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
C3_chr19_6672704_6725650	6694129	GAGCCTGG others(100): Show GAGCCTGGCCTGGGAGGAGTCAGGGCCTCAGAGGGCGTGGCCTTGAGAAG AGGTGGGGGGCCCTCAGGGGATGGGCATGGCCTTGAGGAGAGGCGGGGTC TCATGAAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02818.hp1 NA19084.hp1 HG00639.hp2 HG02818.hp1 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0060 a0003c0067 a0001c0001 a0001c0060 a0003c0067	a0001c0001t0001 a0001c0060t0002 a0003c0067t0001 a0001c0001t0001 a0001c0060t0002 a0003c0067t0001	a0001c0001t0001g0143 a0001c0060t0002g0027 a0003c0067t0001g0154 a0001c0001t0001g0143 a0001c0060t0002g0027 a0003c0067t0001g0154	3	368	0.0082	-107	c.315 others(17): Show c.3154+195_3154+301del	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	24/40			chr19	TogoVar
C7orf50_chr7_992006_1143247	1115555	ACGGACAG others(100): Show ACGGACAGGCTTCCATCACCAACGCCCAGGCAGGATGGCATCACTACAGC TCTAGGGATGGCTTCCATCACCAACGCCCACGCAGGATGATGACATCACT ACAGCTCT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00639.hp2 others(37): Show HG00280.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01884.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp2 HG02273.hp1 HG02602.hp1 HG02735.hp2 HG03098.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03540.hp1 HG03710.hp1 HG03927.hp1 HG04184.hp2 NA18747.hp1 NA18955.hp1 NA19004.hp1 NA19054.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0003 a0001c0001 a0006c0003	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(5): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0026 a0006c0003t0011	a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 others(37): Show a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0272 a0001c0001t0007g0126 a0001c0001t0007g0127 a0001c0001t0007g0131 a0001c0001t0007g0135 a0001c0001t0007g0141 a0001c0001t0007g0142 a0001c0001t0007g0143 a0001c0001t0007g0144 a0001c0001t0007g0147 a0001c0001t0008g0116 a0001c0001t0008g0129 a0001c0001t0009g0117 a0001c0001t0009g0120 a0001c0001t0009g0125 a0001c0001t0009g0128 a0001c0001t0009g0130 a0001c0001t0009g0136 a0001c0001t0009g0137 a0001c0001t0009g0138 a0001c0001t0009g0139 a0001c0001t0009g0140 a0001c0001t0009g0148 a0001c0001t0010g0121 a0001c0001t0010g0122 a0001c0001t0010g0123 a0001c0001t0010g0124 a0001c0001t0010g0132 a0001c0001t0010g0133 a0001c0001t0010g0134 a0001c0001t0010g0145 a0001c0001t0010g0149 a0001c0001t0011g0252 a0001c0001t0011g0273 a0001c0001t0011g0274 a0001c0001t0026g0175 a0006c0003t0011g0270	40	324	0.1235	-107	c.129 others(19): Show c.129+11595_129+11701del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1C_chr12_2047987_2702950	2106213	GCCCACCC others(100): Show GCCCACCCCGGAGAGGGTTTCCACCTGAGCTGGGCGTCCTGAAGCCACTG GGCGCCCACCCCGGGGAGGATTTCTACCTCATCTGGGGCGTCCTGAAGCC ACTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01496.hp1 HG01993.hp2 others(4): Show HG00140.hp1 HG01496.hp1 HG01993.hp2 HG06807.hp1 NA18989.hp1 NA19003.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0012 a0001c0014	a0001c0001t0002 a0001c0001t0022 a0001c0002t0001 others(4): Show a0001c0001t0002 a0001c0001t0022 a0001c0002t0001 a0001c0003t0010 a0001c0010t0003 a0001c0012t0007 a0001c0014t0032	a0001c0001t0002g0049 a0001c0001t0022g0063 a0001c0002t0001g0024 others(4): Show a0001c0001t0002g0049 a0001c0001t0022g0063 a0001c0002t0001g0024 a0001c0003t0010g0030 a0001c0010t0003g0059 a0001c0012t0007g0046 a0001c0014t0032g0023	7	103	0.0680	-107	c.50- others(15): Show c.50-9000_50-8894del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2106224	AGAGGGTT others(100): Show AGAGGGTTTCCACCTGAGCTGGGCGTCCTGAAGCCACTGGGCGCCCACCC CGGGGAGGATTTCTACCTCATCTGGGGCGTCCTGAAGCCACTGGGCACCC ACCCCGGG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0098 a0001c0005t0002g0098	1	76	0.0132	-107	c.50- others(15): Show