011g0262 a0002c0007t0011g0263 a0002c0007t0011g0272 a0002c0007t0011g0274 a0002c0007t0021g0273 a0002c0007t0053g0302 a0004c0003t0006g0218 a0004c0008t0006g0159 a0004c0008t0006g0166 a0004c0008t0006g0189 a0004c0008t0006g0192 a0004c0008t0006g0213 a0004c0008t0006g0215 a0004c0008t0006g0235 a0004c0008t0034g0172 a0004c0008t0034g0175 a0005c0006t0001g0385 a0005c0006t0006g0193 a0005c0006t0006g0194 a0005c0006t0025g0015 a0006c0023t0001g0126 a0014c0017t0006g0191 a0014c0017t0006g0195 a0018c0061t0025g0246 a0021c0046t0016g0003 a0029c0041t0001g0045	97	390	0.2487	-143	c.14 others(11): Show c.1423_*1565del		FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	14/14				1423		chr4	TogoVar
FBXO36_chr2_229917503_230018119	230010495	GTGTGCAG others(136): Show GTGTGCAGAAGGGTATGTCCTTTAGATATATGTGCACTTACATATTTGTG TCTGGCTGTTTTCCTCAAAGAGGAGGTTTCTCAAGGCAGGACCTGTGTCT GGCACAGGTAGTGTTTCTCCAGTGTCCCACAGGCAGCAAGAGTT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0241 a0001c0001t0020g0241	1	342	0.0029	-143	c.379 others(14): Show c.379-198_379-56del		FBXO36	ENSG00000153832.12	transcript	ENST00000283946.8	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
FGD6_chr12_95071749_95222467	95148969	TATATATA others(136): Show TATATATATTATATAAGATATAGCATATATTATATATATTATATAAGATA TAGCATATATTATATATATTATATAAGATATAGCATATATTATATATATT ATATAAGATATAGCATATATTATATATATTATATAAGATATAGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02055.hp1 others(4): Show HG01109.hp2 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02258.hp1 HG02809.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0008 a0001c0001t0028 others(2): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0028 a0001c0001t0029 a0001c0003t0002	a0001c0001t0005g0306 a0001c0001t0008g0303 a0001c0001t0028g0298 others(4): Show a0001c0001t0005g0306 a0001c0001t0008g0303 a0001c0001t0028g0298 a0001c0001t0028g0310 a0001c0001t0029g0299 a0001c0001t0029g0307 a0001c0003t0002g0156	7	384	0.0182	-143	c.268 others(19): Show c.2685+3699_2685+3841del		FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20						chr12	TogoVar
GAL3ST2_chr2_241771822_241809287	241805864	TCCCCCCT others(136): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0035 a0001c0010t0001g0035	1	314	0.0032	-143	c.16 others(11): Show c.1699_*1841del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1578		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805903	TCCCCCCT others(136): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 NA19054.hp1 HG02559.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0092 a0002c0002t0002g0021 a0002c0002t0001g0092 a0002c0002t0002g0021	2	314	0.0064	-143	c.17 others(11): Show c.1738_*1880del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1617		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132233005	GAGGAGAC others(136): Show GAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGTCCCCTACTGCCACACACTCCATGGGGCGAC	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0008 a0001c0005t0001g0008	1	183	0.0055	-143	c.107 others(21): Show c.1077+14762_1077+14904del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233454	CCCTAGTG others(136): Show CCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCC CTAGTGCCACACACTCGATGGGGTGACAGAGGAGACAGTGTGGAGCCCCT AGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02976.hp2 HG03225.hp2 others(1): Show HG01175.hp1 HG02976.hp2 HG03225.hp2 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0010 a0001c0005 a0001c0010	a0001c0005t0001 a0001c0010t0001 a0001c0005t0001 a0001c0010t0001	a0001c0005t0001g0088 a0001c0010t0001g0085 a0001c0010t0001g0087 others(1): Show a0001c0005t0001g0088 a0001c0010t0001g0085 a0001c0010t0001g0087 a0001c0010t0001g0089	4	183	0.0219	-143	c.107 others(21): Show c.1077+14313_1077+14455del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
