Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CERS2_chr1_150960186_150979835	150969149	GATGAATA others(67): Show GATGAATAAAAGTTTTCAGGATGTATCAAAAGGAGAAGGGGGCAGAGAGT CGAACTCTAGATCCCTATCCTGGCT	G G	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	382	0.0026	-74	c.-1- others(86): Show c.-1-132_-1-59delAGCCAGGATAGGGATCTAGAGTTCGACTCTCTG CCCCCTTCTCCTTTTGATACATCCTGAAAACTTTTATTCAT		CERS2	ENSG00000143418.20	transcript	ENST00000368954.10	protein_coding	1/10						chr1	TogoVar
CFAP46_chr10_132803392_132947570	132843987	AGTGGGTG others(67): Show AGTGGGTGTTCCCAGGGTGCTGTGGGGCTCTGGTCTCGGTGGGTGTTCCC AGGGTGCTGTGGGGCTGTGGTCTCG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02895.hp1 HG02572.hp1 HG02895.hp1	a0032 a0059 a0032 a0059	a0032c0063 a0059c0082 a0032c0063 a0059c0082	a0032c0063t0001 a0059c0082t0002 a0032c0063t0001 a0059c0082t0002	a0032c0063t0001g0213 a0059c0082t0002g0100 a0032c0063t0001g0213 a0059c0082t0002g0100	2	246	0.0081	-74	c.643 others(93): Show c.6438+1996_6438+2069delCGAGACCACAGCCCCACAGCACCCTG GGAACACCCACCGAGACCAGAGCCCCACAGCACCCTGGGAACACCCAC		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	44/57						chr10	TogoVar
CFAP54_chr12_96484577_96880555	96664703	ATATATAT others(67): Show ATATATATATATCTATATATATCTATATATATATATCTATATATATATAT ATCTATATATATCTATATCTATATC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00738.hp2 HG01106.hp2 others(30): Show HG00544.hp2 HG00738.hp2 HG01106.hp2 HG01123.hp2 HG01358.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG02148.hp1 HG02486.hp2 HG02630.hp1 HG02683.hp1 HG02886.hp1 HG02976.hp1 HG03139.hp2 HG03225.hp1 HG03540.hp1 HG04204.hp1 NA18747.hp2 NA18947.hp2 NA18954.hp2 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18984.hp2 NA19012.hp2 NA19054.hp2 NA19058.hp2 NA19065.hp2 NA19081.hp1 NA19084.hp2 NA19091.hp1	a0003 a0004 a0005 others(10): Show a0003 a0004 a0005 a0007 a0012 a0015 a0017 a0019 a0020 a0035 a0040 a0049 a0055	a0003c0033 a0004c0042 a0005c0004 others(15): Show a0003c0033 a0004c0042 a0005c0004 a0005c0015 a0005c0020 a0005c0041 a0007c0028 a0007c0071 a0007c0077 a0012c0097 a0015c0100 a0017c0031 a0019c0023 a0020c0024 a0035c0063 a0040c0037 a0049c0044 a0055c0089	a0003c0033t0001 a0004c0042t0001 a0005c0004t0001 others(15): Show a0003c0033t0001 a0004c0042t0001 a0005c0004t0001 a0005c0015t0001 a0005c0020t0001 a0005c0041t0001 a0007c0028t0001 a0007c0071t0001 a0007c0077t0001 a0012c0097t0001 a0015c0100t0001 a0017c0031t0001 a0019c0023t0001 a0020c0024t0001 a0035c0063t0001 a0040c0037t0001 a0049c0044t0001 a0055c0089t0001	a0003c0033t0001g0218 a0004c0042t0001g0094 a0005c0004t0001g0010 others(30): Show a0003c0033t0001g0218 a0004c0042t0001g0094 a0005c0004t0001g0010 a0005c0004t0001g0011 a0005c0004t0001g0012 a0005c0004t0001g0013 a0005c0004t0001g0108 a0005c0004t0001g0110 a0005c0004t0001g0111 a0005c0004t0001g0112 a0005c0004t0001g0114 a0005c0004t0001g0115 a0005c0004t0001g0116 a0005c0015t0001g0016 a0005c0015t0001g0062 a0005c0015t0001g0102 a0005c0020t0001g0142 a0005c0020t0001g0213 a0005c0020t0001g0250 a0005c0041t0001g0057 a0007c0028t0001g0182 a0007c0071t0001g0180 a0007c0077t0001g0183 a0012c0097t0001g0196 a0015c0100t0001g0194 a0017c0031t0001g0266 a0019c0023t0001g0038 a0019c0023t0001g0039 a0020c0024t0001g0009 a0035c0063t0001g0113 a0040c0037t0001g0163 a0049c0044t0001g0030 a0055c0089t0001g0150	33	268	0.1231	-74	c.556 others(91): Show c.5563+783_5563+856delCTATATATATCTATATATATATATCTAT ATATATATATATCTATATATATCTATATCTATATCTATATATATAT		CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67					INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP58_chr10_104348833_104460102	104357902	CACATATA others(67): Show CACATATACACACATATATGTACACATATACACACATATATGTACACATA TATACACATATATGTACACATATGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02723.hp1 HG03041.hp2 others(1): Show HG02257.hp2 HG02723.hp1 HG03041.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0241 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0241 a0001c0001t0001g0242	4	308	0.0130	-74	c.10- others(87): Show c.10-432_10-359delACACACATATATGTACACATATACACACATAT ATGTACACATATATACACATATATGTACACATATGTACATAT		CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
CHCHD4_chr3_14107077_14129870	14119422	GTCCTAGA others(67): Show GTCCTAGAGGGCCTTTGCTTTCTGGAACTTTTAAAAGTCGATTCAAGGAC TGATGCAAGGACAAGGCTTACCTAT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00639.hp2 others(61): Show HG00423.hp1 HG00438.hp1 HG00639.hp2 HG01243.hp1 HG01256.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01934.hp2 HG01981.hp2 HG01993.hp2 HG02040.hp2 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02293.hp2 HG02300.hp2 HG02602.hp1 HG02622.hp2 HG02895.hp1 HG02976.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp2 NA18522.hp2 NA18940.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18989.hp1 NA18991.hp1 NA18998.hp1 NA18999.hp1 NA19004.hp1 NA19009.hp2 NA19054.hp2 NA19064.hp2 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0001 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0039 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0039 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0004g0011 a0001c0001t0004g0086 a0001c0001t0008g0091	64	416	0.1539	-74	c.23- others(89): Show c.23-2972_23-2899delATAGGTAAGCCTTGTCCTTGCATCAGTCCT TGAATCGACTTTTAAAAGTTCCAGAAAGCAAAGGCCCTCTAGGA		CHCHD4	ENSG00000163528.13	transcript	ENST00000396914.4	protein_coding	1/2						chr3	TogoVar