c.50-8985_50-8879del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2106372	CGCCCACC others(100): Show CGCCCACCCCGGGGAGGGTTTCCACCTGAGCTGGGCGTCCTGAAGCCACT GGGCGCCCACCCTGGGGAGGGTTTCCACCTCAGCTGGGGTGTCCTGAAGC CACTGGGA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03516.hp2 NA18906.hp1 HG01891.hp2 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0037 a0001c0004t0023 a0001c0001t0001 a0001c0003t0037 a0001c0004t0023	a0001c0001t0001g0034 a0001c0003t0037g0003 a0001c0004t0023g0033 a0001c0001t0001g0034 a0001c0003t0037g0003 a0001c0004t0023g0033	3	96	0.0313	-107	c.50- others(15): Show c.50-8825_50-8719del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2106437	GGAGGGTT others(100): Show GGAGGGTTTCCACCTCAGCTGGGGTGTCCTGAAGCCACTGGGAGCCCACC CCGGGGAGGGTTTCCACCTCAGCTGGGTGTCCTGAAGCCACTGGGCGCCC ACCCTGGA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0004 a0004	a0004c0034 a0004c0034	a0004c0034t0009 a0004c0034t0009	a0004c0034t0009g0041 a0004c0034t0009g0041	1	103	0.0097	-107	c.50- others(15): Show c.50-8764_50-8658del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2107237	GCCACTGG others(100): Show GCCACTGGGCGCCCACCCTGGAGAGAGTTTCCACCTCAGCTGGGCGTCCT GAAGCCACTGGGTGCTCACCCTGGAGAGGGTTTCCACCTCAGCTGGGGTG TGCTGAAA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0010 a0001c0020t0002g0010	1	104	0.0096	-107	c.50- others(15): Show c.50-7969_50-7863del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2107262	AGTTTCCA others(100): Show AGTTTCCACCTCAGCTGGGCGTCCTGAAGCCACTGGGTGCTCACCCTGGA GAGGGTTTCCACCTCAGCTGGGGTGTGCTGAAACCACTGGGCGCCCACCC CGGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01071.hp1 HG01106.hp1 others(47): Show HG00140.hp1 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02145.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18966.hp1 NA18966.hp2 NA18989.hp1 NA19003.hp1 NA19003.hp2 NA19030.hp1 NA19043.hp2 NA20300.hp1 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0018 a0001c0024 a0001c0026 a0001c0031 a0001c0032 a0003c0016 a0003c0023 a0003c0027 a0004c0034 a0004c0039 a0006c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0022 a0001c0001t0028 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0005 a0001c0003t0008 a0001c0003t0010 a0001c0003t0040 a0001c0003t0044 a0001c0004t0010 a0001c0004t0036 a0001c0005t0002 a0001c0005t0026 a0001c0006t0001 a0001c0007t0005 a0001c0007t0006 a0001c0010t0003 a0001c0011t0014 a0001c0011t0030 a0001c0012t0007 a0001c0014t0032 a0001c0015t0034 a0001c0018t0042 a0001c0024t0003 a0001c0026t0003 a0001c0031t0002 a0001c0032t0031 a0003c0016t0011 a0003c0023t0011 a0003c0027t0011 a0004c0034t0009 a0004c0039t0009 a0006c0028t0006	a0001c0001t0001g0034 a0001c0001t0002g0049 a0001c0001t0002g0096 others(47): Show a0001c0001t0001g0034 a0001c0001t0002g0049 a0001c0001t0002g0096 a0001c0001t0003g0068 a0001c0001t0004g0006 a0001c0001t0004g0104 a0001c0001t0005g0015 a0001c0001t0005g0043 a0001c0001t0013g0026 a0001c0001t0015g0016 a0001c0001t0022g0063 a0001c0001t0028g0081 a0001c0002t0001g0018 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0028 a0001c0002t0003g0061 a0001c0003t0001g0009 a0001c0003t0005g0036 a0001c0003t0008g0062 a0001c0003t0008g0064 a0001c0003t0010g0030 a0001c0003t0040g0011 a0001c0003t0044g0053 a0001c0004t0010g0025 a0001c0004t0036g0099 a0001c0005t0002g0090 a0001c0005t0026g0078 a0001c0006t0001g0038 a0001c0007t0005g0002 a0001c0007t0006g0055 a0001c0010t0003g0059 a0001c0011t0014g0007 a0001c0011t0030g0039 a0001c0012t0007g0046 a0001c0012t0007g0057 a0001c0014t0032g0023 a0001c0015t0034g0056 a0001c0018t0042g0083 a0001c0024t0003g0072 a0001c0026t0003g0071 a0001c0031t0002g0029 a0001c0032t0031g0103 a0003c0016t0011g0082 a0003c0023t0011g0048 a0003c0027t0011g0012 a0004c0034t0009g0041 a0004c0039t0009g0040 a0006c0028t0006g0051	50	95	0.5263	-107	c.50- others(15): Show c.50-7779_50-7673del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNG3_chr16_24251335_24367412	24317606	GAAAGAAA others(100): Show GAAAGAAAGAAAGAAAGAAAGACAGACAGAAAGAAAGAAAAGAAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02970.hp2 HG03098.hp1 others(1): Show HG01074.hp2 HG02970.hp2 HG03098.