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
ACOXL_chr2_110727573_111123548	110924785	T T	TGAATCAC others(291): Show TGAATCACAAATGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG01175.hp2 others(9): Show HG00423.hp1 HG00673.hp1 HG01175.hp2 HG01255.hp2 HG03831.hp1 NA18612.hp2 NA18962.hp1 NA18974.hp1 NA18993.hp2 NA19002.hp1 NA19011.hp2 NA19062.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0005c0007	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(5): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0003c0004t0001 a0003c0004t0002 a0005c0007t0002 a0005c0007t0004	a0001c0001t0001g0079 a0002c0002t0001g0022 a0002c0002t0001g0051 others(9): Show a0001c0001t0001g0079 a0002c0002t0001g0022 a0002c0002t0001g0051 a0002c0002t0001g0058 a0002c0002t0003g0139 a0002c0002t0003g0141 a0002c0002t0004g0142 a0003c0004t0001g0092 a0003c0004t0002g0078 a0003c0004t0002g0097 a0005c0007t0002g0049 a0005c0007t0004g0144	12	140	0.0857	298	c.906 others(315): Show c.906-8687_906-8686insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTAGAATCACAAATGTTCTT	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOXL_chr2_110727573_111123548	110924785	T T	TGAATCAC others(291): Show TGAATCACAAATGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCTGCTAATTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0101 a0002c0002t0001g0101	1	129	0.0078	298	c.906 others(315): Show c.906-8687_906-8686insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCTGCTAATTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTAGAATCACAAATGTTCTT	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500842	A A	AGGGAGGA others(291): Show AGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAG GGGAGGGGGGAGGAGGGAGGAGGGGAGGGAGGAGAGGGGGAGGGGGAGAG GGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGA AGGGGAGGGGGAGGAGGGGAGGAGGGGGGGAGGAGGGGAAGGGGAGGGGG AGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGGAGG GCGGGGAGGAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGGGGAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0074 a0001c0001t0008g0074	1	317	0.0032	298	c.51 others(309): Show c.5172_*5173insCTCCTCCCCCCCTCCCCTCCTCCCTCCTCCCCCG TCCCCTCCTCCCCGCCCTCCCCTCCTCCCCCGTCCCCTCCTCCCCGCCCT CCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCCCTCCTCCCC TCCTCCCCCTCCCCTTCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCC CCCTCCCCTCCTCCCCTCTCCCCCTCCCCCTCTCCTCCCTCCCCTCCTCC CTCCTCCCCCCTCCCCTCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCT CTTCCCCTCCTCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4179		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500842	A A	AGGGAGGA others(291): Show AGGGAGGAGGGGAAGAGGGGGGGGGAGGGGGAGGAGGGGAGGGGGGGAGG GGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGAGGAGGGGAGGGGGG AGGAGGGGAGGGGGGAGGAGGGAGAGGGAGGAGGGGAGGGGGAGAGGGGG GAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGG GGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAG GGGAAGGGGAGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0042 a0001c0001t0009g0042	1	317	0.0032	298	c.51 others(309): Show c.5172_*5173insCGTCCCCTCCTCCCCGCCCTCCCCTCCTCCCCCC TCCCCTCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCC CCCTTCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCTCCCCTCC TCCCCTCTCCCCCTCCCCCCTCTCCCCCTCCCCTCCTCCCTCTCCCTCCT CCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCCCCTCCTCCCCCCTCCC CTCCTCCCTCCTCCCCCTCCCCCCCTCCCCTCCTCCCCCTCCCCCCCCCT CTTCCCCTCCTCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4179		chr19	TogoVar
ADCY1_chr7_45569368_45728116	45610997	G G	GTGGAGGT others(291): Show GTGGAGGTGATGATGGAGGTGTGGAGGTGATGGCAAAGTTGGAGAAGTGA TGATGGAAGTGAGGAGGTGATAGTGGAGGTGTGGGGGTGATGGTGGAGGT GGGGAGGTGATGGTGGAGGTGTGGAGGTGATAGTGGAGGTGCGGAGGTGA TATTGGAGGTGTGGAGGTGATGGTGGAGGTGGGAAGGTGATGGAGGTGGG GAGGTGATAATGGAAGTATGGAGGTGATTTTGGAGGTGAGGAGGTGATAA TGGAGGTATGGAGGTGATGATGGAGGTGCAGGGGGTGATAGTGGAAGCA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01109.hp1 HG01257.hp1 others(8): Show HG01106.hp1 HG01109.hp1 HG01257.hp1 HG01258.hp1 HG01981.hp2 HG02280.hp2 HG02451.hp2 HG02647.hp2 HG03139.hp2 HG03516.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0011 a0001c0001t0017 others(5): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0017 a0001c0001t0038 a0001c0001t0058 a0001c0002t0012 a0001c0002t0027 a0002c0003t0007	a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0011g0035 others(8): Show a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0011g0035 a0001c0001t0017g0029 a0001c0001t0038g0030 a0001c0001t0058g0027 a0001c0002t0012g0015 a0001c0002t0027g0006 a0002c0003t0007g0032 a0002c0003t0007g0033 a0002c0003t0007g0034	11	274	0.0401	298	c.908 others(313): Show c.908+508_908+509insATGATGGAGGTGTGGAGGTGATGGCAAAGT TGGAGAAGTGATGATGGAAGTGAGGAGGTGATAGTGGAGGTGTGGGGGTG ATGGTGGAGGTGGGGAGGTGATGGTGGAGGTGTGGAGGTGATAGTGGAGG TGCGGAGGTGATATTGGAGGTGTGGAGGTGATGGTGGAGGTGGGAAGGTG ATGGAGGTGGGGAGGTGATAATGGAAGTATGGAGGTGATTTTGGAGGTGA GGAGGTGATAATGGAGGTATGGAGGTGATGATGGAGGTGCAGGGGGTGAT AGTGGAAGCATGGAGGTG	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADCY1_chr7_45569368_45728116	45611031	A A	AAAGTTGG others(291): Show AAAGTTGGAGAAGTGATGATGGAAGTGAGGAGGTGATAGTGGAGGTGTGG GGGTGATGGTGGAGGTGGGGAGGTGATGGTGGAGGTGTGGAGGTGATAGT GGAGGTGCGGAGGTGATATTGGAGGTGTGGAGGTGATGGTGGAGGTGGGA AGGTGATGGAGGTGGGGAGGTGATAATGGAAGTATGGAGGTGATTTTGGA GGTGAGGAGGTGATAATGGAGGTATGGAGGTGATGATGGAGGTGCAGGGG GTGATAGTGGAAGCATGGAGGTGATGGTGGAGGCGTGGAGGTGATGGCG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00673.hp2 HG01891.hp1 others(7): Show HG00140.hp2 HG00673.hp2 HG01891.hp1 HG03017.hp1 HG03239.hp1 HG03688.