CHID1_chr11_862859_915810	881582	GGACCACG others(67): Show GGACCACGTCGGGCGGTAGGTTGGGTGGTGAGGGAAAGGACCACGTCGGG CGGTAGGTTGGGTGGTGAGAGAAAT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01192.hp1 HG02071.hp1 others(7): Show HG00597.hp1 HG01192.hp1 HG02071.hp1 HG02074.hp2 HG02145.hp2 HG02818.hp2 HG02976.hp2 HG03239.hp1 NA18939.hp2 NA19012.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0002c0002t0024 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0024 a0004c0004t0001	a0001c0001t0001g0091 a0001c0001t0001g0126 a0001c0001t0001g0148 others(7): Show a0001c0001t0001g0091 a0001c0001t0001g0126 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0169 a0001c0001t0001g0204 a0001c0001t0001g0221 a0002c0002t0001g0078 a0002c0002t0024g0270 a0004c0004t0001g0318	10	386	0.0259	-74	c.959 others(91): Show c.959+1492_959+1565delATTTCTCTCACCACCCAACCTACCGCCC GACGTGGTCCTTTCCCTCACCACCCAACCTACCGCCCGACGTGGTC		CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	10/12						chr11	TogoVar
CHST15_chr10_124002668_124098598	124034732	AGGGACCC others(67): Show AGGGACCCCGGCTCCACCCCCTAACAGGGACGCCGGCTCCACCCCCTAAC AGGGACGCCGGCTCCGCCCCTAACG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01257.hp1 HG02602.hp2 others(4): Show HG00741.hp2 HG01257.hp1 HG02602.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG04199.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0003 a0001c0001t0006 a0004c0010t0006 a0001c0001t0003 a0001c0001t0006 a0004c0010t0006	a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0006g0059 others(4): Show a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0006g0059 a0001c0001t0006g0264 a0001c0001t0006g0269 a0001c0001t0006g0272 a0004c0010t0006g0094	7	392	0.0179	-74	c.119 others(93): Show c.1190+3709_1190+3782delCGTTAGGGGCGGAGCCGGCGTCCCTG TTAGGGGGTGGAGCCGGCGTCCCTGTTAGGGGGTGGAGCCGGGGTCCC		CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	5/7						chr10	TogoVar
CHST8_chr19_33616953_33778506	33757422	GAAAGAAA others(67): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	254	0.0039	-74	c.131 others(93): Show c.131-13989_131-13916delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757430	GAAAGAAA others(67): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01517.hp1 HG00140.hp2 HG00735.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0186 a0001c0001t0001g0239 a0001c0001t0012g0192 a0001c0001t0001g0186 a0001c0001t0001g0239 a0001c0001t0012g0192	3	254	0.0118	-74	c.131 others(93): Show c.131-13981_131-13908delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
CLPTM1L_chr5_1312752_1350099	1335877	ACCACCCT others(67): Show ACCACCCTCCACGTTCTGGAACATCCAGCGAGGGCTGTGCTCTAATCCAC CTGCCCTGCCTCAAGCCCTGACCCG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03017.hp2 HG03491.hp1 others(1): Show HG02698.hp1 HG03017.hp2 HG03491.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0119 a0001c0001t0001g0158 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0119 a0001c0001t0001g0158 a0001c0001t0001g0213	4	370	0.0108	-74	c.679 others(89): Show c.679-777_679-704delCGGGTCAGGGCTTGAGGCAGGGCAGGTGGA TTAGAGCACAGCCCTCGCTGGATGTTCCAGAACGTGGAGGGTGG		CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	5/16						chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1335891	TCTGGAAC others(67): Show TCTGGAACATCCAGCGAGGGCTGTGCTCTAATCCACCTGCCCTGCCTCAA GCCCTGACCCGCCACCCTCCACGTG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG02572.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0126 a0001c0001t0001g0127	2	370	0.0054	-74	c.679 others(89): Show c.679-791_679-718delCACGTGGAGGGTGGCGGGTCAGGGCTTGAG GCAGGGCAGGTGGATTAGAGCACAGCCCTCGCTGGATGTTCCAG		CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	5/16						chr5	TogoVar
CLSTN2_chr3_139930185_140582397	140419715	ATATATAC others(67): Show ATATATACGTATATACATGTATATACGTATATATACACATATACGTGTAT ACACGTGTATACACGTATATACACG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03486.hp1 HG02280.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0025 a0001c0009t0018 a0001c0001t0025 a0001c0009t0018	a0001c0001t0025g0004 a0001c0009t0018g0018 a0001c0001t0025g0004 a0001c0009t0018g0018	2	110	0.0182	-74	c.638 others(91): Show c.638-1405_638-1332delTACGTATATACATGTATATACGTATATA TACACATATACGTGTATACACGTGTATACACGTATATACACGTATA		CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140490012	ATGTGTGT others(67): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp2 HG01167.hp2 others(9): Show HG00621.hp2 HG00735.hp2 HG01167.hp2 HG01884.hp1 HG02135.hp1 HG02145.hp1 HG02886.hp2 HG03139.hp1 HG03704.hp2 NA18977.hp2 NA19030.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0035 a0001c0003t0003 a0001c0003t0019 a0002c0002t0001 a0002c0002t0040 a0002c0007t0003	a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0076 others(9): Show a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0076 a0001c0001t0002g0033 a0001c0001t0014g0032 a0001c0001t0035g0082 a0001c0003t0003g0010 a0001c0003t0003g0075 a0001c0003t0019g0062 a0002c0002t0001g0007 a0002c0002t0040g0078 a0002c0007t0003g0083	12	110	0.1091	-74	c.134 others(95): Show c.1344+23285_1344+23358delGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT		CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	8/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNDP2_chr18_74491363_74528454	74514445	GATGTAAG others(67): Show GATGTAAGTTCTGCAGGCTATAGGTTTATGTGGTATGGATGTAAGTTCTG CAGCCTGTGGGCTTACGTGGTACGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp2 others(164): Show HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01891.