Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PCCA_chr13_100084093_100535435	100422070	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG01071.hp2 others(9): Show HG00597.hp1 HG00597.hp2 HG01071.hp2 HG01099.hp2 HG01358.hp1 HG03540.hp1 NA18959.hp1 NA18968.hp1 NA18969.hp1 NA19004.hp1 NA19081.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0031 others(9): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0070 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0173 a0001c0002t0001g0086 a0001c0002t0001g0095 a0002c0003t0001g0118	12	174	0.0690	15	c.174 others(34): Show c.1747-3561_1747-3560insCTTTCTTTCTTTCTT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100509826	T T	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG01074.hp1 others(27): Show HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp2 HG02055.hp1 HG02486.hp2 HG02615.hp2 HG02886.hp1 HG02965.hp1 HG03041.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG04184.hp1 NA18522.hp2 NA18989.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0001c0001t0001 a0001c0002t0001 a0001c0010t0001	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 others(27): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0002t0001g0073 a0001c0002t0001g0078 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0093 a0001c0002t0001g0108 a0001c0010t0001g0060	30	174	0.1724	15	c.190 others(34): Show c.1900-5581_1900-5567dupGTTTTGTTTTGTTTT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCDH10_chr4_133144294_133199700	133199289	A A	AAATAATA others(8): Show AAATAATAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	382	0.0026	15	c.91 others(26): Show c.9129_*9130insAATAATAATAATAAT	PCDH10	ENSG00000138650.9	transcript	ENST00000264360.7	protein_coding		4590		chr4	TogoVar
PCDH11X_chrX_91774375_92628230	92009700	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp2 HG03041.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0154 a0001c0001t0006g0053 a0001c0001t0002g0154 a0001c0001t0006g0053	2	154	0.0130	15	c.303 others(38): Show c.3033+130434_3033+130448dupTTTTTTTTTTTTTTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92147790	T T	TTCTTTCT others(8): Show TTCTTTCTTTTCTTCC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	154	0.0065	15	c.303 others(36): Show c.3034-53584_3034-53583insCTTTCTTTTCTTCCT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92148105	T T	TTTCCTTC others(8): Show TTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	154	0.0065	15	c.303 others(36): Show c.3034-53270_3034-53269insTTCCTTCCTTCCTTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10			chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92278806	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03130.hp1 NA18943.hp1 others(1): Show HG02809.hp2 HG03130.hp1 NA18943.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0001g0066 a0001c0001t0002g0048 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0066 a0001c0001t0002g0048 a0001c0001t0002g0076	4	154	0.0260	15	c.314 others(36): Show c.3144+15671_3144+15685dupTTTTTTTTTTTTTTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92331279	T T	TTTCTTCT others(8): Show TTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0149 a0001c0001t0020g0149	1	154	0.0065	15	c.314 others(36): Show c.3145-56431_3145-56417dupTTCTTCTTCTTCTTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92355417	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03130.hp1 NA18968.hp1 HG01243.hp1 HG03130.hp1 NA18968.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0009 a0001c0001t0002 a0002c0004t0009	a0001c0001t0002g0057 a0001c0001t0002g0076 a0002c0004t0009g0040 a0001c0001t0002g0057 a0001c0001t0002g0076 a0002c0004t0009g0040	3	154	0.0195	15	c.314 others(36): Show c.3145-32301_3145-32287dupAAAAAAAAAAAAAAA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92375166	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03579.hp1 HG04228.hp1 others(3): Show HG01192.hp1 HG03579.hp1 HG04228.hp1 HG06807.hp1 NA18949.