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0001t0051 a0001c0001t0052 a0001c0001t0071	a0001c0001t0001g0256 a0001c0001t0008g0009 a0001c0001t0008g0010 others(7): Show a0001c0001t0001g0256 a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0012 a0001c0001t0008g0013 a0001c0001t0008g0257 a0001c0001t0011g0026 a0001c0001t0051g0240 a0001c0001t0052g0011 a0001c0001t0071g0014	10	24	0.4167	298	c.908 others(313): Show c.908+616_908+617insGGTGTGGAGGTGATAGTGGAGGTGCGGAGG TGATATTGGAGGTGTGGAGGTGATGGTGGAGGTGGGAAGGTGATGGAGGT GGGGAGGTGATAATGGAAGTATGGAGGTGATTTTGGAGGTGAGGAGGTGA TAATGGAGGTATGGAGGTGATGATGGAGGTGCAGGGGGTGATAGTGGAAG CATGGAGGTGATGGTGGAGGCGTGGAGGTGATGGCGAAGTTGGAGAAGTG ATGATGGAAGTGAGGAGGTGATAGTGGAGGTGTGGGGGTGATGGTGGAGG TGGGGAGGTGATGGTGGA	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADCY1_chr7_45569368_45728116	45611031	A A	AAAGTTGG others(291): Show AAAGTTGGAGAAGTGATGATGGAAGTGAGGAGGTGATAGTGGAGGTGTGG GGGTGATGGTGGAGGTGGGGAGGTGATGGTGGAGGTGTGGAGGTGATAGT GGAGGTGCGGAGGTGATATTGGAGGTGTGGAGGTGATGGTGGAGGTGGGA AGGTGATGGAGGTGGGGAGGTGATAATGGAAGTATGGAGGTGATTTTGGA GGTGAGGAGGTGATAATGGAGGTATGGAGGTGATGATGGAGGTGCGGGGG GTGATAGTGGAAGCATGGAGGTGATGGTGGAGGCGTGGAGGTGATGGCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(244): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 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 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0005 others(15): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0013 a0001c0014 a0001c0016 a0001c0018 a0002c0003 a0003c0004 a0004c0011 a0005c0017 a0006c0010 a0007c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(73): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0002t0003 a0001c0002t0010 a0001c0002t0012 a0001c0002t0020 a0001c0002t0027 a0001c0002t0037 a0001c0002t0045 a0001c0002t0046 a0001c0002t0056 a0001c0002t0057 a0001c0002t0069 a0001c0005t0026 a0001c0006t0024 a0001c0007t0005 a0001c0008t0001 a0001c0009t0006 a0001c0012t0041 a0001c0013t0001 a0001c0014t0004 a0001c0016t0001 a0001c0018t0004 a0002c0003t0007 a0003c0004t0001 a0003c0004t0002 a0003c0004t0034 a0004c0011t0001 a0005c0017t0001 a0006c0010t0014 a0007c0015t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0024 others(240): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0260 a0001c0001t0001g0270 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0037 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0096 a0001c0001t0002g0108 a0001c0001t0002g0123 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0261 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0273 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0094 a0001c0001t0004g0126 a0001c0001t0004g0146 a0001c0001t0004g0162 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0204 a0001c0001t0004g0272 a0001c0001t0005g0002 a0001c0001t0005g0087 a0001c0001t0005g0157 a0001c0001t0005g0181 a0001c0001t0005g0184 a0001c0001t0005g0193 a0001c0001t0005g0219 a0001c0001t0005g0229 a0001c0001t0005g0230 a0001c0001t0006g0045 a0001c0001t0006g0048 a0001c0001t0006g0050 a0001c0001t0006g0052 a0001c0001t0006g0054 a0001c0001t0006g0060 a0001c0001t0009g0001 a0001c0001t0009g0081 a0001c0001t0009g0084 a0001c0001t0009g0085 a0001c0001t0011g0038 a0001c0001t0013g0200 a0001c0001t0013g0201 a0001c0001t0013g0212 a0001c0001t0013g0213 a0001c0001t0014g0165 a0001c0001t0014g0226 a0001c0001t0014g0254 a0001c0001t0015g0042 a0001c0001t0015g0049 a0001c0001t0015g0057 a0001c0001t0016g0051 a0001c0001t0016g0055 a0001c0001t0016g0058 a0001c0001t0017g0097 a0001c0001t0017g0233 a0001c0001t0018g0139 a0001c0001t0018g0192 a0001c0001t0019g0112 a0001c0001t0019g0132 a0001c0001t0019g0137 a0001c0001t0021g0041 a0001c0001t0021g0044 a0001c0001t0022g0040 a0001c0001t0022g0043 a0001c0001t0023g0046 a0001c0001t0023g0061 a0001c0001t0025g0205 a0001c0001t0025g0221 a0001c0001t0028g0005 a0001c0001t0029g0131 a0001c0001t0029g0210 a0001c0001t0030g0202 a0001c0001t0030g0203 a0001c0001t0031g0099 a0001c0001t0032g0059 a0001c0001t0033g0047 a0001c0001t0039g0145 a0001c0001t0040g0117 a0001c0001t0042g0073 a0001c0001t0043g0244 a0001c0001t0044g0065 a0001c0001t0047g0253 a0001c0001t0048g0255 a0001c0001t0049g0235 a0001c0001t0050g0075 a0001c0001t0053g0072 a0001c0001t0054g0156 a0001c0001t0055g0019 a0001c0001t0059g0209 a0001c0001t0060g0025 a0001c0001t0061g0003 a0001c0001t0062g0179 a0001c0001t0063g0238 a0001c0001t0064g0066 a0001c0001t0065g0110 a0001c0001t0066g0122 a0001c0001t0067g0206 a0001c0001t0068g0223 a0001c0001t0070g0218 a0001c0002t0003g0016 a0001c0002t0003g0018 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0082 a0001c0002t0003g0093 a0001c0002t0003g0109 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0116 a0001c0002t0003g0118 a0001c0002t0003g0119 a0001c0002t0003g0120 a0001c0002t0003g0125 a0001c0002t0003g0127 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0003g0150 a0001c0002t0003g0164 a0001c0002t0003g0180 a0001c0002t0003g0182 a0001c0002t0003g0194 a0001c0002t0003g0195 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0250 a0001c0002t0003g0258 a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0002t0003g0271 a0001c0002t0010g0098 a0001c0002t0010g0100 a0001c0002t0010g0101 a0001c0002t0010g0183 a0001c0002t0012g0111 a0001c0002t0012g0140 a0001c0002t0012g0166 a0001c0002t0020g0039 a0001c0002t0020g0053 a0001c0002t0027g0263 a0001c0002t0037g0083 a0001c0002t0045g0008 a0001c0002t0046g0259 a0001c0002t0056g0262 a0001c0002t0057g0189 a0001c0002t0069g0020 a0001c0005t0026g0121 a0001c0005t0026g0172 a0001c0006t0024g0079 a0001c0006t0024g0080 a0001c0007t0005g0232 a0001c0008t0001g0243 a0001c0009t0006g0062 a0001c0012t0041g0036 a0001c0013t0001g0222 a0001c0014t0004g0163 a0001c0016t0001g0136 a0001c0018t0004g0153 a0002c0003t0007g0128 a0002c0003t0007g0160 a0003c0004t0001g0224 a0003c0004t0002g0134 a0003c0004t0034g0056 a0004c0011t0001g0177 a0005c0017t0001g0152 a0006c0010t0014g0245 a0007c0015t0001g0242	247	261	0.9464	298	c.908 others(313): Show c.908+616_908+617insGGTGTGGAGGTGATAGTGGAGGTGCGGAGG TGATATTGGAGGTGTGGAGGTGATGGTGGAGGTGGGAAGGTGATGGAGGT GGGGAGGTGATAATGGAAGTATGGAGGTGATTTTGGAGGTGAGGAGGTGA TAATGGAGGTATGGAGGTGATGATGGAGGTGCGGGGGGTGATAGTGGAAG CATGGAGGTGATGGTGGAGGCGTGGAGGTGATGGCGAAGTTGGAGAAGTG