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp2 NA19067.hp1 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0008 a0009	a0001c0001 a0001c0003 a0001c0009 others(7): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0002c0006 a0004c0010 a0005c0019 a0006c0013 a0008c0012 a0009c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0042 a0001c0003t0002 a0001c0003t0006 a0001c0003t0007 a0001c0003t0021 a0001c0009t0001 a0002c0002t0006 a0002c0002t0007 a0002c0002t0039 a0002c0002t0040 a0002c0006t0003 a0004c0010t0001 a0005c0019t0001 a0006c0013t0002 a0008c0012t0007 a0009c0015t0004	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(116): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0164 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0216 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0080 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0003g0244 a0001c0001t0004g0023 a0001c0001t0004g0058 a0001c0001t0004g0173 a0001c0001t0004g0256 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0270 a0001c0001t0005g0144 a0001c0001t0005g0146 a0001c0001t0008g0239 a0001c0001t0008g0243 a0001c0001t0008g0250 a0001c0001t0008g0252 a0001c0001t0008g0253 a0001c0001t0008g0263 a0001c0001t0012g0277 a0001c0001t0014g0003 a0001c0001t0014g0016 a0001c0001t0014g0197 a0001c0001t0014g0292 a0001c0001t0015g0248 a0001c0001t0015g0249 a0001c0001t0017g0186 a0001c0001t0018g0255 a0001c0001t0019g0201 a0001c0001t0025g0007 a0001c0001t0027g0016 a0001c0001t0030g0016 a0001c0001t0032g0233 a0001c0001t0035g0291 a0001c0001t0036g0003 a0001c0001t0037g0070 a0001c0001t0042g0082 a0001c0003t0002g0192 a0001c0003t0006g0045 a0001c0003t0007g0044 a0001c0003t0007g0138 a0001c0003t0007g0191 a0001c0003t0021g0035 a0001c0009t0001g0007 a0002c0002t0006g0099 a0002c0002t0006g0139 a0002c0002t0007g0121 a0002c0002t0039g0065 a0002c0002t0040g0140 a0002c0006t0003g0283 a0004c0010t0001g0228 a0005c0019t0001g0005 a0006c0013t0002g0124 a0008c0012t0007g0044 a0009c0015t0004g0258	167	424	0.3939	-74	c.903 others(89): Show c.903+853_903+926delCCTGTGGGCTTACGTGGTACGTATGTAAGT TCTGCAGGCTATAGGTTTATGTGGTATGGATGTAAGTTCTGCAG		CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
CNGA1_chr4_47930977_48021681	47976167	ATATACAC others(67): Show ATATACACATACATATATATATACATATATATGTATATATATATATACAC ATACATATATATATACATATATATG	A A	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	366	0.0027	-74	c.-15 others(91): Show c.-15+5152_-15+5225delCATATATATGTATATATATATGTATGTG TATATATATATATACATATATATGTATATATATATGTATGTGTATA		CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	3/10						chr4	TogoVar
CNOT3_chr19_54132762_54160681	54133973	TTCCCTCT others(67): Show TTCCCTCTCTCCTCCCCTCTCCCCCTCCCTCCCTCTCTCCACCTTCCCTC TCTCCACCTCCCCTCTCCCCCTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	223	0.0045	-74	c.-40 others(85): Show c.-4070_-3997delTCCCTCTCTCCTCCCCTCTCCCCCTCCCTCCCTC TCTCCACCTTCCCTCTCTCCACCTCCCCTCTCCCCCTCCC		CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding					3788		chr19	TogoVar
COL18A1_chr21_45400165_45518720	45437580	GTACACAC others(67): Show GTACACACACACACTCACACACTCAGACACACAGGCACTCTCCTGCACAC ACACTCACACAGGCACTCTCCTGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00438.hp1 others(60): Show HG00099.hp2 HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01361.hp2 HG01943.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02630.hp2 HG02683.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03942.hp2 HG04204.hp2 HG04228.hp1 NA18944.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18975.hp1 NA18983.hp1 NA18999.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19088.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(12): Show a0001 a0003 a0005 a0006 a0007 a0008 a0009 a0013 a0016 a0026 a0027 a0030 a0032 a0036 a0037	a0001c0001 a0001c0002 a0001c0003 others(27): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0025 a0001c0053 a0001c0069 a0001c0082 a0003c0009 a0003c0010 a0003c0015 a0003c0045 a0003c0046 a0003c0047 a0005c0060 a0006c0026 a0006c0072 a0007c0034 a0008c0018 a0009c0016 a0013c0051 a0016c0042 a0026c0044 a0027c0070 a0030c0056 a0032c0052 a0036c0048 a0037c0049	a0001c0001t0001 a0001c0002t0012 a0001c0003t0001 others(31): Show a0001c0001t0001 a0001c0002t0012 a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 a0001c0004t0001 a0001c0005t0002 a0001c0007t0002 a0001c0025t0002 a0001c0053t0001 a0001c0069t0005 a0001c0082t0008 a0003c0009t0001 a0003c0010t0002 a0003c0010t0006 a0003c0015t0001 a0003c0045t0006 a0003c0046t0001 a0003c0047t0001 a0005c0060t0001 a0006c0026t0001 a0006c0026t0003 a0006c0072t0002 a0007c0034t0001 a0008c0018t0005 a0009c0016t0001 a0013c0051t0001 a0016c0042t0001 a0026c0044t0001 a0027c0070t0001 a0030c0056t0001 a0032c0052t0002 a0036c0048t0004 a0037c0049t0004	a0001c0001t0001g0142 a0001c0001t0001g0191 a0001c0002t0012g0109 others(60): Show a0001c0001t0001g0142 a0001c0001t0001g0191 a0001c0002t0012g0109 a0001c0003t0001g0005 a0001c0003t0001g0048 a0001c0003t0001g0081 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0101 