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0188 a0001c0001t0001g0269 others(1): Show a0001c0001t0001g0121 a0001c0001t0001g0188 a0001c0001t0001g0269 a0001c0001t0001g0360	4	364	0.0110	-107	c.212 others(19): Show c.212-29116_212-29010del	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG7_chr19_53904278_53948950	53921204	TCCCCAGG others(100): Show TCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGA GTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCTCAGGTCTGGTCATTGG TGGACTTG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02615.hp2 others(1): Show HG01109.hp1 HG02145.hp2 HG02615.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0021 a0001c0001t0002g0019 a0001c0001t0006g0026 others(1): Show a0001c0001t0001g0021 a0001c0001t0002g0019 a0001c0001t0006g0026 a0001c0002t0002g0025	4	363	0.0110	-107	c.424 others(17): Show c.424+5707_424+5813del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CADM2_chr3_84953989_86079429	85769002	AGTATATA others(100): Show AGTATATATACACATATATACATATATAGTATATATACACATATATACAT ATATAGTATATATACACATATATACATATATAGTATATATACACATATAT ACATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0033 a0001c0004t0033	a0001c0004t0033g0110 a0001c0004t0033g0110	1	146	0.0068	-107	c.89- others(17): Show c.89-32937_89-32831del	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAMKMT_chr2_44356947_44777592	44408937	TTGCCACG others(100): Show TTGCCACGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCGATTTGC CTGCCTCGGCCTCCCAAAGAGTCAGGATTACAGGCATGAGCCACCGCACC CAGCCTGC	T T	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	198	0.0051	-107	c.376 others(19): Show c.376+18634_376+18740del	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAPN12_chr19_38725192_38749474	38743335	GAGCCCCT others(100): Show GAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCAGCCCCTCCTCCCT CAGACCCAGGAGTCCAGGTCCCGAGCCCCTCCTCCCTCAGACCCAGGAGT CCAGGCCC	G G	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	317	0.0032	-107	c.238 others(15): Show c.238-340_238-234del	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	1/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38743442	CAGCCCCT others(100): Show CAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCGAGCCCCTCCTCC CTCAGACCCAAGAATCCAGGTCCCCAGCCCCTCCTCCCTCAGACCCAGGA GTCCAGGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0006 a0006	a0006c0028 a0006c0028	a0006c0028t0003 a0006c0028t0003	a0006c0028t0003g0296 a0006c0028t0003g0296	1	340	0.0029	-107	c.237 others(15): Show c.237+380_238-341del	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	1/20			chr19	TogoVar
CMTM7_chr3_32386853_32460528	32444061	TAAATTTA others(100): Show TAAATTTAGTTTATTTATTTTTTTTCTTTTTTAGCTCACGCTTTTCTTAC ATATAAGAAGCCATTTCCAAATTCAGATTGTGAAAATTTACTTCTATGTT TTCTTCCA	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	366	0.0027	-107	c.333 others(17): Show c.333+2050_333+2156del	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A2_chr21_46093112_46137848	46135783	CCCCAGCG others(100): Show CCCCAGCGTTCCCTCCCAGCCTCCCCTCCCAGCCTCCCCTCCCCAGCGTT CCCTCCCAGCCTCCCCTCCCCAGCCTCCCCTCCCCAGCGTTCCCTCCCAG CCTCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03453.hp1 HG01891.hp1 HG03453.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0005 a0001c0026t0005	a0001c0026t0005g0232 a0001c0026t0005g0233 a0001c0026t0005g0232 a0001c0026t0005g0233	2	362	0.0055	-107	c.32 others(11): Show c.3232_*3338del	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2936		chr21	TogoVar