ATGATGGAAGTGAGGAGGTGATAGTGGAGGTGTGGGGGTGATGGTGGAGG TGGGGAGGTGATGGTGGA	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADCY1_chr7_45569368_45728116	45611031	A A	AAAGTTGG others(291): Show AAAGTTGGAGAAGTGATGATGGAAGTGAGGAGGTGATAGTGGAGGTGTGG GGGTGATGGTGGAGGTGGGGAGGTGATGGTGGAGGTGTGGAGGTGATAGT GGAGGTGCGGAGGTGATATTGGAGGTGTGGAGGTGATGGTGGAGGTGGGA AGGTGATGGAGGTGGGGAGGTGATAATGGAAGTATGGAGGTGATTTTGGG GGTGAGGAGGTGATAATGGAGGTATGGAGGTGATGATGGAGGTGCGGGGG GTGATAGTGGAAGCATGGAGGTGATGGTGGAGGCGTGGAGGTGATGGCG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	15	0.0667	298	c.908 others(313): Show c.908+616_908+617insGGTGTGGAGGTGATAGTGGAGGTGCGGAGG TGATATTGGAGGTGTGGAGGTGATGGTGGAGGTGGGAAGGTGATGGAGGT GGGGAGGTGATAATGGAAGTATGGAGGTGATTTTGGGGGTGAGGAGGTGA TAATGGAGGTATGGAGGTGATGATGGAGGTGCGGGGGGTGATAGTGGAAG CATGGAGGTGATGGTGGAGGCGTGGAGGTGATGGCGAAGTTGGAGAAGTG ATGATGGAAGTGAGGAGGTGATAGTGGAGGTGTGGGGGTGATGGTGGAGG TGGGGAGGTGATGGTGGA	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADCY1_chr7_45569368_45728116	45611105	G G	GATGGTGG others(291): Show GATGGTGGAGGTGTGGAGGTGATAGTGGAGGTGCGGAGGTGATATTGGAG GTGTGGAGGTGATGGTGGAGGTGGGAAGGTGATGGAGGTGGGGAGGTGAT AATGGAAGTATGGAGGTGATTTTGGAGGTGAGGAGGTGATAATGGAGGTA TGGAGGTGATGATGGAGGTGCGGGGGGTGATAGTGGAAGCATGGAGGTGA TGGTGGAGGCGTGGAGGTGATGGCGAAGTTGGAGAAGTGATGATGGAAGT GAGGAGGTGATAGTGGAGGTGTGGGGGTGATGGTGGAGGTGGGGAGGTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03041.hp1 HG03041.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0035 a0001c0002t0003 a0001c0002t0036 a0001c0001t0035 a0001c0002t0003 a0001c0002t0036	a0001c0001t0035g0149 a0001c0002t0003g0007 a0001c0002t0036g0148 a0001c0001t0035g0149 a0001c0002t0003g0007 a0001c0002t0036g0148	3	276	0.0109	298	c.908 others(313): Show c.908+616_908+617insGGTGTGGAGGTGATAGTGGAGGTGCGGAGG TGATATTGGAGGTGTGGAGGTGATGGTGGAGGTGGGAAGGTGATGGAGGT GGGGAGGTGATAATGGAAGTATGGAGGTGATTTTGGAGGTGAGGAGGTGA TAATGGAGGTATGGAGGTGATGATGGAGGTGCGGGGGGTGATAGTGGAAG CATGGAGGTGATGGTGGAGGCGTGGAGGTGATGGCGAAGTTGGAGAAGTG ATGATGGAAGTGAGGAGGTGATAGTGGAGGTGTGGGGGTGATGGTGGAGG TGGGGAGGTTATGGTGGA	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADGRE3_chr19_14614117_14679844	14620403	T T	TATATATG others(291): Show TATATATGTATATTCATGTATATATGAATATATATGTATATTCATGTATA TATGAATATATATGTATATTCATGTATATATGAATATATGTATATTCATG TATATATGAATATATATGTATATTCATGTATATATGAATATATATGTATA TTCATGTATATATGAATATATGTATATTCATGTATATATGAATATATATG TATATTCATGTATATATGAATATATGTATATTCATGTATATATGAATATA TGTATATTCATGTATATATGAATATATATGTATATTCATGTATATATGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	366	0.0027	298	c.192 others(315): Show c.1921-933_1921-932insTCATATATACATGAATATACATATATAT TCATATATACATGAATATACATATATTCATATATACATGAATATACATAT ATTCATATATACATGAATATACATATATATTCATATATACATGAATATAC ATATATTCATATATACATGAATATACATATATATTCATATATACATGAAT ATACATATATATTCATATATACATGAATATACATATATTCATATATACAT GAATATACATATATATTCATATATACATGAATATACATATATATTCATAT ATACATGAATATACATATAT	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	15/15			chr19	TogoVar
AFDN_chr6_167821911_167977023	167976167	C C	CAGGAGGC others(291): Show CAGGAGGCAGTGGGGGTCACTCCCCCTGTAGTGTGTGTGGGGAGGAGGAG GCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTG GGGGTCACTCCCCCTGCAGTGTGTTGGGAGGAGAAGACAGTGGGGGTCAT TCCCCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTG CAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGG GGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0199 a0001c0005t0008g0200 a0001c0005t0008g0199 a0001c0005t0008g0200	2	240	0.0083	298	c.62 others(309): Show c.6232_*6233insAGGAGGCAGTGGGGGTCACTCCCCCTGTAGTGTG TGTGGGGAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGG GAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTTGGGAGGAGAA GACAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGGAGGAGAAGACAGTGG GGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATT CCCCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGC AGTGTGTGGGGAGG	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4145		chr6	TogoVar
AHRR_chr5_316714_443285	344423	A A	ATGTGTGA others(291): Show ATGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTG TGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGG GGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGT GTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTG TGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGT GTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	57	0.0175	298	c.62+ others(311): Show c.62+510_62+511insGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGG CTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGG CTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCG GGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTG TGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGT GTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTG TGTGTGTGAGGCTGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANO2_chr12_5557655_5950259	5660426	T T	TAGAACAC others(291): Show TAGAACACGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCACCACAGCACTCC TGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02572.hp1 others(4): Show HG01884.hp1 HG02109.hp1 HG02572.hp1 HG02622.hp2 HG02965.hp1 HG03516.hp1 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0006 a0002c0019 a0002c0003 a0002c0006 a0002c0019	a0002c0003t0002 a0002c0003t0007 a0002c0006t0001 others(2): Show a0002c0003t0002 a0002c0003t0007 a0002c0006t0001 a0002c0006t0002 a0002c0019t0001	a0002c0003t0002g0141 a0002c0003t0002g0160 a0002c0003t0007g0137 others(4): Show a0002c0003t0002g0141 a0002c0003t0002g0160 a0002c0003t0007g0137 a0002c0003t0007g0142 a0002c0006t0001g0019 a0002c0006t0002g0154 a0002c0019t0001g0023	7	119	0.0588	298	c.154 others(319): Show c.1546-12626_1546-12625insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGTTCTGTCGCCCAGGCAGGAGTGCTGTGGTGCGATCTCCGCT CACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCGGCGTGTTCT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	14/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5660426	T T	TAGAACAC others(291): Show TAGAACACGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCACTCC TGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00639.hp2 others(31): Show HG00140.hp2 HG00408.