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001	a0001c0001t0003g0100 a0001c0001t0004g0063 a0001c0001t0004g0112 others(3): Show a0001c0001t0003g0100 a0001c0001t0004g0063 a0001c0001t0004g0112 a0001c0001t0007g0122 a0001c0001t0008g0148 a0001c0002t0001g0005	6	154	0.0390	15	c.314 others(36): Show c.3145-12568_3145-12567insATATATATATATTTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92375166	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0137 a0001c0001t0004g0137	1	154	0.0065	15	c.314 others(36): Show c.3145-12568_3145-12567insATATATATATTTTTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92375166	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01243.hp1 NA21309.hp1 HG00642.hp1 HG01243.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0001g0107 a0001c0001t0002g0057 a0001c0001t0001g0015 a0001c0001t0001g0107 a0001c0001t0002g0057	3	154	0.0195	15	c.314 others(36): Show c.3145-12568_3145-12567insATATATATTTTTTTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92375167	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02698.hp1 HG01496.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0140 a0001c0001t0002g0130 a0001c0001t0001g0140 a0001c0001t0002g0130	2	154	0.0130	15	c.314 others(36): Show c.3145-12568_3145-12567insATATATATATATATA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10			chrX	TogoVar
PCDH11Y_chrY_4995296_5747224	5160038	T T	TATATAAT others(8): Show TATATAATATAATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02071.hp1 HG02132.hp1 others(5): Show HG02056.hp1 HG02071.hp1 HG02132.hp1 HG02135.hp1 HG02486.hp1 HG02895.hp1 HG03139.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0001g0038 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0062 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0006t0001g0002	8	115	0.0696	15	c.285 others(36): Show c.2853+59362_2853+59376dupATATAATATAATATA	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH15_chr10_53797771_54806231	53871722	C C	CTTGTTTT others(8): Show CTTGTTTTGTTTTGTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0012 a0010c0009t0012	a0010c0009t0012g0042 a0010c0009t0012g0042	1	102	0.0098	15	c.350 others(34): Show c.3502-4880_3502-4866dupAACAAAACAAAACAA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	26/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	53888702	T T	TATATATA others(8): Show TATATATATATATAAA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0050 a0006c0006t0002g0050	1	102	0.0098	15	c.350 others(36): Show c.3501+14540_3501+14541insTTTATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	26/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	53888702	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02486.hp1 HG02622.hp1 others(3): Show HG01981.hp1 HG02486.hp1 HG02622.hp1 HG03540.hp1 HG03710.hp1 HG03942.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0009 a0025	a0001c0001 a0002c0021 a0003c0003 others(3): Show a0001c0001 a0002c0021 a0003c0003 a0007c0007 a0009c0008 a0025c0030	a0001c0001t0003 a0002c0021t0021 a0003c0003t0019 others(3): Show a0001c0001t0003 a0002c0021t0021 a0003c0003t0019 a0007c0007t0022 a0009c0008t0002 a0025c0030t0018	a0001c0001t0003g0010 a0002c0021t0021g0047 a0003c0003t0019g0060 others(3): Show a0001c0001t0003g0010 a0002c0021t0021g0047 a0003c0003t0019g0060 a0007c0007t0022g0075 a0009c0008t0002g0049 a0025c0030t0018g0007	6	102	0.0588	15	c.350 others(36): Show c.3501+14540_3501+14541insTATATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	26/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54004426	C C	CACACACA others(8): Show CACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp1 HG02258.hp1 HG02615.hp1	a0002 a0036 a0002 a0036	a0002c0002 a0036c0019 a0002c0002 a0036c0019	a0002c0002t0005 a0036c0019t0015 a0002c0002t0005 a0036c0019t0015	a0002c0002t0005g0016 a0036c0019t0015g0001 a0002c0002t0005g0016 a0036c0019t0015g0001	2	102	0.0196	15	c.275 others(34): Show c.2752-8662_2752-8661insTGTGTGTGTGTGTGT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	20/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54099513	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0036 a0005c0005t0005g0036	1	102	0.0098	15	c.191 others(34): Show c.1918-9451_1918-9450insATATATATTTTTTTT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	15/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54146906	A A	AGTGTATA others(8): Show AGTGTATATATATAGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01175.hp2 HG02965.hp1 others(3): Show HG01167.hp2 HG01175.