CPNE7_chr16_89570758_89602246	89587984	ACCCACAG others(100): Show ACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCCG TGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAG ATACACGG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01978.hp2 HG00741.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0088 a0001c0001t0001g0094	2	336	0.0060	-107	c.928 others(15): Show c.928-687_928-581del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89598532	CCTCAGGG others(100): Show CCTCAGGGGCTGGCCAGGCAGAGGGTGCGTGTCAGGGCCCTGTGCAGGTG TGGGGGGGTCTCAGGCTGGACAGAGGGTGAGTATCCGGGCCTTGTGCAGA TCGGAGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02723.hp2 others(10): Show HG02280.hp1 HG02559.hp1 HG02723.hp2 HG02818.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0006 a0001c0007t0006g0068 a0001c0007t0006g0075 others(9): Show a0001c0007t0006g0006 a0001c0007t0006g0068 a0001c0007t0006g0075 a0001c0007t0006g0154 a0001c0007t0006g0155 a0001c0007t0006g0156 a0001c0007t0006g0157 a0001c0007t0006g0159 a0001c0007t0006g0162 a0001c0007t0006g0252 a0001c0007t0006g0274 a0001c0007t0006g0285	13	346	0.0376	-107	c.19 others(11): Show c.1912_*2018del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		1287		chr16	TogoVar
CREBBP_chr16_3720054_3885713	3789658	AATAAAAT others(100): Show AATAAAATTTACAAAAAGGATATTGCTGAAACCTTGTCAATCATACTTTT GTAAAAAAAAACTACCAAAACCTTGCAGCAAGTTAATCTAAATCTTCCTT GTGACTTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0220 a0001c0016t0001g0220	1	284	0.0035	-107	c.133 others(19): Show c.1330+2216_1330+2322del	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	5/30			chr16	TogoVar
CSF1R_chr5_150048295_150091554	150084360	AAAGAAAG others(100): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGA AAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02109.hp1 HG02109.hp2 others(8): Show HG01496.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02976.hp1 HG03209.hp2 HG03516.hp1 NA19240.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0002 a0003c0007 others(1): Show a0001c0001 a0001c0002 a0003c0007 a0009c0023	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0003c0007t0001 a0003c0007t0003 a0003c0007t0006 a0003c0007t0012 a0009c0023t0003	a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0006g0379 others(8): Show a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0006g0379 a0001c0002t0001g0378 a0003c0007t0001g0375 a0003c0007t0003g0377 a0003c0007t0003g0382 a0003c0007t0006g0380 a0003c0007t0012g0376 a0003c0007t0012g0381 a0009c0023t0003g0374	11	404	0.0272	-107	c.49+ others(15): Show c.49+1912_49+2018del	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSMD1_chr8_2930361_4999914	3182605	TGTGTGTG others(100): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTGTTAGTAGAGAAGGGGGA CTCTGGCTGTCTATAAGAAGCTGTGTGTGTGTGTGTGTGTATGTGTGTGT ATTGTTAG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp1 HG02559.hp2 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0043 a0002c0030 a0001c0043 a0002c0030	a0001c0043t0031 a0002c0030t0018 a0001c0043t0031 a0002c0030t0018	a0001c0043t0031g0044 a0002c0030t0018g0122 a0001c0043t0031g0044 a0002c0030t0018g0122	2	126	0.0159	-107	c.562 others(19): Show c.5621-1498_5621-1392del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSNK1G2_chr19_1936172_1986338	1968135	GGGGCTCC others(100): Show GGGGCTCCTCCCCAGGCTGTCCCTGACCACCCTTCAGTTCTGCAGGTGGG GCTCCTCCCTCCTCCCTCCTCCCCAGGCTGCCCCAGACCACCCTTCAGTT CTGCAGGT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01256.hp2 HG01891.hp1 others(17): Show HG01167.hp2 HG01256.hp2 HG01891.hp1 HG01981.hp1 HG02056.hp1 HG02109.hp2 HG02257.hp1 HG02293.hp2 HG02572.hp1 HG03098.hp2 HG03491.hp2 HG03492.hp2 HG04228.hp1 NA18939.hp2 NA18942.hp1 NA18963.hp1 NA18967.hp1 NA19002.hp1 NA19240.