IL3RA_chrX_1331785_1387689	1367188	GGGGTGCG others(136): Show GGGGTGCGCCGGGTGAGCGGGGTGAGCGGGGTGAGCCGGGTGCGCGGGGT GCGCGGGGTGCGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCG GGGTGCGCGGGGTGCGCGGGGTGCGCGGGGTGAGCCGGGTGCGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0066 a0001c0003t0004g0066	1	115	0.0087	-143	c.874 others(17): Show c.874+1940_874+2082del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IPO11_chr5_62407763_62633582	62598379	GCTTGCTT others(136): Show GCTTGCTTGCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01884.hp2 HG01891.hp1 others(13): Show HG00741.hp1 HG01884.hp2 HG01891.hp1 HG01981.hp2 HG02451.hp2 HG02647.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02976.hp2 HG03098.hp1 HG03225.hp2 HG03540.hp2 HG04228.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0011	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0003t0004 a0002c0011t0003	a0001c0001t0001g0271 a0001c0002t0001g0243 a0001c0002t0003g0162 others(13): Show a0001c0001t0001g0271 a0001c0002t0001g0243 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0173 a0001c0002t0005g0329 a0001c0003t0004g0072 a0002c0011t0003g0172	16	330	0.0485	-143	c.267 others(19): Show c.2679-3384_2679-3242del		IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29						chr5	TogoVar
IPO11_chr5_62407763_62633582	62598406	TTCTTTCT others(136): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTTCTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(162): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01255.hp2 HG01257.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18947.hp2 NA18951.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19030.hp2 NA19062.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0004c0010	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0003t0001 a0001c0003t0004 a0001c0005t0001 a0001c0007t0004 a0004c0010t0001	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 others(162): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0270 a0001c0002t0005g0175 a0001c0002t0005g0207 a0001c0002t0005g0228 a0001c0002t0005g0245 a0001c0002t0005g0328 a0001c0002t0007g0186 a0001c0003t0001g0014 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0157 a0001c0003t0001g0263 a0001c0003t0001g0264 a0001c0003t0001g0265 a0001c0003t0001g0266 a0001c0003t0001g0267 a0001c0003t0001g0269 a0001c0003t0004g0069 a0001c0003t0004g0070 a0001c0003t0004g0071 a0001c0003t0004g0073 a0001c0003t0004g0079 a0001c0005t0001g0077 a0001c0005t0001g0078 a0001c0007t0004g0060 a0004c0010t0001g0045	165	330	0.5000	-143	c.267 others(19): Show c.2679-3356_2679-3214del		IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29					INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62598410	TTCTTTCT others(136): Show TTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTTCTTTCTTTTCTTTCTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0231 a0001c0002t0001g0231	1	330	0.0030	-143	c.267 others(19): Show c.2679-3352_2679-3210del		IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29					INFO_REALIGN_3_PRIME	chr5	TogoVar