a0001c0003t0001g0145 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0193 a0001c0003t0001g0221 a0001c0003t0001g0254 a0001c0003t0001g0261 a0001c0003t0001g0289 a0001c0003t0003g0264 a0001c0003t0008g0166 a0001c0004t0001g0255 a0001c0005t0002g0158 a0001c0007t0002g0078 a0001c0007t0002g0161 a0001c0007t0002g0185 a0001c0007t0002g0194 a0001c0007t0002g0208 a0001c0007t0002g0220 a0001c0025t0002g0159 a0001c0025t0002g0164 a0001c0053t0001g0244 a0001c0069t0005g0038 a0001c0082t0008g0053 a0003c0009t0001g0054 a0003c0009t0001g0167 a0003c0009t0001g0171 a0003c0009t0001g0247 a0003c0010t0002g0068 a0003c0010t0002g0151 a0003c0010t0002g0172 a0003c0010t0006g0014 a0003c0015t0001g0168 a0003c0015t0001g0189 a0003c0015t0001g0202 a0003c0045t0006g0242 a0003c0046t0001g0002 a0003c0047t0001g0069 a0005c0060t0001g0063 a0006c0026t0001g0083 a0006c0026t0003g0219 a0006c0072t0002g0082 a0007c0034t0001g0141 a0008c0018t0005g0067 a0008c0018t0005g0130 a0008c0018t0005g0132 a0009c0016t0001g0084 a0013c0051t0001g0195 a0016c0042t0001g0118 a0026c0044t0001g0037 a0027c0070t0001g0012 a0030c0056t0001g0044 a0032c0052t0002g0077 a0036c0048t0004g0184 a0037c0049t0004g0183	63	292	0.2158	-74	c.107 others(93): Show c.107-30661_107-30588delTACACACACACACTCACACACTCAGA CACACAGGCACTCTCCTGCACACACACTCACACAGGCACTCTCCTGCA		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41						chr21	TogoVar
COL18A1_chr21_45400165_45518720	45437833	CAAGCACT others(67): Show CAAGCACTCTCCTGCACACACTCACACTCACACTCAGACACACAGGCACT CTCCTGCACACACACACTCACTCAG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0006 a0006	a0006c0072 a0006c0072	a0006c0072t0002 a0006c0072t0002	a0006c0072t0002g0082 a0006c0072t0002g0082	1	292	0.0034	-74	c.107 others(93): Show c.107-30407_107-30334delAGCACTCTCCTGCACACACTCACACT CACACTCAGACACACAGGCACTCTCCTGCACACACACACTCACTCAGA		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45500837	GTTTGGTG others(67): Show GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG TTGGGTGTGTAGTGTGGGGGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp2 HG03710.hp1 HG02135.hp1 HG02135.hp2 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0064 a0001c0002 a0001c0003 a0001c0064	a0001c0002t0001 a0001c0003t0001 a0001c0064t0001 a0001c0002t0001 a0001c0003t0001 a0001c0064t0001	a0001c0002t0001g0024 a0001c0003t0001g0289 a0001c0064t0001g0061 a0001c0002t0001g0024 a0001c0003t0001g0289 a0001c0064t0001g0061	3	292	0.0103	-74	c.268 others(93): Show c.2684-3163_2684-3090delTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGTTTTGGTGTGT		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69921700	ATATATTC others(67): Show ATATATTCGTATGTAGATTCGTATATATTCGTATGTAGATTCGTATATGT ATATTCGTATGTAGATTCGTATATG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG04184.hp1 HG03225.hp1 HG04184.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0020 a0002c0004t0001 a0002c0003t0020 a0002c0004t0001	a0002c0003t0020g0071 a0002c0004t0001g0068 a0002c0003t0020g0071 a0002c0004t0001g0068	2	182	0.0110	-74	c.267 others(91): Show c.267-6183_267-6110delATTCGTATGTAGATTCGTATATGTATAT TCGTATGTAGATTCGTATATGTATATTCGTATGTAGATTCGTATAT		COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50					INFO_REALIGN_3_PRIME	chr6	TogoVar
COL4A3_chr2_227159624_227319792	227203175	GTGTATAT others(67): Show GTGTATATGTGTGTATATATACATATATGTGTATATACACACATATATGT GTATATATGTGTATATATACATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01256.hp2 HG01934.hp1 others(7): Show HG00099.hp1 HG01256.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG02698.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 NA20752.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0002 a0004c0003 a0001c0001 a0003c0002 a0004c0003	a0001c0001t0001 a0003c0002t0003 a0004c0003t0019 a0001c0001t0001 a0003c0002t0003 a0004c0003t0019	a0001c0001t0001g0098 a0001c0001t0001g0138 a0001c0001t0001g0161 others(7): Show a0001c0001t0001g0098 a0001c0001t0001g0138 a0001c0001t0001g0161 a0003c0002t0003g0099 a0003c0002t0003g0107 a0003c0002t0003g0159 a0003c0002t0003g0160 a0003c0002t0003g0182 a0003c0002t0003g0312 a0004c0003t0019g0105	10	344	0.0291	-74	c.88- others(91): Show c.88-34785_88-34712delGTGTGTATATATACATATATGTGTATAT ACACACATATATGTGTATATATGTGTATATATACATATATGTATAT		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041783	GAAGGGAA others(67): Show GAAGGGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0021 a0021	a0021c0016 a0021c0016	a0021c0016t0014 a0021c0016t0014	a0021c0016t0014g0278 a0021c0016t0014g0278	1	284	0.0035	-74	c.350 others(91): Show c.3505+291_3505+364delTTTCTTTCTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTCCTTTCTTTCTTTCTTTCCCTT		COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47						chr2	TogoVar