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0005 a0001c0001t0001g0184 a0001c0001t0001g0283 others(16): Show a0001c0001t0001g0005 a0001c0001t0001g0184 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0332 a0001c0001t0001g0343 a0001c0001t0001g0364 a0001c0001t0001g0368 a0001c0001t0002g0328 a0001c0002t0002g0200 a0001c0002t0002g0331 a0001c0002t0002g0347	20	380	0.0526	-107	c.-26 others(19): Show c.-265-1369_-265-1263del	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CST9L_chr20_23559732_23573484	23560991	CCTTCCTT others(100): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTT CCTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	385	0.0026	-107	c.38 others(11): Show c.3850_*3956del	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3740		chr20	TogoVar
CST9L_chr20_23559732_23573484	23560995	CCTTCCTT others(100): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCC TTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTT CTTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01255.hp2 HG01516.hp1 others(2): Show HG00323.hp2 HG01255.hp2 HG01516.hp1 HG06807.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	5	377	0.0133	-107	c.38 others(11): Show c.3846_*3952del	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3736		chr20	TogoVar
DDX51_chr12_132131594_132149319	132135448	CGCTACCT others(100): Show CGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCT CCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCC GGTGCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0007 a0002c0005t0005g0007	1	325	0.0031	-107	c.37 others(11): Show c.3717_*3823del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1145		chr12	TogoVar
DGKB_chr7_14140049_14907751	14211704	TTTTACTC others(100): Show TTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATG TTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0128 a0001c0004t0001g0128	1	97	0.0103	-107	c.212 others(21): Show c.2123-33660_2123-33554del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211726	ATTTACTC others(100): Show ATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGAT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0006 a0002c0007t0006	a0002c0007t0006g0030 a0002c0007t0006g0030	1	142	0.0070	-107	c.212 others(21): Show c.2123-33682_2123-33576del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DIP2C_chr10_269201_694668	418007	AGGGCGCG others(100): Show AGGGCGCGGACAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCTTCGATA GGCCTCCCTGTTCACTGCACCTGTCAGGCCTCAGATAGGCATCCCCGTCC ACCTGTCG	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02717.hp1 HG01981.hp1 HG02717.hp1	a0001 a0001	a0001c0006 a0001c0009 a0001c0006 a0001c0009	a0001c0006t0002 a0001c0009t0001 a0001c0006t0002 a0001c0009t0001	a0001c0006t0002g0054 a0001c0009t0001g0013 a0001c0006t0002g0054 a0001c0009t0001g0013	2	88	0.0227	-107	c.739 others(16): Show c.739+951_739+1057del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DIP2C_chr10_269201_694668	418055	TAGGCCTC others(100): Show TAGGCCTCCCTGTTCACTGCACCTGTCAGGCCTCAGATAGGCATCCCCGT CCACCTGTCGGAGCTCGGATAGGCCTCCCTGTCCACCTGCACCTGTCAGA GCTCGGAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18970.hp2 NA19007.hp2 HG01099.hp2 NA18970.hp2 NA19007.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0046 a0001c0004t0001g0083 a0001c0004t0001g0086 a0001c0004t0001g0046 a0001c0004t0001g0083 a0001c0004t0001g0086	3	81	0.0370	-107	c.739 others(16): Show c.739+903_739+1009del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DOC2B_chr17_137789_186650	139266	TACAGAGG others(100): Show TACAGAGGATCCTACTCAAGGAGCACACGTGCGAAAGTCCCCCACAGAGG GACACACAAATGGGGACATCAGGAACACAGGGCCACAGCCACACACACAG ACCCACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02922.hp1 HG02055.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0286 a0001c0007t0001g0290 a0001c0007t0001g0286 a0001c0007t0001g0290	2	338	0.0059	-107	c.80 others(11): Show c.8068_*8174del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		3522		chr17	TogoVar