KNOP1_chr16_19696937_19723227	19707737	AGCACTCC others(136): Show AGCACTCCCCCCACCTCCCTACACGGCGCACATGGCGCACCTCCTCCCAC CACGCTACACAGCACACTCTCCCCCTACCATCCTACAAAGCGCACCTCCC CTAACCACGCTACACAGTGCACTCCCCCCACCACCCTACACATC	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0151 a0005c0007t0002g0151	1	372	0.0027	-143	c.106 others(17): Show c.1066-659_1066-517del		KNOP1	ENSG00000103550.14	transcript	ENST00000219837.12	protein_coding	4/4						chr16	TogoVar
LAMA3_chr18_23684453_23960066	23911014	CAGTCATG others(136): Show CAGTCATGTTCCATTTCATGGTGATGCACATACAGGCATATTCTTCTCCC TCCCTTTCCTTAAATACAAGAAATATCTTAATTTAAAAAATTTAAAGGAA GAGTAGGAATTTGCCAGGTGACAAAAAGCAGGAGAGAATGCCAG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG01081.hp1 others(35): Show HG00438.hp1 HG00558.hp2 HG01081.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp2 HG02071.hp1 HG02083.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03225.hp2 HG03710.hp1 NA18942.hp2 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18955.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18970.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA19003.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19058.hp2 NA19074.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0005 a0009 others(1): Show a0001 a0005 a0009 a0031	a0001c0002 a0001c0054 a0005c0006 others(2): Show a0001c0002 a0001c0054 a0005c0006 a0009c0013 a0031c0045	a0001c0002t0001 a0001c0054t0001 a0005c0006t0001 others(2): Show a0001c0002t0001 a0001c0054t0001 a0005c0006t0001 a0009c0013t0001 a0031c0045t0001	a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0062 others(35): Show a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0071 a0001c0002t0001g0097 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0267 a0001c0054t0001g0083 a0005c0006t0001g0016 a0005c0006t0001g0038 a0005c0006t0001g0081 a0005c0006t0001g0084 a0005c0006t0001g0126 a0005c0006t0001g0132 a0005c0006t0001g0133 a0005c0006t0001g0135 a0005c0006t0001g0136 a0009c0013t0001g0019 a0009c0013t0001g0179 a0031c0045t0001g0131	38	280	0.1357	-143	c.715 others(19): Show c.7159-1696_7159-1554del		LAMA3	ENSG00000053747.17	transcript	ENST00000313654.14	protein_coding	55/74						chr18	TogoVar
LAMA3_chr18_23868020_23960066	23911014	CAGTCATG others(136): Show CAGTCATGTTCCATTTCATGGTGATGCACATACAGGCATATTCTTCTCCC TCCCTTTCCTTAAATACAAGAAATATCTTAATTTAAAAAATTTAAAGGAA GAGTAGGAATTTGCCAGGTGACAAAAAGCAGGAGAGAATGCCAG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00558.hp2 others(49): Show HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00609.hp1 HG01081.hp1 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02630.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03225.hp2 HG03710.hp2 NA18940.hp2 NA18942.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18981.hp1 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18995.hp2 NA19003.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp2 NA19058.hp1 NA19074.hp1 NA19077.