Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
UBXN2B_chr8_58406361_58456501	58441348	C C	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATGTA T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0277 a0001c0001t0005g0277	1	155	0.0065	50	c.671 others(67): Show c.671+1598_671+1599insATATATATATATATATATATATATATGT ATATATATATATATATATATAT	UBXN2B	ENSG00000215114.10	transcript	ENST00000399598.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
UBXN7_chr3_196342662_196437427	196401823	G G	GAGAGAAG others(43): Show GAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0233 a0001c0001t0020g0233	1	72	0.0139	50	c.289 others(67): Show c.289+1128_289+1129insTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTTCTCTTCTCTTCTCT	UBXN7	ENSG00000163960.12	transcript	ENST00000296328.9	protein_coding	3/10			chr3	TogoVar
UCK2_chr1_165822614_165916618	165835314	T T	TATATATA others(43): Show TATATATATTTTTATATGTTATAAAATATAGTACATTTTATATGTTATAA A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02647.hp2 others(9): Show HG02109.hp2 HG02280.hp1 HG02647.hp2 HG02723.hp2 HG02886.hp2 HG02896.hp2 HG03041.hp2 HG03130.hp1 HG03225.hp2 HG03486.hp1 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012	a0001c0001t0001g0289 a0001c0001t0002g0279 a0001c0001t0004g0282 others(9): Show a0001c0001t0001g0289 a0001c0001t0002g0279 a0001c0001t0004g0282 a0001c0001t0004g0284 a0001c0001t0006g0277 a0001c0001t0006g0278 a0001c0001t0006g0281 a0001c0001t0006g0283 a0001c0001t0006g0285 a0001c0001t0009g0276 a0001c0001t0009g0288 a0001c0001t0012g0280	12	320	0.0375	50	c.99+ others(65): Show c.99+7401_99+7402insATAAAATATAGTACATTTTATATGTTATAA AATATATATTTTTATATGTT	UCK2	ENSG00000143179.16	transcript	ENST00000367879.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
UCN3_chr10_5359966_5379692	5370211	A A	ATATGCGT others(43): Show ATATGCGTGTGTATATGCGTGTGTATGTGCGTCTGTATGTGTGTGTGTAT G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	252	0.0040	50	c.-6- others(65): Show c.-6-3503_-6-3502insATGCGTGTGTATATGCGTGTGTATGTGCGT CTGTATGTGTGTGTGTATGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370211	A A	ATATGCGT others(43): Show ATATGCGTGTGTATATGCGTGTGTATGTGCGTGTGTATGTGTGTGTGTAT G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01891.hp2 HG01975.hp1 others(7): Show HG01081.hp2 HG01891.hp2 HG01975.hp1 HG02004.hp2 HG02055.hp2 HG02258.hp1 HG02486.hp2 HG02723.hp2 HG02886.hp1 HG02976.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0011 a0003c0004t0002 a0001c0001t0002 a0001c0001t0011 a0003c0004t0002	a0001c0001t0002g0030 a0001c0001t0002g0037 a0001c0001t0002g0235 others(3): Show a0001c0001t0002g0030 a0001c0001t0002g0037 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0011g0004 a0003c0004t0002g0037	10	261	0.0383	50	c.-6- others(65): Show c.-6-3503_-6-3502insATGCGTGTGTATATGCGTGTGTATGTGCGT GTGTATGTGTGTGTGTATGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370575	G G	GTGTATAT others(43): Show GTGTATATGTGTGTGTATGTGTGTGTATATGCGTGTGTATATGTGTGTGT A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01167.hp1 HG01346.hp2 others(4): Show HG01123.hp1 HG01167.hp1 HG01346.hp2 HG01496.hp1 HG01978.hp1 HG02148.hp2 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0012 a0002c0002t0003g0024 a0002c0002t0003g0098 others(2): Show a0002c0002t0003g0012 a0002c0002t0003g0024 a0002c0002t0003g0098 a0002c0002t0003g0101 a0002c0002t0003g0109	7	451	0.0155	50	c.-6- others(65): Show c.-6-3139_-6-3138insGTATATGTGTGTGTATGTGTGTGTATATGC GTGTGTATATGTGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370579	A A	ATATGTGT others(43): Show ATATGTGTGTGTATGTGTGTGTATATGCGTGTGTATATGTGTGTATATGT G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01123.hp2 others(8): Show HG00741.hp2 HG01070.hp1 HG01123.