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp2 HG01168.hp1 HG01346.hp2 HG01884.hp2 HG02055.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02559.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02897.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03491.hp2 HG03704.hp1 NA18993.hp1 NA19030.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0013	a0001c0001 a0001c0002 a0001c0005 others(10): Show a0001c0001 a0001c0002 a0001c0005 a0001c0016 a0001c0020 a0002c0003 a0002c0006 a0003c0004 a0003c0007 a0003c0018 a0005c0010 a0008c0012 a0013c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0005t0001 a0001c0016t0002 a0001c0020t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0008 a0002c0006t0001 a0003c0004t0001 a0003c0004t0002 a0003c0007t0001 a0003c0018t0004 a0005c0010t0003 a0008c0012t0002 a0013c0025t0001	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0057 others(31): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0082 a0001c0001t0001g0116 a0001c0001t0002g0152 a0001c0001t0003g0004 a0001c0001t0004g0100 a0001c0001t0005g0156 a0001c0002t0001g0011 a0001c0002t0001g0043 a0001c0005t0001g0070 a0001c0016t0002g0157 a0001c0020t0001g0007 a0002c0003t0001g0025 a0002c0003t0001g0083 a0002c0003t0001g0097 a0002c0003t0001g0120 a0002c0003t0002g0138 a0002c0003t0002g0147 a0002c0003t0002g0161 a0002c0003t0008g0050 a0002c0006t0001g0099 a0003c0004t0001g0032 a0003c0004t0002g0151 a0003c0007t0001g0037 a0003c0007t0001g0039 a0003c0007t0001g0041 a0003c0007t0001g0042 a0003c0018t0004g0038 a0005c0010t0003g0006 a0008c0012t0002g0146 a0013c0025t0001g0033	34	146	0.2329	298	c.154 others(319): Show c.1546-12626_1546-12625insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGTTCTGTCGCCCAGGCAGGAGTGCTGTGGCGCGATCTCCGCT CACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCGGCGTGTTCT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	14/24			chr12	TogoVar
ANP32E_chr1_150213417_150241112	150227793	T T	TCAAATTT others(291): Show TCAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACAGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACCGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01081.hp2 HG01515.hp2 others(12): Show HG00558.hp2 HG01081.hp2 HG01515.hp2 HG01934.hp1 HG01981.hp1 HG02129.hp2 HG02132.hp1 HG02735.hp2 HG03225.hp1 HG03239.hp1 NA18612.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA20905.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0007 a0002c0001t0001g0104 a0002c0001t0001g0105 others(10): Show a0002c0001t0001g0007 a0002c0001t0001g0104 a0002c0001t0001g0105 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0146 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0163 a0002c0001t0001g0179 a0002c0001t0001g0291	15	221	0.0679	298	c.494 others(313): Show c.494-999_494-998insTTGGGAGGCCGAGGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATATAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCGGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAGAAATTTG	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	4/6			chr1	TogoVar
ARHGEF10_chr8_1818926_1963641	1919932	T T	TATGGGTG others(291): Show TATGGGTGATGGAGCTGTTCTATGGGTGATGGAGCTGTTCTGTGGGTGAT GAGCTGTTCTGTCAGTGATGGAGCTGTTCTGTGGATGATGGAGCTGTTCT ATGGGTGATGGAGCTGTTCCGTGGGTGATGGAGCTGTTCTGTGGGTGATG GAGCTGTTCTGTGGGTGATGGAGCTGTTCTGTGGGTGATGGAGCTGTTCT GTGGGTGATGAGCTGTTCTGTCAGTGATGGAGCTGTTCTGTGGATGATGG AGCTGTTCTATGGGTGATGGGGCTGTTCCATGGGTGATGGAGCTGTTCC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0076 a0002c0076	a0002c0076t0030 a0002c0076t0030	a0002c0076t0030g0091 a0002c0076t0030g0091	1	361	0.0028	298	c.214 others(317): Show c.2144-2830_2144-2829insGGTGATGAGCTGTTCTGTCAGTGATG GAGCTGTTCTGTGGATGATGGAGCTGTTCTATGGGTGATGGGGCTGTTCC ATGGGTGATGGAGCTGTTCCATGGGTGATGGAGCTGTTCTATGGGTGATG GAGCTGTTCTGTGGGTGATGAGCTGTTCTGTCAGTGATGGAGCTGTTCTG TGGATGATGGAGCTGTTCTATGGGTGATGGAGCTGTTCCGTGGGTGATGG AGCTGTTCTGTGGGTGATGGAGCTGTTCTGTGGGTGATGGAGCTGTTCTG TGGGTGATGGAGCTGTTCTGTG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATG5_chr6_106179476_106330760	106251644	A A	AGGGAGGG others(291): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGAGAGA GGGAGGGAGGGAGGGGGAGGGGGAGAGAGGGAGGGAGGGGGAGAGGGAGA GAGGGAGGGGGAGAGGGAGGGAGGGAGAGAGGGAGAGGGAGAGGGAGGGG GAGAGAGGGAGGGAGGGTAAGAGAGGGAGAGAGGGAGGGGGAGAGAGGGA GGGAGGGAGAGAGAGGGAGAGAGGGAGGGGGGAGAAAGGAGGGGGAGGGG GAGAGAGGGAGGGTGGGGGAGGGAGGGAGGGGGAGGGGGGAGGGAGGGG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	310	0.0032	298	c.479 others(315): Show c.479-3401_479-3400insCCCCTCCCTCCCCCCTCCCCCTCCCTCC CTCCCCCACCCTCCCTCTCTCCCCCTCCCCCTCCTTTCTCCCCCCTCCCT CTCTCCCTCTCTCTCCCTCCCTCCCTCTCTCCCCCTCCCTCTCTCCCTCT CTTACCCTCCCTCCCTCTCTCCCCCTCCCTCTCCCTCTCCCTCTCTCCCT CCCTCCCTCTCCCCCTCCCTCTCTCCCTCTCCCCCTCCCTCCCTCTCTCC CCCTCCCCCTCCCTCCCTCCCTCTCTCCCTTCTCCCTCTCTCCGCCTCCC TCCCTCCCTCCCTCCCTCCC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(291): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACC TCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCC ACCTCCCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCC CCCCACCGCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCA CCTCCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACC	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19240.hp2 HG02559.hp2 NA19240.