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0024	a0001c0001 a0001c0007 a0001c0027 others(3): Show a0001c0001 a0001c0007 a0001c0027 a0003c0004 a0011c0018 a0024c0035	a0001c0001t0001 a0001c0007t0001 a0001c0027t0001 others(3): Show a0001c0001t0001 a0001c0007t0001 a0001c0027t0001 a0003c0004t0001 a0011c0018t0001 a0024c0035t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(43): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0007t0001g0049 a0001c0007t0001g0050 a0001c0027t0001g0167 a0003c0004t0001g0004 a0003c0004t0001g0187 a0003c0004t0001g0188 a0003c0004t0001g0189 a0003c0004t0001g0190 a0003c0004t0001g0198 a0003c0004t0001g0199 a0011c0018t0001g0195 a0024c0035t0001g0004	52	334	0.1557	-143	c.233 others(19): Show c.2332-1696_2332-1554del		LAMA3	ENSG00000053747.17	transcript	ENST00000269217.11	protein_coding	18/37						chr18	TogoVar
LAMB4_chr7_108018553_108135361	108043538	CTATGATG others(136): Show CTATGATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00738.hp1 others(116): Show HG00280.hp2 HG00423.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01943.hp2 HG01981.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA18957.hp2 NA18963.hp2 NA18970.hp1 NA18971.hp2 NA18975.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19007.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(27): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0025 a0026 a0029 a0033 a0035 a0038 a0039 a0040 a0041 a0042	a0001c0001 a0001c0002 a0001c0054 others(51): Show a0001c0001 a0001c0002 a0001c0054 a0001c0060 a0001c0066 a0001c0070 a0002c0003 a0002c0007 a0002c0012 a0002c0049 a0003c0004 a0005c0008 a0005c0023 a0006c0016 a0006c0027 a0007c0011 a0007c0019 a0007c0037 a0008c0015 a0008c0038 a0008c0039 a0008c0044 a0009c0009 a0010c0013 a0012c0022 a0012c0059 a0012c0069 a0013c0026 a0013c0068 a0014c0025 a0014c0058 a0016c0055 a0016c0061 a0016c0062 a0017c0030 a0017c0043 a0018c0024 a0019c0020 a0020c0021 a0021c0028 a0021c0040 a0022c0029 a0022c0034 a0023c0018 a0025c0057 a0026c0056 a0029c0067 a0033c0051 a0035c0046 a0038c0036 a0039c0032 a0040c0031 a0041c0033 a0042c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(58): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0054t0001 a0001c0060t0004 a0001c0066t0001 a0001c0070t0001 a0002c0003t0001 a0002c0003t0003 a0002c0007t0001 a0002c0012t0001 a0002c0049t0001 a0003c0004t0002 a0005c0008t0002 a0005c0023t0002 a0006c0016t0002 a0006c0027t0001 a0007c0011t0001 a0007c0011t0002 a0007c0019t0002 a0007c0037t0002 a0008c0015t0002 a0008c0038t0002 a0008c0039t0002 a0008c0044t0002 a0009c0009t0001 a0010c0013t0002 a0012c0022t0002 a0012c0059t0002 a0012c0069t0001 a0013c0026t0002 a0013c0068t0002 a0014c0025t0001 a0014c0025t0002 a0014c0058t0002 a0016c0055t0002 a0016c0061t0002 a0016c0062t0001 a0017c0030t0002 a0017c0043t0001 a0018c0024t0001 a0019c0020t0001 a0020c0021t0002 a0021c0028t0002 a0021c0040t0002 a0022c0029t0002 a0022c0034t0001 a0023c0018t0002 a0025c0057t0002 a0026c0056t0002 a0029c0067t0002 a0033c0051t0001 a0035c0046t0002 a0038c0036t0002 a0039c0032t0002 a0040c0031t0002 a0041c0033t0001 a0042c0035t0002	a0001c0001t0001g0014 a0001c0001t0002g0208 a0001c0001t0003g0255 others(116): Show a0001c0001t0001g0014 a0001c0001t0002g0208 a0001c0001t0003g0255 a0001c0002t0001g0019 a0001c0002t0001g0052 a0001c0002t0001g0066 a0001c0002t0001g0183 a0001c0002t0002g0149 a0001c0002t0003g0162 a0001c0054t0001g0146 a0001c0060t0004g0216 a0001c0066t0001g0012 a0001c0070t0001g0246 a0002c0003t0001g0082 a0002c0003t0001g0112 a0002c0003t0001g0113 a0002c0003t0001g0114 a0002c0003t0001g0120 a0002c0003t0001g0122 a0002c0003t0001g0126 a0002c0003t0001g0129 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0135 