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03486.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0003 a0002c0002t0009 a0004c0004t0005 others(1): Show a0001c0001t0003 a0002c0002t0009 a0004c0004t0005 a0004c0004t0025	a0001c0001t0003g0098 a0002c0002t0009g0027 a0004c0004t0005g0024 others(3): Show a0001c0001t0003g0098 a0002c0002t0009g0027 a0004c0004t0005g0024 a0004c0004t0005g0025 a0004c0004t0005g0057 a0004c0004t0025g0032	6	102	0.0588	15	c.178 others(34): Show c.1784+6179_1784+6193dupACTATATATATACAC	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	14/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54199564	C C	CAATAATA others(8): Show CAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG03139.hp2 HG02109.hp1 HG02145.hp1 HG03139.hp2	a0003 a0007 a0037 a0003 a0007 a0037	a0003c0003 a0007c0007 a0037c0018 a0003c0003 a0007c0007 a0037c0018	a0003c0003t0009 a0007c0007t0003 a0037c0018t0001 a0003c0003t0009 a0007c0007t0003 a0037c0018t0001	a0003c0003t0009g0018 a0007c0007t0003g0065 a0037c0018t0001g0004 a0003c0003t0009g0018 a0007c0007t0003g0065 a0037c0018t0001g0004	3	102	0.0294	15	c.109 others(34): Show c.1099-3676_1099-3675insATTATTATTATTATT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	10/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54199567	C C	CAATAATA others(8): Show CAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0021 a0021	a0021c0026 a0021c0026	a0021c0026t0008 a0021c0026t0008	a0021c0026t0008g0081 a0021c0026t0008g0081	1	102	0.0098	15	c.109 others(34): Show c.1099-3679_1099-3678insATTATTATTATTATT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	10/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54199570	C C	CAACAATA others(8): Show CAACAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	102	0.0098	15	c.109 others(34): Show c.1099-3682_1099-3681insATTATTATTATTGTT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	10/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54199570	C C	CAATAATA others(8): Show CAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0091 a0008c0010t0001g0091	1	102	0.0098	15	c.109 others(34): Show c.1099-3696_1099-3682dupATTATTATTATTATT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	10/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54462476	C C	CTTTCTTT others(8): Show CTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19240.hp2 HG02615.hp1 NA19240.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0005 a0003c0003t0004 a0002c0002t0005 a0003c0003t0004	a0002c0002t0005g0016 a0003c0003t0004g0005 a0002c0002t0005g0016 a0003c0003t0004g0005	2	102	0.0196	15	c.157 others(34): Show c.157+65321_157+65335dupAGAAAAGAAAAGAAA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	3/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54804927	T T	TATATATA others(8): Show TATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0028 a0012c0016t0001g0028	1	102	0.0098	15	c.-40 others(26): Show c.-4032_-4031insTATATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding		3697		chr10	TogoVar
PCDH15_chr10_53816099_54806231	53871722	C C	CTTGTTTT others(8): Show CTTGTTTTGTTTTGTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0027 a0027	a0027c0027 a0027c0027	a0027c0027t0008 a0027c0027t0008	a0027c0027t0008g0039 a0027c0027t0008g0039	1	94	0.0106	15	c.350 others(34): Show c.3502-4880_3502-4866dupAACAAAACAAAACAA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	26/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53888702	T T	TATATATA others(8): Show TATATATATATATAAA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0006 a0006	a0006c0042 a0006c0042	a0006c0042t0001 a0006c0042t0001	