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0009c0038 a0001c0002 a0009c0038	a0001c0002t0036 a0009c0038t0071 a0001c0002t0036 a0009c0038t0071	a0001c0002t0036g0042 a0009c0038t0071g0044 a0001c0002t0036g0042 a0009c0038t0071g0044	2	6	0.3333	298	c.39+ others(315): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCC ACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCC ACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCCC CACCTCCCCCCACCGCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCA CCCCCCACCTCCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCC CCCACCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(291): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCCACCTCCCCCCACCCCCCACCTCCCCCCCACCCCCACCCACCT CCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACC CCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCT ACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCACCCCC CACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0010 a0003c0008t0001g0010	1	5	0.2000	298	c.39+ others(315): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCCACCTCCCCCCACCCCCCACCTCCCCCCCACCCCCA CCCACCTCCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCC ACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCC CACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCC CCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(291): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCCCACCCCCC ACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCT CCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCC CCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTA CCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCACCCCCC CACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0124 a0001c0004t0006g0124	1	5	0.2000	298	c.39+ others(315): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCCC ACCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCA CCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCC CCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCA CCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCC ACCCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCC CCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(291): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCC CCACCTCCCCCACCCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTA CCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCACCCCCC ACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0018 a0001c0001t0019g0018	1	5	0.2000	298	c.39+ others(315): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCAC CCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCC CCACCCCCCACCTCCCCCACCCCCCCACCTCCCCCCACCCCCCACCCCCA CCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCC ACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCC CACCCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(291): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCACCCACCTCCCCCCCACCCCCCACCCACCTCCCCCCACC CCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCT ACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCACCCCC CACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	5	0.2000	298	c.39+ others(315): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCAC CCACCTCCCCCCACCCCCACCCACCTCCCCCCCACCCCCCACCCACCTCC CCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCC ACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCC CACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCC CCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(291): Show TCCCCACCTCCCCCCACCCCCCCCCCCACCTCCCCCACCCCCCCCACCCC CCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCAC CTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCAC CCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCC CTACCCCCACCCCCTACCCCCCCACCCCCCACCTCCCCCCACCCCCCACC CCTACCCCCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0220 a0001c0001t0066g0220	1	5	0.2000	298	c.39+ others(315): Show c.39+32844_39+32845insACCCCCCCCCCCACCTCCCCCACCCCCC CCACCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCC CACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCC CCACCCCCTACCCCCACCCCCTACCCCCCCACCCCCCACCTCCCCCCACC CCCCACCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCC CCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(291): Show TCCCCACCTCCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCC ACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCT CCCCCCACCCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACC CCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCT ACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCACCCCC CACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0182 a0001c0006t0001g0182	1	5	0.2000	298	c.39+ others(315): Show c.39+32844_39+32845insCACCCCCCCCCACCTCCCCCACCCCCCC ACCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCA CCCACCTCCCCCCACCCCCCACCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCC ACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCC CACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCC CCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A3_chr3_194397677_194492002	194421112	G G	GTATATAT others(291): Show GTATATATATATATATATATATATATATATATATATATAGTTTATATATA TATAGTTTATATATATATATACTATATATATAGTTTATATATAAACTATA TATAGTATATATATATACTATATATAGTATATATATATACTATATATAGT ATATATATATACTATATATATAGTATATATATATACTATATATATAGTAT ATATATATACTATATATAGTTTATATATATATACACTATATATAGTTTAT ATATATATACACTATATATAGTTTATATATATATACACTATATATAGTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0185 a0001c0001t0007g0185	1	295	0.0034	298	c.331 others(317): Show c.3314-1146_3314-1145insAACTATATATAGTGTATATATATATA AACTATATATAGTGTATATATATATAAACTATATATAGTGTATATATATA TAAACTATATATAGTATATATATATACTATATATATAGTATATATATATA CTATATATATAGTATATATATATACTATATATAGTATATATATATACTAT ATATAGTATATATATATACTATATATAGTTTATATATAAACTATATATAT AGTATATATATATATAAACTATATATATATAAACTATATATATATATATA TATATATATATATATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATR_chr3_142444235_142583733	142545424	T T	TAAGAAAC others(291): Show TAAGAAACACAAAGGACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTC AGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCT ACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTT GCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0025	1	320	0.0031	298	c.335 others(317): Show c.3357+2300_3357+2301insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCG CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCT CCCAAAGTCCTTTGTGTTTCTT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	16/46			chr3	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(291): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTAT ATATATATATATTATATATATATTTATATATATATATTATATATATATAT ATATTATATATATTTATATATATATATATTATATATATATATATATATAT TATATATATATTTATATATATATATATTATATATATATTTATATATATAT ATTATATATATATTTATATATATATATATTATATATATATTTATATATAT ATATATTATATATATATTTATATATATATATATTATATATATATTTATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0006 a0003c0013t0006	a0003c0013t0006g0058 a0003c0013t0006g0058	1	163	0.0061	298	c.