EHD2_chr19_47708422_47748134	47718690	GGACTCCT others(100): Show GGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGATCTGAGGGAGGAGGGGC TGGGCCCA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0038 a0001c0002t0004g0038	1	396	0.0025	-107	c.502 others(15): Show c.502+117_502+223del	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ENOSF1_chr18_665318_717630	666895	GGTGATGG others(100): Show GGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGG TGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTG ATGGAGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG02135.hp1 others(12): Show HG00423.hp1 HG00621.hp2 HG02135.hp1 NA18942.hp1 NA18943.hp1 NA18951.hp2 NA18978.hp1 NA18980.hp1 NA19002.hp1 NA19003.hp2 NA19009.hp1 NA19058.hp1 NA19067.hp2 NA19080.hp2 NA19090.hp1	a0003 a0003	a0003c0004 a0003c0007 a0003c0004 a0003c0007	a0003c0004t0003 a0003c0007t0003 a0003c0004t0003 a0003c0007t0003	a0003c0004t0003g0020 a0003c0004t0003g0331 a0003c0004t0003g0332 others(11): Show a0003c0004t0003g0020 a0003c0004t0003g0331 a0003c0004t0003g0332 a0003c0004t0003g0333 a0003c0004t0003g0335 a0003c0004t0003g0343 a0003c0004t0003g0350 a0003c0004t0003g0351 a0003c0004t0003g0356 a0003c0004t0003g0365 a0003c0004t0003g0369 a0003c0004t0003g0372 a0003c0004t0003g0379 a0003c0007t0003g0345	15	343	0.0437	-107	c.73 others(11): Show c.7303_*7409del	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3422		chr18	TogoVar
ENOSF1_chr18_665318_717630	667191	AGATGGTG others(100): Show AGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAG ATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGGATGGTGATG GAGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	300	0.0033	-107	c.70 others(11): Show c.7007_*7113del	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3126		chr18	TogoVar
ENOSF1_chr18_665318_717630	667209	TGATGGAG others(100): Show TGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGTGATGGTG ATGGAGATGGTGATGGTGATGGGATGGTGATGGAGATGGTGATGGTGATG GTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	365	0.0027	-107	c.69 others(11): Show c.6989_*7095del	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3108		chr18	TogoVar
ESPNL_chr2_238095340_238138287	238118414	GAGGGTGG others(100): Show GAGGGTGGATGGAGGAGGAATGGATGGAAGAGGTGGATGGAGGAGAGTGA ATGGAGGAGGTGGATGGAAAAGAGTGGATGGTGGGAGATGGAGGAGGGTG GATGGAGA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0006 a0001c0042t0006	a0001c0042t0006g0314 a0001c0042t0006g0314	1	405	0.0025	-107	c.987 others(17): Show c.987+1448_987+1554del	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
EXOC3L4_chr14_103089725_103115559	103109174	GGTCTCCC others(100): Show GGTCTCCCTCTCTCCCTCGCCACCCTGTCCCCATGTCTCCCTCCCTCCCT CCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTCTCCACCCT GTCCCCAT	G G	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0044 a0044	a0044c0057 a0044c0057	a0044c0057t0001 a0044c0057t0001	a0044c0057t0001g0100 a0044c0057t0001g0100	1	392	0.0026	-107	c.197 others(17): Show c.1976+667_1977-741del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109327	CCTCCCTC others(100): Show CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTC CACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCAT GTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18984.hp2 HG02486.hp1 NA18984.