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0013 a0002c0002t0008 a0002c0002t0013	a0002c0002t0008g0026 a0002c0002t0008g0110 a0002c0002t0008g0111 others(7): Show a0002c0002t0008g0026 a0002c0002t0008g0110 a0002c0002t0008g0111 a0002c0002t0008g0114 a0002c0002t0008g0115 a0002c0002t0008g0116 a0002c0002t0008g0117 a0002c0002t0008g0171 a0002c0002t0008g0172 a0002c0002t0013g0120	11	371	0.0296	50	c.-6- others(65): Show c.-6-3135_-6-3134insATGTGTGTGTATGTGTGTGTATATGCGTGT GTATATGTGTGTATATGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370579	A A	ATATGTGT others(43): Show ATATGTGTGTGTATGTGTGTGTATATGCGTGTGTATATGTGTGTGTATGT G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0131 a0002c0002t0003g0131	1	361	0.0028	50	c.-6- others(65): Show c.-6-3135_-6-3134insATGTGTGTGTATGTGTGTGTATATGCGTGT GTATATGTGTGTGTATGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UEVLD_chr11_18524609_18593734	18560090	T T	TACACACA others(43): Show TACACACACACACACACACACACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	274	0.0036	50	c.613 others(67): Show c.613-1761_613-1760insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGT	UEVLD	ENSG00000151116.17	transcript	ENST00000396197.8	protein_coding	6/11			chr11	TogoVar
UGGT1_chr2_128086200_128200677	128112454	T T	TTATATAT others(43): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18941.hp2 NA18962.hp2 HG00738.hp1 NA18941.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0002 a0001c0003t0014 a0001c0001t0004 a0001c0003t0002 a0001c0003t0014	a0001c0001t0004g0053 a0001c0003t0002g0165 a0001c0003t0014g0174 a0001c0001t0004g0053 a0001c0003t0002g0165 a0001c0003t0014g0174	3	86	0.0349	50	c.522 others(65): Show c.522-611_522-610insATATATATATATATATATATATATATATAT ATATATATATATATATATAT	UGGT1	ENSG00000136731.13	transcript	ENST00000259253.11	protein_coding	5/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT3A2_chr5_36030021_36071882	36067865	G G	GAGAGAGA others(43): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	315	0.0032	50	c.-10 others(61): Show c.-1077_-1076insTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCT	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		984		chr5	TogoVar
ULK2_chr17_19765830_19872936	19814411	C C	CATATATA others(43): Show CATATATATACATATATATATATATATACACATATATATATATACATATA T	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0024 a0001c0003t0003g0024	1	265	0.0038	50	c.109 others(69): Show c.1096+2337_1096+2338insATATATGTATATATATATATGTGTAT ATATATATATATATGTATATATAT	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	13/26			chr17	TogoVar
ULK2_chr17_19765830_19872936	19814411	C C	CATATATA others(43): Show CATATATATACATATATATATATATATATACATATATATATATACATATA T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18975.hp1 NA18980.hp1 others(3): Show NA18944.hp2 NA18975.hp1 NA18980.hp1 NA18982.hp1 NA18999.hp2 NA19068.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0028 a0001c0003t0003g0029 a0001c0003t0003g0030 others(3): Show a0001c0003t0003g0028 a0001c0003t0003g0029 a0001c0003t0003g0030 a0001c0003t0003g0036 a0001c0003t0003g0038 a0001c0003t0003g0039	6	270	0.0222	50	c.109 others(69): Show c.1096+2337_1096+2338insATATATGTATATATATATATGTATAT ATATATATATATATGTATATATAT	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	13/26			chr17	TogoVar
UMAD1_chr7_7635752_7884223	7678697	T T	TATATATT others(43): Show TATATATTTATATATTTAGTTTATAAATATATTTATATATTTAGTTTATA A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0237 a0001c0001t0055g0237	1	244	0.0041	50	c.82+ others(65): Show c.82+5275_82+5276insTTATATATTTAGTTTATAAATATATTTATA TATTTAGTTTATAAATATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7678699	T T	TATATTTA others(43): Show TATATTTATATATTTAGTTTATAAATATATATTTATGTATTTAGTTTATA A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0026 a0001c0001t0072g0026	1	247	0.0040	50	c.82+ others(65): Show c.82+5281_82+5282insGTATTTAGTTTATAAATATTTATATATTTA GTTTATAAATATATATTTAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMODL1_chr21_42066317_42147996	42078235	T T	TAGAAACC others(43): Show TAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp2 HG02723.hp2 others(6): Show HG02486.hp2 HG02572.hp2 HG02723.hp2 HG02886.hp2 HG02976.hp1 HG03041.hp2 HG03471.hp2 HG03688.hp1 HG03710.