COL5A1_chr9_134636803_134849843	134759424	TACACACA others(67): Show TACACACATGCACACACCCACACCCACACACTCATACATGCACGCACACA CACCCACACACACCCACACTCATAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00609.hp2 others(63): Show HG00408.hp2 HG00558.hp1 HG00609.hp2 HG00642.hp2 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01433.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01993.hp2 HG02080.hp2 HG02109.hp2 HG02155.hp2 HG02273.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp2 NA18906.hp1 NA18950.hp1 NA18961.hp2 NA18967.hp1 NA18999.hp1 NA19005.hp1 NA19007.hp2 NA19068.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0010 a0014	a0001c0001 a0001c0002 a0001c0003 others(28): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0015 a0001c0018 a0001c0019 a0001c0027 a0001c0028 a0001c0032 a0001c0033 a0001c0036 a0001c0039 a0001c0049 a0001c0056 a0001c0057 a0001c0060 a0001c0064 a0001c0065 a0002c0017 a0004c0029 a0005c0062 a0006c0034 a0010c0037 a0014c0053	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(49): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0055 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0010 a0001c0004t0002 a0001c0005t0003 a0001c0005t0006 a0001c0005t0014 a0001c0005t0045 a0001c0006t0001 a0001c0006t0004 a0001c0006t0007 a0001c0006t0010 a0001c0006t0047 a0001c0006t0048 a0001c0007t0023 a0001c0008t0001 a0001c0008t0003 a0001c0009t0001 a0001c0009t0003 a0001c0009t0023 a0001c0010t0003 a0001c0015t0052 a0001c0018t0008 a0001c0019t0022 a0001c0027t0001 a0001c0028t0038 a0001c0032t0010 a0001c0033t0006 a0001c0036t0035 a0001c0039t0004 a0001c0049t0003 a0001c0056t0001 a0001c0057t0002 a0001c0060t0004 a0001c0064t0019 a0001c0065t0003 a0002c0017t0003 a0004c0029t0002 a0004c0029t0005 a0005c0062t0011 a0006c0034t0009 a0010c0037t0001 a0014c0053t0029	a0001c0001t0001g0125 a0001c0001t0005g0119 a0001c0002t0001g0144 others(62): Show a0001c0001t0001g0125 a0001c0001t0005g0119 a0001c0002t0001g0144 a0001c0002t0001g0156 a0001c0002t0002g0056 a0001c0002t0002g0074 a0001c0002t0002g0077 a0001c0002t0002g0096 a0001c0002t0002g0124 a0001c0002t0004g0015 a0001c0002t0005g0060 a0001c0002t0005g0063 a0001c0002t0005g0211 a0001c0002t0055g0152 a0001c0003t0001g0123 a0001c0003t0002g0001 a0001c0003t0003g0255 a0001c0003t0004g0038 a0001c0003t0004g0266 a0001c0003t0010g0039 a0001c0003t0010g0259 a0001c0004t0002g0228 a0001c0005t0003g0265 a0001c0005t0006g0040 a0001c0005t0014g0258 a0001c0005t0045g0267 a0001c0006t0001g0108 a0001c0006t0004g0011 a0001c0006t0004g0184 a0001c0006t0007g0103 a0001c0006t0010g0031 a0001c0006t0047g0019 a0001c0006t0048g0047 a0001c0007t0023g0232 a0001c0008t0001g0114 a0001c0008t0001g0149 a0001c0008t0003g0017 a0001c0009t0001g0106 a0001c0009t0001g0198 a0001c0009t0003g0261 a0001c0009t0023g0263 a0001c0010t0003g0068 a0001c0015t0052g0016 a0001c0018t0008g0179 a0001c0018t0008g0182 a0001c0019t0022g0231 a0001c0027t0001g0130 a0001c0028t0038g0138 a0001c0032t0010g0238 a0001c0033t0006g0190 a0001c0036t0035g0045 a0001c0039t0004g0197 a0001c0049t0003g0183 a0001c0056t0001g0084 a0001c0057t0002g0024 a0001c0060t0004g0240 a0001c0064t0019g0010 a0001c0065t0003g0009 a0002c0017t0003g0223 a0004c0029t0002g0097 a0004c0029t0005g0100 a0005c0062t0011g0026 a0006c0034t0009g0193 a0010c0037t0001g0057 a0014c0053t0029g0134	66	272	0.2427	-74	c.193 others(93): Show c.1935+1134_1935+1207delCATGCACACACCCACACCCACACACT CATACATGCACGCACACACACCCACACACACCCACACTCATACACACA		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COMMD10_chr5_116080025_116298287	116129602	GTATATAT others(67): Show GTATATATATACTATATACTAATGTAATATACATTAGTATATATATACTA TATACTAATGTAATATACATTAGTA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03130.hp2 HG03139.hp1 HG01243.hp1 HG03130.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338	3	350	0.0086	-74	c.400 others(91): Show c.400-4457_400-4384delTACTATATACTAATGTAATATACATTAG TATATATATACTATATACTAATGTAATATACATTAGTATATATATA		COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr5	TogoVar
COPS8_chr2_237080889_237105474	237094514	CGTCCCTT others(67): Show CGTCCCTTTTCATTTTCCCTGCCATTTCTGACCCATACCCTAGGCGCTTG CTTGCTCCCCACTCATACCTGCTGG	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	348	0.0029	-74	c.439 others(89): Show c.439+318_439+391delGTCCCTTTTCATTTTCCCTGCCATTTCTGA CCCATACCCTAGGCGCTTGCTTGCTCCCCACTCATACCTGCTGG		COPS8	ENSG00000198612.11	transcript	ENST00000354371.7	protein_coding	5/7						chr2	TogoVar
CPLX1_chr4_779957_831129	826325	GGGGGGTG others(67): Show GGGGGGTGGACCCGGGGGCGGGGGCGGGGGGCGGGGGCGGGGGGCGGACC CGGGGCGGGGGCGGGGGGTGGACCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG03704.hp1 NA18946.hp1 others(2): Show HG02129.hp2 HG03704.hp1 NA18946.hp1 NA18955.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0101 a0001c0001t0004g0002 a0001c0001t0004g0086 others(1): Show a0001c0001t0001g0101 a0001c0001t0004g0002 a0001c0001t0004g0086 a0001c0001t0004g0099	5	416	0.0120	-74	c.-43 others(83): Show c.-433_-360delGGGTCCACCCCCCGCCCCCGCCCCGGGTCCGCCCCC CGCCCCCGCCCCCCGCCCCCGCCCCCGGGTCCACCCCC		CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding					197		chr4	TogoVar
CPNE7_chr16_89570758_89602246	89585766	AGGCCTTT others(67): Show AGGCCTTTGAGGAGGGGCAGGTGAGCAGGACGGGGTAGGGGGTCCTCCAG GGAGGGTCAGGTGGGGGTGGAGGGG	A A	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18747.hp2 NA18747.