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0141 a0002c0003t0001g0182 a0002c0003t0003g0130 a0002c0007t0001g0124 a0002c0007t0001g0125 a0002c0007t0001g0127 a0002c0007t0001g0128 a0002c0007t0001g0136 a0002c0007t0001g0140 a0002c0012t0001g0196 a0002c0012t0001g0207 a0002c0012t0001g0248 a0002c0049t0001g0204 a0003c0004t0002g0007 a0003c0004t0002g0175 a0003c0004t0002g0189 a0003c0004t0002g0217 a0003c0004t0002g0218 a0003c0004t0002g0225 a0003c0004t0002g0231 a0003c0004t0002g0243 a0003c0004t0002g0244 a0003c0004t0002g0268 a0003c0004t0002g0269 a0003c0004t0002g0281 a0005c0008t0002g0105 a0005c0008t0002g0110 a0005c0008t0002g0187 a0005c0008t0002g0223 a0005c0008t0002g0271 a0005c0008t0002g0274 a0005c0023t0002g0027 a0005c0023t0002g0215 a0006c0016t0002g0086 a0006c0027t0001g0085 a0007c0011t0001g0100 a0007c0011t0002g0102 a0007c0011t0002g0156 a0007c0011t0002g0157 a0007c0019t0002g0005 a0007c0019t0002g0096 a0007c0037t0002g0093 a0008c0015t0002g0001 a0008c0015t0002g0002 a0008c0015t0002g0087 a0008c0038t0002g0152 a0008c0039t0002g0147 a0008c0044t0002g0091 a0009c0009t0001g0010 a0009c0009t0001g0266 a0009c0009t0001g0267 a0010c0013t0002g0161 a0010c0013t0002g0171 a0010c0013t0002g0173 a0010c0013t0002g0221 a0012c0022t0002g0148 a0012c0022t0002g0279 a0012c0059t0002g0222 a0012c0069t0001g0158 a0013c0026t0002g0153 a0013c0026t0002g0154 a0013c0068t0002g0227 a0014c0025t0001g0118 a0014c0025t0002g0233 a0014c0058t0002g0057 a0016c0055t0002g0213 a0016c0061t0002g0155 a0016c0062t0001g0160 a0017c0030t0002g0286 a0017c0043t0001g0084 a0018c0024t0001g0108 a0018c0024t0001g0109 a0019c0020t0001g0088 a0019c0020t0001g0097 a0020c0021t0002g0098 a0020c0021t0002g0099 a0021c0028t0002g0092 a0021c0040t0002g0004 a0022c0029t0002g0284 a0022c0034t0001g0103 a0023c0018t0002g0095 a0023c0018t0002g0285 a0025c0057t0002g0280 a0026c0056t0002g0232 a0029c0067t0002g0257 a0033c0051t0001g0205 a0035c0046t0002g0211 a0038c0036t0002g0089 a0039c0032t0002g0287 a0040c0031t0002g0006 a0041c0033t0001g0090 a0042c0035t0002g0094	119	292	0.4075	-143	c.447 others(16): Show c.4471+71_4471+213del		LAMB4	ENSG00000091128.13	transcript	ENST00000388781.8	protein_coding	29/33						chr7	TogoVar
LCN15_chr9_136754634_136769518	136769375	CCCCGCCA others(136): Show CCCCGCCACCACCCCATGCACTGCCCCCCCCGCCACCCCGCCACCCCCCC ATGCACTTCCCCCCCGCCACCCCGCCACCCCCCATGCACTGCCCCCCCCG ACACCCCGACACCCCCCATGCACTGCCCCCCCGCCACCCCGCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 NA18959.hp2 NA19054.hp1 others(1): Show HG02523.hp1 NA18959.hp2 NA19054.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0001 a0001c0001t0001g0012	4	356	0.0112	-143	c.-50 others(11): Show c.-5030_-4888del		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4858		chr9	TogoVar
LIPI_chr21_14103813_14215955	14161691	GTATAATA others(136): Show GTATAATATATACATTATTATATATTAATATATAATATATACATTATTAT ATATTAATATATAATATATACATTATTATATATTAATATATAATATATAC ATTATTATATATTAATGTATAATATATACAAATATATATTAATA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02976.hp2 others(2): Show HG02896.hp1 HG02897.hp1 HG02976.hp2 HG06807.hp2 NA18945.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0003 a0002c0002 a0004c0003	a0002c0002t0003 a0004c0003t0001 a0002c0002t0003 a0004c0003t0001	a0002c0002t0003g0227 a0004c0003t0001g0220 a0004c0003t0001g0221 others(2): Show a0002c0002t0003g0227 a0004c0003t0001g0220 a0004c0003t0001g0221 a0004c0003t0001g0264 a0004c0003t0001g0267	5	362	0.0138	-143	c.100 others(19): Show c.1006+1585_1006+1727del		LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding	7/9						chr21	TogoVar