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0023 a0034 a0039	a0001c0001 a0002c0002 a0003c0102 others(4): Show a0001c0001 a0002c0002 a0003c0102 a0004c0031 a0023c0101 a0034c0052 a0039c0115	a0001c0001t0023 a0002c0002t0001 a0002c0002t0004 others(5): Show a0001c0001t0023 a0002c0002t0001 a0002c0002t0004 a0003c0102t0001 a0004c0031t0002 a0023c0101t0026 a0034c0052t0002 a0039c0115t0005	a0001c0001t0023g0333 a0002c0002t0001g0386 a0002c0002t0004g0346 others(6): Show a0001c0001t0023g0333 a0002c0002t0001g0386 a0002c0002t0004g0346 a0002c0002t0004g0347 a0003c0102t0001g0307 a0004c0031t0002g0311 a0023c0101t0026g0331 a0034c0052t0002g0262 a0039c0115t0005g0280	9	313	0.0288	50	c.319 others(67): Show c.319+2050_319+2099dupGGGGCCAGCTGACCCCAGAGCAACACCT CCATCACCAACAGAAACCAGGC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078396	C C	CGGGGCCA others(43): Show CGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAGCCAGG T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02015.hp2 NA19078.hp1 HG00408.hp2 HG02015.hp2 NA19078.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0003 a0001c0001 a0006c0003	a0001c0001t0001 a0006c0003t0002 a0001c0001t0001 a0006c0003t0002	a0001c0001t0001g0312 a0006c0003t0002g0199 a0006c0003t0002g0318 a0001c0001t0001g0312 a0006c0003t0002g0199 a0006c0003t0002g0318	3	394	0.0076	50	c.319 others(67): Show c.319+2192_319+2193insGCCAGGTGGGGCCAGCTGACCCCAGAGC AACACCTCCATCACCAACAGAA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078535	C C	CAGAAACC others(43): Show CAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02486.hp2 HG03041.hp2 HG01099.hp1 HG02486.hp2 HG03041.hp2	a0001 a0039 a0001 a0039	a0001c0001 a0039c0115 a0001c0001 a0039c0115	a0001c0001t0004 a0001c0001t0023 a0039c0115t0005 a0001c0001t0004 a0001c0001t0023 a0039c0115t0005	a0001c0001t0004g0334 a0001c0001t0023g0333 a0039c0115t0005g0280 a0001c0001t0004g0334 a0001c0001t0023g0333 a0039c0115t0005g0280	3	389	0.0077	50	c.319 others(67): Show c.319+2338_319+2387dupTAGAAACCAGGCGGGGCCAGCTGACCCC AGAGCAACACCTCCATCACCAA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078585	T T	TAGAAACC others(43): Show TAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02165.hp2 HG02647.hp1 others(4): Show HG02145.hp1 HG02165.hp2 HG02647.hp1 HG02895.hp1 HG06807.hp1 NA18522.hp2 NA18955.hp1	a0002 a0018 a0077 others(3): Show a0002 a0018 a0077 a0083 a0088 a0107	a0002c0148 a0002c0149 a0018c0184 others(4): Show a0002c0148 a0002c0149 a0018c0184 a0077c0151 a0083c0146 a0088c0085 a0107c0179	a0002c0148t0001 a0002c0149t0031 a0018c0184t0003 others(4): Show a0002c0148t0001 a0002c0149t0031 a0018c0184t0003 a0077c0151t0001 a0083c0146t0005 a0088c0085t0002 a0107c0179t0002	a0002c0148t0001g0366 a0002c0149t0031g0365 a0018c0184t0003g0172 others(4): Show a0002c0148t0001g0366 a0002c0149t0031g0365 a0018c0184t0003g0172 a0077c0151t0001g0364 a0083c0146t0005g0363 a0088c0085t0002g0218 a0107c0179t0002g0384	7	351	0.0199	50	c.319 others(67): Show c.319+2450_319+2499dupGGGGCCAGCTGACCCCAGAGCAACACCT CCATCACCAACAGAAACCAGGC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078696	C C	CGGGGCCA others(43): Show CGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAGCCAGG T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0001 a0013c0027t0001	a0013c0027t0001g0154 a0013c0027t0001g0154	1	381	0.0026	50	c.319 others(67): Show c.319+2492_319+2493insGCCAGGTGGGGCCAGCTGACCCCAGAGC AACACCTCCATCACCAACAGAA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078697	G G	GGGGCCAG others(43): Show GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01123.hp2 HG01346.hp2 others(38): Show HG00733.hp1 HG01123.hp2 HG01346.hp2 HG01361.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG02056.hp2 HG02135.hp2 HG02293.hp2 HG02300.hp1 HG02572.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG02886.hp2 HG02976.