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0002 a0009c0019t0002	a0009c0019t0002g0253 a0009c0019t0002g0253	1	348	0.0029	-74	c.768 others(84): Show c.768_780+61delTGAGGAGGGGCAGGTGAGCAGGACGGGGTAGGGGG TCCTCCAGGGAGGGTCAGGTGGGGGTGGAGGGGGGCCTT	p.Phe others(5): Show p.Phe256fs	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	7/15	908/2442	768/1677	256/558		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587749	CGTGTCAC others(67): Show CGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACCCACA GATACACGGCCCCCCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0293 a0001c0007t0006g0293	1	348	0.0029	-74	c.927 others(89): Show c.927+648_927+721delGTGTCACCCGCGTGTCACCCACAGAAACAC GGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCG		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14						chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588095	CCGTGTCA others(67): Show CCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCAC AGATACACGGCCCCCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0329 a0001c0002t0002g0329	1	348	0.0029	-74	c.928 others(89): Show c.928-500_928-427delCACCCACAGATACACGGCCCCCGTGTCACC CGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGT		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPSF2_chr14_92116969_92177145	92173331	ACGTATAT others(67): Show ACGTATATATATATGTATATATATATACGTATATATATATGTATATATAT ACGTATATATATATATACACATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0109	1	388	0.0026	-74	c.11 others(87): Show c.11588_*11661delCGTATATATATATGTATATATATATACGTATA TATATATGTATATATATACGTATATATATATATACACATATG		CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding					1187		chr14	TogoVar
CRLF2_chrX_1185490_1217649	1185969	TGGCTCAC others(67): Show TGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGAGACCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00558.hp1 others(58): Show HG00323.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp1 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02056.hp2 HG02165.hp1 HG02165.hp2 HG02523.hp1 HG02615.hp2 HG02630.hp1 HG02818.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03834.hp1 HG03927.hp2 HG06807.hp1 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18988.hp1 NA18990.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19058.hp1 NA19066.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA20905.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0010 a0011 a0014 a0018 a0020 a0022 a0023 a0024	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0002c0004 a0002c0005 a0002c0006 a0002c0039 a0003c0014 a0004c0012 a0010c0033 a0011c0032 a0014c0027 a0018c0022 a0020c0035 a0022c0020 a0023c0046 a0024c0019	a0001c0001t0001 a0001c0002t0002 a0001c0002t0010 others(17): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0010 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 a0002c0004t0001 a0002c0005t0001 a0002c0006t0001 a0002c0039t0001 a0003c0014t0001 a0004c0012t0004 a0010c0033t0001 a0011c0032t0001 a0014c0027t0007 a0018c0022t0001 a0020c0035t0001 a0022c0020t0001 a0023c0046t0001 a0024c0019t0002	a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0042 others(58): Show a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0002t0002g0009 a0001c0002t0002g0061 a0001c0002t0002g0116 a0001c0002t0010g0166 a0001c0003t0001g0032 a0001c0003t0001g0094 a0001c0003t0001g0098 a0001c0003t0001g0109 a0001c0007t0001g0083 a0001c0007t0001g0112 a0001c0008t0001g0141 a0001c0008t0001g0145 a0001c0008t0001g0154 a0001c0008t0001g0158 a0001c0008t0001g0162 a0002c0004t0001g0047 a0002c0004t0001g0051 a0002c0004t0001g0076 a0002c0004t0001g0087 a0002c0004t0001g0127 a0002c0005t0001g0037 a0002c0005t0001g0058 a0002c0005t0001g0064 a0002c0005t0001g0078 a0002c0005t0001g0108 a0002c0005t0001g0118 a0002c0005t0001g0129 a0002c0006t0001g0097 a0002c0039t0001g0144 a0003c0014t0001g0024 a0003c0014t0001g0036 a0004c0012t0004g0074 a0010c0033t0001g0131 a0011c0032t0001g0029 a0014c0027t0007g0068 a0018c0022t0001g0101 a0020c0035t0001g0135 a0022c0020t0001g0004 a0023c0046t0001g0164 a0024c0019t0002g0003	61	167	0.3653	-74	c.48 others(85): Show c.4854_*4927delGAGGTCTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCC		CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding					4520		chrX	TogoVar
CROCC2_chr2_240901336_240998311	240916454	CCCCATGC others(67): Show CCCCATGCGCTCCCCCCGTGCCCCCGCGCCCCCGCGCCCCCTGCGCTCCC CGCTCCCCCCGTGTCCCCCTGAACG	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0041 a0003c0003t0001g0041	1	350	0.0029	-74	c.79- others(89): Show c.79-2268_79-2195delATGCGCTCCCCCCGTGCCCCCGCGCCCCCG CGCCCCCTGCGCTCCCCGCTCCCCCCGTGTCCCCCTGAACGCCC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CST8_chr20_23486117_23501010	23490089	ATATATAA others(67): Show ATATATAATATATATATAAATTATATATATATTAATTATATATATAATAT ATATATAAATTATATATATATTAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG02615.hp2 HG03041.hp2 HG01361.hp1 HG02615.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0009	3	440	0.0068	-74	c.-13 others(85): Show c.-1396_-1323delTATATAATATATATATAAATTATATATATATTAA TTATATATATAATATATATATAAATTATATATATATTAAT		CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding					1027		chr20	TogoVar