a0006c0042t0001g0047 a0006c0042t0001g0047	1	94	0.0106	15	c.350 others(36): Show c.3501+14540_3501+14541insTTTATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	26/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53888702	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02486.hp1 HG02622.hp2 others(3): Show HG01981.hp1 HG02486.hp1 HG02622.hp2 HG03540.hp1 HG03710.hp2 HG03942.hp1	a0001 a0007 a0009 others(3): Show a0001 a0007 a0009 a0021 a0026 a0030	a0001c0001 a0007c0018 a0009c0014 others(3): Show a0001c0001 a0007c0018 a0009c0014 a0021c0038 a0026c0026 a0030c0028	a0001c0001t0001 a0007c0018t0001 a0009c0014t0001 others(3): Show a0001c0001t0001 a0007c0018t0001 a0009c0014t0001 a0021c0038t0004 a0026c0026t0001 a0030c0028t0001	a0001c0001t0001g0010 a0007c0018t0001g0046 a0009c0014t0001g0069 others(3): Show a0001c0001t0001g0010 a0007c0018t0001g0046 a0009c0014t0001g0069 a0021c0038t0004g0007 a0026c0026t0001g0056 a0030c0028t0001g0044	6	94	0.0638	15	c.350 others(36): Show c.3501+14540_3501+14541insTATATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	26/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54004426	C C	CACACACA others(8): Show CACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp1 HG02258.hp1 HG02615.hp1	a0002 a0032 a0002 a0032	a0002c0006 a0032c0023 a0002c0006 a0032c0023	a0002c0006t0001 a0032c0023t0006 a0002c0006t0001 a0032c0023t0006	a0002c0006t0001g0016 a0032c0023t0006g0001 a0002c0006t0001g0016 a0032c0023t0006g0001	2	94	0.0213	15	c.275 others(34): Show c.2752-8662_2752-8661insTGTGTGTGTGTGTGT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	20/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54099513	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0033 a0005c0009t0001g0033	1	94	0.0106	15	c.191 others(34): Show c.1918-9451_1918-9450insATATATATTTTTTTT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	15/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54146906	A A	AGTGTATA others(8): Show AGTGTATATATATAGT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02965.hp2 HG03041.hp1 others(2): Show HG01175.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03486.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0007 a0002c0029 a0004c0004 a0001c0007 a0002c0029 a0004c0004	a0001c0007t0001 a0002c0029t0001 a0004c0004t0001 others(1): Show a0001c0007t0001 a0002c0029t0001 a0004c0004t0001 a0004c0004t0005	a0001c0007t0001g0090 a0002c0029t0001g0024 a0004c0004t0001g0022 others(2): Show a0001c0007t0001g0090 a0002c0029t0001g0024 a0004c0004t0001g0022 a0004c0004t0001g0048 a0004c0004t0005g0029	5	94	0.0532	15	c.178 others(34): Show c.1784+6179_1784+6193dupACTATATATATACAC	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	14/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54199564	C C	CAATAATA others(8): Show CAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03139.hp2 HG02145.hp2 HG03139.hp2	a0003 a0033 a0003 a0033	a0003c0025 a0033c0022 a0003c0025 a0033c0022	a0003c0025t0001 a0033c0022t0001 a0003c0025t0001 a0033c0022t0001	a0003c0025t0001g0018 a0033c0022t0001g0004 a0003c0025t0001g0018 a0033c0022t0001g0004	2	94	0.0213	15	c.109 others(34): Show c.1099-3676_1099-3675insATTATTATTATTATT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	10/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54199567	C C	CAATAATA others(8): Show CAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0017 a0017	a0017c0033 a0017c0033	a0017c0033t0001 a0017c0033t0001	a0017c0033t0001g0073 a0017c0033t0001g0073	1	94	0.0106	15	c.109 others(34): Show c.1099-3679_1099-3678insATTATTATTATTATT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	10/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54199570	C C	CAATAATA others(8): Show CAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	94	0.0106	15	c.109 others(34): Show c.1099-3696_1099-3682dupATTATTATTATTATT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	10/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54462476	C C	CTTTCTTT others(8): Show CTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19240.hp2 