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18939.hp1 NA18962.hp1 NA18967.hp1 NA18969.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18995.hp1 NA18997.hp2 NA19000.hp1 NA19012.hp2 NA19064.hp2 NA19090.hp2	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0013 a0023 a0028 a0034 a0036 a0037 a0042 a0043 a0048 a0060 a0063 a0094	a0001c0001 a0001c0008 a0002c0002 others(23): Show a0001c0001 a0001c0008 a0002c0002 a0003c0004 a0003c0102 a0004c0007 a0004c0031 a0004c0185 a0005c0026 a0006c0003 a0008c0012 a0009c0017 a0009c0018 a0013c0027 a0023c0101 a0028c0087 a0034c0052 a0036c0091 a0037c0047 a0042c0069 a0042c0073 a0043c0042 a0048c0174 a0060c0074 a0063c0093 a0094c0068	a0001c0001t0001 a0001c0008t0025 a0002c0002t0004 others(24): Show a0001c0001t0001 a0001c0008t0025 a0002c0002t0004 a0003c0004t0001 a0003c0102t0001 a0004c0007t0002 a0004c0031t0002 a0004c0185t0021 a0005c0026t0001 a0006c0003t0002 a0008c0012t0001 a0009c0017t0003 a0009c0017t0006 a0009c0018t0003 a0013c0027t0001 a0023c0101t0026 a0028c0087t0003 a0034c0052t0002 a0036c0091t0002 a0037c0047t0015 a0042c0069t0004 a0042c0073t0004 a0043c0042t0004 a0048c0174t0002 a0060c0074t0001 a0063c0093t0001 a0094c0068t0002	a0001c0001t0001g0301 a0001c0008t0025g0300 a0002c0002t0004g0346 others(37): Show a0001c0001t0001g0301 a0001c0008t0025g0300 a0002c0002t0004g0346 a0002c0002t0004g0347 a0003c0004t0001g0313 a0003c0004t0001g0314 a0003c0004t0001g0340 a0003c0004t0001g0341 a0003c0102t0001g0307 a0004c0007t0002g0385 a0004c0031t0002g0311 a0004c0185t0021g0093 a0005c0026t0001g0010 a0006c0003t0002g0094 a0006c0003t0002g0096 a0006c0003t0002g0099 a0006c0003t0002g0100 a0006c0003t0002g0101 a0006c0003t0002g0321 a0008c0012t0001g0317 a0008c0012t0001g0320 a0008c0012t0001g0343 a0009c0017t0003g0326 a0009c0017t0003g0327 a0009c0017t0006g0328 a0009c0018t0003g0319 a0013c0027t0001g0324 a0023c0101t0026g0331 a0028c0087t0003g0231 a0034c0052t0002g0262 a0034c0052t0002g0284 a0036c0091t0002g0098 a0037c0047t0015g0322 a0042c0069t0004g0383 a0042c0073t0004g0309 a0043c0042t0004g0097 a0048c0174t0002g0332 a0060c0074t0001g0308 a0063c0093t0001g0289 a0094c0068t0002g0278	41	277	0.1480	50	c.319 others(67): Show c.319+2473_319+2522dupCACCTCCATCACCAACAGAAACCAGGCA GGGCCAGCTGACCCCAGAGCAA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078735	C C	CAGAAACC others(43): Show CAGAAACCAGGCCGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA T	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0386 a0002c0002t0001g0386	1	366	0.0027	50	c.319 others(67): Show c.319+2499_319+2500insCGGGCCAGCTGACCCCAGAGCAACACCT CCATCACCAATAGAAACCAGGC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0003 a0005c0011t0003	a0005c0011t0003g0078 a0005c0011t0003g0078	1	54	0.0185	50	c.493 others(71): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTATATATATATATATATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATAT A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0154 a0001c0007t0012g0154	1	54	0.0185	50	c.493 others(71): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTATATATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5B_chr10_71207570_71307864	71227617	T T	TACATATA others(43): Show TACATATATATACACATACATATATATATACATATATACATATATATACA C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0058 a0001c0002t0058	a0001c0002t0058g0139 a0001c0002t0058g0139	1	365	0.0027	50	c.79+ others(67): Show c.79+14554_79+14555insCATATATATACACATACATATATATATA CATATATACATATATATACACA	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296727	T T	TACCACTC others(43): Show TACCACTCTGGCAGAGGTGAGGGAAGTCGGGGCCACATATTCCAGCTGCA C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0164 a0001c0002t0004g0164	1	355	0.0028	50	c.248 others(62): Show c.2481_2490+40dupTCTGGCAGAGGTGAGGGAAGTCGGGGCCACATA TTCCAGCTGCACACCAC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296762	C C	CATATTCC others(43): Show CATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCA G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01433.hp1 HG01361.