CTDP1_chr18_79674803_79759503	79726829	GGGGGATG others(67): Show GGGGGATGGGGGTGACGCCATTGCTGGTGGACTGCTGTGGGGGTGGGGTG ACGCCGTTGCTGGTGGATGGCTGTC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03516.hp1 HG02922.hp2 HG03516.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0003 a0001c0017t0003	a0001c0017t0003g0014 a0001c0017t0003g0015 a0001c0017t0003g0014 a0001c0017t0003g0015	2	378	0.0053	-74	c.241 others(93): Show c.2418-2073_2418-2000delATGGGGGTGACGCCATTGCTGGTGGA CTGCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGATGGCTGTCGGGG		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CUX1_chr7_101811007_102288958	102217762	TGTGATGG others(67): Show TGTGATGGTGTCTAGAGGGAGGGAGGCTCTGGATGGACACGATGGTGTCT AGAGGGAGGGAGGATCTGGATGGAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02257.hp1 others(10): Show HG02055.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02559.hp2 HG02615.hp2 HG02896.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp2 NA18906.hp1 NA19030.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 others(3): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0002c0003t0001 a0002c0003t0003 a0002c0003t0013	a0001c0002t0001g0001 a0001c0002t0001g0095 a0001c0002t0005g0129 others(10): Show a0001c0002t0001g0001 a0001c0002t0001g0095 a0001c0002t0005g0129 a0001c0002t0007g0118 a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0013 a0002c0003t0001g0075 a0002c0003t0001g0080 a0002c0003t0001g0105 a0002c0003t0001g0130 a0002c0003t0003g0028 a0002c0003t0013g0055	13	132	0.0985	-74	c.125 others(95): Show c.1255+22196_1255+22269delCACGATGGTGTCTAGAGGGAGGGA GGATCTGGATGGACGTGATGGTGTCTAGAGGGAGGGAGGCTCTGGATGGA		CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	14/22					INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101812626_102263233	102217762	TGTGATGG others(67): Show TGTGATGGTGTCTAGAGGGAGGGAGGCTCTGGATGGACACGATGGTGTCT AGAGGGAGGGAGGATCTGGATGGAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02257.hp1 others(11): Show HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02280.hp2 HG02559.hp2 HG02615.hp2 HG02922.hp1 HG02922.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 NA18906.hp1 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0017 others(4): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0017 a0001c0001t0019 a0001c0001t0041 a0001c0001t0059 a0001c0001t0060	a0001c0001t0003g0008 a0001c0001t0003g0024 a0001c0001t0003g0036 others(11): Show a0001c0001t0003g0008 a0001c0001t0003g0024 a0001c0001t0003g0036 a0001c0001t0003g0040 a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0011g0048 a0001c0001t0017g0007 a0001c0001t0017g0037 a0001c0001t0019g0001 a0001c0001t0019g0006 a0001c0001t0041g0075 a0001c0001t0059g0107 a0001c0001t0060g0064	14	136	0.1029	-74	c.313 others(93): Show c.3131-9568_3131-9495delCACGATGGTGTCTAGAGGGAGGGAGG ATCTGGATGGACGTGATGGTGTCTAGAGGGAGGGAGGCTCTGGATGGA		CUX1	ENSG00000257923.12	transcript	ENST00000292535.12	protein_coding	20/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CYTH2_chr19_48464369_48487314	48478871	CGGAGGAG others(67): Show CGGAGGAGGGGCCGGGGGCCTGGACTCCTGGGTGTGAGGGAGGAGGGGCC GGGGGCCTGGACTCCTGGGTCTGAG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	366	0.0027	-74	c.111 others(91): Show c.1113-226_1113-153delCCTGGGTGTGAGGGAGGAGGGGCCGGGG GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCCGGGGGCCTGGACT		CYTH2	ENSG00000105443.17	transcript	ENST00000452733.7	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
CYTH2_chr19_48464369_48487314	48483099	TCCCCTCC others(67): Show TCCCCTCCTCCCTCAGACCCGGGAGTCCAGGCCCCCAGCCCCTCCTCCCT CAGACCCGGGAGTCCAGGCCCCCAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02109.hp2 others(2): Show HG01070.hp2 HG01071.hp2 HG02109.hp2 HG02486.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0056 a0001c0001t0002g0060 others(1): Show a0001c0001t0002g0027 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0080	5	366	0.0137	-74	c.38 others(85): Show c.3890_*3963delCCCCTCCTCCCTCAGACCCGGGAGTCCAGGCCCC CAGCCCCTCCTCCCTCAGACCCGGGAGTCCAGGCCCCCAG		CYTH2	ENSG00000105443.17	transcript	ENST00000452733.7	protein_coding					786		chr19	TogoVar
D2HGDH_chr2_241729630_241773811	241751375	AGAGGAAA others(67): Show AGAGGAAAGTCAAGGTGCCCTGTGTCCTGCTTGCAGGTCCCCGCTCTCTG TCCGTCCAGTCCAGCCTTGTCTTGG	A A	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19083.hp1 NA19083.hp1	a0011 a0011	a0011c0035 a0011c0035	a0011c0035t0001 a0011c0035t0001	a0011c0035t0001g0304 a0011c0035t0001g0304	1	412	0.0024	-74	c.113 others(86): Show c.1130_1140+63delGGAAAGTCAAGGTGCCCTGTGTCCTGCTTGCAG GTCCCCGCTCTCTGTCCGTCCAGTCCAGCCTTGTCTTGGGA	p.Arg others(5): Show p.Arg377fs	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	8/10	1288/2566	1130/1566	377/521		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDAH1_chr1_85313485_85470159	85440802	AGGGCCCA others(67): Show AGGGCCCAAAAAAAACTGATGTCCAACTAAGCTCGGAAATGTATTTCTTC CAACTAAAGCTGGCAGGATTCTGGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp2 others(49): Show HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00621.hp2 HG01358.hp2 HG02027.hp1 HG02165.hp1 HG02300.hp1 HG02602.hp2 HG02683.hp1 HG02738.hp2 HG02976.hp1 HG03195.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03710.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18968.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19009.hp1 NA19058.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19084.hp1 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0008 a0001c0001t0001g0073 a0001c0001t0001g0136 others(48): Show a0001c0001t0001g0008 a0001c0001t0001g0073 a0001c0001t0001g0136 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0264 a0001c0001t0001g0358 a0001c0001t0001g0378 a0001c0001t0002g0213 a0001c0001t0002g0225 a0001c0001t0005g0194 a0001c0001t0009g0074	52	416	0.1250	-74	c.303 others(93): Show c.303+23867_303+23940delACCAGAATCCTGCCAGCTTTAGTTGG AAGAAATACATTTCCGAGCTTAGTTGGACATCAGTTTTTTTTGGGCCC		DDAH1	ENSG00000153904.21	transcript	ENST00000284031.13	protein_coding	1/5						chr1	TogoVar