-2- others(315): Show c.-2-22485_-2-22484insTATAAATATATATATAATATATATATAT ATAAATATATATATAATATATATATATATAAATATATATATAATATATAT ATATATAAATATATATATAATATATATATATAAATATATATATAATATAT ATATATATAAATATATATATAATATATATATATATATATATAATATATAT ATATATAAATATATATAATATATATATATATATAATATATATATATAAAT ATATATATAATATATATATATATAAATATATATATTATATATATATATAA ATATATATATAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BCL2_chr18_63118346_63324769	63198864	A A	AAGACACA others(291): Show AAGACACACAGTGACACACAGACACAGAGACACACACACAGACATACACA GACACACACAGACACAGAGACACACACAGACACAGACACACACAGACACA GTGACACACAGACACAGAGACACACACACAGACACACAGTGACACACAGA CACAGAGACACACACACAGACATACACAGACACACACAGACACAGAGACA CACACAGACAGACACAGACACACACAGACACAGTGACACACAGACACAGA GACACACACACAGACACACAGTGACACACAGACACAGAGACACACACAC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0039 a0001c0004t0002g0039	1	146	0.0068	298	c.586 others(317): Show c.586-70106_586-70105insGTGTGTGTGTCTCTGTGTCTGTGTGT CACTGTGTGTCTGTGTGTGTGTCTCTGTGTCTGTGTGTCACTGTGTCTGT GTGTGTCTGTGTCTGTCTGTGTGTGTCTCTGTGTCTGTGTGTGTCTGTGT ATGTCTGTGTGTGTGTCTCTGTGTCTGTGTGTCACTGTGTGTCTGTGTGT GTGTCTCTGTGTCTGTGTGTCACTGTGTCTGTGTGTGTCTGTGTCTGTGT GTGTCTCTGTGTCTGTGTGTGTCTGTGTATGTCTGTGTGTGTGTCTCTGT GTCTGTGTGTCACTGTGTGTCT	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63198864	A A	AAGACACA others(291): Show AAGACACACAGTGACACACAGACACAGAGACACACACACAGACATACACA GACACACACAGACACAGAGACACACACAGACAGACACAGACACACACAGA CACAGTGACACACAGACACAGAGACACACACACAGACACACAGTGACACA CAGACACAGAGACACACACACAGACATACACAGACACACACAGACACAGA GACACACACAGACACAGACACACACAGACACAGTGACACACAGACACAGA GACACACACACAGACACACAGTGACACACAGACACAGAGACACACACAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	146	0.0068	298	c.586 others(317): Show c.586-70106_586-70105insGTGTGTGTGTCTCTGTGTCTGTGTGT CACTGTGTGTCTGTGTGTGTGTCTCTGTGTCTGTGTGTCACTGTGTCTGT GTGTGTCTGTGTCTGTGTGTGTCTCTGTGTCTGTGTGTGTCTGTGTATGT CTGTGTGTGTGTCTCTGTGTCTGTGTGTCACTGTGTGTCTGTGTGTGTGT CTCTGTGTCTGTGTGTCACTGTGTCTGTGTGTGTCTGTGTCTGTCTGTGT GTGTCTCTGTGTCTGTGTGTGTCTGTGTATGTCTGTGTGTGTGTCTCTGT GTCTGTGTGTCACTGTGTGTCT	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63198864	A A	AAGACACA others(291): Show AAGACACACAGTGACACACAGACACAGAGACACACACAGACATACACAGA CACACACAGACACAGAGACACACACAGACAGACACAGACACACACAGACA CAGTGACACACAGACACAGAGACACACACACAGACACACAGTGACACACA GACACAGAGACACACACACAGACATACACAGACACACACAGACACAGAGA CACACAGACAGACACAGACACACACAGACACAGTGACACACAGACACAGA GACACACACACAGACACACAGTGACACACAGACACAGAGACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp2 HG02145.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0059 a0001c0001t0007 a0001c0001t0059	a0001c0001t0007g0166 a0001c0001t0059g0256 a0001c0001t0007g0166 a0001c0001t0059g0256	2	147	0.0136	298	c.586 others(317): Show c.586-70106_586-70105insGTGTGTGTGTCTCTGTGTCTGTGTGT CACTGTGTGTCTGTGTGTGTGTCTCTGTGTCTGTGTGTCACTGTGTCTGT GTGTGTCTGTGTCTGTCTGTGTGTCTCTGTGTCTGTGTGTGTCTGTGTAT GTCTGTGTGTGTGTCTCTGTGTCTGTGTGTCACTGTGTGTCTGTGTGTGT GTCTCTGTGTCTGTGTGTCACTGTGTCTGTGTGTGTCTGTGTCTGTCTGT GTGTGTCTCTGTGTCTGTGTGTGTCTGTGTATGTCTGTGTGTGTCTCTGT GTCTGTGTGTCACTGTGTGTCT	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BOC_chr3_113206557_113292459	113236284	A A	ATATATAT others(291): Show ATATATATATATATATATATATATATATACCCATGGGTATATATATATAT ATATATATATATATATACCCATGGGTATATATATATATATATATATATAT ATATATACCCATGGGTATATATATATATATATATATATATATATATACCC ATGGGTATATATATATATATATATATATATATATACCCATGGGTATATAT ATATATATATATATATATATACCCATGGGTATATATATATATATATATAT ATATATATACCCATGGGTATATATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0081 a0001c0005t0008g0081	1	328	0.0030	298	c.-81 others(317): Show c.-81-13403_-81-13402insGTATATATATATATATATATATATAT ATATACCCATGGGTATATATATATATATATATATATATATATATACCCAT GGGTATATATATATATATATATATATATATATATACCCATGGGTATATAT ATATATATATATATATATATATACCCATGGGTATATATATATATATATAT ATATATATACCCATGGGTATATATATATATATATATATATATATATACCC ATGGGTATATATATATATATATATATATACCCATGGGTATATATATATAT ATATATATATATATACCCATGG	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BTD_chr3_15596745_15658714	15597657	T T	TGGATCAT others(291): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0234 a0001c0002t0003g0234	1	312	0.0032	298	c.-42 others(309): Show c.-4254_-4253insGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGC	BTD	ENSG00000169814.17	transcript	ENST00000643237.3	protein_coding		4087		chr3	TogoVar
BTNL9_chr5_181035266_181066521	181045978	T T	TCCAACAC others(291): Show TCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCAT CTCCCCAGCCTGTAGTGTTCCTCCACCATCTCCCCAGCCCCCAACACCTC CTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCC CCAACACCTCCTCCACCATCTCCCCAGCCTCCAACACCTCCTCCACCATC TCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTC CTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCACCATCTCCCCAGCCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0006 a0003c0011t0006	a0003c0011t0006g0142 a0003c0011t0006g0142	1	43	0.0233	298	c.109 others(313): Show c.109+670_109+671insCCCAGCCCCCAACACCTCCTCCACCATCTC CCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTC CACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCA ACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCC CCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTC CACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTGTA GTGTTCCTCCACCATCTC	BTNL9	ENSG00000165810.17	transcript	ENST00000327705.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