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0003 a0003c0007t0001 a0003c0007t0003	a0003c0007t0001g0014 a0003c0007t0003g0097 a0003c0007t0001g0014 a0003c0007t0003g0097	2	328	0.0061	-107	c.197 others(17): Show c.1977-702_1977-596del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109363	CCTCCCTC others(100): Show CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTC CACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCAT GTCTCCCT	C C	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0139 a0002c0001t0001g0139	1	388	0.0026	-107	c.197 others(17): Show c.1977-666_1977-560del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109399	CCTCCCTC others(100): Show CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTC CACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCAT GTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01516.hp1 HG01517.hp1 others(3): Show HG01433.hp1 HG01516.hp1 HG01517.hp1 HG03486.hp2 NA18950.hp2 NA18964.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0005 a0002c0001 a0003c0007 others(2): Show a0001c0005 a0002c0001 a0003c0007 a0004c0002 a0004c0030	a0001c0005t0001 a0002c0001t0001 a0003c0007t0003 others(2): Show a0001c0005t0001 a0002c0001t0001 a0003c0007t0003 a0004c0002t0001 a0004c0030t0001	a0001c0005t0001g0057 a0002c0001t0001g0256 a0003c0007t0003g0004 others(2): Show a0001c0005t0001g0057 a0002c0001t0001g0256 a0003c0007t0003g0004 a0004c0002t0001g0022 a0004c0030t0001g0014	6	390	0.0154	-107	c.197 others(17): Show c.1977-630_1977-524del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
FAM9B_chrX_9019232_9039127	9022636	GATATAAT others(100): Show GATATAATATATATTATATTATGTATAAGATATAATATATATTATATTAT GTATAAGATATAATATATATTATGTATAAGATATAATATATATTATGTAT AAGATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	247	0.0040	-107	c.26 others(11): Show c.2666_*2772del	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		1595		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9022644	ATATATTA others(100): Show ATATATTATATTATGTATAAGATATAATATATATTATATTATGTATAAGA TATAATATATATTATGTATAAGATATAATATATATTATGTATAAGATATA ATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	255	0.0039	-107	c.26 others(11): Show c.2658_*2764del	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		1587		chrX	TogoVar
FBXL4_chr6_98863535_98952946	98927335	TTATAACC others(100): Show TTATAACCATCACTCAAGAAATACTAAGTCTTTGAATCTGAAAATTAAAA TTATTTAAATTATATGGTGAACCACTAAAATACTGCTGTAAATTCAAAAT AATCTTAG	T T	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0102 a0001c0001t0016g0102	1	372	0.0027	-107	c.-73 others(15): Show c.-73+263_-72-276del	FBXL4	ENSG00000112234.9	transcript	ENST00000369244.7	protein_coding	3/9			chr6	TogoVar
FER1L5_chr2_96637764_96709883	96659290	TTTCCTTC others(100): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA20129.hp2 HG01358.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0001c0003 a0003c0005	a0001c0003t0001 a0003c0005t0001 a0001c0003t0001 a0003c0005t0001	a0001c0003t0001g0197 a0003c0005t0001g0212 a0001c0003t0001g0197 a0003c0005t0001g0212	2	152	0.0132	-107	c.748 others(16): Show c.748-1048_748-942del	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FIBCD1_chr9_130897440_130944247	130898965	TCCCCACC others(100): Show TCCCCACCTCTGCCCCTCCCTCCTCTGCCCCCACCTCTACCCGCAACTCT GGCCTCCCACCTCTGCCTCCCCACCTCTGCCCCTCCCTCCTCTGCCCCCA CCTCTACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01361.hp1 HG02056.hp2 others(45): Show HG00735.hp2 HG01361.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03831.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18951.hp1 NA18964.hp1 NA18966.hp1 NA18983.hp1 NA19005.hp1 NA19043.hp2 NA19057.