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0074 a0001c0001t0017 a0001c0001t0074	a0001c0001t0017g0179 a0001c0001t0074g0061 a0001c0001t0017g0179 a0001c0001t0074g0061	2	342	0.0058	50	c.249 others(65): Show c.2490+40_2490+41insGCTGGCGGAGGTGAGGGAAGGGTGGGGCAG ATATTCCAGCTGCACACCAC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296783	A A	ACTGGCGG others(43): Show ACTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01081.hp2 HG02257.hp1 others(10): Show HG00408.hp1 HG01081.hp2 HG02257.hp1 HG02615.hp1 HG02886.hp2 HG03195.hp1 HG03225.hp2 NA18612.hp2 NA18962.hp2 NA18990.hp1 NA19002.hp1 NA19054.hp1 NA20905.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0004t0003 a0002c0005t0001 a0002c0005t0002 a0007c0012t0010	a0001c0001t0001g0178 a0001c0001t0002g0099 a0001c0001t0002g0314 others(10): Show a0001c0001t0001g0178 a0001c0001t0002g0099 a0001c0001t0002g0314 a0001c0001t0005g0098 a0001c0001t0006g0062 a0001c0001t0007g0333 a0001c0002t0001g0303 a0001c0004t0003g0035 a0001c0004t0003g0238 a0002c0005t0001g0254 a0002c0005t0002g0241 a0007c0012t0010g0112 a0007c0012t0010g0136	13	249	0.0522	50	c.249 others(67): Show c.2490+163_2490+212dupTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGG	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296812	G G	GATATTCC others(43): Show GATATTCCAGCTGCACACCACTCTGGCAGAGGTGAGGGAAGTCGGGGCCA C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03831.hp1 HG02486.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0003t0008 a0001c0001t0010 a0001c0003t0008	a0001c0001t0010g0159 a0001c0003t0008g0085 a0001c0001t0010g0159 a0001c0003t0008g0085	2	360	0.0056	50	c.249 others(65): Show c.2490+90_2490+91insTCTGGCAGAGGTGAGGGAAGTCGGGGCCAC ATATTCCAGCTGCACACCAC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296812	G G	GATATTCC others(43): Show GATATTCCAGCTGCATACCACTCTGGCAGAGGTGAGGGAAGTCGGGGCCA C	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0024 a0024	a0024c0030 a0024c0030	a0024c0030t0039 a0024c0030t0039	a0024c0030t0039g0345 a0024c0030t0039g0345	1	359	0.0028	50	c.249 others(65): Show c.2490+84_2490+85insTACCACTCTGGCAGAGGTGAGGGAAGTCGG GGCCACATATTCCAGCTGCA	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296833	G G	GCTGGCGG others(43): Show GCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03486.hp2 HG02145.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0324 a0001c0001t0007g0347 a0001c0001t0007g0324 a0001c0001t0007g0347	2	339	0.0059	50	c.249 others(67): Show c.2490+140_2490+141insACTGGCGGAGGTGAGGGAAGGGTGGGGC AGATATTCCAGCTGCACACCAC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296862	G G	GATATTCC others(43): Show GATATTCCAGCTGCACACCACTCTGGCAGAGGTGAGGGAAGTCGGGGCCA C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0011 a0010c0015t0011	a0010c0015t0011g0352 a0010c0015t0011g0352	1	361	0.0028	50	c.249 others(67): Show c.2490+140_2490+141insTCTGGCAGAGGTGAGGGAAGTCGGGGCC ACATATTCCAGCTGCACACCAC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296920	A A	AGCTGCAC others(43): Show AGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCC G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01168.hp1 HG01169.hp1 others(6): Show HG00140.hp1 HG01168.hp1 HG01169.hp1 HG01361.hp1 HG01433.hp1 HG01884.hp2 HG03239.hp2 HG03654.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0001c0001t0074	a0001c0001t0001g0005 a0001c0001t0001g0174 a0001c0001t0001g0229 others(5): Show a0001c0001t0001g0005 a0001c0001t0001g0174 a0001c0001t0001g0229 a0001c0001t0001g0301 a0001c0001t0001g0330 a0001c0001t0004g0237 a0001c0001t0017g0179 a0001c0001t0074g0061	9	314	0.0287	50	c.249 others(67): Show c.2490+212_2490+213insTGGGGCAGATATTCCGGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGG	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5C_chr4_95157504_95553973	95256699	A A	AATATATA others(43): Show AATATATATATATATATAAATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01074.hp1 