LRBA_chr4_150259435_151020284	150271394	AAGCCAGG others(136): Show AAGCCAGGGAGCCAAGTGGTCTGGCTCGGTGGGTCCCACTCCCATGGAGC CCAGCAAGCTAAGATCCACTGGCTTGAAATTCTTGCTGCCAGCACAGCAG TCTGAAGTTGACCTGGGACACTCAAGCTTGGTGGGGGGAGGAGC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00733.hp1 HG01255.hp1 others(54): Show HG00621.hp2 HG00733.hp1 HG01255.hp1 HG01515.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp2 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG04115.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18948.hp2 NA18959.hp1 NA18979.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0012 a0015 a0016 a0023	a0001c0001 a0001c0013 a0001c0014 others(19): Show a0001c0001 a0001c0013 a0001c0014 a0001c0019 a0001c0037 a0002c0002 a0002c0015 a0002c0022 a0003c0004 a0003c0012 a0003c0035 a0004c0006 a0005c0011 a0006c0008 a0007c0009 a0008c0016 a0008c0020 a0009c0010 a0012c0018 a0015c0029 a0016c0028 a0023c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0013t0003 a0001c0014t0003 a0001c0019t0002 a0001c0037t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0008 a0002c0015t0003 a0002c0022t0003 a0003c0004t0003 a0003c0012t0003 a0003c0035t0003 a0004c0006t0003 a0005c0011t0001 a0006c0008t0002 a0006c0008t0003 a0007c0009t0003 a0008c0016t0003 a0008c0020t0003 a0009c0010t0001 a0012c0018t0001 a0015c0029t0001 a0016c0028t0003 a0023c0041t0003	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0015 others(54): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0170 a0001c0001t0003g0037 a0001c0001t0003g0045 a0001c0001t0003g0052 a0001c0001t0003g0056 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0007g0050 a0001c0013t0003g0095 a0001c0013t0003g0096 a0001c0014t0003g0053 a0001c0014t0003g0054 a0001c0019t0002g0123 a0001c0037t0003g0175 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0137 a0002c0002t0001g0152 a0002c0002t0003g0124 a0002c0002t0003g0125 a0002c0002t0003g0135 a0002c0002t0003g0138 a0002c0002t0008g0141 a0002c0015t0003g0061 a0002c0022t0003g0114 a0003c0004t0003g0158 a0003c0012t0003g0078 a0003c0035t0003g0154 a0004c0006t0003g0128 a0004c0006t0003g0142 a0004c0006t0003g0150 a0005c0011t0001g0168 a0005c0011t0001g0169 a0006c0008t0002g0116 a0006c0008t0003g0115 a0007c0009t0003g0008 a0008c0016t0003g0127 a0008c0020t0003g0006 a0009c0010t0001g0131 a0009c0010t0001g0132 a0012c0018t0001g0126 a0015c0029t0001g0017 a0016c0028t0003g0118 a0023c0041t0003g0173	57	180	0.3167	-143	c.846 others(19): Show c.8469-5725_8469-5583del		LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	56/56						chr4	TogoVar
MACROD2_chr20_13990516_16058197	15771312	CTATAGGC others(136): Show CTATAGGCACACACCACCACACCTGGCTAATTATTATTATTATTTTTTTT TTGTAAAGATGGGATTTTGCCATGTAGTTCAGGCTGGTCTCAAATTCCTG GGCTCAAGTGAACCTCCCACCTTGGCCTTCCAAAGTGCTACGAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG02976.hp1 others(1): Show HG02257.hp2 HG02559.hp1 HG02976.hp1 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0001c0001t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0004g0008 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0004g0008 a0002c0002t0001g0017	4	24	0.1667	-143	c.646 others(19): Show c.646-91429_646-91287del		MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	8/17					INFO_REALIGN_3_PRIME	chr20	TogoVar