HG02615.hp1 NA19240.hp2	a0002 a0003 a0002 a0003	a0002c0006 a0003c0003 a0002c0006 a0003c0003	a0002c0006t0001 a0003c0003t0002 a0002c0006t0001 a0003c0003t0002	a0002c0006t0001g0016 a0003c0003t0002g0005 a0002c0006t0001g0016 a0003c0003t0002g0005	2	94	0.0213	15	c.157 others(34): Show c.157+65321_157+65335dupAGAAAAGAAAAGAAA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	3/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54804927	T T	TATATATA others(8): Show TATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0001 a0012c0020t0001	a0012c0020t0001g0025 a0012c0020t0001g0025	1	94	0.0106	15	c.-40 others(26): Show c.-4032_-4031insTATATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding		3697		chr10	TogoVar
PCDH17_chr13_57626744_57734311	57658764	G G	GTTTGTTT others(8): Show GTTTGTTTTGTTTTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01081.hp2 HG01099.hp2 others(35): Show HG00323.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01257.hp2 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02738.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03834.hp1 NA18522.hp1 NA18940.hp2 NA18948.hp1 NA18965.hp1 NA18968.hp2 NA18984.hp2 NA19007.hp2 NA19030.hp2 NA19062.hp1 NA19088.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0020 a0001c0001t0040 a0001c0001t0050 a0001c0001t0051 a0001c0006t0003	a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0119 others(35): Show a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0146 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0112 a0001c0001t0002g0120 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0003g0246 a0001c0001t0004g0111 a0001c0001t0004g0136 a0001c0001t0004g0148 a0001c0001t0004g0303 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0126 a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0133 a0001c0001t0005g0147 a0001c0001t0006g0105 a0001c0001t0006g0125 a0001c0001t0007g0116 a0001c0001t0007g0121 a0001c0001t0020g0108 a0001c0001t0040g0109 a0001c0001t0050g0104 a0001c0001t0051g0113 a0001c0006t0003g0114	38	310	0.1226	15	c.256 others(34): Show c.2566-7684_2566-7670dupTTTTGTTTTGTTTTG	PCDH17	ENSG00000118946.12	transcript	ENST00000377918.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCDH18_chr4_137513918_137537494	137517489	A A	ATTTATTT others(8): Show ATTTATTTTATTTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01167.hp1 HG01168.hp1 others(5): Show HG00558.hp2 HG01167.hp1 HG01168.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 NA18965.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0002t0001g0001 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0086	8	406	0.0197	15	c.35 others(26): Show c.3539_*3540insATAAAATAAAATAAA	PCDH18	ENSG00000189184.12	transcript	ENST00000344876.9	protein_coding		1428		chr4	TogoVar
PCDH18_chr4_137513918_137537494	137517489	A A	ATTTGATT others(8): Show ATTTGATTTATTTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG03453.hp1 NA19240.hp1 HG02965.hp1 HG03453.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0016 a0001c0001t0013g0016	3	406	0.0074	15	c.35 others(26): Show c.3539_*3540insATAAAATAAATCAAA	PCDH18	ENSG00000189184.12	transcript	ENST00000344876.9	protein_coding		1428		chr4	TogoVar
PCDH19_chrX_100286644_100415273	100309181	C C	CACACACA others(8): Show CACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0076 a0002c0005t0003g0076	1	281	0.0036	15	c.284 others(36): Show c.2849-12307_2849-12306insTGTGTGTGTGTGTGT	PCDH19	ENSG00000165194.15	transcript	ENST00000373034.8	protein_coding	5/5			chrX	TogoVar
PCDH19_chrX_100286644_100415273	100322865	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0149 a0001c0004t0004g0149	1	281	0.0036	15	c.284 others(36): Show c.2848+19037_2848+19038insAAAAAAATATATATA	PCDH19	ENSG00000165194.15	transcript	ENST00000373034.8	protein_coding	5/5			chrX	TogoVar
PCDH19_chrX_100286644_100415273	100322865	A A	ATATATAT others(8): Show ATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0038 a0001c0004t0038	a0001c0004t0038g0146 a0001c0004t0038g0146	1	281	0.0036	15	c.284 others(36): Show c.2848+19037_2848+19038insAAAAAAAAATATATA	PCDH19	ENSG00000165194.15	transcript	ENST00000373034.8	protein_coding	5/5			chrX	TogoVar