NA18969.hp2 HG00544.hp2 HG01074.hp1 NA18969.hp2	a0001 a0004 a0001 a0004	a0001c0005 a0001c0006 a0004c0022 a0001c0005 a0001c0006 a0004c0022	a0001c0005t0001 a0001c0006t0001 a0004c0022t0015 a0001c0005t0001 a0001c0006t0001 a0004c0022t0015	a0001c0005t0001g0119 a0001c0006t0001g0007 a0004c0022t0015g0149 a0001c0005t0001g0119 a0001c0006t0001g0007 a0004c0022t0015g0149	3	145	0.0207	50	c.595 others(67): Show c.595-6033_595-6032insATATATATATATATATATATATATATAT ATATTTATATATATATATATAT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UPK3BL1_chr7_102632025_102647791	102646940	G G	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA19081.hp1 NA18986.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0017 a0001c0001t0018g0058 a0001c0001t0001g0017 a0001c0001t0018g0058	2	119	0.0168	50	c.-42 others(61): Show c.-4200_-4199insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		4150		chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102547837	G G	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG03239.hp1 HG01168.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0001 a0001c0001t0001g0014	2	172	0.0116	50	c.-42 others(61): Show c.-4202_-4201insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4142		chr7	TogoVar
UQCC1_chr20_35297578_35416973	35338892	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	25	0.0400	50	c.573 others(67): Show c.573+8271_573+8272insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
USH2A_chr1_215617891_216428448	215743386	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATGTGTGTGTGTGTGT G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0036 a0036	a0036c0053 a0036c0053	a0036c0053t0001 a0036c0053t0001	a0036c0053t0001g0061 a0036c0053t0001g0061	1	24	0.0417	50	c.113 others(67): Show c.11390-52_11390-51insCACACACACACACACATATATATATATA TATATATATATATATATATATA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	58/71			chr1	TogoVar
USP13_chr3_179648040_179794401	179727799	C C	CCCCCCCC others(43): Show CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGGGGGCTG A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0258 a0001c0001t0030g0258	1	298	0.0034	50	c.108 others(69): Show c.1089-2382_1089-2381insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCAGGGGGCTGACCCCCCCC	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP40_chr2_233470526_233571782	233494962	A A	ATATATAT others(43): Show ATATATATATATTTATATATATATATATATATATATATATATATATATAT T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0132 a0002c0002t0001g0133	2	276	0.0072	50	c.279 others(69): Show c.2791-1412_2791-1411insAATATATATATATATATATATATATA TATATATATATAAATATATATATA	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding	24/31			chr2	TogoVar
USP40_chr2_233470526_233571782	233567866	A A	ATAGTTAT others(43): Show ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	322	0.0031	50	c.-12 others(61): Show c.-1203_-1202insATCTTATATAAGGTTATATAACTATAATCTTATA TAAGGTTATATAACTA	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		1085		chr2	TogoVar
USP40_chr2_233470526_233571782	233567996	A A	ATAGTTAT others(43): Show ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01261.hp2 HG01891.hp1 others(1): Show HG00280.hp1 HG01261.hp2 HG01891.hp1 HG02572.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0029 a0001c0001 a0013c0029	a0001c0001t0001 a0013c0029t0001 a0001c0001t0001 a0013c0029t0001	a0001c0001t0001g0219 a0001c0001t0001g0247 a0001c0001t0001g0265 others(1): Show a0001c0001t0001g0219 a0001c0001t0001g0247 a0001c0001t0001g0265 a0013c0029t0001g0277	4	322	0.0124	50	c.-13 others(61): Show c.-1333_-1332insATCTTATATAAGGTTATATAACTATAATCTTATA TAAGGTTATATAACTA	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		1215		chr2	TogoVar