DDX1_chr2_15586868_15636101	15612002	CGGGCAGA others(67): Show CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGTAGAGGCTC CCCTCTCCTCCCGGAGGGGGCGGCT	C C	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0220	1	396	0.0025	-74	c.957 others(91): Show c.957-1219_957-1146delGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCTGGGTAGAGGCTCCCCTCTCCTCCCGGAGGGGGCGGCTGG		DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DEAF1_chr11_639233_700222	672254	TGTTCATT others(67): Show TGTTCATTATGTGCTTGTCTAGTAGAATCCGTAACAAACCCCTAACATCG AATACGACCTGGGTTGAGAATCACC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02630.hp1 HG02723.hp1 others(3): Show HG01109.hp2 HG02630.hp1 HG02723.hp1 HG02818.hp2 HG03139.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0328 a0001c0001t0004g0199 a0001c0002t0001g0195 others(3): Show a0001c0001t0001g0328 a0001c0001t0004g0199 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198	6	345	0.0174	-74	c.150 others(93): Show c.1503+2208_1503+2281delGGTGATTCTCAACCCAGGTCGTATTC GATGTTAGGGGTTTGTTACGGATTCTACTAGACAAGCACATAATGAAC		DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11						chr11	TogoVar
DEAF1_chr11_639233_700222	672310	ACCTGGGT others(67): Show ACCTGGGTTGAGAATCACCGTTCATTATGTGCTTGTCTAGTAGAATCCGT AACAAACCCCTAACATTGAATACGG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0211 a0001c0002t0001g0211	1	345	0.0029	-74	c.150 others(93): Show c.1503+2152_1503+2225delCCGTATTCAATGTTAGGGGTTTGTTA CGGATTCTACTAGACAAGCACATAATGAACGGTGATTCTCAACCCAGG		DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11						chr11	TogoVar
DECR2_chr16_396885_417482	410378	CGTGCGCT others(67): Show CGTGCGCTCTGTGAGAAGTTCTTCCGGGTGGGTGCCTCGTGCGCTCTGTG AGAAGTTCTTCCGGGTGGGTGCCTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02970.hp1 HG03041.hp2 HG02257.hp2 HG02970.hp1 HG03041.hp2	a0001 a0006 a0001 a0006	a0001c0006 a0001c0014 a0006c0016 a0001c0006 a0001c0014 a0006c0016	a0001c0006t0002 a0001c0014t0002 a0006c0016t0001 a0001c0006t0002 a0001c0014t0002 a0006c0016t0001	a0001c0006t0002g0184 a0001c0014t0002g0079 a0006c0016t0001g0163 a0001c0006t0002g0184 a0001c0014t0002g0079 a0006c0016t0001g0163	3	367	0.0082	-74	c.462 others(88): Show c.462+45_462+118delCCTCGTGCGCTCTGTGAGAAGTTCTTCCGGG TGGGTGCCTTGTGCGCTCTGTGAGAAGTTCTTCCGGGTGGGTG		DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr16	TogoVar
DEFB104B_chr8_7465308_7480082	7476879	AATCCTGC others(67): Show AATCCTGCCGCAGGTTACAAACGTGCAGCACGTAGAGGCCGTCGGATACT CTCCTCACAGCAGACACACAGCAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	196	0.0051	-74	c.-18 others(85): Show c.-1885_-1812delCTTGCTGTGTGTCTGCTGTGAGGAGAGTATCCGA CGGCCTCTACGTGCTGCACGTTTGTAACCTGCGGCAGGAT		DEFB104B	ENSG00000177023.2	transcript	ENST00000316169.2	protein_coding					1798		chr8	TogoVar
DEPDC1B_chr5_60591912_60705166	60668135	TTTTATAT others(67): Show TTTTATATATATATAAAATGGATATTATATATATATAAAATGGATATTTT ATATATATATAAAATGGATATTTTA	T T	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	292	0.0034	-74	c.314 others(93): Show c.314+18753_314+18826delTAAAATATCCATTTTATATATATATA AAATATCCATTTTATATATATATAATATCCATTTTATATATATATAAA		DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10						chr5	TogoVar
DHRS12_chr13_51762993_51809163	51775132	CCTACAGT others(67): Show CCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCT CCTACAGTATTCTCCTACATGTATT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0270 a0005c0008t0002g0270	1	420	0.0024	-74	c.364 others(91): Show c.364-1172_364-1099delAATACATGTAGGAGAATACTGTAGGAGA ATACTGTAGAATACATGTAGGAGAATACTGTAGGAGAATACTGTAG		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775682	CCTACAGT others(67): Show CCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCT CCTACAGTATTCTCCTACATGTATT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02647.hp1 HG02896.hp2 others(2): Show HG02257.hp2 HG02647.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0177 others(1): Show a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0177 a0001c0001t0004g0021	5	420	0.0119	-74	c.363 others(91): Show c.363+1304_363+1377delAATACATGTAGGAGAATACTGTAGGAGA ATACTGTAGAATACATGTAGGAGAATACTGTAGGAGAATACTGTAG		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DIAPH2_chrX_96679842_97609997	96962422	TATATATA others(67): Show TATATATACATATATATATACATATATACACACACATATATATATACATA TATATATACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0008 a0001c0001t0002g0009	2	147	0.0136	-74	c.193 others(93): Show c.1936-2663_1936-2590delCATATATATATACATATATACACACA CATATATATATACATATATATATACACACACACACACACACATATATA		DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	16/26					INFO_REALIGN_3_PRIME	chrX	TogoVar
DLGAP2_chr8_732628_1713476	939230	GGGGCTGG others(67): Show GGGGCTGGGGTGCCTGGGAGTGGGAGGTGCAGACACAGAGGGGCTGGGGT GCCTGGGAGTTGGAGGTGCAGACAC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02818.hp2 HG02647.hp1 HG02818.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0017 a0002c0006t0021 a0001c0003t0017 a0002c0006t0021	a0001c0003t0017g0004 a0002c0006t0021g0014 a0001c0003t0017g0004 a0002c0006t0021g0014	2	40	0.0500	-74	c.73+ others(91): Show c.73+31265_73+31338delGGGCTGGGGTGCCTGGGAGTGGGAGGTG CAGACACAGAGGGGCTGGGGTGCCTGGGAGTTGGAGGTGCAGACAC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14						chr8	TogoVar

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