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0008c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0002t0003 a0002c0003t0010 a0008c0013t0007	a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 others(39): Show a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0264 a0001c0001t0002g0291 a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0058 a0001c0001t0003g0072 a0001c0001t0003g0078 a0001c0001t0003g0098 a0001c0001t0003g0111 a0001c0001t0003g0119 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0129 a0001c0001t0003g0137 a0001c0001t0003g0146 a0001c0001t0003g0178 a0001c0001t0003g0226 a0001c0001t0003g0231 a0001c0001t0003g0252 a0001c0001t0003g0262 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0293 a0001c0001t0003g0299 a0001c0001t0005g0256 a0001c0001t0007g0033 a0001c0001t0007g0040 a0001c0001t0007g0280 a0001c0001t0007g0314 a0001c0001t0007g0315 a0001c0001t0007g0316 a0001c0001t0008g0288 a0001c0002t0003g0050 a0002c0003t0010g0132 a0002c0003t0010g0136 a0002c0003t0010g0278 a0008c0013t0007g0141	48	380	0.1263	-107	c.49 others(11): Show c.4992_*5098del	FIBCD1	ENSG00000130720.13	transcript	ENST00000372338.9	protein_coding		3474		chr9	TogoVar
FKRP_chr19_46741057_46763575	46762521	CATAAACG others(100): Show CATAAACGGTCACTGCCATGAACCCCCTGACTATTAGTATCCTCCTAGCT CTCCCTGGGGATCCCCTGGGCTGCCCTCTGGCCCAGAAGTCCAGGGGTTA AACTGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	428	0.0023	-107	c.55 others(11): Show c.5584_*5690del	FKRP	ENSG00000181027.11	transcript	ENST00000318584.10	protein_coding		3947		chr19	TogoVar
FSTL3_chr19_671392_688385	674716	CACAGGGT others(100): Show CACAGGGTCCCGTCCCTGCCCTGCTCCCCAAGCCGGGGAGATTCCCGGGG GAAATGCCAGAGGCCAAGGCCAGGTCGAGACGGCGGGGTGTCCCCCCTCA GTGAGAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG02451.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0094 a0001c0001t0001g0095	2	431	0.0046	-107	c.-17 others(11): Show c.-1707_-1601del	FSTL3	ENSG00000070404.10	transcript	ENST00000166139.9	protein_coding		1675		chr19	TogoVar
FTCD_chr21_46131779_46160579	46135783	CCCCAGCG others(100): Show CCCCAGCGTTCCCTCCCAGCCTCCCCTCCCAGCCTCCCCTCCCCAGCGTT CCCTCCCAGCCTCCCCTCCCCAGCCTCCCCTCCCCAGCGTTCCCTCCCAG CCTCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0129 a0002c0005t0002g0129	1	228	0.0044	-107	c.10 others(11): Show c.1097_*1203del	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		995		chr21	TogoVar
GABRA1_chr5_161843120_161904971	161901979	TCAATACA others(100): Show TCAATACAAGCTCCATCAATTCAAGACACTTCTGTAAGCAATGATACCAG ACATTCAGTCCATTCCTAAATAACTGAGGGTCCTGGGAATATAACCATGT AAATGAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	392	0.0026	-107	c.45 others(11): Show c.4558_*4664del	GABRA1	ENSG00000022355.18	transcript	ENST00000393943.10	protein_coding		2009		chr5	TogoVar
GABRG3_chr15_26966181_27546984	27388246	AAAGGAAG others(100): Show AAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGAAAA GAAGGAAGGAAAGGGAGGGAGGGAAAAGAAGGAAGGAAGGAAAGGTGGGA GGGAGGGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG03225.hp2 others(5): Show HG01884.hp2 HG02451.hp1 HG03225.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0013 a0001c0018	a0001c0001t0001 a0001c0002t0006 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0002t0006 a0001c0003t0001 a0001c0005t0002 a0001c0005t0005 a0001c0006t0013 a0001c0013t0023 a0001c0018t0004	a0001c0001t0001g0071 a0001c0002t0006g0052 a0001c0003t0001g0066 others(5): Show a0001c0001t0001g0071 a0001c0002t0006g0052 a0001c0003t0001g0066 a0001c0005t0002g0055 a0001c0005t0005g0037 a0001c0006t0013g0017 a0001c0013t0023g0006 a0001c0018t0004g0053	8	77	0.1039	-107	c.574 others(19): Show c.574+59373_574+59479del	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GAL3ST2_chr2_241771822_241809287	241806656	TCAGCCCA others(100): Show TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	312	0.0032	-107	c.24 others(11): Show c.2491_*2597del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2370		chr2	TogoVar

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