C20orf96_chr20_265863_295750	278938	G G	GGGAGGGG others(291): Show GGGAGGGGCGGAGGAGGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGG AGGGCGGGACGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGAC GGAGGGAGGGAGGGAGGGCGGGAGGGGCGGGACGGAGGGAGGGAGGGACG GAGGGCGGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGA GGGGCGGGAGGGCGGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGCGGGAGGGAGGGAGGGAGGGAGGGAGGGCGGGAC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0109 a0001c0005t0001g0109	1	401	0.0025	298	c.465 others(313): Show c.465+233_465+234insGTCCCGCCCTCCCTCCCTCCCTCCCTCCCT CCCGCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC GTCCCCGCCCTCCCGCCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCC CTCCCTCCCTCCCGCCCTCCGTCCCTCCCTCCCTCCGTCCCGCCCCTCCC GCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTC CCGCCCTCCGTCCCGCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCC TCCCTCCTCCGCCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C22orf42_chr22_32144006_32164303	32145735	T T	TTATTATA others(291): Show TTATTATATAATGATATATAATTTATTATATAATGATATATAATTTATTA TATAATGATATATAATTTATTATATAATGATATATAATTTATTATATAAT GATATATAATTTATTATATTATATAATGATATATAATTTATTATGCCAAT ATAATATATTAATATAATTATATATTATATATTATATTATATAATATATT AATATAATTATATATTATATATTATATTATATAATATATTAATATAATTA TATATTATATATTATATTATATAATATATTAATATAATTATATATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	392	0.0026	298	c.38 others(309): Show c.3804_*3805insTATAATATATAATTATATTAATATATTATATAAT ATAATATATAATATATAATTATATTAATATATTATATAATATAATATATA ATATATAATTATATTAATATATTATATAATATAATATATAATATATAATT ATATTAATATATTATATTGGCATAATAAATTATATATCATTATATAATAT AATAAATTATATATCATTATATAATAAATTATATATCATTATATAATAAA TTATATATCATTATATAATAAATTATATATCATTATATAATAAATTATAT ATCATTATATAATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3270		chr22	TogoVar
C9_chr5_39279140_39369495	39336848	T T	TGGTGGCT others(291): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGG ATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCC GTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	392	0.0026	298	c.476 others(315): Show c.476+4297_476+4298insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACC	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	4/10			chr5	TogoVar
CABLES1_chr18_23130485_23265470	23174474	T T	TAAAACTT others(291): Show TAAAACTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0270 a0001c0001t0013g0270	1	273	0.0037	298	c.846 others(317): Show c.846-14349_846-14348insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGAAAACTTTTTTTTTT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(291): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01981.hp2 HG02055.hp2 HG01517.hp1 HG01981.hp2 HG02055.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0004 a0002c0003t0001 a0002c0003t0004	a0002c0003t0001g0027 a0002c0003t0001g0045 a0002c0003t0004g0040 a0002c0003t0001g0027 a0002c0003t0001g0045 a0002c0003t0004g0040	3	64	0.0469	298	c.100 others(317): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CAMK1D_chr10_12344547_12840545	12623378	T T	TCCCTCCT others(291): Show TCCCTCCTTTCTTTCCTTCCTCCCTCCCTCCGTCCCTCCCTTCCTCCCTC CCTTCTTTCCTTCCTTCCTCCCTCCCTCTCTCCCTCCCTCCTTCCTCCCT TCCTTCTTTCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCCTTC TTTCCCTCCTCCCTCCCTCTCTCCCTCCCTCCCTTCCTCCCTCCCTCTCT CCCTCCCTCCCTTCCTCCCTCCCTCTCTCCCTCCCTCCCTTCCTCCCTCC CTCTCTCCCTCCCTCCCTTCCTCCCTCCCTCTCTCCCTCCCTCCCTTCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp1 HG02559.hp2 others(2): Show HG01109.hp2 HG02257.hp1 HG02559.hp2 HG03130.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0019 a0001c0001t0020 others(2): Show a0001c0001t0002 a0001c0001t0019 a0001c0001t0020 a0001c0001t0102 a0001c0002t0010	a0001c0001t0002g0041 a0001c0001t0019g0039 a0001c0001t0020g0031 others(2): Show a0001c0001t0002g0041 a0001c0001t0019g0039 a0001c0001t0020g0031 a0001c0001t0102g0010 a0001c0002t0010g0007	5	191	0.0262	298	c.225 others(317): Show c.225-43358_225-43357insCCCTCCTTTCTTTCCTTCCTCCCTCC CTCCGTCCCTCCCTTCCTCCCTCCCTTCTTTCCTTCCTTCCTCCCTCCCT CTCTCCCTCCCTCCTTCCTCCCTTCCTTCTTTCCTTCCTCCCTCCCTCCG TCCCTCCCTCCCTCCCTCCCTTCTTTCCCTCCTCCCTCCCTCTCTCCCTC CCTCCCTTCCTCCCTCCCTCTCTCCCTCCCTCCCTTCCTCCCTCCCTCTC TCCCTCCCTCCCTTCCTCCCTCCCTCTCTCCCTCCCTCCCTTCCTCCCTC CCTCTCTCCCTCCCTCCCTTCC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10			chr10	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGAAGGG others(291): Show GGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGA GGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGG GGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGA GGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGG GGGAAGGGGAGGGGAGTGGGGGAGGGGAGTGGGGACGGGAGTGGGGGGAA GGGGAGGGGAGTGGGGGGAGGGGGGCAGGGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	66	0.0152	298	c.104 others(317): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(291): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGA GGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGG GGGAAGGGGAGGGGAGTGGGGGAGGGGAGTGGGGACGGGAGTGGGGGGAA GGGGAGGGGAGTGGGGGGAGGGGGGCAGGGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp2 NA19091.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0175 a0001c0001t0001g0091 a0001c0001t0001g0175	2	67	0.0299	298	c.104 others(317): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCCCCACTCCCCTCCCCTTCCCCCCACTCC CCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTC CCCCCACTCCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAPN15_chr16_522712_559636	544707	C C	CCGTCTCC others(291): Show CCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGTCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGTCTCCCCCACGTCGCCTCCCCCACGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0004 a0001c0072t0004	a0001c0072t0004g0394 a0001c0072t0004g0394	1	404	0.0025	298	c.