MAP3K15_chrX_19355059_19520508	19452088	GAGAAGAG others(136): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	163	0.0061	-143	c.995 others(17): Show c.995+4682_995+4824del		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28						chrX	TogoVar
MARCHF1_chr4_163519718_164389019	163595095	CGAGTGGC others(136): Show CGAGTGGCTCATGCCTGTAAACTCAGCACTTTGGGAGGCCAAGGCGGGAG GACTGCTTGAGCTCAGTTTGAGAGTGAAGCTACGGAAACAACCTAAATGT CCATCAACTTATCAATAGAGAAAGAAAATATGGTATAAGCCAGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp2 HG00741.hp2 others(43): Show HG00438.hp1 HG00639.hp2 HG00741.hp2 HG01071.hp2 HG01109.hp1 HG01884.hp1 HG01884.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02080.hp1 HG02132.hp2 HG02165.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02723.hp1 HG02809.hp2 HG03041.hp1 HG03139.hp2 HG03453.hp2 HG03490.hp2 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG04115.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18944.hp2 NA18952.hp1 NA18963.hp1 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18984.hp1 NA19009.hp1 NA19030.hp1 NA19058.hp1 NA19066.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(17): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0002t0002 a0001c0002t0003 a0001c0002t0015 a0001c0002t0028 a0001c0008t0012 a0002c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0019 others(43): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0064 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0004g0052 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0068 a0001c0001t0004g0090 a0001c0001t0005g0029 a0001c0001t0005g0037 a0001c0001t0006g0008 a0001c0001t0006g0059 a0001c0001t0006g0087 a0001c0001t0006g0098 a0001c0001t0007g0043 a0001c0001t0008g0084 a0001c0001t0010g0063 a0001c0001t0013g0018 a0001c0001t0017g0039 a0001c0001t0018g0079 a0001c0001t0019g0067 a0001c0001t0021g0028 a0001c0001t0022g0040 a0001c0001t0025g0101 a0001c0002t0002g0020 a0001c0002t0002g0062 a0001c0002t0002g0080 a0001c0002t0002g0092 a0001c0002t0002g0097 a0001c0002t0003g0004 a0001c0002t0003g0060 a0001c0002t0003g0082 a0001c0002t0015g0012 a0001c0002t0015g0050 a0001c0002t0028g0099 a0001c0008t0012g0026 a0002c0003t0001g0005 a0002c0003t0001g0006	46	102	0.4510	-143	c.101 others(19): Show c.1011-9309_1011-9167del		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	7/9						chr4	TogoVar
MBD3L4_chr19_7032749_7045179	7035882	ATATAATA others(136): Show ATATAATATAATTCTATAACATATAAATTATATTATATATAATATAATTA TATAACATATAAATTATATTATATATAATATAATTATATAACATATAAAT TATATTATATATAATATAATTATATAACATATAAATTATATTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0013 a0004c0004t0002g0013	1	262	0.0038	-143	c.18 others(11): Show c.1836_*1978del		MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding					1866		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035882	ATATAATA others(136): Show ATATAATATAATTCTATAACATATAAATTATATTATATATAATATAATTA TATAACATATAAATTATATTATATATAATATAATTATATAACATATAAAT TATATTATATATAATATAATTATATAACATATAAATTATATTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	249	0.0040	-143	c.29 others(11): Show c.2989_*3131del		MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding					2872		chr19	TogoVar