USP50_chr15_50495562_50551666	50525656	G G	GTATATAT others(43): Show GTATATATGTGTATATGTATATTATATATGTATATGTATATATATGTATA T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0241 a0007c0008t0003g0241	1	353	0.0028	50	c.936 others(67): Show c.936+4140_936+4141insATATACATATATATACATATACATATAT AATATACATATACACATATATA	USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	6/6			chr15	TogoVar
USP50_chr15_50495562_50551666	50537896	G G	GAGGGGAG others(43): Show GAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG01175.hp1 others(14): Show HG00423.hp2 HG00597.hp2 HG01175.hp1 HG02015.hp2 HG02074.hp2 HG03239.hp2 NA18949.hp1 NA18962.hp1 NA18978.hp1 NA18984.hp1 NA18986.hp1 NA18998.hp2 NA19004.hp1 NA19064.hp1 NA19066.hp2 NA19081.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0088 others(14): Show a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0155	17	298	0.0570	50	c.803 others(65): Show c.803+812_803+813insTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT TCCCTCCCCTCCCCTCCCCT	USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	5/6			chr15	TogoVar
USP50_chr15_50495562_50551666	50537896	G G	GAGGGGAG others(43): Show GAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGG A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp2 HG02683.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0140 a0001c0001t0001g0141	2	283	0.0071	50	c.803 others(65): Show c.803+812_803+813insTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT CCCCTCCCCTCCCCTCCCCT	USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	5/6			chr15	TogoVar
USP50_chr15_50495562_50551666	50537906	G G	GAGGGGAG others(43): Show GAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG04204.hp1 NA18948.hp2 others(3): Show HG00639.hp2 HG04204.hp1 NA18948.hp2 NA18959.hp1 NA18979.hp1 NA19056.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0001 a0006c0005t0001 a0001c0001t0001 a0006c0005t0001	a0001c0001t0001g0021 a0001c0001t0001g0074 a0001c0001t0001g0146 others(3): Show a0001c0001t0001g0021 a0001c0001t0001g0074 a0001c0001t0001g0146 a0001c0001t0001g0150 a0006c0005t0001g0075 a0006c0005t0001g0154	6	43	0.1395	50	c.803 others(65): Show c.803+802_803+803insTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCCTTCCCTCCCCT	USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	5/6			chr15	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGT G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 NA20905.hp1 HG03490.hp2 HG03492.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0018 a0001c0001t0015g0210 a0001c0001t0015g0018 a0001c0001t0015g0210	3	234	0.0128	50	c.-94 others(67): Show c.-941-409_-941-408insATATATATATATATATATATATATATGT GTGTGTGTGTGTGTGTGTGTGT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(43): Show ATATATATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGT G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0235 a0001c0001t0022g0235	1	232	0.0043	50	c.-94 others(67): Show c.-941-409_-941-408insATATATATATATATATATATATGTGTGT GTGTGTGTGTGTGTGTGTGTGT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
UTRN_chr6_144280335_144858034	144360064	T T	TCCCTTCC others(43): Show TCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTTCCCT C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0007 a0007	a0007c0040 a0007c0040	a0007c0040t0003 a0007c0040t0003	a0007c0040t0003g0128 a0007c0040t0003g0128	1	126	0.0079	50	c.80- others(67): Show c.80-43030_80-43029insTCCCTTCCCTCCCCTTCCCTCCCCTTCC CTTCCCTTCCCTTCCCTTCCCT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	2/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
VAMP1_chr12_6457237_6475677	6465388	A A	ATATATAT others(43): Show ATATATATATAAATGTATATATATGTATATATATATAAATGTATATATAT G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01255.hp1 HG02602.hp1 HG00099.hp2 HG01255.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0020	3	416	0.0072	50	c.289 others(65): Show c.289-448_289-447insCATATATATACATTTATATATATATACATA TATATACATTTATATATATA	VAMP1	ENSG00000139190.17	transcript	ENST00000396308.4	protein_coding	3/4			chr12	TogoVar

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