-22 others(315): Show c.-22-2109_-22-2108insGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGTCTCCC CCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544729	A A	ACGTCGCC others(291): Show ACGTCGCCGTCTCCCCCACGTCGCCTCCCCACGTCGCCTCCCCCACGTCG TCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	356	0.0028	298	c.-22 others(315): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCACGTCG CCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTC CCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(291): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTC CCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	18	0.0556	298	c.-22 others(309): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGAAGGGGAGGGGAGGGGAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC63_chr12_110841987_110912535	110905890	A A	ATTATATA others(291): Show ATTATATATAATATATATTATATTATATATAATATATATTATATATAATA TATATTATATATAATATATATTATATTATATAATATATATTATATATAAT ATATATTATATATAATATATATTATATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTATATTATATATAAAATATTATATA AAATATATATTATATTATATATAATATATATTATATAAAATATATATTAT ATTATATATAATATATATTATATAAAATATATATTATATTATATAATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0208 a0002c0003t0002g0208	1	278	0.0036	298	c.154 others(317): Show c.1546+1099_1546+1100insTTATATATAATATATATTATATTATA TATAATATATATTATATATAATATATATTATATATAATATATATTATATT ATATAATATATATTATATATAATATATATTATATATAATATATATTATAT ATAATATATATTATATAAAATATATATTATATTATATATAATATATATTA TATTATATATAAAATATTATATAAAATATATATTATATTATATATAATAT ATATTATATAAAATATATATTATATTATATATAATATATATTATATAAAA TATATATTATATTATATAATAT	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11			chr12	TogoVar
CCDC77_chr12_396644_447642	419412	T T	TTCCATTA others(291): Show TTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA ACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAAATACACACATAGCAGCACACTCCATG CTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA ATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp2 NA19043.hp1 HG02109.hp2 HG02559.hp2 NA19043.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0322 a0002c0002t0001g0385 a0004c0004t0001g0085 a0002c0002t0001g0322 a0002c0002t0001g0385 a0004c0004t0001g0085	3	424	0.0071	298	c.413 others(313): Show c.413+789_413+790insGCTTCTGTGTGTGTGTGCTGGGAGTGAGAG GGTAAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCT GTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACACATAGCAGCACAC TCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAG GGTAAAATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCT GTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTC CATGCTCCATTACAGTGC	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(291): Show GGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTT CCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC GGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCT CGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTT CCTGCCCCCTCGCCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0020 a0003c0013t0001g0020	1	106	0.0094	298	c.411 others(315): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAG GAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGC GAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGC CGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAG GAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGC GAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(291): Show GGCCCACCTTCCTGTCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCT CGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTT CCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC GGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCT CGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTT CCTGCCCCCTCGCCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0009 a0009	a0009c0026 a0009c0026	a0009c0026t0001 a0009c0026t0001	a0009c0026t0001g0145 a0009c0026t0001g0145	1	106	0.0094	298	c.411 others(315): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAG GAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGC GAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGC CGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAG GAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGC GAGGGGACAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(291): Show GGCCCACCTTCCTGTCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCT CGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTT CCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC GGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCT CGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTT CCTGCCCCCTCGCCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	106	0.0094	298	c.411 others(315): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAG GAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGC GAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGC CGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAG GAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGC GAGGGGACAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCKAR_chr4_26476396_26495484	26484866	A A	ACCCAATC others(291): Show ACCCAATCTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03471.hp2 HG02897.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0095 a0001c0001t0011g0073 a0001c0001t0001g0095 a0001c0001t0011g0073	2	346	0.0058	298	c.626 others(313): Show c.626+770_626+771insCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAATAGAGATTGGG	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding	3/4			chr4	TogoVar

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