MBTPS1_chr16_84048763_84121942	84051526	GCAAGGCC others(136): Show GCAAGGCCCGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGAGTAAG GAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCACATGT GGGTAAGGAGAGTGGCAAGGCCCGCATGTGGGTAAGGAGAGCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0198 a0001c0001t0006g0198	1	424	0.0024	-143	c.27 others(11): Show c.2780_*2922del		MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding					2236		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84051883	GGTAAGGA others(136): Show GGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCC GCATGTGCGTAAGGAGAGCGGCAAGGCCCGCATGTGCGTAAGGAGAGCTG CAAGGCCGCATGTGGGTAAGGAGAGCGGCAAGGCCCCCATGTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02486.hp1 HG02717.hp2 HG01243.hp2 HG02486.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0194 a0001c0001t0006g0197 a0001c0001t0006g0198 a0001c0001t0006g0194 a0001c0001t0006g0197 a0001c0001t0006g0198	3	424	0.0071	-143	c.24 others(11): Show c.2423_*2565del		MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding					1879		chr16	TogoVar
MGAM_chr7_141990879_142111747	142042180	CATATTAT others(136): Show CATATTATATATACATATAATATATAACATATTATATATACATATAATAT ATAACATATATTATATATACATATAATATATAACATATATTATATATACA TATAATATATAACATATATTATATATACATATAATATATAACAT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02027.hp2 HG02071.hp1 others(8): Show HG01952.hp2 HG02027.hp2 HG02071.hp1 HG02155.hp1 HG03195.hp1 HG03688.hp2 HG03927.hp1 HG04115.hp2 NA18971.hp1 NA19011.hp2 NA20905.hp1	a0001 a0002 a0057 a0001 a0002 a0057	a0001c0001 a0001c0030 a0001c0032 others(5): Show a0001c0001 a0001c0030 a0001c0032 a0001c0080 a0001c0087 a0001c0090 a0002c0002 a0057c0052	a0001c0001t0001 a0001c0030t0001 a0001c0032t0001 others(5): Show a0001c0001t0001 a0001c0030t0001 a0001c0032t0001 a0001c0080t0001 a0001c0087t0001 a0001c0090t0001 a0002c0002t0001 a0057c0052t0001	a0001c0001t0001g0075 a0001c0030t0001g0261 a0001c0030t0001g0262 others(8): Show a0001c0001t0001g0075 a0001c0030t0001g0261 a0001c0030t0001g0262 a0001c0032t0001g0257 a0001c0032t0001g0259 a0001c0080t0001g0234 a0001c0087t0001g0269 a0001c0090t0001g0010 a0002c0002t0001g0037 a0002c0002t0001g0190 a0057c0052t0001g0235	11	316	0.0348	-143	c.249 others(19): Show c.2498+1366_2498+1508del		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC4_chr3_195741771_195816929	195780335	TGGTGACA others(136): Show TGGTGACAGGAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTG GTGACATGAAGAGGGGTGACGTGACCTGTAGATACTGAGGAAGTGCTGGT GACAGGAAGAGGGGTGGTGTGACCTGAGGATGATGAGGAAGGGA	T T	frameshift_variant frameshift_variant	HIGH	HG03098.hp2 HG03098.hp2	a0069 a0069	a0069c0172 a0069c0172	a0069c0172t0005 a0069c0172t0005	a0069c0172t0005g0230 a0069c0172t0005g0230	1	249	0.0040	-143	c.111 others(11): Show c.11102_11244del	p.Ile others(6): Show p.Ile3701fs	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	11356/16756	11102/16239	3701/5412			chr3	TogoVar
MYZAP_chr15_57586904_57690364	57688253	TATATTAT others(136): Show TATATTATGTGTGTACAATATACACATATATTATGTGTGTACAATATACA CATATATAATATGTGTGTACAATATACACATATATATAATATGTGTGTAC AATATACACATATATATAATATGTGTGTACAATATACACATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 NA20129.hp1 HG02486.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0093 a0002c0002t0002g0095 a0002c0002t0002g0093 a0002c0002t0002g0095	2	352	0.0057	-143	c.37 others(11): Show c.3756_*3898del		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2890		chr15	TogoVar

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