PCDH19_chrX_100286644_100415273	100333174	G G	GAGAGAGA others(8): Show GAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0010 a0001c0006t0009g0010	1	281	0.0036	15	c.284 others(34): Show c.2848+8728_2848+8729insTCTCTCTCTCTCTCT	PCDH19	ENSG00000165194.15	transcript	ENST00000373034.8	protein_coding	5/5			chrX	TogoVar
PCDH19_chrX_100286644_100415273	100393536	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	281	0.0036	15	c.261 others(34): Show c.2616+8987_2616+8988insGTGTGTGTGTGTGTG	PCDH19	ENSG00000165194.15	transcript	ENST00000373034.8	protein_coding	3/5			chrX	TogoVar
PCDH7_chr4_30715369_31151800	30716893	A A	AAGCAGCA others(8): Show AAGCAGCAGCAGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	214	0.0047	15	c.-45 others(26): Show c.-4530_-4529insAGCAGCAGCAGCAGC	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding		3475		chr4	TogoVar
PCDH7_chr4_30715369_31151800	30889137	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01081.hp1 HG01099.hp2 others(11): Show HG00673.hp1 HG01081.hp1 HG01099.hp2 HG01192.hp1 HG02109.hp1 HG02647.hp2 HG03139.hp1 HG03139.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18968.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0041 a0001c0001t0042 a0001c0002t0001 a0001c0002t0004 a0001c0004t0001 a0001c0004t0007 a0001c0011t0045	a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0093 others(11): Show a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0093 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0011g0181 a0001c0001t0011g0186 a0001c0001t0041g0110 a0001c0001t0042g0117 a0001c0002t0001g0127 a0001c0002t0004g0132 a0001c0004t0001g0015 a0001c0004t0007g0021 a0001c0011t0045g0214	14	214	0.0654	15	c.317 others(36): Show c.3175-31011_3175-30997dupAAAAAAAAAAAAAAA	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	30896889	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0123 a0001c0002t0004g0123	1	214	0.0047	15	c.317 others(36): Show c.3175-23245_3175-23231dupTTTTTTTTTTTTTTT	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	30974246	C C	CTTCCTTT others(8): Show CTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01891.hp1 HG01891.hp2 others(5): Show HG00738.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02717.hp1 NA18906.hp1 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0009 a0001c0001t0037 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0037 a0001c0002t0004 a0001c0003t0012 a0001c0003t0047	a0001c0001t0001g0115 a0001c0001t0001g0196 a0001c0001t0009g0171 others(5): Show a0001c0001t0001g0115 a0001c0001t0001g0196 a0001c0001t0009g0171 a0001c0001t0037g0074 a0001c0002t0004g0135 a0001c0003t0012g0003 a0001c0003t0012g0004 a0001c0003t0047g0005	8	214	0.0374	15	c.339 others(36): Show c.3391+53891_3391+53905dupCTTTCCTTTCCTTTC	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	31056458	G G	GAAAAAGA others(8): Show GAAAAAGAAAGAAGGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00741.hp1 HG01081.hp2 others(14): Show HG00558.hp1 HG00741.hp1 HG01081.hp2 HG01123.hp2 HG02083.hp2 HG02293.hp2 HG02486.hp2 HG02683.hp2 HG02886.hp2 HG03017.hp1 HG03710.hp2 HG03927.hp1 HG04199.hp2 NA18951.hp2 NA18953.hp1 NA18975.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0024 a0001c0002t0002 a0001c0002t0004 a0001c0002t0011 a0001c0002t0029 a0001c0010t0002 a0002c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0189 a0001c0001t0001g0191 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0002g0049 a0001c0001t0002g0060 a0001c0001t0003g0077 a0001c0001t0004g0184 a0001c0001t0006g0069 a0001c0001t0024g0046 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0153 a0001c0002t0004g0159 a0001c0002t0011g0133 a0001c0002t0029g0152 a0001c0010t0002g0106 a0002c0007t0001g0111	17	214	0.0794	15	c.339 others(36): Show c.3392-86013_3392-86012insAAAGAAAGAAGGAAA	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar

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